MPZ - myelin protein zero Gene

Also Known as P0; CHM; DSS; MPP; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4359

About MPZ

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,303,600-161,309,968 (from NCBI)

This gene has 9 transcripts (splice variants), 176 orthologues, 6 paralogues and is associated with 16 phenotypes. Broad expression in fat (RPKM 6.2), prostate (RPKM 4.2) and 20 other tissues.

Summary

This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I Transmembrane Glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and Other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

MPZ Products (2)

mRNA	Protein	Name
NM_000530.8	NP_000521.2	myelin protein P0 isoform MPZ precursor
NM_001315491.2	NP_001302420.1	myelin protein P0 isoform L-MPZ precursor

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in cell aggregation	IMP IMP: Inferred from mutant phenotype	18337304	GOA
involved in cell-cell adhesion via plasma-membrane adhesion molecules	IMP IMP: Inferred from mutant phenotype	18337304	GOA
involved in myelination	IMP IMP: Inferred from mutant phenotype	10545037	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	18337304	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MPZ Protein Structure

V-set

Myelin-PO_C

0
100
200
248 a.a.

Protein Preferred Names	Protein Names
myelin protein P0	Charcot-Marie-Tooth neuropathy 1B

Recombinant MPZ Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70328	Myelin protein P0/MPZ Protein, Human (HEK293, His)	P25189-1 (I30-R153)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	Charcot-Marie-Tooth Disease Type 1b CMT1B Hereditary Motor And Sensory Neuropathy Ib Hmsn Ib Hmsn1b Peroneal Muscular Atrophy Charcot-Marie-Tooth Disease, Type 1b Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Disease, Type Ib Hereditary Motor And Sensory Neuropathy I Hmsn I Hmsn1 Charcot-Marie-Tooth Neuropathy, Type 1b Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b Charcot-Marie-Tooth Disease 1b Charcot-Marie-Tooth Disease Demyelinating Type 1b Hmsn Type I Hereditary Motor And Sensory Neuropathy Type I Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2i	CMT2I Charcot-Marie-Tooth Disease, Type 2i Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Neuropathy Type 2i Charcot-Marie-Tooth Neuropathy, Type 2i Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i Charcot-Marie-Tooth Disease 2i Charcot-Marie-Tooth Disease Axonal Type 2i Charcot-Marie-Tooth Disease Neuronal Type 2i
Charcot-Marie-Tooth Disease, Axonal, Type 2j	CMT2J Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease Type 2j Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities Charcot-Marie-Tooth Neuropathy Type 2j Charcot-Marie-Tooth Neuropathy, Type 2j Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j Charcot-Marie-Tooth Disease 2j Charcot-Marie-Tooth Disease Axonal Type 2j Charcot-Marie-Tooth Disease Neuronal Type 2j
Charcot-Marie-Tooth Disease, Dominant Intermediate D	CMTDID Charcot-Marie-Tooth Disease Dominant Intermediate D Di-Cmtd Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D Charcot-Marie-Tooth Neuropathy Dominant Intermediate D Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D
Roussy-Levy Hereditary Areflexic Dystasia	Roussy-Levy Syndrome Roussy-Lévy Syndrome Charcot-Marie-Tooth Disease Roussy Levy Syndrome Charcot-Marie-Tooth-Roussy-Levy Disease Hmsn I Hereditary Motor Sensory Neuropathy I Hereditary Areflexic Dystasia Roussy Levy Hereditary Areflexic Dystasia Roussy-Levy Disease Hereditary Areflexic Dystasia, Roussy-Levy Type ROULS Hereditary Motor And Sensory Neuropathy Type I
Neuropathy, Congenital Hypomyelinating, 2	Hypomyelinating Neuropathy, Congenital, 2 CHN2
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease With Neuropathic Pain	Autosomal Dominant Intermediate Cmt Disease With Neuropathic Pain
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Sensory Peripheral Neuropathy	Sensory Neuropathy Peripheral Sensory Neuropathy Hereditary Sensory And Autonomic Neuropathies
