CMT4A
MCID: CHR517
MIFTS: 46

Charcot-Marie-Tooth Disease, Type 4a (CMT4A)

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Type 4a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Type 4a:

Name: Charcot-Marie-Tooth Disease, Type 4a 57 29 13 6 39 70
Charcot-Marie-Tooth Disease Type 4a 12 73 20 58 15
Cmt4a 57 12 20 58 72
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a 57
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a 72
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a 12
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive 20
Charcot-Marie-Tooth Disease Neuropathy Type 4a 72
Charcot-Marie-Tooth Neuropathy, Type 4a 57
Charcot-Marie-Tooth Neuropathy Type 4a 12
Charcot Marie Tooth Disease Type 4a 20
Charcot-Marie-Tooth Disease 4a 72

Characteristics:

Orphanet epidemiological data:

58
charcot-marie-tooth disease type 4a
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
usually begins in feet and legs (peroneal distribution)
upper limb involvement usually occurs later
onset before age 2 years
may progress to involve proximal muscles
rapid progression to disability
axonal features may coexist (normal ncv, axonal degeneration on biopsy)


HPO:

31
charcot-marie-tooth disease, type 4a:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset rapidly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110185
OMIM® 57 214400
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
MESH via Orphanet 45 C535419
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1859198
Orphanet 58 ORPHA99948
MedGen 41 C1859198
UMLS 70 C1859198

Summaries for Charcot-Marie-Tooth Disease, Type 4a

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 4A: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4a, also known as charcot-marie-tooth disease type 4a, is related to charcot-marie-tooth disease, type 4h and charcot-marie-tooth disease, type 4c. An important gene associated with Charcot-Marie-Tooth Disease, Type 4a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Affiliated tissues include eye and brain, and related phenotypes are kyphoscoliosis and motor delay

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.

OMIM® : 57 By convention, the designation CMT4 is applied to autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease, which is a peripheral neuropathy characterized by distal motor and sensory impairment resulting in gait difficulties and associated with foot deformities. Motor nerve conduction velocities are decreased, and sural nerve biopsies show loss of myelinated fibers. The age at onset and severity is variable (summary by Patzko and Shy, 2012). (214400) (Updated 20-May-2021)

Wikipedia : 73 Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... more...

