CMTDI
MCID: ATS272
MIFTS: 16

Autosomal Dominant Intermediate Charcot-Marie-Tooth (CMTDI)

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

Aliases & Classifications for Autosomal Dominant Intermediate Charcot-Marie-Tooth

MalaCards integrated aliases for Autosomal Dominant Intermediate Charcot-Marie-Tooth:

Name: Autosomal Dominant Intermediate Charcot-Marie-Tooth 53
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease 53 6
Cmtdi 53

Classifications:



Summaries for Autosomal Dominant Intermediate Charcot-Marie-Tooth

MalaCards based summary : Autosomal Dominant Intermediate Charcot-Marie-Tooth, also known as autosomal dominant intermediate charcot-marie-tooth disease, is related to autosomal dominant intermediate charcot-marie-tooth disease type b and autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain. An important gene associated with Autosomal Dominant Intermediate Charcot-Marie-Tooth is CLCN1 (Chloride Voltage-Gated Channel 1).

Related Diseases for Autosomal Dominant Intermediate Charcot-Marie-Tooth

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 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 2dd Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant intermediate charcot-marie-tooth disease type b 12.6
2 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain 12.6
3 charcot-marie-tooth disease, dominant intermediate e 12.3
4 charcot-marie-tooth disease, dominant intermediate a 11.8
5 charcot-marie-tooth disease, dominant intermediate d 11.8
6 charcot-marie-tooth disease, dominant intermediate c 11.8
7 charcot-marie-tooth disease, dominant intermediate f 11.8
8 charcot-marie-tooth disease, dominant intermediate b 11.6
9 charcot-marie-tooth disease, dominant intermediate g 11.1
10 charcot-marie-tooth disease 10.5
11 tooth disease 10.5
12 focal segmental glomerulosclerosis 1 10.4
13 focal segmental glomerulosclerosis 10.4

Graphical network of the top 20 diseases related to Autosomal Dominant Intermediate Charcot-Marie-Tooth:



Diseases related to Autosomal Dominant Intermediate Charcot-Marie-Tooth

Symptoms & Phenotypes for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Drugs & Therapeutics for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Genetic Tests for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Anatomical Context for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Publications for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Articles related to Autosomal Dominant Intermediate Charcot-Marie-Tooth:

# Title Authors Year
1
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease. ( 30394614 )
2018
2
A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. ( 24750328 )
2014

Variations for Autosomal Dominant Intermediate Charcot-Marie-Tooth

ClinVar genetic disease variations for Autosomal Dominant Intermediate Charcot-Marie-Tooth:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN1 NM_000083.2(CLCN1): c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) deletion Pathogenic rs768119034 GRCh37 Chromosome 7, 143036381: 143036394
2 CLCN1 NM_000083.2(CLCN1): c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) deletion Pathogenic rs768119034 GRCh38 Chromosome 7, 143339288: 143339301

Expression for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Search GEO for disease gene expression data for Autosomal Dominant Intermediate Charcot-Marie-Tooth.

Pathways for Autosomal Dominant Intermediate Charcot-Marie-Tooth

GO Terms for Autosomal Dominant Intermediate Charcot-Marie-Tooth

Sources for Autosomal Dominant Intermediate Charcot-Marie-Tooth

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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