ODCs

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Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

1 OMIM reference -
2 associated genes
17 signs/symptoms

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

PTEN	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTEN	(0.63)	KRT14

Citations in the biomedical literature:

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Synonym(s): - SOLAMEN syndrome		Synonym(s): - Epidermolysis bullosa simplex, Koebner type - Epidermolysis bullosa simplex, KÃ¶bner type - Generalized EBS, non-Dowling-Meara type

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535961


COMMON SIGNS	- Follicular / erythematous / edematous papules / milium

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - 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)		Very frequent - Autosomal recessive inheritance - Enanthema / aphtosa / aphta / leukoplakia - Mucosal / cutaneous hemorrhage - Muscle weakness / flaccidity - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Enamel anomaly - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Palmoplantar hyperkeratosis / keratoderma - Ptosis - Respiratory rhythm disorder Occasional - Failure to thrive / difficulties for feeding in infancy / growth delay - Myasthenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction