CMT2RV
MCID: CHR655
MIFTS: 22

Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive (CMT2RV)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive:

Name: Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 58 76 30 6 41
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 58 13
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 58
Charcot-Marie-Tooth Neuropathy Axonal with Vocal Cord Paresis Autosomal Recessive 76
Cmt2 with Vocal Cord Paresis, Autosomal Recessive 58
Charcot-Marie-Tooth Disease, Type 4a, Axonal Form 58
Cmt2 with Vocal Cord Paresis Autosomal Recessive 76
Charcot-Marie-Tooth Axonal Type 4a 76
Cmt2rv 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
upper limb involvement occurs later
severe course
onset in neonatal period or before age 2 years
disability by end of first decade
allelic disorder to cmt4a


HPO:

33
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive: A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive, also known as charcot-marie-tooth disease, axonal, with vocal cord paresis, is related to charcot-marie-tooth disease, axonal, type 2k and charcot-marie-tooth disease type 2g. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Related phenotypes are onion bulb formation and flexion contracture

Description from OMIM: 607706

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Diseases related to Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2k 11.9
2 charcot-marie-tooth disease type 2g 11.9

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 onion bulb formation 33 occasional (7.5%) HP:0003383
2 flexion contracture 33 HP:0001371
3 pes cavus 33 HP:0001761
4 decreased motor nerve conduction velocity 33 HP:0003431
5 areflexia 33 HP:0001284
6 split hand 33 HP:0001171
7 distal muscle weakness 33 HP:0002460
8 vocal cord paresis 33 HP:0001604
9 spinal deformities 33 HP:0008443
10 distal amyotrophy 33 HP:0003693
11 distal sensory impairment 33 HP:0002936
12 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
13 axonal degeneration/regeneration 33 HP:0003378

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Skeletal Spine:
spinal deformities

Skeletal:
contractures

Neurologic Peripheral Nervous System:
areflexia
vocal cord paresis
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
decreased number of myelinated fibers
more
Voice:
hoarse voice due to vocal cord paresis

Skeletal Hands:
claw hands

Clinical features from OMIM:

607706

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive 30 GDAP1

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Publications for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Articles related to Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive:

# Title Authors Year
1
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. ( 12707075 )
2003
2
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. ( 11743579 )
2002
3
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. ( 12499475 )
2002
4
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. ( 11743580 )
2002

Variations for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive:

76
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg310Gln VAR_017187 rs132315356

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
2 GDAP1 NM_018972.3(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh38 Chromosome 8, 74362940: 74362940
3 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh37 Chromosome 8, 75274121: 75274121
4 GDAP1 NM_018972.3(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh38 Chromosome 8, 74361886: 74361886
5 GDAP1 NM_018972.3(GDAP1): c.1006G> T (p.Ala336Ser) single nucleotide variant Uncertain significance rs140811185 GRCh38 Chromosome 8, 74364296: 74364296
6 GDAP1 NM_018972.3(GDAP1): c.1006G> T (p.Ala336Ser) single nucleotide variant Uncertain significance rs140811185 GRCh37 Chromosome 8, 75276531: 75276531

Expression for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive.

Pathways for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

GO Terms for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

Sources for Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis,...

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10 dbSNP
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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