MTM1 - myotubularin 1 Gene

Also Known as CNM; CNMX; MTMX; XLMTM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4534

About MTM1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:150,562,653-150,673,143 (from NCBI)

This gene has 26 transcripts (splice variants), 220 orthologues, 13 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 3.7) and 25 other tissues.

Summary

This gene encodes a dual-specificity Phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]

MTM1 Products (4)

mRNA Protein Name
NM_000252.3 NP_000243.1 myotubularin isoform 1
NM_001376906.1 NP_001363835.1 myotubularin isoform 2
NM_001376907.1 NP_001363836.1 myotubularin isoform 3
NM_001376908.1 NP_001363837.1 myotubularin isoform 1
Molecular Function GO Annotation Evidence References Source
enables intermediate filament binding IDA
IDA: Inferred from direct assay
21135508 GOA
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
14722070 GOA
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
IDA: Inferred from direct assay
12646134 GOA
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
IDA: Inferred from direct assay
10900271 GOA
enables phosphoprotein phosphatase activity IDA
IDA: Inferred from direct assay
9537414 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12847286 GOA
Biological Process GO Annotation Evidence References Source
involved in endosome to lysosome transport IDA
IDA: Inferred from direct assay
14722070 GOA
involved in intermediate filament organization IMP
IMP: Inferred from mutant phenotype
21135508 GOA
involved in mitochondrion distribution IMP
IMP: Inferred from mutant phenotype
21135508 GOA
involved in mitochondrion organization IDA
IDA: Inferred from direct assay
21135508 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: Inferred from direct assay
10900271 GOA
involved in protein dephosphorylation IDA
IDA: Inferred from direct assay
9537414 GOA
involved in regulation of vacuole organization IDA
IDA: Inferred from direct assay
14722070 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
10900271 GOA
located in filopodium IDA
IDA: Inferred from direct assay
12118066 GOA
located in late endosome IDA
IDA: Inferred from direct assay
14722070 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
12118066 GOA
located in ruffle IDA
IDA: Inferred from direct assay
12118066 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

MTM1 Protein Structure

GRAM

GRAM: GRAM domain (34 - 96)

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (157 - 488)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 603 a.a.
Protein Preferred Names Protein Names

myotubularin

  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase

MTM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MTM1 Q13496 DES Homo sapiens P17661 21135508
Intra
MTM1 Q13496 DES Homo sapiens P17661 21135508
Intra
MTM1 Q13496 DES Homo sapiens P17661 21135508
Intra
MTM1 Q13496 DES Homo sapiens P17661 21135508
Intra
MTM1 Q13496 DES Homo sapiens P17661 21135508
Intra
MTM1 Q13496 MTMR12 Homo sapiens Q9C0I1 12847286
Intra
MTM1 Q13496 MTMR12 Homo sapiens Q9C0I1
IF
12847286
Intra
MTM1 Q13496 MTMR12 Homo sapiens Q9C0I1 12847286
Cross
MTM1 Q13496 Des Mus musculus P31001 21135508
Cross
MTM1 Q13496 Des Mus musculus P31001 21135508
Intra
MTM1 Q13496 EXOC4 Homo sapiens Q96A65 26760201
Intra
MTM1 Q13496 BIN1 Homo sapiens O00499 23917616
Intra
MTM1 Q13496 BIN1 Homo sapiens O00499 23917616
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Myopathy, Centronuclear, X-Linked
  • X-Linked Myotubular Myopathy

  • Xlmtm

  • X-Linked Centronuclear Myopathy

  • Xlcnm

  • CNMX

  • Mtm1

  • Myotubular Myopathy, X-Linked

  • Mtmx

  • Myotubular Myopathy 1

  • Centronuclear Myopathy X-Linked

  • Myotubular Myopathy

  • Mtm

  • Cnm

  • Xmtm

  • Myotubular Myopathy Type 1

Respiratory System Disease
  • Abnormality Of The Respiratory System

  • Respiration Disorders

  • Respiratory Tract Diseases

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Polyhydramnios
Myopathy
  • Muscular Diseases

  • Myopathies

Primary Microcephaly
  • True Microcephaly

  • Microcephaly, Primary

Myotubular Myopathy With Abnormal Genital Development
  • X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome

  • Xq28 Contiguous Gene Deletion Syndrome

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

Batten-Turner Congenital Myopathy
  • Congenital Myopathy

  • Batten Turner Congenital Myopathy

  • Myopathy Congenital

  • Myopathy, Congenital

  • Myotonia Congenita

  • Benign Congenital Myopathy

Peliosis Hepatis
  • Hepatic Peliosis

  • Telangiectasis Of Liver

  • Angiomatosis Of Liver

  • Ph - [Peliosis Hepatis]

  • Hepatic Angiomatosis

Myopathy, Centronuclear, 1
  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1

Inflammatory Bowel Disease 21
  • IBD21

Infective Endocarditis
  • Bacterial Endocarditis

  • Endocarditis, Infective

  • Infectious Endocarditis

  • Endocarditis Infective

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

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Multiminicore Disease
  • Multiminicore Myopathy

