ODCs

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Hereditary hemorrhagic telangiectasia

5 OMIM references -
4 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Alpha-1-antitrypsin deficiency

1 OMIM reference -
1 associated gene
6 signs/symptoms

Hereditary hemorrhagic telangiectasia

Alpha-1-antitrypsin deficiency

ACVRL1	(UniProt - OMIM)	SERPINA1	(UniProt - OMIM)
ENG	(UniProt - OMIM)
GDF2	(UniProt - OMIM)
SMAD4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.63)	SERPINA1

Citations in the biomedical literature:

Hereditary hemorrhagic telangiectasia		Alpha-1-antitrypsin deficiency
	Synonym(s): - HHT - Rendu-Osler disease - Rendu-Osler-Weber disease		Synonym(s): (no synonyms)

	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): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare renal disease - Rare respiratory 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: 1-5 / 10 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C531610 / D019896


COMMON SIGNS	- Hepatocellular liver disease / hepatic failure

Hereditary hemorrhagic telangiectasia		Alpha-1-antitrypsin deficiency
	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 - 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 - Autosomal recessive inheritance - Emphysema Frequent - Hepatitis / icterus / cholestasis - Hepatomegaly / liver enlargement (excluding storage disease) Occasional - Nephrotic syndrome