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Adult-onset distal myopathy due to VCP mutation
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Limited cutaneous systemic sclerosis
6 associated genes
19 signs/symptoms
Adult-onset distal myopathy due to VCP mutation
Limited cutaneous systemic sclerosis

VCP
(UniProt - OMIM)
 CAV1
(UniProt - OMIM)
CCR6
(UniProt - OMIM)
CTGF
(UniProt - OMIM)
HLA-DRB1
(UniProt - OMIM)
IRF5
(UniProt - OMIM)
KIAA0319L
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VCP
VCP
(0.8)
(0.63)
CAV1
HLA-DRB1


Citations in the biomedical literature:


Adult-onset distal myopathy due to VCP mutation
VCP
Limited cutaneous systemic sclerosis
CAV1 CCR6 CTGF HLA-DRB1 IRF5 KIAA0319L



Adult-onset distal myopathy due to VCP mutation
Limited cutaneous systemic sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- Limited cutaneous systemic scleroderma
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare renal disease
- Rare respiratory disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Limited cutaneous systemic sclerosis

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of skin, subcutaneous tissue and mucosae
- Autoimmunity / autoimmune reaction / autoantibodies
- Dermal / subcutaneous infiltration / induration
- Dry / squaly skin / exfoliation
- Irregular / patchy skin hypopigmentation

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Periarticular tissue anomaly / extraarticular calcifications
- Telangiectasiae of mucosae
- Telangiectasiae of the skin

Occasional
- Claw hand / retracted fingers
- Claw toes / retracted toes
- Lung fibrosis
- Musculo-tendinous retractions
- Pulmonary hypertension


Adult-onset distal myopathy due to VCP mutation

(no data available)