MDCDC
MCID: MSC141
MIFTS: 22

Muscular Dystrophy, Congenital, Davignon-Chauveau Type (MDCDC)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin 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 72 29 6
Mdcdc 57 72
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome 58
Congenital Muscular Dystrophy, Davignon-Chauveau Type 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

UniProtKB/Swiss-Prot : 72 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 emg: myopathic abnormalities and respiratory insufficiency due to muscle weakness

More information from OMIM: 617066

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

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

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

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
2 respiratory insufficiency due to muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002747
3 joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001388
4 follicular hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007502
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 high palate 58 31 occasional (7.5%) Frequent (79-30%) HP:0000218
7 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
8 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
9 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
10 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
11 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
12 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
13 poor head control 58 31 frequent (33%) Frequent (79-30%) HP:0002421
14 limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003690
15 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
16 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
17 minicore myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003789
18 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
19 neck muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0000467
20 centrally nucleated skeletal muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003687
21 abnormal elasticity of skin 58 31 frequent (33%) Frequent (79-30%) HP:0010647
22 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
23 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
24 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 multiple joint contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002828
26 weak cry 58 31 occasional (7.5%) Occasional (29-5%) HP:0001612
27 mildly elevated creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0008180
28 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
29 overweight 58 31 occasional (7.5%) Occasional (29-5%) HP:0025502
30 feeding difficulties 58 31 Frequent (79-30%) HP:0011968
31 severe muscular hypotonia 31 HP:0006829
32 muscular dystrophy 31 HP:0003560

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
rigid spine

Chest External Features:
pectus excavatum
flat thorax
funnel thorax

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)

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

Respiratory:
respiratory insufficiency due to muscle weakness

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 (Updated 05-Apr-2021)

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 29 TRIP4

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

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

40
Skin, Skeletal Muscle

Publications for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

Articles related to Muscular Dystrophy, Congenital, Davignon-Chauveau Type:

# Title Authors PMID Year
1
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. 57 6
27008887 2016

Variations for Muscular Dystrophy, Congenital, Davignon-Chauveau Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIP4 NM_016213.5(TRIP4):c.950G>A (p.Arg317Gln) SNV Pathogenic 253117 rs200549601 GRCh37: 15:64701934-64701934
GRCh38: 15:64409735-64409735
2 TRIP4 NM_016213.5(TRIP4):c.1065del (p.Ile356fs) Deletion Uncertain significance 977162 GRCh37: 15:64706304-64706304
GRCh38: 15:64414105-64414105
3 TRIP4 NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys) SNV Uncertain significance 1030539 GRCh37: 15:64716336-64716336
GRCh38: 15:64424137-64424137

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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