ODCs

Click node...

3 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
28 signs/symptoms

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Maffucci syndrome


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

Citations in the biomedical literature:

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		Maffucci syndrome
	Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: - Average age onset: - 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: 3 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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)