Chronic Inflammatory Demyelinating Polyradiculoneuropathy	Chronic Inflammatory Demyelinating Polyneuropathy Cidp Polyradiculoneuropathy Chronic Inflammatory Demyelinating Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Keratoderma, Palmoplantar, With Nail Dystrophy And Hereditary Motor-Sensory Neuropathy	Axonal Neuropathy With Palmoplantar Keratoderma Charcot-Marie-Tooth Disease With Palmoplantar Keratoderma And Nail Dystrophy Keratoderma Palmoplantar Spastic Paralysis Palmoplantar Keratoderma-Spastic Paralysis Syndrome Powell-Venencie-Gordon Syndrome Palmoplantar Hyperkeratosis-Spastic Paralysis Syndrome Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome Palmoplantar Keratoderma-Charcot-Marie-Tooth Syndrome Powell Venencie Gordon Syndrome
Neuritis	Peripheral Neuritis
Guillain-Barre Syndrome	Guillain-Barré Syndrome Acute Inflammatory Polyneuropathy Gbs Acute Inflammatory Demyelinating Polyneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Infective Polyneuritis Acute Inflammatory Demyelinating Polyradiculopathy Acute Postinfectious Polyneuropathy Infectious Neuronitis Post-Infectious Polyneuritis Postinfectious Polyneuritis Acute Autoimmune Peripheral Neuropathy Acute Immune-Mediated Polyneuropathy Acute Inflammatory Neuropathy Guillain-Barré-Strohl Syndrome Landry'S Ascending Paralysis Landry-Guillain-Barre-Strohl Syndrome Post-Infective Polyneuritis Acute Infectious Polyneuritis Fisher Syndrome Landry-Guillain-Barre Syndrome Guillain-Barre-Strohl Syndrome Variant Of Guillain-Barre Syndrome Variant Of Gbs Aidp Acute Idiopathic Demyelinating Polyneuropathy Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Miller Fisher Syndrome
Genetic Motor Neuron Disease	Genetic Anterior Horn Cell Disease
Adie Pupil	Adie Syndrome Holmes-Adie Syndrome Poorly Reacting Pupils Adie'S Pupil Or Syndrome Adie'S Pupil Syndrome Adie'S Syndrome Adie'S Pupil Has Tonic, Sluggishly Reacting Pupil And Hypoactive Or Absent Tendon Reflexes Tonic Pupil-Tendon Areflexia Syndrome ADIEP Tonic Pupil
Hereditary Neuropathies	Hereditary Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease Type 1a CMT1A Charcot-Marie-Tooth Disease, Type Ia Hmsn1a Hereditary Motor And Sensory Neuropathy Ia Hmsn Ia Charcot-Marie-Tooth Neuropathy, Type 1a Charcot-Marie-Tooth Disease, Type 1a Charcot-Marie-Tooth Neuropathy Type 1a Hereditary Motor And Sensory Neuropathy 1a Microduplication 17p12 Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a Cmt 1a Charcot Marie Tooth Disease Type 1a Hmsn 1a Charcot-Marie-Tooth Disease 1a Charcot-Marie-Tooth Disease Demyelinating Type 1a Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Polyradiculoneuropathy
Wallerian Degeneration	Wallerian Degeneration Of The Pyramidal Tract
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Polyneuropathy	Polyneuropathies
Optic Neuritis	Inflammatory Optic Neuropathy
Demyelinating Disease	Demyelinating Diseases Demyelinating Disorder
Neuropathy, Hereditary, With Liability To Pressure Palsies	Tomaculous Neuropathy Hereditary Neuropathy With Liability To Pressure Palsies HNPP Polyneuropathy, Familial Recurrent Neuropathy, Recurrent, With Pressure Palsies Current Pressure-Sensitive Neuropathy Familial Recurrent Polyneuropathy Heterozygous Microdeletion 17p11.2p12 Potato-Grubbing Palsy Tulip-Bulb Digger'S Palsy Compression Neuropathy Entrapment Neuropathy Familial Pressure Sensitive Neuropathy Hereditary Motor And Sensory Neuropathy Hereditary Pressure Sensitive Neuropathy Inherited Tendency To Pressure Palsies Hereditary Liability To Pressure Palsies Nerve Compression Syndrome Entrapment Neuropathies Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease Type X
Diabetic Neuropathy	Diabetic Neuropathies
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	Charcot-Marie-Tooth Disease Type 1c CMT1C Hmsn1c Hmsn Ic Charcot-Marie-Tooth Disease, Type 1c Charcot-Marie-Tooth Neuropathy Type 1c Cmt, Slow Nerve Conduction Type C Charcot-Marie-Tooth Neuropathy, Type 1c Neuropathy, Hereditary Motor And Sensory, Type Ic Cmt Slow Nerve Conduction Type C Neuropathy Hereditary Motor And Sensory Type 1c Charcot-Marie-Tooth Disease 1c Charcot-Marie-Tooth Disease Demyelinating Type 1c Hereditary Motor And Sensory Neuropathy Ic Charcot-Marie-Tooth Disease, Type Ic
