MCID: CNG505
MIFTS: 6

Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome

Categories: Neuronal diseases, Rare diseases, Skin diseases, Muscle diseases

Aliases & Classifications for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

MalaCards integrated aliases for Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome:

Name: Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome 56
Congenital Muscular Dystrophy, Davignon-Chauveau Type 56

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA486815

Summaries for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

MalaCards based summary : Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome, is also known as congenital muscular dystrophy, davignon-chauveau type. An important gene associated with Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include skin.

Related Diseases for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

Drugs & Therapeutics for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome

Genetic Tests for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

Anatomical Context for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome:

39
Skin

Publications for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

Variations for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRIP4 NM_016213.4(TRIP4): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic rs200549601 GRCh38 Chromosome 15, 64409735: 64409735

Expression for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome.

Pathways for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

GO Terms for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

Sources for Congenital Muscular Dystrophy-Respiratory Failure-Skin...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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