CMT4A
MCID: CHR517
MIFTS: 40

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases

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

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

Name: Charcot-Marie-Tooth Disease, Type 4a 54 13 69
Charcot-Marie-Tooth Disease Type 4a 12 50 24 56 14
Cmt4a 12 50 24 56 66
Charcot-Marie-Tooth Neuropathy Type 4a 12 24
Charcot-Marie-Tooth Disease 4a 66 29
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a 66
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a 12
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive 50
Charcot-Marie-Tooth Disease Neuropathy Type 4a 66
Charcot Marie Tooth Disease Type 4a 50
Cmt 4a 24

Characteristics:

Orphanet epidemiological data:

56
charcot-marie-tooth disease type 4a
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
charcot-marie-tooth disease, type 4a:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course infantile onset rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 214400
Disease Ontology 12 DOID:0110185
ICD10 33 G60.0
Orphanet 56 ORPHA99948
MESH via Orphanet 43 C535419
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 70 C1859198
MedGen 40 C1859198
MeSH 42 D002607

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

OMIM : 54 By convention, the designation CMT4 is applied to autosomal recessive forms of demyelinating Charcot-Marie-Tooth... (214400) more...

MalaCards based summary : Charcot-Marie-Tooth Disease, Type 4a, also known as charcot-marie-tooth disease type 4a, is related to neuropathy, congenital hypomyelinating and charcot-marie-tooth disease, type 4c, and has symptoms including decreased motor nerve conduction velocity, areflexia and split hand. An important gene associated with Charcot-Marie-Tooth Disease, Type 4a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). The drugs protease inhibitors and HIV Protease Inhibitors have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and nervous system

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.

UniProtKB/Swiss-Prot : 66 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.

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

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease, Type 2a2
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Type 2b1 Charcot-Marie-Tooth Disease, Type 1b
Charcot-Marie-Tooth Disease, Type 2j Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease, Type 2b Charcot-Marie-Tooth Disease, Type 2r
Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Type 2d Charcot-Marie-Tooth Disease, Type 2e
Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Disease, Type 4a
Charcot-Marie-Tooth Disease, Recessive Intermediate, a Charcot-Marie-Tooth Disease, Type 4d
Charcot-Marie-Tooth Disease, Type 1d Charcot-Marie-Tooth Disease, Dominant Intermediate a
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 1c
Charcot-Marie-Tooth Disease, Recessive Intermediate, B Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Type 4f Charcot-Marie-Tooth Disease, Type 2b2
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 4k 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 Recessive Charcot Marie Tooth Disease Type 2x Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Charcot-Marie-Tooth Disease Type 2t
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Charcot-Marie-Tooth Disease 2a2b
Charcot-Marie-Tooth Disease 2z

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 neuropathy, congenital hypomyelinating 31.2 GDAP1 MTMR2 PRX
2 charcot-marie-tooth disease, type 4c 11.5
3 charcot-marie-tooth disease, type 4h 11.5
4 charcot-marie-tooth disease type 2g 11.3
5 charcot-marie-tooth disease, type 2a1 10.7
6 charcot-marie-tooth disease, type 2a2 10.7
7 charcot-marie-tooth disease, type 1b 10.7
8 charcot-marie-tooth disease, type 4j 10.7
9 charcot-marie-tooth disease, type 4d 10.7
10 neuropathy, hereditary motor and sensory, russe type 10.7
11 charcot-marie-tooth disease, type 4b2 10.7
12 charcot-marie-tooth disease, type 4f 10.7
13 charcot-marie-tooth disease 10.4
14 tooth disease 10.4
15 neuropathy 10.2
16 charcot-marie-tooth neuropathy 10.2
17 neuronitis 10.2
18 muscular dystrophy, congenital 10.2 GDAP1 JPH1
19 glaucoma 1, open angle, 1o 10.2 GDAP1 JPH1
20 deafness, autosomal recessive 76 10.1 GDAP1 PRX
21 infantile epileptic encephalopathy 10.1 GDAP1 MTMR2
22 potocki-lupski syndrome 10.1 GDAP1 MTMR2
23 conotruncal heart malformations 10.0 GDAP1 MTMR2
24 chkb-related muscle diseases 10.0 GDAP1 SBF2
25 multiple epiphyseal dysplasia with robin phenotype 10.0 GDAP1 JPH1
26 mitochondrial complex v deficiency, nuclear type 2 10.0 GDAP1 JPH1 TUBB3
27 hereditary xanthinuria 10.0 MTMR2 SBF2
28 uterine ligament serous adenocarcinoma 10.0 GDAP1 MTMR2 TUBB3
29 korsakoff's amnesic syndrome 10.0 MTMR2 PRX
30 senile angioma 10.0 GDAP1 MTMR2 PRX
31 short stature, idiopathic familial 9.9 GDAP1 MTMR2 SBF2
32 yunis-varon syndrome 9.9 GDAP1 MTMR2 SBF2
33 adams-oliver syndrome 2 9.8 MTMR2 SBF2
34 gnathodiaphyseal dysplasia 9.7 GDAP1 MTMR2 PRX SBF2
35 deafness, autosomal dominant 8/12 9.7 GDAP1 MTMR2 PRX SBF2
36 wernicke-korsakoff syndrome 9.7 GDAP1 MTMR2 PRX SBF2
37 charcot-marie-tooth disease, type 2j 9.6 GDAP1 JPH1 MTMR2 PRX SBF2
38 chromophobe renal cell carcinoma 9.6 GDAP1 JPH1 MTMR2 PRX SBF2
39 carotid body cancer 9.5 GDAP1 MTMR2 PRX SBF2 TDP1
40 charcot-marie-tooth disease, axonal, type 2k 8.9 GDAP1 JPH1 MTMR2 PMP2 PRX 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