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	Charcot-Marie-Tooth Disease Type 1d CMT1D Hmsn Id Hmsn1d Charcot-Marie-Tooth Disease, Type 1d Hereditary Motor And Sensory Neuropathy 1d Charcot-Marie-Tooth Neuropathy Type 1d Charcot-Marie-Tooth Neuropathy, Type 1d Charcot-Marie-Tooth Disease 1d Charcot-Marie-Tooth Disease Demyelinating Type 1d Hereditary Motor And Sensory Neuropathy Id Charcot-Marie-Tooth Disease, Type Id
Charcot-Marie-Tooth Disease, Type 4c	Charcot-Marie-Tooth Disease Type 4c CMT4C Charcot-Marie-Tooth Neuropathy Type 4c Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c Charcot-Marie-Tooth Neuropathy, Type 4c Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c Charcot-Marie-Tooth Disease 4c Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Carpal Tunnel Syndrome	Cts Carpal Tunnel Syndrome, Familial Carpal Tunnel Syndrome 1 CTS1 Amyotrophy, Thenar, Of Carpal Origin Carpal Tunnel Median Neuropathy Cts - Carpal Tunnel Syndrome Median Nerve Entrapment Carpal Canal Carpal Tunnel Compression Neuropathy, Carpal Tunnel Distal Median Nerve Compression Distal Median Nerve Entrapment Entrapment Neuropathy, Carpal Tunnel Median Neuropathy, Carpal Tunnel Median Neuropathy Carpal Tunnel Thenar Amyotrophy Of Crapal Origin
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	Charcot-Marie-Tooth Disease Type 1f CMT1F Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Neuropathy Type 1f Charcot-Marie-Tooth Neuropathy, Type 1f Charcot-Marie-Tooth Disease Type 2b5 Ar-Cmt2b5 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 Seoan Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency Charcot-Marie-Tooth Disease 1f Charcot-Marie-Tooth Disease Demyelinating Type 1f Charcot-Marie-Tooth Disease, Type If
Argyll Robertson Pupil	Atypical Argyll-Robertson Pupil Argyll Robertson Phenomenon Or Pupil, Nonsyphilitic Argyll Robertson Pupil, Atypical
Abnormal Pupillary Function
Autoimmune Peripheral Neuropathy
Charcot-Marie-Tooth Disease, Axonal, Type 2b	Charcot-Marie-Tooth Disease Type 2b CMT2B Hmsn Iib Hmsn2b Charcot-Marie-Tooth Disease, Type 2b Hereditary Motor And Sensory Neuropathy Iib Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Neuropathy Type 2b Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b Charcot-Marie-Tooth Neuropathy, Type 2b Hereditary Motor And Sensory Nueropathy Iib Cmt 2b Charcot Marie Tooth Disease Type 2b Charcot-Marie-Tooth Disease, Neuronal, Type 2b Hereditary Motor And Sensory Neuropathy 2 B Peripheral Sensory Neuropathy, Autosomal Dominant Charcot-Marie-Tooth Disease 2b Charcot-Marie-Tooth Disease Axonal Type 2b Charcot-Marie-Tooth Disease Neuronal Type 2b Peripheral Sensory Neuropathy Autosomal Dominant Psn
Charcot-Marie-Tooth Disease, Axonal, Type 2a1	CMT2A1 Charcot-Marie-Tooth Disease Type 2a1 Hereditary Motor And Sensory Neuropathy Iia1 Hmsn Iia1 Hmsn2a1 Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease Neuronal Type 2a1 Charcot-Marie-Tooth Neuropathy Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 Charcot-Marie-Tooth Neuropathy, Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Charcot-Marie-Tooth Disease 2a1 Charcot-Marie-Tooth Disease Axonal Type 2a1
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Multiple Sclerosis	MS Multiple Sclerosis, Susceptibility To Disseminated Sclerosis Multiple Sclerosis, Disease Progression, Modifier Of Insular Sclerosis Multiple Sclerosis Modifier Of Disease Progression Multiple Sclerosis, Susceptibility To 1 Multiple Sclerosis, Susceptibility To, 1 Multiple Sclerosis 1 Generalized Multiple Sclerosis Multiple Sclerosis Variant Multiple Sclerosis Susceptibility To Cerebrospinal Sclerosis Generalised Multiple Sclerosis Ms - [Multiple Sclerosis] Disseminated Cerebrospinal Sclerosis Disseminated Multiple Sclerosis Disseminated Nervous System Myelosclerosis Multiple Cerebrospinal Sclerosis Multiple Combined Sclerosis Multiple Sclerosis Generalised Disseminated Brain Sclerosis Disseminated Spinal Sclerosis Insular Brain Sclerosis Miliary Brain Sclerosis Multiple Combined Sclerosis Of Spinal Cord Multiple Ascending Sclerosis Multiple Brain Sclerosis Multiple Sclerosis Of Brain Stem Multiple Sclerosis Of The Brain Stem Multiple Sclerosis Of Cord Sclérose En Plaques Plaque Sclerosis Multiple Sclerosis Of The Spinal Cord
