CMT2U
MCID: CHR547
MIFTS: 33

Charcot-Marie-Tooth Disease, Axonal, Type 2u (CMT2U)

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2u 57 29 6 40
Cmt2u 57 12 59 75
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u 57 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u 12 59
Charcot-Marie-Tooth Disease Axonal Type 2u 12 15
Charcot-Marie-Tooth Neuropathy, Type 2u 57 75
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation 59
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u 12
Charcot-Marie-Tooth Neuropathy Type 2u 12
Charcot-Marie-Tooth Disease 2u 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2u
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
two unrelated families have been reported (last curated march 2015)
late-adult onset (age 50 or later)


HPO:

32
charcot-marie-tooth disease, axonal, type 2u:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616280
Disease Ontology 12 DOID:0110173
ICD10 33 G60.0
Orphanet 59 ORPHA397735
ICD10 via Orphanet 34 G60.0
MeSH 44 D002607

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

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2U: 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. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2u, also known as cmt2u, is related to neuropathy and charcot-marie-tooth disease, axonal, type 2e. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2u is MARS (Methionyl-TRNA Synthetase), and among its related pathways/superpathways are Translational Control and Protein processing in endoplasmic reticulum. Affiliated tissues include skin, lung and liver, and related phenotypes are areflexia and foot dorsiflexor weakness

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MARS gene on chromosome 12q13.

OMIM : 57 Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). (616280)

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

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
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Deffect

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

# Related Disease Score Top Affiliating Genes
1 neuropathy 10.5
2 charcot-marie-tooth disease, axonal, type 2e 9.7 GARS MARS
3 interstitial lung and liver disease 9.5 ARHGAP9 DDIT3 MARS MIR6758

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
steppage gait
distal sensory impairment
foot drop
axonal neuropathy

Muscle Soft Tissue:
distal muscle weakness of upper and lower limbs due to peripheral neuropathy
distal muscle atrophy of upper and lower limbs due to peripheral neuropathy


Clinical features from OMIM:

616280

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

32
# Description HPO Frequency HPO Source Accession
1 areflexia 32 HP:0001284
2 foot dorsiflexor weakness 32 HP:0009027
3 peripheral axonal neuropathy 32 HP:0003477
4 steppage gait 32 HP:0003376
5 distal sensory impairment 32 HP:0002936

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

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

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

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

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

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2u:

41
Skin, Lung, Liver

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

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

# Title Authors Year
1
Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U. ( 29582526 )
2018

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

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

75
# Symbol AA change Variation ID SNP ID
1 MARS p.Arg618Cys VAR_073377 rs587777718
2 MARS p.Pro800Thr VAR_073378 rs781249411

