MCID: MSC141
MIFTS: 20

Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Categories: Genetic diseases, Muscle diseases, Skin diseases, Neuronal diseases, Rare 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 53 71 28
Mdcdc 53 71
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome 55
Congenital Muscular Dystrophy, Davignon-Chauveau Type 55

Characteristics:

OMIM:

53
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)


HPO:

31
muscular dystrophy, congenital, davignon-chauveau type:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


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, and has symptoms including dry skin, high palate and scoliosis. An important gene associated with Muscular Dystrophy, Congenital, Davignon-Chauveau Type is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include skin and skeletal muscle.

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:

53
Skin Nails Hair Skin:
dry skin
follicular hyperkeratosis
hyperelasticity, mild

Skeletal Spine:
scoliosis
rigid spine

Head And Neck Neck:
neck muscle weakness

Muscle Soft Tissue:
myopathic features seen on emg
hypotonia, severe
centralized nuclei
muscle biopsy shows dystrophic changes
fiber size variability
more
Neurologic Central Nervous System:
delayed motor development, severe
learning difficulties (in 2 patients)

Chest External Features:
pectus excavatum
flat thorax
funnel thorax

Respiratory:
respiratory insufficiency due to muscle weakness

Skeletal:
joint hyperlaxity

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

Abdomen Gastroin testinal:
feeding difficulties due to muscle weakness


Clinical features from OMIM:

617066

Human phenotypes related to Muscular Dystrophy, Congenital, Davignon-Chauveau Type:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 dry skin 31 HP:0000958
2 high palate 31 occasional (7.5%) HP:0000218
3 scoliosis 31 HP:0002650
4 respiratory insufficiency due to muscle weakness 31 HP:0002747
5 spinal rigidity 31 HP:0003306
6 motor delay 31 HP:0001270
7 muscular dystrophy 31 HP:0003560
8 follicular hyperkeratosis 31 HP:0007502
9 centrally nucleated skeletal muscle fibers 31 HP:0003687
10 severe muscular hypotonia 31 HP:0006829
11 neck muscle weakness 31 HP:0000467

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:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 28 TRIP4

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

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

38
Skin, Skeletal Muscle

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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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