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Charcot-Marie-Tooth Disease, Axonal, Type 2b2	Charcot-Marie-Tooth Disease Type 2b2 CMT2B2 Arcmt2b Charcot-Marie-Tooth Disease, Type 2b2 Ar-Cmt2b2 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 Autosomal Recessive Axonal Cmt4c3 Charcot-Marie-Tooth Disease Neuronal Type 2b2 Charcot-Marie-Tooth Neuropathy Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 Charcot-Marie-Tooth Neuropathy, Type 2b2 Charcot-Marie-Tooth Disease 2b2 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 Charcot-Marie-Tooth Disease Axonal Type 2b2
Hereditary Motor And Sensory Neuropathy, Type Iic	CMT2C Charcot-Marie-Tooth Disease Axonal Type 2c HMSN2C Hmsn Iic Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Neuropathy Type 2c Hereditary Motor And Sensory Neuropathy Type Iic Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c Charcot-Marie-Tooth Neuropathy, Type 2c Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease 2c Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c Charcot-Marie-Tooth Disease, Type 2c
Deafness, Autosomal Dominant 7	DFNA7 Autosomal Dominant Nonsyndromic Deafness 7 Autosomal Dominant Deafness 7 Deafness, Autosomal Dominant, 7 Deafness, Autosomal Dominant, Type 7
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Pupil Disease	Pupil Disorders Pupillary Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2f	Charcot-Marie-Tooth Disease Axonal Type 2f CMT2F Charcot-Marie-Tooth Disease, Neuronal, Type 2f Charcot-Marie-Tooth Neuropathy, Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Neuropathy Type 2f Charcot-Marie-Tooth Neuronal Type 2f Charcot-Marie-Tooth Disease Type 2f Cmt 2f Charcot Marie Tooth Disease Type 2f Charcot-Marie-Tooth Disease 2f Charcot-Marie-Tooth Disease Neuronal Type 2f Charcot-Marie-Tooth Disease, Type 2f
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Charcot-Marie-Tooth Disease, Axonal, Type 2d	Charcot-Marie-Tooth Disease Type 2d CMT2D Charcot-Marie-Tooth Disease, Type 2d Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d Charcot-Marie-Tooth Disease Neuronal Type 2d Charcot-Marie-Tooth Neuropathy Type 2d Charcot-Marie-Tooth Disease, Neuronal, Type 2d Charcot-Marie-Tooth Neuropathy, Type 2d Charcot-Marie-Tooth Disease 2d Charcot-Marie-Tooth Disease Axonal Type 2d
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f	Charcot-Marie-Tooth Disease Type 4f CMT4F Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease 4f Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f Charcot-Marie-Tooth Neuropathy Type 4f Dejerine-Sottas Disease
Charcot-Marie-Tooth Disease, Type 4a	Charcot-Marie-Tooth Disease Type 4a CMT4A Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a Charcot-Marie-Tooth Neuropathy, Type 4a Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a Charcot-Marie-Tooth Neuropathy Type 4a Charcot-Marie-Tooth Disease 4a Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a Charcot-Marie-Tooth Disease Neuropathy Type 4a
Charcot-Marie-Tooth Disease, Dominant Intermediate B	CMTDIB Charcot-Marie-Tooth Disease Dominant Intermediate B Di-Cmtb Cmtdi1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m Charcot-Marie-Tooth Neuropathy Dominant Intermediate B CMT2M Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B Charcot-Marie-Tooth Disease, Axonal Type 2m Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Charcot-Marie-Tooth Disease 2m Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m Charcot-Marie-Tooth Disease Axonal Type 2m Charcot-Marie-Tooth Neuropathy Axonal Type 2m Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B Charcot-Marie-Tooth Disease, Axonal, Type 2m Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Gamstorp-Wohlfart Syndrome Autosomal Recessive Axonal Neuropathy With Neuromyotonia NMAN Myokymia, Myotonia, And Muscle Wasting Aran-Nm Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia Autosomal Recessive Neuromyotonia And Axonal Neuropathy Arcmt2-Nm Myokymia, Myotonia And Muscle Wasting Myokymia Myotonia And Muscle Wasting Isaacs Syndrome
