CMT2RV
MCID: CHR655
MIFTS: 25

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

Categories: Genetic diseases, Neuronal diseases, Rare 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 56 52 73 29 6 39
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 56 13
Charcot-Marie-Tooth Disease, Type 4a, Axonal Form 56 52
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 56
Charcot-Marie-Tooth Neuropathy Axonal with Vocal Cord Paresis Autosomal Recessive 73
Cmt2 with Vocal Cord Paresis, Autosomal Recessive 56
Cmt2 with Vocal Cord Paresis Autosomal Recessive 73
Charcot-Marie-Tooth Disease, Axonal, Type 2g 52
Charcot-Marie-Tooth Disease Type 2g 52
Charcot Marie Tooth Disease Type 2g 52
Charcot-Marie-Tooth Axonal Type 4a 73
Cmt 2g 52
Cmt2rv 73

Characteristics:

OMIM:

56
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:

31
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:



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

UniProtKB/Swiss-Prot : 73 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 autosomal dominant charcot-marie-tooth disease type 2g and charcot-marie-tooth disease, axonal, type 2k. 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

More information from OMIM: 607706 PS118220

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 autosomal dominant charcot-marie-tooth disease type 2g 12.9
2 charcot-marie-tooth disease, axonal, type 2k 12.0
3 alzheimer disease 10.5
4 amyotrophic lateral sclerosis 1 10.5
5 charcot-marie-tooth disease, axonal, type 2p 10.5
6 charcot-marie-tooth disease 10.5
7 tooth disease 10.5
8 lateral sclerosis 10.5

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive:



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

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 onion bulb formation 31 occasional (7.5%) HP:0003383
2 flexion contracture 31 HP:0001371
3 areflexia 31 HP:0001284
4 pes cavus 31 HP:0001761
5 decreased motor nerve conduction velocity 31 HP:0003431
6 split hand 31 HP:0001171
7 distal amyotrophy 31 HP:0003693
8 distal muscle weakness 31 HP:0002460
9 vocal cord paresis 31 HP:0001604
10 spinal deformities 31 HP:0008443
11 distal sensory impairment 31 HP:0002936
12 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
13 axonal degeneration/regeneration 31 HP:0003378

Symptoms via clinical synopsis from OMIM:

56
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
Skeletal Spine:
spinal deformities

Skeletal:
contractures

Skeletal Feet:
pes cavus

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 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,...

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

# Title Authors PMID Year
1
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. 56 6
11743580 2002
2
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. 56
12821518 2003
3
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. 6
12707075 2003
4
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 6
12499475 2002
5
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 6
11743579 2002
6
The many faces of Charcot-Marie-Tooth disease. 56
10815126 2000
7
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
8
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. 61
27686364 2016

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

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GDAP1 NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)SNV Pathogenic 4191 rs104894075 8:75275175-75275175 8:74362940-74362940
2 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)SNV Pathogenic 4193 rs104894077 8:75274121-75274121 8:74361886-74361886
3 GDAP1 NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)SNV Uncertain significance 467754 rs140811185 8:75276531-75276531 8:74364296-74364296

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

73
# Symbol AA change Variation ID SNP ID
1 GDAP1 p.Arg310Gln VAR_017187 rs132315356

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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