CMT2V
MCID: CHR548
MIFTS: 35

Charcot-Marie-Tooth Disease, Axonal, Type 2v (CMT2V)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2v

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2v:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2v 56 73 39
Cmt2v 56 12 58 73
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v 56 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v 12 58
Charcot-Marie-Tooth Disease, Axonal Type 2v 29 6
Charcot-Marie-Tooth Disease Axonal Type 2v 12 15
Charcot-Marie-Tooth Neuropathy, Type 2v 56 73
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Naglu Mutation 58
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v 12
Hereditary Adult-Onset Painful Axonal Polyneuropathy 58
Charcot-Marie-Tooth Neuropathy Type 2v 12
Charcot-Marie-Tooth Disease 2v 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2v
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Elderly;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
mean age at onset 41 years (range 18 to 61)
one family of french-canadian origin has been reported (last curated july 2015)


HPO:

31
charcot-marie-tooth disease, axonal, type 2v:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110178
OMIM 56 616491
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA447964

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2v

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease 2V: An axonal form of Charcot-Marie-Tooth disease, 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2v, also known as cmt2v, is related to progressive myoclonus epilepsy 4 and mucopolysaccharidosis iv. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2v is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Related phenotypes are sensory ataxia and paresthesia

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the NAGLU gene on chromosome 17q21.

More information from OMIM: 616491 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2v via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 progressive myoclonus epilepsy 4 10.0 NAGLU IGF2R
2 mucopolysaccharidosis iv 10.0 NAGLU IGF2R
3 hurler syndrome 10.0 NAGLU IGF2R
4 mucopolysaccharidosis, type iva 10.0 NAGLU IGF2R
5 mucopolysaccharidosis, type vi 10.0 NAGLU IGF2R
6 mucopolysaccharidosis, type vii 10.0 NAGLU IGF2R
7 mucopolysaccharidosis, type iiib 10.0 NAGLU IGF2R
8 mucopolysaccharidosis, type ii 10.0 NAGLU IGF2R
9 mucopolysaccharidosis, type ix 10.0 NAGLU GM2A
10 gm2-gangliosidosis, ab variant 9.9 NEU4 GM2A
11 mucopolysaccharidosis, type iiia 9.9 NAGLU IGF2R
12 mucolipidosis 9.9 NEU4 IGF2R
13 mucopolysaccharidosis iii 9.9 NAGLU IGF2R
14 scheie syndrome 9.8 NAGLU IGF2R
15 mucolipidosis ii alpha/beta 9.8 IGF2R GM2A
16 sandhoff disease 9.8 IGF2R GM2A
17 villous adenocarcinoma 9.7 ARSK ARSF
18 gm2 gangliosidosis 9.7 IGF2R GM2A
19 achondrogenesis, type ib 9.7 ARSK ARSF
20 fanconi syndrome 9.7 NAGLU IGF2R
21 mucopolysaccharidosis-plus syndrome 9.7 NAGLU IGF2R ARSK
22 gallbladder papillomatosis 9.7 GM2A ARSF
23 sphingolipidosis 9.6 IGF2R GM2A
24 lysosomal storage disease 9.6 NAGLU IGF2R GM2A
25 tay-sachs disease 9.6 NEU4 IGF2R GM2A
26 metachromatic leukodystrophy 9.4 IGF2R GM2A

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2v:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2v

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2v:

31
# Description HPO Frequency HPO Source Accession
1 sensory ataxia 31 occasional (7.5%) HP:0010871
2 paresthesia 31 HP:0003401
3 hyporeflexia 31 HP:0001265
4 distal sensory impairment 31 HP:0002936

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia
distal sensory impairment
pain in the lower extremities
paresthesia in the upper extremities may occur later
more
Neurologic Central Nervous System:
sleep disturbances due to leg pain
sensory ataxia (in some patients)

Clinical features from OMIM:

616491

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2v:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal Type 2v 29 NAGLU

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2v:

# Title Authors PMID Year
1
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 6 56
25818867 2015
2
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2v

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2v:

6 (show top 50) (show all 82) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NAGLU NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)SNV Pathogenic 551331 rs904672363 17:40695235-40695235 17:42543217-42543217
2 NAGLU NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)SNV Pathogenic 572445 rs1230894568 17:40695997-40695997 17:42543979-42543979
3 NAGLU NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)SNV Pathogenic 841655 17:40693129-40693129 17:42541111-42541111
4 NAGLU NM_000263.4(NAGLU):c.1159_1162AGCC[3] (p.Val390fs)short repeat Pathogenic 850180 17:40695182-40695183 17:42543164-42543165
5 NAGLU NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)deletion Pathogenic 862122 17:40695312-40695313 17:42543294-42543295
6 NAGLU NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)SNV Pathogenic 1561 rs104894591 17:40695900-40695900 17:42543882-42543882
7 NAGLU NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)deletion Pathogenic 1564 rs483352897 17:40689535-40689544 17:42537517-42537526
8 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)SNV Pathogenic 1566 rs104894595 17:40695586-40695586 17:42543568-42543568
9 NAGLU NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)SNV Pathogenic 30795 rs104894598 17:40695718-40695718 17:42543700-42543700
10 NAGLU NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)SNV Pathogenic 204585 rs796052122 17:40695232-40695232 17:42543214-42543214
11 NAGLU NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)SNV Pathogenic 288040 rs886043792 17:40690703-40690703 17:42538685-42538685
12 NAGLU NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)SNV Pathogenic/Likely pathogenic 143188 rs527236037 17:40695973-40695973 17:42543955-42543955
13 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)SNV Pathogenic/Likely pathogenic 1562 rs104894592 17:40693092-40693092 17:42541074-42541074
14 NAGLU NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)SNV Pathogenic/Likely pathogenic 552833 rs768814260 17:40695265-40695265 17:42543247-42543247
15 NAGLU NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)SNV Pathogenic/Likely pathogenic 522823 rs148881970 17:40695858-40695858 17:42543840-42543840
16 NAGLU NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)SNV Pathogenic/Likely pathogenic 1560 rs104894590 17:40696045-40696045 17:42544027-42544027
17 NAGLU NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)SNV Pathogenic/Likely pathogenic 371634 rs753520553 17:40689451-40689451 17:42537433-42537433
18 NAGLU NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)SNV Likely pathogenic 553260 rs752527478 17:40696140-40696140 17:42544122-42544122
19 NAGLU NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)SNV Likely pathogenic 660650 17:40695970-40695970 17:42543952-42543952
20 NAGLU NM_000263.4(NAGLU):c.531+1G>ASNV Likely pathogenic 854524 17:40689564-40689564 17:42537546-42537546
21 NAGLU NM_000263.4(NAGLU):c.933C>G (p.Ala311=)SNV Conflicting interpretations of pathogenicity 92697 rs115888189 17:40693136-40693136 17:42541118-42541118
22 NAGLU NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)SNV Conflicting interpretations of pathogenicity 167322 rs138695961 17:40695346-40695346 17:42543328-42543328
23 NAGLU NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)SNV Conflicting interpretations of pathogenicity 290320 rs112751577 17:40695539-40695539 17:42543521-42543521
24 NAGLU NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)SNV Conflicting interpretations of pathogenicity 760800 17:40696067-40696067 17:42544049-42544049
25 NAGLU NM_000263.4(NAGLU):c.510C>T (p.Gly170=)SNV Conflicting interpretations of pathogenicity 751921 17:40689542-40689542 17:42537524-42537524
26 NAGLU NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)SNV Conflicting interpretations of pathogenicity 632282 rs147036053 17:40695924-40695924 17:42543906-42543906
27 NAGLU NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3])short repeat Conflicting interpretations of pathogenicity 542459 rs1024697806 17:40688295-40688296 17:42536277-42536278
28 NAGLU NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)SNV Conflicting interpretations of pathogenicity 522295 rs115994665 17:40695470-40695470 17:42543452-42543452
29 NAGLU NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)SNV Conflicting interpretations of pathogenicity 557013 rs104894598 17:40695718-40695718 17:42543700-42543700
30 NAGLU NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)SNV Conflicting interpretations of pathogenicity 781366 17:40695488-40695488 17:42543470-42543470