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

6 (show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 MARS NM_004990.3(MARS): c.1852C> T (p.Arg618Cys) single nucleotide variant Uncertain significance rs587777718 GRCh37 Chromosome 12, 57906632: 57906632
2 MARS NM_004990.3(MARS): c.1852C> T (p.Arg618Cys) single nucleotide variant Uncertain significance rs587777718 GRCh38 Chromosome 12, 57512849: 57512849
3 MARS NM_004990.3(MARS): c.2398C> A (p.Pro800Thr) single nucleotide variant Pathogenic rs781249411 GRCh37 Chromosome 12, 57909709: 57909709
4 MARS NM_004990.3(MARS): c.2398C> A (p.Pro800Thr) single nucleotide variant Pathogenic rs781249411 GRCh38 Chromosome 12, 57515926: 57515926
5 MARS NM_004990.3(MARS): c.1753+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs117914586 GRCh37 Chromosome 12, 57906143: 57906143
6 MARS NM_004990.3(MARS): c.1753+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs117914586 GRCh38 Chromosome 12, 57512360: 57512360
7 MARS NM_004990.3(MARS): c.42G> T (p.Pro14=) single nucleotide variant Likely benign rs144002827 GRCh37 Chromosome 12, 57881915: 57881915
8 MARS NM_004990.3(MARS): c.42G> T (p.Pro14=) single nucleotide variant Likely benign rs144002827 GRCh38 Chromosome 12, 57488132: 57488132
9 MARS NM_004990.3(MARS): c.1294-5C> T single nucleotide variant Benign/Likely benign rs149946100 GRCh37 Chromosome 12, 57898003: 57898003
10 MARS NM_004990.3(MARS): c.1294-5C> T single nucleotide variant Benign/Likely benign rs149946100 GRCh38 Chromosome 12, 57504220: 57504220
11 MARS NM_004990.3(MARS): c.2180G> A (p.Arg727Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs113808165 GRCh37 Chromosome 12, 57908817: 57908817
12 MARS NM_004990.3(MARS): c.2180G> A (p.Arg727Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs113808165 GRCh38 Chromosome 12, 57515034: 57515034
13 MARS NM_004990.3(MARS): c.1500A> G (p.Lys500=) single nucleotide variant Benign rs2290297 GRCh37 Chromosome 12, 57905612: 57905612
14 MARS NM_004990.3(MARS): c.1500A> G (p.Lys500=) single nucleotide variant Benign rs2290297 GRCh38 Chromosome 12, 57511829: 57511829
15 MARS NM_004990.3(MARS): c.2391A> C (p.Thr797=) single nucleotide variant Conflicting interpretations of pathogenicity rs140573721 GRCh37 Chromosome 12, 57909119: 57909119
16 MARS NM_004990.3(MARS): c.2391A> C (p.Thr797=) single nucleotide variant Conflicting interpretations of pathogenicity rs140573721 GRCh38 Chromosome 12, 57515336: 57515336
17 MARS NM_004990.3(MARS): c.873C> T (p.Ala291=) single nucleotide variant Benign rs79531790 GRCh37 Chromosome 12, 57892042: 57892042
18 MARS NM_004990.3(MARS): c.873C> T (p.Ala291=) single nucleotide variant Benign rs79531790 GRCh38 Chromosome 12, 57498259: 57498259
19 MARS NM_004990.3(MARS): c.1689C> T (p.Val563=) single nucleotide variant Benign rs117833843 GRCh38 Chromosome 12, 57512289: 57512289
20 MARS NM_004990.3(MARS): c.1689C> T (p.Val563=) single nucleotide variant Benign rs117833843 GRCh37 Chromosome 12, 57906072: 57906072
21 MARS NM_004990.3(MARS): c.2532G> A (p.Ala844=) single nucleotide variant Benign rs73344102 GRCh37 Chromosome 12, 57910096: 57910096
22 MARS NM_004990.3(MARS): c.2532G> A (p.Ala844=) single nucleotide variant Benign rs73344102 GRCh38 Chromosome 12, 57516313: 57516313
23 MARS NM_004990.3(MARS): c.661G> A (p.Glu221Lys) single nucleotide variant Uncertain significance rs200334446 GRCh38 Chromosome 12, 57490377: 57490377
24 MARS NM_004990.3(MARS): c.661G> A (p.Glu221Lys) single nucleotide variant Uncertain significance rs200334446 GRCh37 Chromosome 12, 57884160: 57884160
25 MARS NM_004990.3(MARS): c.1091+2dup duplication Uncertain significance rs1131691723 GRCh37 Chromosome 12, 57892408: 57892408
26 MARS NM_004990.3(MARS): c.1091+2dup duplication Uncertain significance rs1131691723 GRCh38 Chromosome 12, 57498625: 57498625
27 MARS NM_004990.3(MARS): c.747G> A (p.Pro249=) single nucleotide variant Conflicting interpretations of pathogenicity rs200490364 GRCh37 Chromosome 12, 57884404: 57884404
28 MARS NM_004990.3(MARS): c.747G> A (p.Pro249=) single nucleotide variant Conflicting interpretations of pathogenicity rs200490364 GRCh38 Chromosome 12, 57490621: 57490621
