FIG4 - FIG4 phosphoinositide 5-phosphatase Gene

Homo sapiens

Also known as YVS; BTOP; SAC3; ALS11; CMT4J; KIAA0274; dJ249I4.1

Gene ID: 9896 | Gene type: protein coding

About FIG4

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:109,691,296-109,825,426 (from NCBI)

This gene has 63 transcripts (splice variants), 205 orthologues, 13 paralogues and is associated with 9 phenotypes. Ubiquitous expression in brain (RPKM 6.2), lung (RPKM 4.8) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 Amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide Phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin Cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]

FIG4 Products(1)

mRNA	Protein	Name
NM_014845.6	NP_055660.1	polyphosphoinositide phosphatase

FIG4 Protein Structure

Syja_N

0
200
400
600
800
907 a.a.

Protein Preferred Names

Protein Names

polyphosphoinositide phosphatase

FIG4 homolog, SAC domain containing lipid phosphatase

Related Diseases

Diseases

Alias

Polymicrogyria, Bilateral Temporooccipital

Bilateral Parasagittal Parieto-Occipital Polymicrogyria	BTOP
Bilateral Temporooccipital Polymicrogyria	Polymicrogyria

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

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón Syndrome

Amyotrophic Lateral Sclerosis 11

Amyotrophic Lateral Sclerosis Type 11	ALS11
Sclerosis, Lateral, Amyotrophic, Type Type 11

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

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

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

Penis Agenesis

Micropenis	Agenesis Of The Penis
Penis Agenesia

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Polymicrogyria

Pmg

Cleidocranial Dysplasia

Cleidocranial Dysostosis	CLCD
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only	Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
CCD	Marie-Sainton Disease
Dysplasia Cleidocranial	Dento-Osseous Dysplasia
Marie-Sainton Syndrome	Dysplasia, Cleidocranial

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

Lateral Sclerosis

Primary Lateral Sclerosis	Adult-Onset Primary Lateral Sclerosis
Adult-Onset Pls	Motor Neuron Disease
Pls	Pls - [Primary Lateral Sclerosis]
Lateral Spinal Sclerosis	Lateral Complete Paralysis
Lateral Incomplete Paralysis	Lateral Paralysis

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 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

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

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Amyotrophic Lateral Sclerosis Type 12

Amyotrophic Lateral Sclerosis 12	Als12
Sclerosis, Lateral, Amyotrophic, Type Type 12

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

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

Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly

SRTD10	Short-Rib Thoracic Dysplasia 10 Without Polydactyly
Short Rib-Polydactyly Syndrome

Developmental And Epileptic Encephalopathy 53

DEE53	Epileptic Encephalopathy, Early Infantile, 53
Eiee53	Developmental And Epileptic Encephalopathy, 53
Early Infantile Epileptic Encephalopathy 53

Amyotrophic Lateral Sclerosis 18

Amyotrophic Lateral Sclerosis Type 18	ALS18
Sclerosis, Lateral, Amyotrophic, Type 18

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 10	ALS10
Amyotrophic Lateral Sclerosis 10, With Or Without Ftd	Frontotemporal Lobar Degeneration, Tardbp-Related
Amyotrophic Lateral Sclerosis 10	Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions	Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions
Sclerosis, Lateral, Amyotrophic, Type Type 10

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

Amyotrophic Lateral Sclerosis Type 14

Als14	Amyotrophic Lateral Sclerosis 14
Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive	Als6
Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia	Autosomal Recessive Amyotrophic Lateral Sclerosis 6
Sclerosis, Lateral, Amyotrophic, Type Type 6	Amyotrophic Lateral Sclerosis 6

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 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

Amyotrophic Lateral Sclerosis 8

Amyotrophic Lateral Sclerosis Type 8	ALS8
Sclerosis, Lateral, Amyotrophic, Type Type 8

Syndromic X-Linked Intellectual Disability Hedera Type

Mental Retardation, X-Linked, Syndromic, Hedera Type	Mrxe
Mrxsh

Amyotrophic Lateral Sclerosis 20

Amyotrophic Lateral Sclerosis Type 20	ALS20
Sclerosis, Lateral, Amyotrophic, Type 20

Amyotrophic Lateral Sclerosis Type 15

Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia	Als15
Amyotrophic Lateral Sclerosis 15

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

Parkinson Disease 20, Early-Onset

Early-Onset Parkinson Disease 20	PARK20
Parkinson'S Disease 20	Early-Onset Parkinson'S Disease 20
Parkinson Disease, Type 20, Early-Onset

Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4	ALS4
Amyotrophic Lateral Sclerosis 4	Dhmn With Upper Motor Neuron Signs
Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs	Neuronopathy, Distal Hereditary Motor, With Pyramidal Features
Als 4	Distal Hereditary Motor Neuropathy With Pyramidal Features
Amyotrophic Lateral Sclerosis Juvenile 4	Neuronopathy Distal Hereditary Motor With Pyramidal Features
Sclerosis, Lateral, Amyotrophic, Type Type 4

