CMT4A
MCID: CHR517
MIFTS: 39

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

Categories: Genetic diseases, Metabolic diseases, Muscle 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 58 30 13 6 41 74
Charcot-Marie-Tooth Disease Type 4a 12 77 54 60 15
Cmt4a 58 12 54 60 76
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a 58
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a 76
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a 12
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive 54
Charcot-Marie-Tooth Disease Neuropathy Type 4a 76
Charcot-Marie-Tooth Neuropathy, Type 4a 58
Charcot-Marie-Tooth Neuropathy Type 4a 12
Charcot Marie Tooth Disease Type 4a 54
Charcot-Marie-Tooth Disease 4a 76

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 4a
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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
rapid progression to disability


HPO:

33
charcot-marie-tooth disease, type 4a:
Onset and clinical course rapidly progressive infantile onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110185
OMIM 58 214400
MeSH 45 D002607
ICD10 34 G60.0
MESH via Orphanet 46 C535419
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1859198
Orphanet 60 ORPHA99948
MedGen 43 C1859198
UMLS 74 C1859198

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

UniProtKB/Swiss-Prot : 76 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 4b1 and charcot-marie-tooth disease, type 4j. An important gene associated with Charcot-Marie-Tooth Disease, Type 4a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). The drugs protease inhibitors and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Related phenotypes are kyphoscoliosis and decreased motor nerve conduction velocity

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 : 58 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)

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... 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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
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 all 32)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4b1 32.0 GDAP1 MTMR2 PRX SBF2
2 charcot-marie-tooth disease, type 4j 31.6 MTMR2 SBF2
3 charcot-marie-tooth disease, axonal, type 2k 31.2 DNAJB2 GDAP1 HSPB8
4 charcot-marie-tooth disease, demyelinating, type 4f 30.6 GDAP1 MTMR2 PRX SBF2 TDP1
5 charcot-marie-tooth disease, type 4b2 30.6 GDAP1 MTMR2 PRX SBF2 TDP1
6 tooth disease 30.1 GDAP1 HSPB8 MTMR2 PRX SBF2
7 charcot-marie-tooth disease 28.8 DNAJB2 GDAP1 HSPB8 MTMR2 PMP2 PRX
8 charcot-marie-tooth disease, type 4c 11.9
9 charcot-marie-tooth disease, type 4h 11.9
10 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 11.6
11 charcot-marie-tooth disease type 2g 11.6
12 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.2
13 charcot-marie-tooth disease, axonal, type 2a1 11.0
14 charcot-marie-tooth disease, type 4d 11.0
15 neuropathy, hereditary motor and sensory, russe type 11.0
16 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a 11.0
17 charcot-marie-tooth disease, type 4k 11.0
18 charcot-marie-tooth disease type 2k 10.4
19 charcot-marie-tooth disease, demyelinating, type 1a 10.1 GDAP1 MTMR2
20 axonal neuropathy 10.1 GDAP1 TDP1
21 early-onset glaucoma 10.1 MTMR2 SBF2
22 neuropathy, hereditary, with liability to pressure palsies 10.0 GDAP1 MTMR2
23 hypertrophic neuropathy of dejerine-sottas 9.9 GDAP1 MTMR2 PRX
24 charcot-marie-tooth disease, type 4b3 9.9 GDAP1 MTMR2 SBF2
25 sensory peripheral neuropathy 9.9 GDAP1 MTMR2 PRX
26 peripheral nervous system disease 9.9 GDAP1 MTMR2 PRX
27 charcot-marie-tooth disease, axonal, type 2h 9.9 DNAJB2 GDAP1
28 charcot-marie-tooth disease and deafness 9.9 GDAP1 MTMR2
29 spinal and bulbar muscular atrophy, x-linked 1 9.6 DNAJB2 HSPB8
30 neuropathy 9.6 GDAP1 PRX SBF2 TDP1
31 spinocerebellar ataxia type 1 with axonal neuropathy 9.6 MTMR2 PRX SBF2 TDP1
32 charcot-marie-tooth disease, axonal, type 2e 9.4 DNAJB2 GDAP1 MTMR2 SBF2

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:

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
hypertrophic nerve changes
inability to walk by childhood/adolescence
more
Skeletal Hands:
claw hand deformities (in severe cases)

Skeletal Spine:
kyphoscoliosis may occur

Skeletal Feet:
foot deformities may occur

Clinical features from OMIM:

214400

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 GDAP1 MTMR2 PMP2 PRX SBF2 TDP1
2 nervous system MP:0003631 9.1 GDAP1 MTMR2 PMP2 PRX SBF2 TDP1

