CMT2RV
MCID: CHR655
MIFTS: 28

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 split hand 31 HP:0001171
5 pes cavus 31 HP:0001761
6 decreased motor nerve conduction velocity 31 HP:0003431
7 distal amyotrophy 31 HP:0003693
8 vocal cord paresis 31 HP:0001604
9 distal muscle weakness 31 HP:0002460
10 distal sensory impairment 31 HP:0002936
11 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
12 spinal deformities 31 HP:0008443
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. 6 56
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 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.485-6T>CSNV Conflicting interpretations of pathogenicity 363720 rs763802909 8:75274113-75274113 8:74361878-74361878
4 GDAP1 NM_018972.4(GDAP1):c.*1639A>GSNV Conflicting interpretations of pathogenicity 363748 rs145245478 8:75278241-75278241 8:74366006-74366006
5 GDAP1 NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)SNV Conflicting interpretations of pathogenicity 467776 rs199529910 8:75276490-75276490 8:74364255-74364255
6 GDAP1 NM_018972.4(GDAP1):c.693A>T (p.Pro231=)SNV Conflicting interpretations of pathogenicity 379724 rs181157785 8:75275287-75275287 8:74363052-74363052
7 GDAP1 NM_018972.4(GDAP1):c.*858G>TSNV Uncertain significance 363729 rs761964880 8:75277460-75277460 8:74365225-74365225
8 GDAP1 NM_018972.4(GDAP1):c.*1377C>TSNV Uncertain significance 363740 rs886063112 8:75277979-75277979 8:74365744-74365744
9 GDAP1 NM_018972.4(GDAP1):c.*1416G>ASNV Uncertain significance 363741 rs575631045 8:75278018-75278018 8:74365783-74365783
10 GDAP1 NM_018972.4(GDAP1):c.*1437A>CSNV Uncertain significance 363744 rs557040712 8:75278039-75278039 8:74365804-74365804
11 GDAP1 NM_018972.4(GDAP1):c.*1527G>ASNV Uncertain significance 363746 rs886063113 8:75278129-75278129 8:74365894-74365894
12 GDAP1 NM_018972.4(GDAP1):c.*1779G>TSNV Uncertain significance 363751 rs886063115 8:75278381-75278381 8:74366146-74366146
13 GDAP1 NM_018972.4(GDAP1):c.*1923C>TSNV Uncertain significance 363754 rs886063116 8:75278525-75278525 8:74366290-74366290
14 GDAP1 NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)SNV Uncertain significance 467772 rs778557691 8:75276301-75276301 8:74364066-74364066
15 GDAP1 NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser)SNV Uncertain significance 467754 rs140811185 8:75276531-75276531 8:74364296-74364296
16 GDAP1 NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)SNV Uncertain significance 848093 8:75276397-75276397 8:74364162-74364162
17 GDAP1 NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)SNV Uncertain significance 845803 8:75276564-75276564 8:74364329-74364329
18 GDAP1 NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)SNV Uncertain significance 911944 8:75263687-75263687 8:74351452-74351452
19 GDAP1 NM_018972.4(GDAP1):c.471T>G (p.Thr157=)SNV Uncertain significance 909017 8:75272532-75272532 8:74360297-74360297
20 GDAP1 NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)SNV Uncertain significance 909881 8:75276244-75276244 8:74364009-74364009
21 GDAP1 NM_018972.4(GDAP1):c.*18C>TSNV Uncertain significance 910779 8:75276620-75276620 8:74364385-74364385
22 GDAP1 NM_018972.4(GDAP1):c.*195T>CSNV Uncertain significance 911998 8:75276797-75276797 8:74364562-74364562