Related Diseases for Charcot-Marie-Tooth Disease, Type 4a

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Type 4a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4h 32.3 SH3TC2 SBF2 PRX MTMR2 MPZ GDAP1
2 charcot-marie-tooth disease, type 4c 31.9 SH3TC2 SBF2 MTMR2 MPZ LITAF GJB1
3 neuropathy, hereditary motor and sensory, russe type 31.5 SH3TC2 GDAP1 EGR2
4 charcot-marie-tooth disease, type 4k 31.5 SH3TC2 LITAF
5 charcot-marie-tooth disease, type 4b1 31.1 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
6 charcot-marie-tooth disease, axonal, type 2a1 30.8 MPZ MFN2 KIF1B HSPB8 GDAP1
7 charcot-marie-tooth disease, axonal, type 2k 30.7 HSPB8 GDAP1
8 charcot-marie-tooth disease, type 4j 30.6 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
9 charcot-marie-tooth disease, demyelinating, type 4f 30.4 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
10 charcot-marie-tooth disease, type 4d 30.1 SH3TC2 SBF2 PRX MTMR2 MPZ LITAF
11 charcot-marie-tooth disease, type 4b2 28.7 SH3TC2 SBF2 PRX MTMR2 MPZ MFN2
12 neuropathy, congenital hypomyelinating, 1, autosomal recessive 27.9 SH3TC2 SBF2 PRX PMP2 MTMR2 MPZ
13 tooth disease 27.1 SH3TC2 SBF2 PRX PMP2 MTMR2 MPZ
14 neuropathy 27.1 SH3TC2 SBF2 PRX PMP2 MTMR2 MPZ
15 peripheral nervous system disease 26.7 SH3TC2 SBF2 PRX PMP2 MTMR2 MPZ
16 charcot-marie-tooth disease 26.7 SH3TC2 SBF2 PRX PMP2 MTMR2 MPZ
17 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 11.6
18 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 10.9
19 gdap1-related hereditary motor and sensory neuropathy 10.5
20 neuroblastoma 10.3
21 mitochondrial disorders 10.3
22 early-onset glaucoma 10.3 SBF2 MTMR2
23 charcot-marie-tooth disease, axonal, type 2b1 10.2 MFN2 GDAP1
24 slowed nerve conduction velocity, autosomal dominant 10.2 MPZ GJB1
25 mfn2 hereditary motor and sensory neuropathy 10.2 MFN2 KIF1B
26 charcot-marie-tooth disease type 2a 10.2 MFN2 KIF1B
27 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 10.2 MFN2 LITAF
28 charcot-marie-tooth disease, axonal, type 2t 10.2 SH3TC2 GDAP1
29 yunis-varon syndrome 10.2 SBF2 MTMR2 GDAP1
30 genetic motor neuron disease 10.2 SH3TC2 MPZ MFN2
31 autoimmune neuropathy 10.1 PMP2 MPZ
32 mononeuropathy 10.1 SH3TC2 MPZ
33 neuropathy, hereditary sensory and autonomic, type ic 10.1 SH3TC2 LITAF
34 charcot-marie-tooth disease, axonal, type 2w 10.1 MPZ GJB1 GDAP1
35 brachial plexus neuropathy 10.1 MPZ GJB1
36 pupil disease 10.1 MPZ GDAP1 EGR2
37 argyll robertson pupil 10.1 MPZ GDAP1 EGR2
38 abnormal pupillary function 10.1 MPZ GDAP1 EGR2
39 nerve compression syndrome 10.1 SH3TC2 MPZ
40 autoimmune peripheral neuropathy 10.1 PMP2 MPZ GJB1
41 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1 EGR2
42 charcot-marie-tooth disease, recessive intermediate a 10.0 MFN2 HSPB8 GDAP1
43 charcot-marie-tooth disease x-linked recessive 4 10.0 MPZ GJB1
44 neuronopathy, distal hereditary motor, type iic 10.0 LITAF HSPB8
45 charcot-marie-tooth disease type 5 10.0 PRX GARS1
46 spinal muscular atrophy with lower extremity predominance 10.0 GDAP1 GARS1
47 neuritis 9.9 PMP2 MPZ GJB1
48 cortical dysplasia, complex, with other brain malformations 6 9.9 LITAF GDAP1
49 myopathy, centronuclear, x-linked 9.9 SBF2 MTMR2 DNM2
50 charcot-marie-tooth disease, axonal, type 2n 9.9 GDAP1 GARS1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Type 4a:



Diseases related to Charcot-Marie-Tooth Disease, Type 4a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Type 4a

Human phenotypes related to Charcot-Marie-Tooth Disease, Type 4a:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 kyphoscoliosis 31 frequent (33%) HP:0002751
2 motor delay 31 HP:0001270
3 areflexia 31 HP:0001284
4 split hand 31 HP:0001171
5 hyporeflexia 31 HP:0001265
6 decreased motor nerve conduction velocity 31 HP:0003431
7 hammertoe 31 HP:0001765
8 distal muscle weakness 31 HP:0002460
9 distal sensory impairment 31 HP:0002936
10 distal amyotrophy 31 HP:0003693
11 cns hypomyelination 31 HP:0003429
12 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
13 axonal degeneration 31 HP:0040078
14 inability to walk by childhood/adolescence 31 HP:0006915
15 peripheral axonal degeneration 31 HP:0000764
16 peripheral hypomyelination 31 HP:0007182
17 hypertrophic nerve changes 31 HP:0003382
18 ulnar claw 31 HP:0001178
19 basal lamina onion bulb formation 31 HP:0003400

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
inability to walk by childhood/adolescence
hypertrophic nerve changes
more
Skeletal Spine:
kyphoscoliosis (in some patients)

Skeletal Hands:
claw hand deformities (in severe cases)

Skeletal Feet:
foot deformities (in some patients)

Clinical features from OMIM®:

214400 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Type 4a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 DNM2 EGR2 GARS1 GDAP1 GJB1 HSPB8
2 homeostasis/metabolism MP:0005376 9.7 DNM2 EGR2 GDAP1 GJB1 HSPB8 KIF1B
3 nervous system MP:0003631 9.5 DNM2 EGR2 GARS1 GDAP1 GJB1 HSPB8

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Type 4a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075

Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 4a

Genetic Tests for Charcot-Marie-Tooth Disease, Type 4a

Genetic tests related to Charcot-Marie-Tooth Disease, Type 4a:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4a 29 GDAP1

Anatomical Context for Charcot-Marie-Tooth Disease, Type 4a

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 4a:

40
Eye, Brain

Publications for Charcot-Marie-Tooth Disease, Type 4a

Articles related to Charcot-Marie-Tooth Disease, Type 4a:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 57 61 6
11743579 2002
2
Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations. 61 6
29372391 2018
3
Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K. 6 61
28495047 2017
4
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential. 61 6
21965300 2012
5
Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells. 61 6
21890626 2011
6
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. 6 61
20849849 2011
7
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. 6 61
21199105 2010
8
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. 6 61
20685671 2010
9
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. 61 6
20232219 2010
10
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease. 61 6
18021315 2008
11
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. 6 61
15805163 2005
12
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect. 61 6
15377708 2004
13
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. 6 61
14561495 2003
14
CMT4A: identification of a Hispanic GDAP1 founder mutation. 6 61
12601710 2003
15
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 6 61
12499475 2002
16
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. 61 6
11743580 2002
17
Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. 57 61
9933296 1998
18
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. 61 57
8268915 1993
19
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants. 6
28244113 2017
20
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain. 6
28751717 2017
21
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration. 6
28220846 2017
22
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course. 6
26525999 2016
23
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. 6
25231362 2015
24
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 6
25429913 2014
25
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 6
25614874 2014
26
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. 6
23963299 2014
27
Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission. 6
23628762 2013
28
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan. 6
23466821 2013
29
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland. 6
23456260 2013
30
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. 6
22971097 2012
31
Charcot-Marie-Tooth disease and related genetic neuropathies. 57
22810069 2012
32
Genetic spectrum of hereditary neuropathies with onset in the first year of life. 6
21840889 2011
33
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. 6
21753178 2011
34
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations. 6
21692914 2011
35
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review. 6
21212451 2011
36
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 6
22206013 2011
37
[Hereditary motor and sensory neuropathy type 4A]. 6
21322820 2010
38
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. 6
19782751 2009
39
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. 6
19500985 2009
40
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. 6
18812441 2008
41
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. 6
18492089 2008
42
Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene. 6
18991200 2008
43
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. 6
18504680 2008
44
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. 6
18421898 2007
45
GDAP1 mutations in Czech families with early-onset CMT. 6
17433678 2007
46
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease]. 6
15192818 2004
47
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. 6
12707075 2003
48
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. 6
12566285 2003
49
GDAP1 mutations in CMT4: axonal and demyelinating phenotypes?: The exception "proves the rule". 57
12499472 2002
50
Genetic and clinical aspects of Charcot-Marie-Tooth's disease. 57
4430158 1974

Variations for Charcot-Marie-Tooth Disease, Type 4a

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Type 4a:

