MCID: ATS165
MIFTS: 12

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

MalaCards integrated aliases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g:

Name: Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 58
Charcot-Marie-Tooth Disease, Axonal, Type 2g 71
Cmt2g 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1837805
Orphanet 58 ORPHA99941
UMLS 71 C1837805

Summaries for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

MalaCards based summary : Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g, also known as charcot-marie-tooth disease, axonal, type 2g, is related to charcot-marie-tooth disease, axonal, type 2p and charcot-marie-tooth disease.

Related Diseases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Dnajb2-Related Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2p 11.8
2 charcot-marie-tooth disease 11.6
3 tooth disease 10.2

Symptoms & Phenotypes for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Drugs & Therapeutics for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Genetic Tests for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Anatomical Context for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Publications for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Articles related to Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g:

# Title Authors PMID Year
1
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. 6 61
27686364 2016
2
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. 6 61
14985381 2004
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
Charcot-Marie-Tooth Neuropathy Type 2 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301462 1998
7
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. 6
3022865 1986
8
Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease. 61
29674285 2018
9
Genetic evaluation of inherited motor/sensory neuropathy. 61
16106622 2004

Variations for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Expression for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Search GEO for disease gene expression data for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g.

Pathways for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

GO Terms for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Sources for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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