MCID: DNM001
MIFTS: 11

Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

MalaCards integrated aliases for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy:

Name: Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 24
Dominant Intermediate Charcot-Marie-Tooth Neuropathy Type B 24
Charcot-Marie-Tooth Disease, Dominant Intermediate B 73
Di-Cmtb 24

Characteristics:

GeneReviews:

24
Penetrance Dnm2 pathogenic variants are penetrant over a wide range of ages (age 2-50 years) [claeys et al 2009, haberlová et al 2011]...

Classifications:



External Ids:

UMLS 73 C1847902

Summaries for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

MalaCards based summary : Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy, also known as dominant intermediate charcot-marie-tooth neuropathy type b, is related to autosomal dominant intermediate charcot-marie-tooth disease type b and charcot-marie-tooth disease, dominant intermediate b. An important gene associated with Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy is DNM2 (Dynamin 2).

GeneReviews: NBK45014

Related Diseases for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

Charcot-Marie-Tooth Neuropathy Type 2a Charcot-Marie-Tooth Neuropathy Type 2e/1f
Charcot-Marie-Tooth Neuropathy Type 4j Charcot-Marie-Tooth Neuropathy X Type 1
Charcot-Marie-Tooth Neuropathy X Type 5 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Diseases related to Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant intermediate charcot-marie-tooth disease type b 12.0
2 charcot-marie-tooth disease, dominant intermediate b 11.6
3 neuropathy 10.5

Symptoms & Phenotypes for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Drugs & Therapeutics for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Search Clinical Trials , NIH Clinical Center for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Genetic Tests for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Anatomical Context for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Publications for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Articles related to Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy:

# Title Authors Year
1
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy ( 20614582 )
1993

Variations for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Expression for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Search GEO for disease gene expression data for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy.

Pathways for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

GO Terms for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Sources for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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