31 NAGLU NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)SNV Conflicting interpretations of pathogenicity 719981 17:40695425-40695425 17:42543407-42543407
32 NAGLU NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)SNV Conflicting interpretations of pathogenicity 720198 17:40695491-40695491 17:42543473-42543473
33 NAGLU NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)SNV Conflicting interpretations of pathogenicity 725377 17:40695581-40695581 17:42543563-42543563
34 NAGLU NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)SNV Conflicting interpretations of pathogenicity 323302 rs368521316 17:40695686-40695686 17:42543668-42543668
35 NAGLU NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)SNV Conflicting interpretations of pathogenicity 323306 rs114687267 17:40696181-40696181 17:42544163-42544163
36 NAGLU NM_000263.4(NAGLU):c.348C>T (p.Ala116=)SNV Conflicting interpretations of pathogenicity 323294 rs559674042 17:40688638-40688638 17:42536620-42536620
37 NAGLU NM_000263.4(NAGLU):c.1119G>T (p.Val373=)SNV Conflicting interpretations of pathogenicity 323298 rs371656965 17:40695143-40695143 17:42543125-42543125
38 NAGLU NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)SNV Conflicting interpretations of pathogenicity 323299 rs200715586 17:40695296-40695296 17:42543278-42543278
39 NAGLU NM_000263.4(NAGLU):c.1503G>A (p.Val501=)SNV Conflicting interpretations of pathogenicity 323301 rs537078152 17:40695527-40695527 17:42543509-42543509
40 NAGLU NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)SNV Conflicting interpretations of pathogenicity 323304 rs151013014 17:40695884-40695884 17:42543866-42543866
41 NAGLU NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)SNV Uncertain significance 548579 rs764815033 17:40695328-40695328 17:42543310-42543310
42 NAGLU NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)SNV Uncertain significance 497482 rs569519789 17:40695511-40695511 17:42543493-42543493
43 NAGLU NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)deletion Uncertain significance 574862 rs1567890245 17:40688499-40688522 17:42536481-42536504
44 NAGLU NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)SNV Uncertain significance 577264 rs375458666 17:40690394-40690394 17:42538376-42538376
45 NAGLU NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)SNV Uncertain significance 566032 rs1459252305 17:40695114-40695114 17:42543096-42543096
46 NAGLU NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)SNV Uncertain significance 647311 17:40689487-40689487 17:42537469-42537469
47 NAGLU NM_000263.4(NAGLU):c.701G>A (p.Arg234His)SNV Uncertain significance 640043 17:40690710-40690710 17:42538692-42538692
48 NAGLU NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)SNV Uncertain significance 643204 17:40695301-40695301 17:42543283-42543283
49 NAGLU NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)SNV Uncertain significance 659243 17:40696066-40696066 17:42544048-42544048
50 NAGLU NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)SNV Uncertain significance 851889 17:40695454-40695454 17:42543436-42543436

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2v:

73
# Symbol AA change Variation ID SNP ID
1 NAGLU p.Ile403Thr VAR_074607 rs796052122

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2v.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2v

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2v

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2v according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.46 NAGLU IGF2R GM2A ARSF
2 lysosomal lumen GO:0043202 9.13 NEU4 NAGLU GM2A
3 lysosome GO:0005764 8.92 NEU4 NAGLU IGF2R GM2A

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2v according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 9.16 NEU4 GM2A
2 oligosaccharide catabolic process GO:0009313 8.96 NEU4 GM2A
3 ganglioside catabolic process GO:0006689 8.62 NEU4 GM2A

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2v according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.35 NEU4 NAGLU GM2A ARSK ARSF
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.26 NEU4 NAGLU
3 sulfuric ester hydrolase activity GO:0008484 9.16 ARSK ARSF
4 arylsulfatase activity GO:0004065 8.62 ARSK ARSF

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2v

3 CDC
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11 DGIdb
17 EFO
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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