CMTDI
MCID: ATS272
MIFTS: 19

Autosomal Dominant Intermediate Charcot-Marie-Tooth (CMTDI)

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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 20
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease 20 58 6
Cmtdi 20 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA90114

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 charcot-marie-tooth disease, dominant intermediate e and tooth disease. An important gene associated with Autosomal Dominant Intermediate Charcot-Marie-Tooth is INF2 (Inverted Formin 2). Affiliated tissues include eye, and related phenotype is muscle.

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 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

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate e 32.7 SH3TC2 INF2
2 tooth disease 30.1 SH3TC2 INF2 IGHMBP2
3 polyneuropathy 29.9 SH3TC2 IGHMBP2
4 charcot-marie-tooth disease 29.6 SH3TC2 INF2 IGHMBP2 CLCN1
5 charcot-marie-tooth disease, dominant intermediate a 11.7
6 charcot-marie-tooth disease, dominant intermediate d 11.7
7 charcot-marie-tooth disease, dominant intermediate c 11.7
8 charcot-marie-tooth disease, dominant intermediate f 11.7
9 charcot-marie-tooth disease, dominant intermediate b 11.5
10 charcot-marie-tooth disease, axonal, type 2p 11.5
11 autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain 11.5
12 charcot-marie-tooth disease, dominant intermediate g 10.9
13 focal segmental glomerulosclerosis 10.4
14 proteinuria, chronic benign 10.3
15 charcot-marie-tooth disease intermediate type 9.9 SH3TC2 INF2
16 charcot-marie-tooth disease, axonal, type 2t 9.8 SH3TC2 IGHMBP2
17 autosomal dominant distal hereditary motor neuronopathy 9.7 SH3TC2 IGHMBP2
18 motor peripheral neuropathy 9.7 SH3TC2 IGHMBP2
19 neuropathy, hereditary sensory and autonomic, type iia 9.7 SH3TC2 IGHMBP2
20 ptosis 9.6 IGHMBP2 CLCN1
21 muscular atrophy 9.6 SH3TC2 IGHMBP2
22 spinal muscular atrophy 9.5 SH3TC2 IGHMBP2
23 charcot-marie-tooth disease, axonal, type 2e 9.4 SH3TC2 INF2 IGHMBP2
24 neuromuscular disease 9.2 SH3TC2 INF2 IGHMBP2 CLCN1

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

MGI Mouse Phenotypes related to Autosomal Dominant Intermediate Charcot-Marie-Tooth:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 CLCN1 IGHMBP2 SH3TC2

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

MalaCards organs/tissues related to Autosomal Dominant Intermediate Charcot-Marie-Tooth:

40
Eye

Publications for Autosomal Dominant Intermediate Charcot-Marie-Tooth

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

# Title Authors PMID Year
1
[Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy]. 61
31515790 2019
2
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease. 61
30394614 2019
3
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal? 61
30873681 2019
4
A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. 61
24750328 2014

Variations for Autosomal Dominant Intermediate Charcot-Marie-Tooth

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN1 NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) Deletion Uncertain significance 279778 rs768119034 GRCh37: 7:143036380-143036393
GRCh38: 7:143339287-143339300
2 IGHMBP2 NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) SNV Uncertain significance 694859 rs1413846126 GRCh37: 11:68703872-68703872
GRCh38: 11:68936404-68936404
3 SH3TC2 NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) SNV Uncertain significance 694970 rs77636085 GRCh37: 5:148389868-148389868
GRCh38: 5:149010305-149010305

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
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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