MCID: CHR658
MIFTS: 23

Charcot-Marie-Tooth Disease, Recessive Intermediate a

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Recessive Intermediate a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Recessive Intermediate a:

Name: Charcot-Marie-Tooth Disease, Recessive Intermediate a 57 29 6 40 73
Cmtria 57 12 53 75
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a 12 53 59
Charcot-Marie-Tooth Disease, Recessive Intermediate, a 57 53 13
Ri-Cmta 57 12 75
Charcot-Marie-Tooth Neuropathy Recessive Intermediate a 12 75
Ri-Cmt Type a 53 59
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, a 75
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate a 57
Charcot-Marie-Tooth Disease Recessive Intermediate a 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive intermediate charcot-marie-tooth disease type a
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
severe course
onset in early childhood (2-4 years)
clinical and pathologic features of both demyelinating and axonal cmt
allelic to several forms of autosomal recessive cmt (see )


HPO:

32
charcot-marie-tooth disease, recessive intermediate a:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608340
Disease Ontology 12 DOID:0110201
Orphanet 59 ORPHA217055
UMLS via Orphanet 74 C1842197
ICD10 via Orphanet 34 G60.0
MedGen 42 C1842197
MeSH 44 D002607
UMLS 73 C1842197

Summaries for Charcot-Marie-Tooth Disease, Recessive Intermediate a

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease, recessive, intermediate type, A: A 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. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Recessive Intermediate a, also known as cmtria, is related to charcot-marie-tooth disease, recessive intermediate c. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Related phenotypes are scoliosis and peripheral neuropathy

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous mutation in the GDAP1 gene on chromosome 8q21.

OMIM : 57 Autosomal recessive intermediate Charcot-Marie-Tooth disease A (CMTRIA) is a peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. Onset is usually in early childhood (summary by Senderek et al., 2003). (608340)

Related Diseases for Charcot-Marie-Tooth Disease, Recessive Intermediate a

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 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
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 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, Recessive Intermediate a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, recessive intermediate c 10.9

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
'steppage' gait
foot drop
more
Neurologic:
normal early motor milestones

Skeletal Feet:
pes cavus
talipes equinovarus

Skeletal Hands:
claw hand deformity


Clinical features from OMIM:

608340

Human phenotypes related to Charcot-Marie-Tooth Disease, Recessive Intermediate a:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 peripheral neuropathy 32 HP:0009830
3 pes cavus 32 HP:0001761
4 talipes equinovarus 32 HP:0001762
5 areflexia 32 HP:0001284
6 hyporeflexia 32 HP:0001265
7 foot dorsiflexor weakness 32 HP:0009027
8 peripheral demyelination 32 HP:0011096
9 steppage gait 32 HP:0003376
10 limb muscle weakness 32 HP:0003690
11 distal amyotrophy 32 HP:0003693
12 distal sensory impairment 32 HP:0002936
13 onion bulb formation 32 HP:0003383
14 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387
15 ulnar claw 32 HP:0001178
16 emg 32 HP:0003445

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Genetic Tests for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Genetic tests related to Charcot-Marie-Tooth Disease, Recessive Intermediate a:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Recessive Intermediate a 29 GDAP1

Anatomical Context for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Publications for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Variations for Charcot-Marie-Tooth Disease, Recessive Intermediate a

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

75
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg282Cys VAR_017186 rs28937906

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Recessive Intermediate a:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.2(GDAP1): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs28937906 GRCh37 Chromosome 8, 75276369: 75276369
2 GDAP1 NM_018972.2(GDAP1): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs28937906 GRCh38 Chromosome 8, 74364134: 74364134
3 GDAP1 GDAP1, 1-BP INS, 349T insertion Pathogenic
4 GDAP1 GDAP1, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
5 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
6 GDAP1 NM_018972.2(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
7 GDAP1 NM_018972.2(GDAP1): c.980G> A (p.Gly327Asp) single nucleotide variant Pathogenic rs397515432 GRCh37 Chromosome 8, 75276505: 75276505
8 GDAP1 NM_018972.2(GDAP1): c.980G> A (p.Gly327Asp) single nucleotide variant Pathogenic rs397515432 GRCh38 Chromosome 8, 74364270: 74364270
9 GDAP1 NM_018972.2(GDAP1): c.62delA (p.Asp21Alafs) deletion no interpretation for the single variant rs863224875 GRCh38 Chromosome 8, 74350523: 74350523
10 GDAP1 NM_018972.2(GDAP1): c.62delA (p.Asp21Alafs) deletion no interpretation for the single variant rs863224875 GRCh37 Chromosome 8, 75262758: 75262758
11 GDAP1 NM_018972.2(GDAP1): c.347T> C (p.Met116Thr) single nucleotide variant no interpretation for the single variant rs281865060 GRCh37 Chromosome 8, 75272408: 75272408
12 GDAP1 NM_018972.2(GDAP1): c.347T> C (p.Met116Thr) single nucleotide variant no interpretation for the single variant rs281865060 GRCh38 Chromosome 8, 74360173: 74360173

Expression for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Recessive Intermediate a.

Pathways for Charcot-Marie-Tooth Disease, Recessive Intermediate a

GO Terms for Charcot-Marie-Tooth Disease, Recessive Intermediate a

Sources for Charcot-Marie-Tooth Disease, Recessive Intermediate a

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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