ODCs

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Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Complete androgen insensitivity syndrome

2 OMIM references -
1 associated gene
14 signs/symptoms

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

Complete androgen insensitivity syndrome

PTEN

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTEN	(0.79)	AR

Citations in the biomedical literature:

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus		Complete androgen insensitivity syndrome
	Synonym(s): - SOLAMEN syndrome		Synonym(s): - CAIS - Complete androgen resistance syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus		Complete androgen insensitivity syndrome
	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 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 - Decreased body hair / axillar / pubic hairlessness - Male pseudohermaphrodism / lack of virilisation - Primary amenorrhea - Sterility / hypofertility - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies Frequent - Inguinal / inguinoscrotal / crural hernia Occasional - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Sensitive trouble / deficit - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Tremor