29 MARS NM_004990.3(MARS): c.699T> G (p.Ile233Met) single nucleotide variant Uncertain significance rs201597392 GRCh37 Chromosome 12, 57884356: 57884356
30 MARS NM_004990.3(MARS): c.699T> G (p.Ile233Met) single nucleotide variant Uncertain significance rs201597392 GRCh38 Chromosome 12, 57490573: 57490573
31 MARS NM_004990.3(MARS): c.95C> G (p.Thr32Ser) single nucleotide variant Uncertain significance rs11540809 GRCh38 Chromosome 12, 57488185: 57488185
32 MARS NM_004990.3(MARS): c.95C> G (p.Thr32Ser) single nucleotide variant Uncertain significance rs11540809 GRCh37 Chromosome 12, 57881968: 57881968
33 MARS NM_004990.3(MARS): c.1812G> A (p.Gly604=) single nucleotide variant Benign rs117633211 GRCh38 Chromosome 12, 57512809: 57512809
34 MARS NM_004990.3(MARS): c.1812G> A (p.Gly604=) single nucleotide variant Benign rs117633211 GRCh37 Chromosome 12, 57906592: 57906592
35 MARS NM_004990.3(MARS): c.2163G> C (p.Val721=) single nucleotide variant Likely benign rs762587995 GRCh38 Chromosome 12, 57515017: 57515017
36 MARS NM_004990.3(MARS): c.2163G> C (p.Val721=) single nucleotide variant Likely benign rs762587995 GRCh37 Chromosome 12, 57908800: 57908800
37 MARS NM_004990.3(MARS): c.2209C> A (p.Arg737=) single nucleotide variant Benign rs139536122 GRCh38 Chromosome 12, 57515154: 57515154
38 MARS NM_004990.3(MARS): c.2209C> A (p.Arg737=) single nucleotide variant Benign rs139536122 GRCh37 Chromosome 12, 57908937: 57908937
39 MARS NM_004990.3(MARS): c.2256C> G (p.Leu752=) single nucleotide variant Likely benign rs201540140 GRCh38 Chromosome 12, 57515201: 57515201
40 MARS NM_004990.3(MARS): c.2256C> G (p.Leu752=) single nucleotide variant Likely benign rs201540140 GRCh37 Chromosome 12, 57908984: 57908984
41 MARS NM_004990.3(MARS): c.1095C> T (p.Ile365=) single nucleotide variant Likely benign GRCh37 Chromosome 12, 57894107: 57894107
42 MARS NM_004990.3(MARS): c.1095C> T (p.Ile365=) single nucleotide variant Likely benign GRCh38 Chromosome 12, 57500324: 57500324
43 MARS NM_004990.3(MARS): c.2053G> A (p.Val685Ile) single nucleotide variant Uncertain significance rs558631075 GRCh37 Chromosome 12, 57908588: 57908588
44 MARS NM_004990.3(MARS): c.2053G> A (p.Val685Ile) single nucleotide variant Uncertain significance rs558631075 GRCh38 Chromosome 12, 57514805: 57514805
45 MARS NM_004990.3(MARS): c.132C> T (p.Thr44=) single nucleotide variant Likely benign GRCh37 Chromosome 12, 57882824: 57882824
46 MARS NM_004990.3(MARS): c.132C> T (p.Thr44=) single nucleotide variant Likely benign GRCh38 Chromosome 12, 57489041: 57489041
47 MARS NM_004990.3(MARS): c.414+9G> C single nucleotide variant Likely benign rs375026310 GRCh37 Chromosome 12, 57883350: 57883350
48 MARS NM_004990.3(MARS): c.414+9G> C single nucleotide variant Likely benign rs375026310 GRCh38 Chromosome 12, 57489567: 57489567
49 MARS NM_004990.3(MARS): c.663+8A> C single nucleotide variant Likely benign rs199843552 GRCh37 Chromosome 12, 57884170: 57884170
50 MARS NM_004990.3(MARS): c.663+8A> C single nucleotide variant Likely benign rs199843552 GRCh38 Chromosome 12, 57490387: 57490387

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

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

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

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2u according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.44 DDIT3 PDIA3
2 11.17 DDIT3 PDIA3
3
Show member pathways
11.04 GARS MARS MIR6758

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

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

# Name GO ID Score Top Affiliating Genes
1 response to endoplasmic reticulum stress GO:0034976 9.16 DDIT3 PDIA3
2 cell redox homeostasis GO:0045454 8.96 DDIT3 PDIA3
3 tRNA aminoacylation for protein translation GO:0006418 8.62 GARS MARS

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 8.96 GARS MARS
2 aminoacyl-tRNA ligase activity GO:0004812 8.62 GARS MARS

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

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11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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