Hereditary hemorrhagic telangiectasia |
Fibrodysplasia ossificans progressiva |
ACVRL1 | ACVR1 | |||
ENG | ||||
GDF2 | ||||
SMAD4 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
ENG | (0.83) | ACVR1 | |
Citations in the biomedical literature:
Hereditary hemorrhagic telangiectasia |
Fibrodysplasia ossificans progressiva |
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Synonym(s): - HHT- Rendu-Osler disease - Rendu-Osler-Weber disease | Synonym(s): - FOP- Man of stone - Myositis ossificans progressiva | ||
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 - Rare skin disease | ||
Classification (ICD10): - Diseases of the circulatory system -
| Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -
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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 / 1 000 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant | ||
External references: 5 OMIM references -
No MeSH references | External references: 1 OMIM reference - 1 MeSH reference: D009221 | ||
COMMON SIGNS |
- Autosomal dominant inheritance - Seizures / epilepsy / absences / spasms / status epilepticus |
Hereditary hemorrhagic telangiectasia |
Fibrodysplasia ossificans progressiva |
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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 - 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 - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Big toe anomaly (excluding absence) - Muscle ossification - Restricted joint mobility / joint stiffness / ankylosis - Rigid spine - Short big toe - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Clinodactyly of fifth finger - Hearing loss / hypoacusia / deafness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thumb hypoplasia / aplasia / absence Occasional - Anaemia - Failure to thrive / difficulties for feeding in infancy / growth delay - Glaucoma - Hallux valgus - Intellectual deficit / mental / psychomotor retardation / learning disability - Synostosis |