MCID: MSC141
MIFTS: 19

Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 57 75 6
Mdcdc 57 75
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome 59
Congenital Muscular Dystrophy, Davignon-Chauveau Type 59

Characteristics:

OMIM:

57
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:

32
muscular dystrophy, congenital, davignon-chauveau type:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

UniProtKB/Swiss-Prot : 75 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 and skeletal muscle, and related phenotypes are high palate and neck muscle weakness

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:

57
Chest External Features:
pectus excavatum
flat thorax
funnel thorax

Respiratory:
respiratory insufficiency due to muscle weakness

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)

Skeletal Spine:
scoliosis
rigid spine

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

Skeletal:
joint hyperlaxity

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

Abdomen Gastrointestinal:
feeding difficulties due to muscle weakness


Clinical features from OMIM:

617066

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 neck muscle weakness 32 HP:0000467
3 dry skin 32 HP:0000958
4 motor delay 32 HP:0001270
5 scoliosis 32 HP:0002650
6 respiratory insufficiency due to muscle weakness 32 HP:0002747
7 spinal rigidity 32 HP:0003306
8 muscular dystrophy 32 HP:0003560
9 centrally nucleated skeletal muscle fibers 32 HP:0003687
10 severe muscular hypotonia 32 HP:0006829
11 follicular hyperkeratosis 32 HP:0007502

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

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

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

41
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
2 TRIP4 NM_016213.4(TRIP4): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic rs200549601 GRCh37 Chromosome 15, 64701934: 64701934

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....