MCID: ATS272
MIFTS: 16

Autosomal Dominant Intermediate Charcot-Marie-Tooth

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 54
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease 54 6
Cmtdi 54

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 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 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 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 12.4
4 charcot-marie-tooth disease, dominant intermediate a 11.9
5 charcot-marie-tooth disease, dominant intermediate d 11.9
6 charcot-marie-tooth disease, dominant intermediate c 11.9
7 charcot-marie-tooth disease, dominant intermediate f 11.9
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 10.6
11 tooth disease 10.6
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 )
2019
2
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal? ( 30873681 )
2019
3
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 GRCh38 Chromosome 7, 143339288: 143339301
2 CLCN1 NM_000083.2(CLCN1): c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) deletion Pathogenic rs768119034 GRCh37 Chromosome 7, 143036381: 143036394

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 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
Content
Loading form....