MCID: ATS092
MIFTS: 8

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation

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

Aliases & Classifications for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

MalaCards integrated aliases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation:

Name: Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 58
Cmt2 Due to Kif5a Mutation 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA324611

Summaries for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

MalaCards based summary : Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation, is also known as cmt2 due to kif5a mutation. An important gene associated with Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation is KIF5A (Kinesin Family Member 5A). Affiliated tissues include eye.

Related Diseases for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

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

Symptoms & Phenotypes for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Drugs & Therapeutics for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation

Genetic Tests for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Anatomical Context for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

MalaCards organs/tissues related to Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation:

40
Eye

Publications for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Variations for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Expression for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Search GEO for disease gene expression data for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation.

Pathways for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

GO Terms for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

Sources for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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