  • Mmd

  • Minicore Disease

  • Minicore Myopathy

  • Multi-Core Congenital Myopathy

  • Multi-Core Disease

  • Multi-Minicore Disease

  • Multicore Disease

  • Multicore Myopathy

  • Minicore Myopathy With External Ophthalmoplegia

Sensory Peripheral Neuropathy
  • Sensory Neuropathy

  • Peripheral Sensory Neuropathy

  • Hereditary Sensory And Autonomic Neuropathies

Inflammatory Bowel Disease 8
  • IBD8

Myotonic Dystrophy 1
  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy

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

Myopathy, Centronuclear, 2
  • Myopathy, Centronuclear, Autosomal Recessive

  • Autosomal Recessive Centronuclear Myopathy

  • CNM2

  • Centronuclear Myopathy 2

  • Ar-Cnm

  • Myotubular Myopathy, Autosomal Recessive

  • Autosomal Recessive Myotubular Myopathy

  • Centronuclear Myopathy Autosomal Recessive

  • Myopathy, Centronuclear, Type 2

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

Endocardium Disease
Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

King-Denborough Syndrome
  • King Denborough Syndrome

  • King Syndrome

  • Kousseff Nichols Syndrome

  • KDS

  • Noonan Like Contracture Myopathy Hyperpyrexia

  • Anesthetic-Induced Malignant Hyperpyrexia In Children

  • Koussef-Nichols Syndrome

Limb-Girdle Muscular Dystrophy
  • Lgmd

  • Limb Girdle Muscular Dystrophy

  • Muscular Dystrophies, Limb-Girdle

  • Erb'S Muscular Dystrophy

  • Leyden-Mbius Muscular Dystrophy

  • Limb-Girdle Syndrome

  • Myopathic Limb-Girdle Syndrome

  • Limb Girdle

  • Muscular Dystrophy Limb-Girdle

  • Dystrophy, Muscular, Limb-Girdle

  • Lgmd - [Limb-Girdle Muscular Dystrophy]

  • Limb Girdle Muscle Dystrophy

  • Limb-Girdle Myopathy

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

Central Core Disease Of Muscle
  • Central Core Disease

  • Central Core Myopathy

  • CCD

  • Cco

  • Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

  • Myopathy, Central Core

  • Shy-Magee Syndrome

  • Muscle Core Disease

  • Muscular Central Core Disease

  • Myopathy, Central Fibrillar

  • Shy'S Disease

  • Moderate Multiminicore Disease With Hand Involvement

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

Ocular Motility Disease
  • Ocular Motility Disorders

  • Abnormality Of Eye Movement

  • Disorder Of Eye Movements

  • Eye Movement Disorder

  • Eye Movement Disorders

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Dentin Caries
  • Compound Dental Caries

  • Dental Caries Extending Into Dentine

  • Dental Caries Extending Into Dentin

Myopathy, Myofibrillar, 9, With Early Respiratory Failure
  • Hereditary Myopathy With Early Respiratory Failure

  • Hmerf

  • Myopathy, Proximal, With Early Respiratory Muscle Involvement

  • Edstrom Myopathy

  • Mfm-Titinopathy

  • MFM9

  • Mprm

  • Hereditary Inclusion Body Myopathy With Early Respiratory Failure

  • Hibm-Erf

  • Myofibrillar Myopathy-Titinopathy

  • Myofibrillar Myopathy With Early Respiratory Failure

  • Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

  • Myofibrillar Myopathy 9

  • Myofibrillar Myopathy 9 With Early Respiratory Failure

  • Autosomal Dominant Distal Myopathy With Early Respiratory Failure

  • Proximal Myopathy With Early Respiratory Muscle Involvement

  • Hereditary Proximal Myopathy With Early Respiratory Failure

  • Admerf

  • Edström Myopathy

  • Hmerf-Erf

Muscle Tissue Disease
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

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Brachial Plexus Neuritis
  • Brachial Neuritis

  • Parsonage-Aldren-Turner Syndrome

Capillary Malformations, Congenital
  • Familial Multiple Nevi Flammei

  • Nevi Flammei, Familial Multiple

  • CMC

  • Port-Wine Stain

  • Capillary Malformations

  • Cmal

  • Familial Multiple Port-Wine Stains

  • Capillary Malformation

  • Capillary Malformations, Congenital, 1, Somatic, Mosaic

  • Congenital Capillary Malformations

  • Port-Wine Stain Familial Multiple

  • Hereditary Capillary Malformations

  • Capillary Malformations, Hereditary

  • Capillary Malformations, Congenital, Type 1, Somatic, Mosaic

  • Strawberry Nevus Of Skin

  • Naevus Flammeus

Muscular Disease
Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

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

Bethlem Myopathy 1
  • Bethlem Myopathy

  • Myopathy, Benign Congenital, With Contractures

  • Muscular Dystrophy, Benign Congenital

  • BTHLM1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

  • Lgmdd5

  • Benign Congenital Muscular Dystrophy

  • Benign Autosomal Dominant Myopathy

  • Myopathy, Bethlem

  • Myopathy, Bethlem, Type 1

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Hypotonia
Malignant Hyperthermia
  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever

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

Isolated Elevated Serum Creatine Phosphokinase Levels
  • Elevated Serum Cpk

  • Idiopathic Hyperckemia

  • Isolated Hyperckemia

  • Elevated Serum Creatine Phosphokinase

  • H-Ck

  • Idiopathic Persistent Elevation Of Serum Creatine Kinase

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta MTM1 VGNC VGNC:75071
Bos taurus MTM1 VGNC VGNC:31735
Felis catus MTM1 VGNC VGNC:68343
Mus musculus MTM1 MGD MGI:1099452
Canis familiaris MTM1 VGNC VGNC:43477
Rattus norvegicus MTM1 RGD RGD:1304582
Others MTM1 NCBI