ODCs

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Hereditary hemorrhagic telangiectasia

5 OMIM references -
4 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Greig cephalopolysyndactyly syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Hereditary hemorrhagic telangiectasia

Greig cephalopolysyndactyly syndrome

ACVRL1	(UniProt - OMIM)	GLI3	(UniProt - OMIM)
ENG	(UniProt - OMIM)
GDF2	(UniProt - OMIM)
SMAD4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.52)	GLI3

Citations in the biomedical literature:

Hereditary hemorrhagic telangiectasia		Greig cephalopolysyndactyly syndrome
	Synonym(s): - HHT - Rendu-Osler disease - Rendu-Osler-Weber disease		Synonym(s): - GCPS

	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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537300


COMMON SIGNS	- Autosomal dominant inheritance - Seizures / epilepsy / absences / spasms / status epilepticus

Hereditary hemorrhagic telangiectasia		Greig cephalopolysyndactyly syndrome
	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 - Transient cerebral ischemia / stroke - Urinary / renal lithiasis / kidney stones / nephritic colic - Venous thrombosis / phlebitis / thrombophlebitis - Visual loss / blindness / amblyopia		Very frequent - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) - Preaxial polydactyly of toes / big toe duplication Frequent - Advanced bone age - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypertelorism - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telecanthus / canthal dystopy Occasional - Broad / bifid big toe - Broad / bifid thumb - Corpus callosum / septum pellucidum total / partial agenesis - Craniostenosis / craniosynostosis / sutural synostosis - Diaphragmatic hernia / defect / agenesis - Hydrocephaly - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Postaxial polydactyly of toes / fifth supernumerary toe - Preaxial polydactyly (hand) - Umbilical hernia