6 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDAP1 NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) SNV Pathogenic 4190 rs121908112 GRCh37: 8:75262788-75262788
GRCh38: 8:74350553-74350553
2 GDAP1 NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) SNV Pathogenic 467768 rs1554548334 GRCh37: 8:75276228-75276228
GRCh38: 8:74363993-74363993
3 GDAP1 NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) Microsatellite Pathogenic 467764 rs1221804567 GRCh37: 8:75274135-75274136
GRCh38: 8:74361900-74361901
4 GDAP1 NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del Deletion Pathogenic 598944 GRCh37:
GRCh38:
5 GDAP1 NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) SNV Pathogenic 4195 rs28937906 GRCh37: 8:75276369-75276369
GRCh38: 8:74364134-74364134
6 GDAP1 NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter) SNV Pathogenic 849494 GRCh37: 8:75276342-75276342
GRCh38: 8:74364107-74364107
7 GDAP1 NM_018972.4(GDAP1):c.310+1G>A SNV Pathogenic 937106 GRCh37: 8:75263702-75263702
GRCh38: 8:74351467-74351467
8 GDAP1 NM_018972.4(GDAP1):c.618dup (p.Lys207fs) Duplication Pathogenic 962881 GRCh37: 8:75275211-75275212
GRCh38: 8:74362976-74362977
9 GDAP1 NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter) SNV Pathogenic 963756 GRCh37: 8:75263641-75263641
GRCh38: 8:74351406-74351406
10 GDAP1 NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) SNV Pathogenic 245607 rs139808557 GRCh37: 8:75272460-75272460
GRCh38: 8:74360225-74360225
11 GDAP1 NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) SNV Pathogenic 4191 rs104894075 GRCh37: 8:75275175-75275175
GRCh38: 8:74362940-74362940
12 GDAP1 NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) SNV Pathogenic 38411 rs281865060 GRCh37: 8:75272408-75272408
GRCh38: 8:74360173-74360173
13 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 GRCh37: 8:75276240-75276240
GRCh38: 8:74364005-74364005
14 GDAP1 NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) SNV Pathogenic 242508 rs281865060 GRCh37: 8:75272408-75272408
GRCh38: 8:74360173-74360173
15 GDAP1 NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) SNV Pathogenic 217229 rs745663149 GRCh37: 8:75272434-75272434
GRCh38: 8:74360199-74360199
16 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 GRCh37: 8:75274121-75274121
GRCh38: 8:74361886-74361886
17 GDAP1 NM_018972.4(GDAP1):c.579+1G>A SNV Pathogenic 220379 rs864622501 GRCh37: 8:75274214-75274214
GRCh38: 8:74361979-74361979
18 GDAP1 NM_018972.4(GDAP1):c.786del (p.Phe263fs) Deletion Pathogenic 406136 rs1060500978 GRCh37: 8:75276308-75276308
GRCh38: 8:74364073-74364073
19 GDAP1 NM_018972.4(GDAP1):c.579del (p.Lys193fs) Deletion Pathogenic 406137 rs1060500979 GRCh37: 8:75274211-75274211
GRCh38: 8:74361976-74361976
20 GDAP1 NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) Duplication Pathogenic 406140 rs756461496 GRCh37: 8:75276540-75276541
GRCh38: 8:74364305-74364306
21 GDAP1 NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) SNV Pathogenic 467773 rs775622226 GRCh37: 8:75276336-75276336
GRCh38: 8:74364101-74364101
22 GDAP1 NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) SNV Pathogenic 535790 rs1554547986 GRCh37: 8:75274205-75274205
GRCh38: 8:74361970-74361970
23 GDAP1 NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) SNV Pathogenic 569560 rs761035569 GRCh37: 8:75262808-75262808
GRCh38: 8:74350573-74350573
24 GDAP1 NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) SNV Pathogenic 4202 rs121908114 GRCh37: 8:75275286-75275286
GRCh38: 8:74363051-74363051
25 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 GRCh37: 8:75274121-75274121
GRCh38: 8:74361886-74361886
26 GDAP1 NM_018972.4(GDAP1):c.368A>G (p.His123Arg) SNV Pathogenic 50558 rs397515442 GRCh37: 8:75272429-75272429
GRCh38: 8:74360194-74360194
27 GDAP1 NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) SNV Pathogenic 4199 rs104894079 GRCh37: 8:75272530-75272530
GRCh38: 8:74360295-74360295
28 GDAP1 NM_018972.4(GDAP1):c.116del (p.Lys39fs) Deletion Pathogenic 637504 rs778547659 GRCh37: 8:75262809-75262809
GRCh38: 8:74350574-74350574
29 GDAP1 NM_018972.4(GDAP1):c.767A>G (p.His256Arg) SNV Pathogenic 618662 rs1476856429 GRCh37: 8:75276292-75276292
GRCh38: 8:74364057-74364057
30 GDAP1 NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) SNV Pathogenic 245608 rs770501034 GRCh37: 8:75276294-75276294
GRCh38: 8:74364059-74364059
31 GDAP1 NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) Indel Pathogenic 637547 rs1586795216 GRCh37: 8:75263565-75263567
GRCh38: 8:74351330-74351332
32 GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) SNV Pathogenic 4198 rs104894078 GRCh37: 8:75272419-75272419
GRCh38: 8:74360184-74360184
33 GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) SNV Pathogenic 4198 rs104894078 GRCh37: 8:75272419-75272419
GRCh38: 8:74360184-74360184
34 GDAP1 NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) SNV Pathogenic/Likely pathogenic 406135 rs538412810 GRCh37: 8:75272519-75272519
GRCh38: 8:74360284-74360284
35 GDAP1 NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) SNV Likely pathogenic 802414 rs936681187 GRCh37: 8:75272416-75272416
GRCh38: 8:74360181-74360181
36 GDAP1 NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) SNV Likely pathogenic 245933 rs879254005 GRCh37: 8:75272437-75272437
GRCh38: 8:74360202-74360202
37 GDAP1 NM_018972.4(GDAP1):c.311-1790_408del Deletion Likely pathogenic 406138 GRCh37: 8:75270580-75272467
GRCh38: 8:74358345-74360232
38 GDAP1 NM_018972.4(GDAP1):c.710C>G (p.Pro237Arg) SNV Uncertain significance 406139 rs763963750 GRCh37: 8:75276235-75276235
GRCh38: 8:74364000-74364000
39 GDAP1 NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr) SNV Uncertain significance 467770 rs778105019 GRCh37: 8:75276279-75276279
GRCh38: 8:74364044-74364044
40 GDAP1 NM_018972.4(GDAP1):c.653A>G (p.Gln218Arg) SNV Uncertain significance 467767 rs556827873 GRCh37: 8:75275247-75275247
GRCh38: 8:74363012-74363012
41 GDAP1 NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg) SNV Uncertain significance 216706 rs863224774 GRCh37: 8:75263560-75263560
GRCh38: 8:74351325-74351325
42 GDAP1 NM_018972.4(GDAP1):c.614T>C (p.Leu205Ser) SNV Uncertain significance 241292 rs878855054 GRCh37: 8:75275208-75275208
GRCh38: 8:74362973-74362973
43 GDAP1 NM_018972.4(GDAP1):c.694+5G>A SNV Uncertain significance 241293 rs752550394 GRCh37: 8:75275293-75275293
GRCh38: 8:74363058-74363058
44 GDAP1 NM_018972.4(GDAP1):c.385G>A (p.Asp129Asn) SNV Uncertain significance 467760 rs1279013936 GRCh37: 8:75272446-75272446
GRCh38: 8:74360211-74360211
45 GDAP1 NM_018972.4(GDAP1):c.770G>A (p.Arg257Gln) SNV Uncertain significance 467771 rs1425323007 GRCh37: 8:75276295-75276295
GRCh38: 8:74364060-74364060
46 GDAP1 NM_018972.4(GDAP1):c.161A>G (p.His54Arg) SNV Uncertain significance 467757 rs1441803924 GRCh37: 8:75263552-75263552
GRCh38: 8:74351317-74351317
47 GDAP1 NM_018972.4(GDAP1):c.430C>A (p.Pro144Thr) SNV Uncertain significance 467761 rs570990910 GRCh37: 8:75272491-75272491
GRCh38: 8:74360256-74360256
48 GDAP1 NM_018972.4(GDAP1):c.680A>G (p.Asn227Ser) SNV Uncertain significance 641738 rs1026680509 GRCh37: 8:75275274-75275274
GRCh38: 8:74363039-74363039
49 GDAP1 NM_018972.4(GDAP1):c.904T>G (p.Ser302Ala) SNV Uncertain significance 655484 rs1586807478 GRCh37: 8:75276429-75276429
GRCh38: 8:74364194-74364194
50 overlap with 4 genes NC_000008.10:g.(?_74888497)_(75274233_?)dup Duplication Uncertain significance 658994 GRCh37: 8:74888497-75274233
GRCh38: 8:73976262-74361998