Chromosome 10q23 Deletion Syndrome
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
Charcot-Marie-Tooth Disease Dominant Intermediate A	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A Cmtdia Charcot-Marie-Tooth Neuropathy Dominant Intermediate A Di-Cmta Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A
Charcot-Marie-Tooth Disease Type 1g	Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 Pmp2-Related Cmt1 Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1 Cmt1g
Autoimmune Neuropathy
Charcot-Marie-Tooth Disease, Axonal, Type 2l	Charcot-Marie-Tooth Disease Axonal Type 2l CMT2L Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy Axonal Type 2l Charcot-Marie-Tooth Disease 2l Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l Charcot-Marie-Tooth Disease Neuronal Type 2l Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Disease, Type 2l Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 4b2	Charcot-Marie-Tooth Disease Type 4b2 CMT4B2 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 Charcot-Marie-Tooth Neuropathy, Type 4b2 Charcot-Marie-Tooth Neuropathy Type 4b2 Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2 Cmt 4b2 Charcot Marie Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease 4b2 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	HSAN1C Hsan Ic Hsn1c Hsn Ic Hereditary Sensory And Autonomic Neuropathy Type 1c Neuropathy, Hereditary Sensory And Autonomic, Type 1c Neuropathy, Hereditary Sensory, Type Ic Hereditary Sensory And Autonomic Neuropathy Type Ic Neuropathy, Hereditary Sensory And Autonomic, 1c Hereditary Sensory Neuropathy Type Ic Neuropathy, Hereditary Sensory/Autonomic, Type Ic Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
Tarsal Tunnel Syndrome	Neuropathy Of The Posterior Tibial Nerve And Its Branches Posterior Tibial Nerve Neuralgia Compression Of Posterior Tibial Nerve In Tarsal Tunnel
Charcot-Marie-Tooth Disease, Type 4d	Charcot-Marie-Tooth Disease Type 4d CMT4D Hmsnl Hmsn4d Charcot-Marie-Tooth Neuropathy Type 4d Hereditary Motor And Sensory Neuropathy Lom Type Hmsn-Lom Neuropathy, Hereditary Motor And Sensory, Lom Type Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d Charcot-Marie-Tooth Neuropathy, Type 4d Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d Hmsn Lom Type Hmsn, Lom Type Hereditary Motor And Sensory Neuropathy, Lom Type Charcot-Marie-Tooth Disease 4d Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d Hereditary Motor And Sensory Neuropathy Ivd Hmsn Ivd
Peroneal Neuropathy	Peroneal Neuropathies
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Charcot-Marie-Tooth Disease, Dominant Intermediate C	CMTDIC Charcot-Marie-Tooth Disease Dominant Intermediate C Di-Cmtc Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C Charcot-Marie-Tooth Neuropathy Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
Charcot-Marie-Tooth Disease, Dominant Intermediate F	CMTDIF Charcot-Marie-Tooth Disease Dominant Intermediate F Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F
Brachial Plexus Neuropathy	Brachial Plexopathy Brachial Plexus Neuropathies Brachial Plexus Disorder Bpn - [Brachial Plexus Neuropathy] Brachial Plexus Disease Neuropathic Plexus Brachialis Brachial Plexus Syndrome Brachial Plexus Irritation Brachial Plexus Lesion Brachial Plexus Pressure Compression Of Brachial Plexus
Tibial Neuropathy	Posterior Tibial Neuropathy
Leukodystrophy	Leukodystrophies
Charcot-Marie-Tooth Disease, Type 4j	Charcot-Marie-Tooth Disease Type 4j CMT4J Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j Charcot-Marie-Tooth Disease 4j
