Hereditary hemorrhagic telangiectasia |
Deafness - lymphedema - leukemia |
ACVRL1 | GATA2 | |||
ENG | ||||
GDF2 | ||||
SMAD4 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
SMAD4 | (0.86) | GATA2 | |
Citations in the biomedical literature:
COMMON SIGNS |
- Autosomal dominant inheritance - Facial pain / cephalalgia / migraine - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Visual loss / blindness / amblyopia |
Hereditary hemorrhagic telangiectasia |
Deafness - lymphedema - leukemia |
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Very frequent - Epistaxis / nose bleeding - Telangiectasiae of mucosae - Telangiectasiae of the skin Frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Cavernous / tuberous hemangioma - 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 - 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 | Very frequent - Acute leukemia - Asthenia / fatigue / weakness - Bone marrow failure / pancytopenia - Lymphedema - Polynuclear cells / neutrophils anomalies / neutropenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sensorineural deafness / hearing loss - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thrombocytopenia / thrombopenia Frequent - Blood hyperviscosity / hypercoagulability - Bruisability - Chronic / relapsing otitis - Dizziness - Fever / chilling - Hepatomegaly / liver enlargement (excluding storage disease) - Intracranial / cerebral / meningeal hemorrhage - Nausea / vomiting / regurgitation / merycism / hyperemesis - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pallor - Repeat respiratory infections - Splenomegaly - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Hyperleukocytosis / leukocytosis - Lymphadenopathy / polyadenopathies - Myeloproliferative syndrome / chronic leukemia |