ODCs

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Hereditary hemorrhagic telangiectasia

5 OMIM references -
4 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 1

Complete androgen insensitivity syndrome

2 OMIM references -
1 associated gene
14 signs/symptoms

Hereditary hemorrhagic telangiectasia

Complete androgen insensitivity syndrome

ACVRL1	(UniProt - OMIM)	AR	(UniProt - OMIM)
ENG	(UniProt - OMIM)
GDF2	(UniProt - OMIM)
SMAD4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.88)	AR

Citations in the biomedical literature:

Hereditary hemorrhagic telangiectasia		Complete androgen insensitivity syndrome
	Synonym(s): - HHT - Rendu-Osler disease - Rendu-Osler-Weber disease		Synonym(s): - CAIS - Complete androgen resistance syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare systemic or rheumatologic 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): - Diseases of the circulatory system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive

	External references: 5 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references

Hereditary hemorrhagic telangiectasia		Complete androgen insensitivity syndrome
	Very frequent - Autosomal dominant inheritance - Epistaxis / nose bleeding - Telangiectasiae of mucosae - Telangiectasiae of the skin Frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Cavernous / tuberous hemangioma - Facial pain / cephalalgia / migraine - Functional anomalies of the cardio-circulatory system - Functional anomalies of the liver and the biliary tract - Hematomas - Microcytic anemia - Portal hypertension - Visceral angiomatosis (excluding skin) Occasional - Biliary / gallbladder stones / lithiasis / cholecystitis - Cerebral vascular anomalies - Cirrhosis - Conjunctival telangiectasia - Esophageal varices - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Heart / cardiac failure - Hematuria / microhematuria - Hemoptysis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hepatocellular liver disease / hepatic failure - Peripheral arteriovenous fistula - Polyposis of the bowel / colon / intestine - Pulmonary hypertension - Pulmonary thromboembolism - Retinal vascular anomalies / retinal telangiectasia - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke - Urinary / renal lithiasis / kidney stones / nephritic colic - Venous thrombosis / phlebitis / thrombophlebitis - Visual loss / blindness / amblyopia		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 - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets 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