MDCDC
MCID: MSC141
MIFTS: 21

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

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 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 pectus excavatum and high palate

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 high palate 59 32 occasional (7.5%) Frequent (79-30%) HP:0000218
3 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
4 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
5 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
6 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
7 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
8 respiratory insufficiency due to muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002747
9 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
10 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
11 spinal rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0003306
12 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
13 joint laxity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001388
14 mildly elevated creatine phosphokinase 59 32 occasional (7.5%) Occasional (29-5%) HP:0008180
15 weak cry 59 32 occasional (7.5%) Occasional (29-5%) HP:0001612
16 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
17 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
18 limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003690
19 neck muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0000467
20 multiple joint contractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002828
21 follicular hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007502
22 centrally nucleated skeletal muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003687
23 minicore myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003789
24 poor head control 59 32 frequent (33%) Frequent (79-30%) HP:0002421
25 pes valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0008081
26 abnormal elasticity of skin 59 32 frequent (33%) Frequent (79-30%) HP:0010647
27 gastrostomy tube feeding in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0011471
28 overweight 59 32 occasional (7.5%) Occasional (29-5%) HP:0025502
29 feeding difficulties 59 Frequent (79-30%)
30 emg: myopathic abnormalities 59 Very frequent (99-80%)
31 muscular dystrophy 32 HP:0003560
32 severe muscular hypotonia 32 HP:0006829
33 emg 32 hallmark (90%) HP:0003458

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

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74 UMLS via Orphanet
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