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

Drugs for Charcot-Marie-Tooth Disease, Type 4a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
protease inhibitors
2 4-des-dimethylaminotetracycline
3 Matrix Metalloproteinase Inhibitors
4 HIV Protease Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others Recruiting 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 30 GDAP1

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

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

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

(show all 13)
# Title Authors Year
1
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family. ( 26848201 )
2015
2
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential. ( 21965300 )
2012
3
A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families. ( 18062449 )
2007
4
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. ( 15772096 )
2005
5
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. ( 15805163 )
2005
6
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. ( 12707075 )
2003
7
CMT4A: identification of a Hispanic GDAP1 founder mutation. ( 12601710 )
2003
8
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. ( 11743579 )
2002
9
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. ( 12499475 )
2002
10
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. ( 11743580 )
2002
11
Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. ( 9933296 )
1998
12
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. ( 8530038 )
1995
13
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. ( 8268915 )
1993

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

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

76
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg120Gln VAR_017184 rs117493317
2 GDAP1 p.Arg161His VAR_017185 rs104894076

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

6 (show top 50) (show all 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.3(GDAP1): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs121908112 GRCh37 Chromosome 8, 75262788: 75262788
2 GDAP1 NM_018972.3(GDAP1): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs121908112 GRCh38 Chromosome 8, 74350553: 74350553
3 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
4 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh38 Chromosome 8, 74362940: 74362940
5 GDAP1 NM_018972.3(GDAP1): c.482G> A (p.Arg161His) single nucleotide variant Pathogenic rs104894076 GRCh37 Chromosome 8, 75272543: 75272543
6 GDAP1 NM_018972.3(GDAP1): c.482G> A (p.Arg161His) single nucleotide variant Pathogenic rs104894076 GRCh38 Chromosome 8, 74360308: 74360308
7 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh37 Chromosome 8, 75274121: 75274121
8 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh38 Chromosome 8, 74361886: 74361886
9 GDAP1 NM_018972.3(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
10 GDAP1 NM_018972.3(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh38 Chromosome 8, 74360184: 74360184
11 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
12 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
13 GDAP1 NM_018972.3(GDAP1): c.692C> T (p.Pro231Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908114 GRCh37 Chromosome 8, 75275286: 75275286
14 GDAP1 NM_018972.3(GDAP1): c.692C> T (p.Pro231Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121908114 GRCh38 Chromosome 8, 74363051: 74363051
15 GDAP1 NM_018972.3(GDAP1): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs281865060 GRCh37 Chromosome 8, 75272408: 75272408
16 GDAP1 NM_018972.3(GDAP1): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs281865060 GRCh38 Chromosome 8, 74360173: 74360173
17 GDAP1 NM_018972.3(GDAP1): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs397515442 GRCh37 Chromosome 8, 75272429: 75272429
18 GDAP1 NM_018972.3(GDAP1): c.368A> G (p.His123Arg) single nucleotide variant Pathogenic rs397515442 GRCh38 Chromosome 8, 74360194: 74360194
19 GDAP1 NM_018972.3(GDAP1): c.248G> C (p.Gly83Ala) single nucleotide variant Uncertain significance rs371138642 GRCh37 Chromosome 8, 75263639: 75263639
20 GDAP1 NM_018972.3(GDAP1): c.248G> C (p.Gly83Ala) single nucleotide variant Uncertain significance rs371138642 GRCh38 Chromosome 8, 74351404: 74351404
21 GDAP1 NM_018972.3(GDAP1): c.169A> C (p.Ser57Arg) single nucleotide variant Uncertain significance rs863224774 GRCh37 Chromosome 8, 75263560: 75263560