Symptoms by clinical synopsis from OMIM:

214400

Clinical features from OMIM:

214400

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

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 decreased motor nerve conduction velocity 32 HP:0003431
2 areflexia 32 HP:0001284
3 split hand 32 HP:0001171
4 hyporeflexia 32 HP:0001265
5 motor delay 32 HP:0001270
6 kyphoscoliosis 32 HP:0002751
7 hammertoe 32 HP:0001765
8 distal muscle weakness 32 HP:0002460
9 cns hypomyelination 32 HP:0003429
10 distal sensory impairment 32 HP:0002936
11 distal amyotrophy 32 HP:0003693
12 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
13 hypertrophic nerve changes 32 HP:0003382
14 ulnar claw 32 HP:0001178
15 peripheral axonal degeneration 32 HP:0000764
16 basal lamina 'onion bulb' formation 32 HP:0003400
17 inability to walk by childhood/adolescence 32 HP:0006915
18 peripheral hypomyelination 32 HP:0007182

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 GDAP1 JPH1 MTMR2 PMP2 PRX SBF2
2 nervous system MP:0003631 9.17 SBF2 TDP1 TUBB3 GDAP1 MTMR2 PMP2

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):


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, 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:

id Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Type 4a 29
2 Charcot-Marie-Tooth Neuropathy Type 4a 24 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:

id Title Authors Year
1
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. ( 15805163 )
2005
2
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. ( 15772096 )
2005

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

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

66
id Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg120Gln VAR_017184
2 GDAP1 p.Arg161His VAR_017185 rs104894076

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

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.2(GDAP1): c.92G> A (p.Trp31Ter) single nucleotide variant Pathogenic rs121908112 GRCh37 Chromosome 8, 75262788: 75262788
2 GDAP1 NM_018972.2(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
3 GDAP1 NM_018972.2(GDAP1): c.482G> A (p.Arg161His) single nucleotide variant Pathogenic rs104894076 GRCh37 Chromosome 8, 75272543: 75272543
4 GDAP1 NM_018972.2(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh37 Chromosome 8, 75274121: 75274121
5 GDAP1 NM_018972.2(GDAP1): c.358C> T (p.Arg120Trp) single nucleotide variant Pathogenic rs104894078 GRCh37 Chromosome 8, 75272419: 75272419
6 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
7 GDAP1 NM_018972.2(GDAP1): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs281865060 GRCh37 Chromosome 8, 75272408: 75272408
8 GDAP1 NM_018972.2(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh38 Chromosome 8, 74360199: 74360199
9 GDAP1 NM_018972.2(GDAP1): c.579+1G> A single nucleotide variant Pathogenic rs864622501 GRCh37 Chromosome 8, 75274214: 75274214
10 GDAP1 NM_018972.2(GDAP1): c.579delA (p.Lys193Asnfs) deletion Pathogenic rs1060500979 GRCh38 Chromosome 8, 74361978: 74361978
11 GDAP1 NM_018972.2(GDAP1): c.786delG (p.Phe263Leufs) deletion Likely pathogenic rs1060500978 GRCh38 Chromosome 8, 74364076: 74364076
12 GDAP1 NM_018972.2(GDAP1): c.1019dupT (p.Arg341Glnfs) duplication Likely pathogenic GRCh38 Chromosome 8, 74364309: 74364309
13 GDAP1 NM_018972.2(GDAP1): c.311-1790_408del deletion Likely pathogenic GRCh38 Chromosome 8, 74358347: 74360234

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:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.5 GDAP1 MTMR2 PMP2 PRX SBF2 TDP1
2 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

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

id Name GO ID Score Top Affiliating Genes
1 protein tetramerization GO:0051262 8.62 MTMR2 SBF2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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