ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 associated gene
21 signs/symptoms

BAP1-related tumor predisposition syndrome

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BAP1	(0.63)	PTEN

Citations in the biomedical literature:

BAP1-related tumor predisposition syndrome		Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
	Synonym(s): - Tumor susceptibility linked to germline BAP1 mutations		Synonym(s): - SOLAMEN syndrome

	Classification (Orphanet): - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Follicular / erythematous / edematous papules / milium - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Lymphangioma / lymphatic malformations - Rippled skin - Subcutaneous nodules / lipomas / tumefaction / swelling - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Varices / varicous veins / venous insufficiency Frequent - Hamartoma / tumefaction of the tongue / gingivae / oral mucosa - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Breast neoplasm / tumor / carcinoma / cancer - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mutiple fractures / bone fragility - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Talipes-varus / metatarsal varus - Thyroid neoplasm / tumor / carcinoma / cancer - Visceral angiomatosis (excluding skin)
BAP1-related tumor predisposition syndrome
(no data available)