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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
5 OMIM references -
4 associated genes
34 signs/symptoms
Situs ambiguus
Hereditary hemorrhagic telangiectasia

ACVR2B ACVRL1
CCDC11 ENG
CFC1 GDF2
LEFTY2 SMAD4
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACVR2B
ACVR2B
(0.72)
(0.56)
ENG
GDF2



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

Hereditary hemorrhagic telangiectasia
ACVRL1 ENG GDF2 SMAD4



Situs ambiguus
Hereditary hemorrhagic telangiectasia

Synonym(s):
- Incomplete situs inversus
- Partial situs inversus
- Situs ambiguous

Synonym(s):
- HHT
- Rendu-Osler disease
- Rendu-Osler-Weber disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac 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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
(no data available)
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:
No OMIM references
No MeSH references
External references:
5 OMIM references -
No MeSH references

Hereditary hemorrhagic telangiectasia

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


Situs ambiguus

(no data available)