CMT2RV
MCID: CHR655
MIFTS: 32

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 57 20 73 29 6 39
Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis 57 13
Charcot-Marie-Tooth Disease, Type 4a, Axonal Form 57 20
Charcot-Marie-Tooth Disease, Axonal, Type 2g 20 6
Charcot-Marie-Tooth Neuropathy, Axonal, with Vocal Cord Paresis, Autosomal Recessive 57
Charcot-Marie-Tooth Neuropathy Axonal with Vocal Cord Paresis Autosomal Recessive 73
Cmt2 with Vocal Cord Paresis, Autosomal Recessive 57
Cmt2 with Vocal Cord Paresis Autosomal Recessive 73
Charcot-Marie-Tooth Disease Type 2g 20
Charcot Marie Tooth Disease Type 2g 20
Charcot-Marie-Tooth Axonal Type 4a 73
Cmt 2g 20
Cmt2rv 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 charcot-marie-tooth disease and tooth disease. 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:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 30.2 LRSAM1 GDAP1
2 tooth disease 30.2 LRSAM1 GDAP1
3 charcot-marie-tooth disease, axonal, type 2p 30.1 LRSAM1 GDAP1
4 charcot-marie-tooth disease, axonal, type 2k 11.8
5 autosomal dominant charcot-marie-tooth disease type 2g 11.5
6 alzheimer disease 10.3
7 amyotrophic lateral sclerosis 1 10.3
8 lateral sclerosis 10.3
9 charcot-marie-tooth disease, axonal, type 2h 9.8 LRSAM1 GDAP1
10 charcot-marie-tooth disease, axonal, type 2a1 9.8 LRSAM1 GDAP1
11 charcot-marie-tooth disease, axonal, type 2r 9.8 LRSAM1 GDAP1
12 charcot-marie-tooth disease intermediate type 9.8 LRSAM1 GDAP1
13 spastic paraplegia 55, autosomal recessive 9.8 LRSAM1 GDAP1
14 charcot-marie-tooth disease, axonal, type 2b1 9.8 LRSAM1 GDAP1
15 charcot-marie-tooth disease, axonal, type 2t 9.8 LRSAM1 GDAP1
16 charcot-marie-tooth disease, axonal, type 2b2 9.7 LRSAM1 GDAP1
17 charcot-marie-tooth disease, demyelinating, type 1c 9.7 LRSAM1 GDAP1
18 neuropathy, hereditary, with liability to pressure palsies 9.7 LRSAM1 GDAP1
19 polyneuropathy 9.7 LRSAM1 GDAP1
20 charcot-marie-tooth disease and deafness 9.7 LRSAM1 GDAP1
21 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.6 LRSAM1 GDAP1
22 neuromuscular disease 9.6 LRSAM1 GDAP1
23 charcot-marie-tooth disease, axonal, type 2e 9.5 LRSAM1 GDAP1

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 vocal cord paresis 31 HP:0001604
8 distal amyotrophy 31 HP:0003693
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

(show all 12)
# 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 57
11743580 2002
2
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. 61 6
27686364 2016
3
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. 6
22781092 2013
4
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. 6
22012984 2012
5
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 6
20865121 2010
6
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. 6
14985381 2004
7
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. 57
12821518 2003
8
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
9
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. 6
12499475 2002
10
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 6
11743579 2002
11
The many faces of Charcot-Marie-Tooth disease. 57
10815126 2000
12
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. 6
3022865 1986

