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Adult-onset distal myopathy due to VCP mutation
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Maffucci syndrome
1 OMIM reference -
2 associated genes
28 signs/symptoms
Adult-onset distal myopathy due to VCP mutation
Maffucci syndrome

VCP
(UniProt - OMIM)
 IDH1
(UniProt - OMIM)
IDH2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
VCP
(0.63)
IDH1


Citations in the biomedical literature:


Adult-onset distal myopathy due to VCP mutation
VCP
Maffucci syndrome
IDH1 IDH2



Adult-onset distal myopathy due to VCP mutation
Maffucci syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Maffucci syndrome

Very frequent
- Bone tumefaction / swelling
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Enchondroses
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Vascular anomalies of skin / mucosae
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Bone pain
- Exostoses
- Joint / articular deformation
- Scoliosis
- Short stature / dwarfism / nanism
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute palsy
- Adrenal neoplasm / tumor / carcinoma / cancer
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cranial nerves palsy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Goiter
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Parathyroid neoplasm / tumor / carcinoma / cancer
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sarcoma


Adult-onset distal myopathy due to VCP mutation

(no data available)