MCID: CHR553
MIFTS: 12

Charcot-Marie-Tooth Disease Type 2q

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

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2q

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2q:

Name: Charcot-Marie-Tooth Disease Type 2q 54
Charcot-Marie-Tooth Disease, Axonal, Type 2q 54 74
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2q 54
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q 54
Charcot-Marie-Tooth Neuropathy, Type 2q 54
Cmt2q 54

Classifications:



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UMLS 74 C3554366

Summaries for Charcot-Marie-Tooth Disease Type 2q

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2q, also known as charcot-marie-tooth disease, axonal, type 2q, is related to charcot-marie-tooth disease, axonal, type 2q. An important gene associated with Charcot-Marie-Tooth Disease Type 2q is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1).

Related Diseases for Charcot-Marie-Tooth Disease Type 2q

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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
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 Pmp2-Related Charcot-Marie-Tooth Disease Type 1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2q 11.9

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2q

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2q

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

Genetic Tests for Charcot-Marie-Tooth Disease Type 2q

Anatomical Context for Charcot-Marie-Tooth Disease Type 2q

Publications for Charcot-Marie-Tooth Disease Type 2q

Variations for Charcot-Marie-Tooth Disease Type 2q

Expression for Charcot-Marie-Tooth Disease Type 2q

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2q.

Pathways for Charcot-Marie-Tooth Disease Type 2q

GO Terms for Charcot-Marie-Tooth Disease Type 2q

Sources for Charcot-Marie-Tooth Disease Type 2q

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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