Charcot-Marie-Tooth Disease, Type 4h	Charcot-Marie-Tooth Disease Type 4h CMT4H Charcot-Marie-Tooth Neuropathy Type 4h Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h Charcot-Marie-Tooth Neuropathy, Type 4h Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h Charcot-Marie-Tooth Disease 4h Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
Charcot-Marie-Tooth Disease, Type 4b1	Charcot-Marie-Tooth Disease Type 4b1 CMT4B1 Cmt4b Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Disease Type 4b Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 Charcot-Marie-Tooth Neuropathy, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1 Charcot-Marie-Tooth Disease 4b1 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Charcot-Marie-Tooth Disease, Dominant Intermediate E	CMTDIE Charcot-Marie-Tooth Disease Dominant Intermediate E Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E Charcot-Marie-Tooth Disease-Nephropathy Syndrome Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
Amyotrophic Neuralgia	Neuralgic Amyotrophy Brachial Plexus Neuritis Neuralgic Shoulder Amyotrophy Acute Brachial Plexus Neuritis Immune Brachial Plexus Neuropathy Mononeuritis Multiplex With Brachial Predilection Parsonage-Turner Syndrome
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Charcot-Marie-Tooth Disease Type 2a2b	Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency Ar-Cmt2, Ouvrier Type Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type Seoan Due To Mfn2 Deficiency Charcot-Marie-Tooth Disease, Axonal, Type 2a2b Cmt2a2b Charcot-Marie-Tooth Disease, Type 2a2b
Mononeuropathy	Mononeuropathies
Plexopathy
Charcot-Marie-Tooth Disease, Axonal, Type 2p	CMT2P Charcot-Marie-Tooth Disease Axonal Type 2p Charcot-Marie-Tooth Disease Type 2p Charcot-Marie-Tooth Neuropathy, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly Cmt2g, Formerly Charcot-Marie-Tooth Neuropathy Type 2p Charcot-Marie-Toothe Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease 2p Charcot-Marie-Tooth Disease, Axonal Type 2g Charcot-Marie-Tooth Neuropathy Axonal Type 2p Cmt2g Charcot-Marie-Tooth Disease, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2g
Charcot-Marie-Tooth Disease, Axonal, Type 2n	Charcot-Marie-Tooth Disease Axonal Type 2n CMT2N Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Neuropathy Axonal Type 2n Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease 2n Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n Charcot-Marie-Tooth Disease, Type 2n
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a
Ulnar Neuropathy	Ulnar Neuropathies
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	CMTX2 Charcot-Marie-Tooth Disease X-Linked Recessive 2 X-Linked Charcot-Marie-Tooth Disease Type 2 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2 Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Nerve Compression Syndrome	Entrapment Neuropathies Compression Neuropathy Entrapment Neuropathy Peripheral Nerve Entrapment Syndrome Nerve Compression Syndromes Hereditary Liability To Pressure Palsies
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Neuropathy, Hereditary Sensory, Type Ie	HSN1E Hsn Ie Hereditary Sensory Neuropathy Type 1e Hereditary Sensory Neuropathy Type Ie Hsan 1 Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia Hereditary Sensory Neuropathy Type 1 Hsn1 Hereditary Sensory And Autonomic Neuropathy Type 1 Neuropathy Hereditary Sensory And Autonomic Type 1 Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Neuropathy, Hereditary Sensory, 1e Neuropathy Hereditary Sensory With Hearing Loss And Dementia Neuropathy, Hereditary Sensory, Type I Neuropathy, Sensory, Hereditary, Type Ie Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory Autonomic Neuropathy, Type 1
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08633	MPZ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22082	Mpz Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MPZ	RGD	RGD:3109
Mus musculus	MPZ	MGD	MGI:103177
Canis familiaris	MPZ	VGNC	VGNC:43353
Macaca mulatta	MPZ	VGNC	VGNC:74923
Bos taurus	MPZ	VGNC	VGNC:31591
Others	MPZ	NCBI