CMTRIA
MCID: CHR658
MIFTS: 24

Charcot-Marie-Tooth Disease, Recessive Intermediate a (CMTRIA)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 58 30 6 41 74
Cmtria 58 12 54 76
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a 12 54 60
Charcot-Marie-Tooth Disease, Recessive Intermediate, a 58 54 13
Ri-Cmta 58 12 76
Charcot-Marie-Tooth Neuropathy Recessive Intermediate a 12 76
Ri-Cmt Type a 54 60
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, a 76
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate a 58
Charcot-Marie-Tooth Disease Recessive Intermediate a 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive intermediate charcot-marie-tooth disease type a
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
charcot-marie-tooth disease, recessive intermediate a:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110201
OMIM 58 608340
MeSH 45 D002607
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1842197
Orphanet 60 ORPHA217055
MedGen 43 C1842197
UMLS 74 C1842197

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

UniProtKB/Swiss-Prot : 76 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 : 58 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 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, 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 11.1

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

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

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 peripheral neuropathy 33 HP:0009830
3 pes cavus 33 HP:0001761
4 talipes equinovarus 33 HP:0001762
5 areflexia 33 HP:0001284
6 hyporeflexia 33 HP:0001265
7 foot dorsiflexor weakness 33 HP:0009027
8 limb muscle weakness 33 HP:0003690
9 peripheral demyelination 33 HP:0011096
10 steppage gait 33 HP:0003376
11 distal amyotrophy 33 HP:0003693
12 distal sensory impairment 33 HP:0002936
13 emg: neuropathic changes 33 HP:0003445
14 onion bulb formation 33 HP:0003383
15 decreased number of large peripheral myelinated nerve fibers 33 HP:0003387
16 ulnar claw 33 HP:0001178

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GDAP1

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

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

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

# Title Authors Year
1
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. ( 21365284 )
2011
2
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. ( 20232219 )
2010
3
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. ( 17039978 )
2006
4
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. ( 12566285 )
2003
5
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. ( 12499475 )
2002

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

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

76
# 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 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh37 Chromosome 8, 75274121: 75274121
2 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh38 Chromosome 8, 74361886: 74361886
3 GDAP1 NM_018972.3(GDAP1): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs28937906 GRCh37 Chromosome 8, 75276369: 75276369
4 GDAP1 NM_018972.3(GDAP1): c.844C> T (p.Arg282Cys) single nucleotide variant Pathogenic rs28937906 GRCh38 Chromosome 8, 74364134: 74364134
5 GDAP1 GDAP1, 1-BP INS, 349T insertion Pathogenic
6 GDAP1 GDAP1, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
7 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh37 Chromosome 8, 75276240: 75276240
8 GDAP1 NM_018972.3(GDAP1): c.715C> T (p.Leu239Phe) single nucleotide variant Pathogenic rs104894080 GRCh38 Chromosome 8, 74364005: 74364005
9 GDAP1 NM_018972.3(GDAP1): c.980G> A (p.Gly327Asp) single nucleotide variant Pathogenic rs397515432 GRCh37 Chromosome 8, 75276505: 75276505
10 GDAP1 NM_018972.3(GDAP1): c.980G> A (p.Gly327Asp) single nucleotide variant Pathogenic rs397515432 GRCh38 Chromosome 8, 74364270: 74364270
11 GDAP1 NM_018972.3(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh38 Chromosome 8, 74360199: 74360199
12 GDAP1 NM_018972.3(GDAP1): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic rs745663149 GRCh37 Chromosome 8, 75272434: 75272434
13 GDAP1 NM_018972.3(GDAP1): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs770501034 GRCh38 Chromosome 8, 74364059: 74364059
14 GDAP1 NM_018972.3(GDAP1): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs770501034 GRCh37 Chromosome 8, 75276294: 75276294
15 GDAP1 NM_018972.3(GDAP1): c.1006G> T (p.Ala336Ser) single nucleotide variant Uncertain significance rs140811185 GRCh38 Chromosome 8, 74364296: 74364296
16 GDAP1 NM_018972.3(GDAP1): c.1006G> T (p.Ala336Ser) single nucleotide variant Uncertain significance rs140811185 GRCh37 Chromosome 8, 75276531: 75276531
17 GDAP1 NM_018972.2: c.695_1077del deletion Pathogenic rs1554548327 GRCh38 Chromosome 8, 74363985: 74364367
18 GDAP1 NM_018972.2: c.695_1077del deletion Pathogenic rs1554548327 GRCh37 Chromosome 8, 75276220: 75276602

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

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