CMT2RV
MCID: CHR655
MIFTS: 20

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 57 75 29 6 40
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 57 13
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 57
Charcot-Marie-Tooth Neuropathy Axonal with Vocal Cord Paresis Autosomal Recessive 75
Cmt2 with Vocal Cord Paresis, Autosomal Recessive 57
Charcot-Marie-Tooth Disease, Type 4a, Axonal Form 57
Cmt2 with Vocal Cord Paresis Autosomal Recessive 75
Charcot-Marie-Tooth Axonal Type 4a 75
Cmt2rv 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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 flexion contracture and pes cavus

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 11.8
2 charcot-marie-tooth disease type 2g 11.8

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 32 HP:0001371
2 pes cavus 32 HP:0001761
3 decreased motor nerve conduction velocity 32 HP:0003431
4 areflexia 32 HP:0001284
5 split hand 32 HP:0001171
6 distal muscle weakness 32 HP:0002460
7 vocal cord paresis 32 HP:0001604
8 spinal deformities 32 HP:0008443
9 distal amyotrophy 32 HP:0003693
10 distal sensory impairment 32 HP:0002936
11 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
12 onion bulb formation 32 occasional (7.5%) HP:0003383
13 axonal degeneration/regeneration 32 HP:0003378

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 29 GDAP1

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

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

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:

75
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg310Gln VAR_017187

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_018972.2(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh37 Chromosome 8, 75275175: 75275175
2 GDAP1 NM_018972.2(GDAP1): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs104894075 GRCh38 Chromosome 8, 74362940: 74362940
3 GDAP1 NM_018972.2(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh37 Chromosome 8, 75274121: 75274121
4 GDAP1 NM_018972.2(GDAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs104894077 GRCh38 Chromosome 8, 74361886: 74361886

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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 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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