ODCs

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Foveal hypoplasia - presenile cataract

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Hereditary hemorrhagic telangiectasia

5 OMIM references -
4 associated genes
34 signs/symptoms

Foveal hypoplasia - presenile cataract

Hereditary hemorrhagic telangiectasia

PAX6	(UniProt - OMIM)	ACVRL1	(UniProt - OMIM)
		ENG	(UniProt - OMIM)
		GDF2	(UniProt - OMIM)
		SMAD4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6	(0.63)	SMAD4

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Hereditary hemorrhagic telangiectasia
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - HHT - Rendu-Osler disease - Rendu-Osler-Weber disease

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		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 (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Foveal hypoplasia - presenile cataract		Hereditary hemorrhagic telangiectasia
	Very frequent - Anomalies of eyes and vision - Cataract / lens opacification - Diffuse / generalised skin hyperpigmentation / melanoderma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla Frequent - Strabismus / squint		Very frequent - 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