Amyotrophic Lateral Sclerosis 21

Amyotrophic Lateral Sclerosis Type 21	ALS21
Multisystem Proteinopathy 5	Msp5
Distal Myopathy With Vocal Cord Weakness	Vcpdm
Myopathy, Distal, 2, Formerly	Mpd2, Formerly
Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly	Vcpdm, Formerly
Vocal Cord And Pharyngeal Distal Myopathy	Matr3-Related Distal Myopathy
Distal Myopathy 2	Mpd2
Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy	Sclerosis, Lateral, Amyotrophic, Type 21
Myopathy, Distal 2

Neuropathy, Hereditary Motor And Sensory, Russe Type

Charcot-Marie-Tooth Disease Type 4g	HMSNR
Cmt4g	Hereditary Motor And Sensory Neuropathy, Russe Type
Charcot-Marie-Tooth Disease, Type 4g	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g
Charcot-Marie-Tooth Neuropathy Type 4g	Charcot-Marie-Tooth Neuropathy, Type 4g
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g	Hereditary Motor And Sensory Neuropathy Russe Type
Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g

Striatonigral Degeneration

Amyotrophic Lateral Sclerosis 16, Juvenile

Amyotrophic Lateral Sclerosis Type 16	ALS16
Amyotrophic Lateral Sclerosis 16	Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

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

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

Corneal Dystrophy, Fleck

Fleck Corneal Dystrophy	Fcd
CFD	Corneal Fleck Dystrophy
Francois-Neetens Speckled Corneal Dystrophy	Corneal Dystrophy, Francois-Neetens Speckled Or Flecked
Corneal Dystrophy Francois-Neetens Speckled Or Flecked	Dystrophy, Corneal, Fleck

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, 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

Charcot-Marie-Tooth Disease Type X

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

Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B	Hmn Viib
Dhmn7b	Neuropathy, Distal Hereditary Motor, Type Viib
Distal Hereditary Motor Neuronopathy Type 7b	Distal Hereditary Motor Neuropathy Type Viib
Neuronopathy, Distal Hereditary Motor, Type 7b	Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib
Lower Motor Neuron Disease, Dynactin Type	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b
Harper-Young Myopathy	Neuronopathy, Distal Hereditary Motor, 7b
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib	Lower Motor Neuron Disease Dynactin Type
Plmnd	Progressive Lower Motor Neuron Disease
Neuropathy, Motor, Distal, Hereditary, Type Viib

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

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Smard1	DSMA1
Sianrf	Dhmn6
Spinal Muscular Atrophy With Respiratory Distress 1	HMN6
Severe Infantile Axonal Neuropathy With Respiratory Failure	Autosomal Recessive Distal Spinal Muscular Atrophy 1
Diaphragmatic Spinal Muscular Atrophy	Spinal Muscular Atrophy With Respiratory Distress Type 1
Neuronopathy, Distal Hereditary Motor, Type Vi	Hmn Vi
Neuronopathy, Severe Infantile Axonal, With Respiratory Failure	Distal Spinal Muscular Atrophy 1
Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress	Distal Hereditary Motor Neuropathy Type 6
Distal-Hmn Type 6	Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1
Spinal Muscular Atrophy, Diaphragmatic	Distal Hereditary Motor Neuronopathy Type Vi
Distal Spinal Muscular Atrophy Type 1	Hmnvi
Spinal Muscular Atrophy With Respiratory Distress	Autosomal Recessive Distal Spinal Muscular Atrophy Type 1
Neuronopathy, Distal Hereditary Motor, 6	Dhmn Vi
Distal Hereditary Motor Neuropathy Type Vi	Severe Infantile Axonal Neuronopathy With Respiratory Failure
Spinal Muscular Atrophy Distal Autosomal Recessive 1	Atrophy, Muscular, Spinal, Distal, Type 1

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

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

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1	Frontotemporal Dementia And/Or Motor Neuron Disease
Ftdmnd	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia
Alsftd	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1	Frontotemporal Dementia With Motor Neuron Disease
Ftdals	Ftd-Als
Ftd-Mnd	Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1	Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1
Frontotemporal Lobar Degeneration	Grn-Related Frontotemporal Dementia

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

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FIG4	VGNC	VGNC:97438
Bos taurus	FIG4	VGNC	VGNC:29008
Macaca mulatta	FIG4	VGNC	VGNC:72518
Canis familiaris	FIG4	VGNC	VGNC:40879
Rattus norvegicus	FIG4	RGD	RGD:1311375
Mus musculus	FIG4	MGD	MGI:2143585