23 GDAP1 NM_018972.4(GDAP1):c.*331C>TSNV Uncertain significance 911999 8:75276933-75276933 8:74364698-74364698
24 GDAP1 NM_018972.4(GDAP1):c.*451C>TSNV Uncertain significance 909077 8:75277053-75277053 8:74364818-74364818
25 GDAP1 NM_018972.4(GDAP1):c.*644G>TSNV Uncertain significance 909078 8:75277246-75277246 8:74365011-74365011
26 GDAP1 NM_018972.4(GDAP1):c.*697A>GSNV Uncertain significance 909932 8:75277299-75277299 8:74365064-74365064
27 GDAP1 NM_018972.4(GDAP1):c.*860T>CSNV Uncertain significance 912056 8:75277462-75277462 8:74365227-74365227
28 GDAP1 NM_018972.4(GDAP1):c.*926C>ASNV Uncertain significance 909153 8:75277528-75277528 8:74365293-74365293
29 GDAP1 NM_018972.4(GDAP1):c.*1043G>CSNV Uncertain significance 909994 8:75277645-75277645 8:74365410-74365410
30 GDAP1 NM_018972.4(GDAP1):c.*1080G>ASNV Uncertain significance 909995 8:75277682-75277682 8:74365447-74365447
31 GDAP1 NM_018972.4(GDAP1):c.*1141C>TSNV Uncertain significance 910882 8:75277743-75277743 8:74365508-74365508
32 GDAP1 NM_018972.4(GDAP1):c.*1165C>GSNV Uncertain significance 910883 8:75277767-75277767 8:74365532-74365532
33 GDAP1 NM_018972.4(GDAP1):c.*1183G>ASNV Uncertain significance 912108 8:75277785-75277785 8:74365550-74365550
34 GDAP1 NM_018972.4(GDAP1):c.*1289T>CSNV Uncertain significance 912109 8:75277891-75277891 8:74365656-74365656
35 GDAP1 NM_018972.4(GDAP1):c.*1301A>GSNV Uncertain significance 908103 8:75277903-75277903 8:74365668-74365668
36 GDAP1 NM_018972.4(GDAP1):c.*1372A>GSNV Uncertain significance 908104 8:75277974-75277974 8:74365739-74365739
37 GDAP1 NM_018972.4(GDAP1):c.*1415C>TSNV Uncertain significance 908105 8:75278017-75278017 8:74365782-74365782
38 GDAP1 NM_018972.4(GDAP1):c.*1905A>GSNV Uncertain significance 908166 8:75278507-75278507 8:74366272-74366272
39 GDAP1 NM_018972.4(GDAP1):c.*1968C>TSNV Uncertain significance 908167 8:75278570-75278570 8:74366335-74366335
40 GDAP1 NM_018972.4(GDAP1):c.*2125A>CSNV Uncertain significance 910123 8:75278727-75278727 8:74366492-74366492
41 GDAP1 NM_018972.4(GDAP1):c.*2298A>CSNV Uncertain significance 911012 8:75278900-75278900 8:74366665-74366665
42 GDAP1 NM_001362931.2(GDAP1):c.694+3856A>GSNV Uncertain significance 912243 8:75279144-75279144 8:74366909-74366909
43 GDAP1 NM_001362931.2(GDAP1):c.694+3989C>TSNV Uncertain significance 908238 8:75279277-75279277 8:74367042-74367042
44 GDAP1 NM_001362931.2(GDAP1):c.694+4016T>CSNV Uncertain significance 908239 8:75279304-75279304 8:74367069-74367069
45 GDAP1 NM_018972.4(GDAP1):c.*931A>GSNV Uncertain significance 363733 rs532787830 8:75277533-75277533 8:74365298-74365298
46 GDAP1 NM_018972.4(GDAP1):c.*1030T>CSNV Uncertain significance 363736 rs576789317 8:75277632-75277632 8:74365397-74365397
47 GDAP1 NM_018972.4(GDAP1):c.*1430T>ASNV Uncertain significance 363743 rs538689570 8:75278032-75278032 8:74365797-74365797
48 GDAP1 NM_018972.4(GDAP1):c.*2298A>GSNV Uncertain significance 363759 rs4551344 8:75278900-75278900 8:74366665-74366665
49 GDAP1 NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)SNV Uncertain significance 363719 rs771810975 8:75272435-75272435 8:74360200-74360200
50 GDAP1 NM_018972.4(GDAP1):c.*2170A>GSNV Uncertain significance 363756 rs886063117 8:75278772-75278772 8:74366537-74366537

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,...

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