MCID: MSC141
MIFTS: 13

Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Davignon-Chauveau Type:

Name: Muscular Dystrophy, Congenital, Davignon-Chauveau Type 54 71 29
Mdcdc 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
patients become wheelchair bound in the second decade
one consanguineous family has been reported (last curated august 2016)


Classifications:



External Ids:

OMIM 54 617066
MedGen 40 CN237803
MeSH 42 D009136

Summaries for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

UniProtKB/Swiss-Prot : 71 Muscular dystrophy, congenital, Davignon-Chauveau type: An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions.

MalaCards based summary : Muscular Dystrophy, Congenital, Davignon-Chauveau Type, is also known as mdcdc. An important gene associated with Muscular Dystrophy, Congenital, Davignon-Chauveau Type is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include skin.

Description from OMIM: 617066

Related Diseases for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
rigid spine

Skin Nails & Hair- Skin:
dry skin
follicular hyperkeratosis
hyperelasticity, mild

Respiratory:
respiratory insufficiency due to muscle weakness

Skeletal:
joint hyperlaxity

Neurologic- Central Nervous System:
delayed motor development, severe
learning difficulties (in 2 patients)

Muscle Soft Tissue:
hypotonia, severe
muscle biopsy shows dystrophic changes
rounded fibers
centralized nuclei
fiber size variability
more
Head And Neck- Neck:
neck muscle weakness

Abdomen- Gastroin testinal:
feeding difficulties due to muscle weakness

Head And Neck- Mouth:
high-arched palate (1 patient)


Clinical features from OMIM:

617066

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Genetic Tests for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Genetic tests related to Muscular Dystrophy, Congenital, Davignon-Chauveau Type:

id Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 29

Anatomical Context for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Davignon-Chauveau Type:

39
Skin

Publications for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Variations for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Davignon-Chauveau Type:

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 Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Search GEO for disease gene expression data for Muscular Dystrophy, Congenital, Davignon-Chauveau Type.

Pathways for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

GO Terms for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Sources for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

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
Content
Loading form....