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 380)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRSAM1 NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) SNV Pathogenic 30859 rs387907032 9:130263290-130263290 9:127501011-127501011
2 LRSAM1 NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) SNV Pathogenic 241836 rs138226428 9:130249974-130249974 9:127487695-127487695
3 LRSAM1 NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) SNV Pathogenic 268046 rs886041051 9:130265087-130265087 9:127502808-127502808
4 LRSAM1 NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) SNV Pathogenic 408267 rs759312530 9:130265086-130265086 9:127502807-127502807
5 LRSAM1 NM_138361.5(LRSAM1):c.2093_2104del Deletion Pathogenic 472799 rs1554763017 9:130265089-130265100 9:127502810-127502821
6 LRSAM1 NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) Deletion Pathogenic 577820 rs749012928 9:130257693-130257693 9:127495414-127495414
7 LRSAM1 NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs) Duplication Pathogenic 639489 rs775965001 9:130263327-130263328 9:127501048-127501049
8 LRSAM1 NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) Duplication Pathogenic 585203 rs1564287871 9:130265104-130265105 9:127502825-127502826
9 LRSAM1 NC_000009.12:g.(?_127501000)_(127501153_?)del Deletion Pathogenic 644828 9:130263279-130263432 9:127501000-127501153
10 LRSAM1 NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del Microsatellite Pathogenic 645695 rs1588132672 9:130253562-130253563 9:127491283-127491284
11 LRSAM1 NM_138361.5(LRSAM1):c.1333del (p.Gln445fs) Deletion Pathogenic 946022 9:130250027-130250027 9:127487748-127487748
12 LRSAM1 NM_138361.5(LRSAM1):c.109del (p.Ser37fs) Deletion Pathogenic 969216 9:130217313-130217313 9:127455034-127455034
13 GDAP1 NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) SNV Pathogenic 4191 rs104894075 8:75275175-75275175 8:74362940-74362940
14 LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) Duplication Pathogenic 30860 rs786200930 9:130265125-130265126 9:127502846-127502847
15 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 8:75274121-75274121 8:74361886-74361886
16 GDAP1 NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) SNV Pathogenic 242508 rs281865060 8:75272408-75272408 8:74360173-74360173
17 GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 8:75274121-75274121 8:74361886-74361886
18 LRSAM1 NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) SNV Pathogenic 540003 rs1345228128 9:130236096-130236096 9:127473817-127473817
19 LRSAM1 NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) Duplication Pathogenic 651567 rs1315010600 9:130263394-130263395 9:127501115-127501116
20 LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>A SNV Pathogenic 204301 rs756880678 9:130263288-130263288 9:127501009-127501009
21 LRSAM1 NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) Deletion Pathogenic 859441 9:130258359-130258359 9:127496080-127496080
22 LRSAM1 NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) SNV Likely pathogenic 695013 rs1588143112 9:130263381-130263381 9:127501102-127501102
23 LRSAM1 NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) Deletion Likely pathogenic 540008 rs1554763035 9:130265108-130265108 9:127502829-127502829
24 LRSAM1 NM_138361.5(LRSAM1):c.1043+1G>A SNV Likely pathogenic 953272 9:130242258-130242258 9:127479979-127479979
25 LRSAM1 NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) Deletion Likely pathogenic 234769 rs876661208 9:130263377-130263389 9:127501098-127501110
26 LRSAM1 NM_138361.5(LRSAM1):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 931649 9:130245242-130245242 9:127482963-127482963
27 LRSAM1 NC_000009.11:g.(130264298_130265053)_(130265271_?)del Deletion Likely pathogenic 598943 9:130264298-130265271 9:127502019-127502992
28 LRSAM1 NM_138361.5(LRSAM1):c.847_1088+563del Deletion Likely pathogenic 650288 9:130241728-130244069 9:127479449-127481790
29 LRSAM1 NC_000009.12:g.(?_127502764)_(127502909_?)del Deletion Likely pathogenic 831957 9:130265043-130265188
30 LRSAM1 NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs) Duplication Likely pathogenic 841754 9:130263352-130263353 9:127501073-127501074
31 LRSAM1 NM_138361.5(LRSAM1):c.1043+2T>G SNV Likely pathogenic 577857 rs746455518 9:130242259-130242259 9:127479980-127479980
32 LRSAM1 NM_138361.5(LRSAM1):c.1348-1G>A SNV Likely pathogenic 472790 rs747659617 9:130251722-130251722 9:127489443-127489443
33 LRSAM1 NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) SNV Likely pathogenic 242907 rs879253755 9:130265074-130265074 9:127502795-127502795
34 LRSAM1 NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) SNV Conflicting interpretations of pathogenicity 241838 rs201284198 9:130263306-130263306 9:127501027-127501027
35 LRSAM1 NM_138361.5(LRSAM1):c.1504-5C>G SNV Conflicting interpretations of pathogenicity 365029 rs377190920 9:130255076-130255076 9:127492797-127492797
36 LRSAM1 NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) SNV Conflicting interpretations of pathogenicity 414879 rs771491533 9:130241775-130241775 9:127479496-127479496
37 LRSAM1 NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) SNV Conflicting interpretations of pathogenicity 578496 rs373570877 9:130245293-130245293 9:127483014-127483014
38 LRSAM1 NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) SNV Conflicting interpretations of pathogenicity 365012 rs368689811 9:130224582-130224582 9:127462303-127462303
39 LRSAM1 NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) SNV Conflicting interpretations of pathogenicity 701162 rs140066362 9:130255092-130255092 9:127492813-127492813
40 LRSAM1 NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) SNV Conflicting interpretations of pathogenicity 365031 rs139344911 9:130258316-130258316 9:127496037-127496037
41 LRSAM1 NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) SNV Conflicting interpretations of pathogenicity 408269 rs150784835 9:130217298-130217298 9:127455019-127455019
42 LRSAM1 NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) SNV Conflicting interpretations of pathogenicity 208726 rs797044913 9:130265126-130265126 9:127502847-127502847
43 LRSAM1 NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr) SNV Conflicting interpretations of pathogenicity 841226 9:130251726-130251726 9:127489447-127489447
44 LRSAM1 NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys) SNV Uncertain significance 845926 9:130258258-130258258 9:127495979-127495979
45 LRSAM1 NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) SNV Uncertain significance 639095 rs1588144651 9:130265093-130265093 9:127502814-127502814
46 LRSAM1 NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) SNV Uncertain significance 571041 rs746831085 9:130259538-130259538 9:127497259-127497259
47 GDAP1 NM_018972.4(GDAP1):c.693A>T (p.Pro231=) SNV Uncertain significance 379724 rs181157785 8:75275287-75275287 8:74363052-74363052
48 GDAP1 NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) SNV Uncertain significance 467776 rs199529910 8:75276490-75276490 8:74364255-74364255
49 LRSAM1 NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) SNV Uncertain significance 288562 rs537838691 9:130258325-130258325 9:127496046-127496046
50 LRSAM1 NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) SNV Uncertain significance 472793 rs1400819662 9:130257618-130257618 9:127495339-127495339

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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45 MESH via Orphanet
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72 UMLS via Orphanet
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