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 4a:

72
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg120Gln VAR_017184 rs117493317
2 GDAP1 p.Arg161His VAR_017185 rs104894076

Expression for Charcot-Marie-Tooth Disease, Type 4a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 4a.

Pathways for Charcot-Marie-Tooth Disease, Type 4a

GO Terms for Charcot-Marie-Tooth Disease, Type 4a

Cellular components related to Charcot-Marie-Tooth Disease, Type 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 SBF2 PRX PMP2 MTMR2 LITAF KIF1B
2 myelin sheath GO:0043209 9.26 PMP2 MPZ
3 vacuolar membrane GO:0005774 9.16 SBF2 MTMR2
4 axon GO:0030424 9.02 SBF2 MTMR2 KIF1B GARS1 DNM2

Biological processes related to Charcot-Marie-Tooth Disease, Type 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 9.32 MFN2 GDAP1
2 mitochondrial fission GO:0000266 9.26 GDAP1 DNM2
3 mitochondrial fusion GO:0008053 9.16 MFN2 GDAP1
4 peripheral nervous system myelin maintenance GO:0032287 8.96 SH3TC2 PRX
5 myelination GO:0042552 8.8 SBF2 MPZ EGR2

Molecular functions related to Charcot-Marie-Tooth Disease, Type 4a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 8.62 LITAF DNM2

Sources for Charcot-Marie-Tooth Disease, Type 4a

3 CDC
7 CNVD
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10 dbSNP
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17 EFO
18 ExPASy
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28 GO
29 GTR
30 HMDB
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61 PubMed
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71 UMLS via Orphanet
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