22 GDAP1 NM_018972.3(GDAP1): c.169A> C (p.Ser57Arg) single nucleotide variant Uncertain significance rs863224774 GRCh38 Chromosome 8, 74351325: 74351325
23 GDAP1 NM_018972.3(GDAP1): c.556A> G (p.Ile186Val) single nucleotide variant Uncertain significance rs148508128 GRCh38 Chromosome 8, 74361955: 74361955
24 GDAP1 NM_018972.3(GDAP1): c.556A> G (p.Ile186Val) single nucleotide variant Uncertain significance rs148508128 GRCh37 Chromosome 8, 75274190: 75274190
25 GDAP1 NM_018972.3(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh38 Chromosome 8, 74360199: 74360199
26 GDAP1 NM_018972.3(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh37 Chromosome 8, 75272434: 75272434
27 GDAP1 NM_018972.3(GDAP1): c.579+1G> A single nucleotide variant Pathogenic rs864622501 GRCh37 Chromosome 8, 75274214: 75274214
28 GDAP1 NM_018972.3(GDAP1): c.579+1G> A single nucleotide variant Pathogenic rs864622501 GRCh38 Chromosome 8, 74361979: 74361979
29 GDAP1 NM_018972.3(GDAP1): c.694+5G> A single nucleotide variant Uncertain significance rs752550394 GRCh38 Chromosome 8, 74363058: 74363058
30 GDAP1 NM_018972.3(GDAP1): c.614T> C (p.Leu205Ser) single nucleotide variant Uncertain significance rs878855054 GRCh37 Chromosome 8, 75275208: 75275208
31 GDAP1 NM_018972.3(GDAP1): c.614T> C (p.Leu205Ser) single nucleotide variant Uncertain significance rs878855054 GRCh38 Chromosome 8, 74362973: 74362973
32 GDAP1 NM_018972.3(GDAP1): c.694+5G> A single nucleotide variant Uncertain significance rs752550394 GRCh37 Chromosome 8, 75275293: 75275293
33 GDAP1 NM_018972.3(GDAP1): c.1045T> C (p.Leu349=) single nucleotide variant Likely benign rs368943246 GRCh37 Chromosome 8, 75276570: 75276570
34 GDAP1 NM_018972.3(GDAP1): c.1045T> C (p.Leu349=) single nucleotide variant Likely benign rs368943246 GRCh38 Chromosome 8, 74364335: 74364335
35 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh37 Chromosome 8, 75263707: 75263707
36 GDAP1 NM_018972.2(GDAP1): c.310+6delG deletion Conflicting interpretations of pathogenicity rs780828430 GRCh38 Chromosome 8, 74351472: 74351472
37 GDAP1 NM_018972.3(GDAP1): c.399G> A (p.Met133Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139808557 GRCh38 Chromosome 8, 74360225: 74360225
38 GDAP1 NM_018972.3(GDAP1): c.399G> A (p.Met133Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139808557 GRCh37 Chromosome 8, 75272460: 75272460
39 GDAP1 NM_018972.3(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh38 Chromosome 8, 74361906: 74361906
40 GDAP1 NM_018972.3(GDAP1): c.507T> G (p.Ser169=) single nucleotide variant Benign rs11554166 GRCh37 Chromosome 8, 75274141: 75274141
41 GDAP1 NM_018972.3(GDAP1): c.693A> T (p.Pro231=) single nucleotide variant Conflicting interpretations of pathogenicity rs181157785 GRCh37 Chromosome 8, 75275287: 75275287
42 GDAP1 NM_018972.3(GDAP1): c.693A> T (p.Pro231=) single nucleotide variant Conflicting interpretations of pathogenicity rs181157785 GRCh38 Chromosome 8, 74363052: 74363052
43 GDAP1 NM_018972.3(GDAP1): c.458C> T (p.Pro153Leu) single nucleotide variant Likely pathogenic rs538412810 GRCh37 Chromosome 8, 75272519: 75272519
44 GDAP1 NM_018972.3(GDAP1): c.458C> T (p.Pro153Leu) single nucleotide variant Likely pathogenic rs538412810 GRCh38 Chromosome 8, 74360284: 74360284
45 GDAP1 NM_018972.2(GDAP1): c.579delA (p.Lys193Asnfs) deletion Pathogenic rs1060500979 GRCh37 Chromosome 8, 75274213: 75274213
46 GDAP1 NM_018972.2(GDAP1): c.579delA (p.Lys193Asnfs) deletion Pathogenic rs1060500979 GRCh38 Chromosome 8, 74361978: 74361978
47 GDAP1 NM_018972.2(GDAP1): c.786delG (p.Phe263Leufs) deletion Pathogenic/Likely pathogenic rs1060500978 GRCh37 Chromosome 8, 75276311: 75276311
48 GDAP1 NM_018972.2(GDAP1): c.786delG (p.Phe263Leufs) deletion Pathogenic/Likely pathogenic rs1060500978 GRCh38 Chromosome 8, 74364076: 74364076
49 GDAP1 NM_018972.3(GDAP1): c.216C> T (p.Asn72=) single nucleotide variant Likely benign rs760859999 GRCh38 Chromosome 8, 74351372: 74351372
50 GDAP1 NM_018972.3(GDAP1): c.216C> T (p.Asn72=) single nucleotide variant Likely benign rs760859999 GRCh37 Chromosome 8, 75263607: 75263607

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 9.23 DNAJB2 GDAP1 HSPB8 MTMR2 PMP2 PRX
2 vacuolar membrane GO:0005774 8.96 MTMR2 SBF2

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 tetramerization GO:0051262 8.32 SBF2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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