ODCs

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Hereditary hemorrhagic telangiectasia

5 OMIM references -
4 associated genes
34 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

Camurati-Engelmann disease

1 OMIM reference -
1 associated gene
49 signs/symptoms

Hereditary hemorrhagic telangiectasia

Camurati-Engelmann disease

ACVRL1	(UniProt - OMIM)	TGFB1	(UniProt - OMIM)
ENG	(UniProt - OMIM)
GDF2	(UniProt - OMIM)
SMAD4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ACVRL1 ENG	(0.88) (0.85)	TGFB1 TGFB1

Citations in the biomedical literature:

Hereditary hemorrhagic telangiectasia		Camurati-Engelmann disease
	Synonym(s): - HHT - Rendu-Osler disease - Rendu-Osler-Weber disease		Synonym(s): - Progressive diaphyseal dysplasia

	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: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D003966


COMMON SIGNS	- Autosomal dominant inheritance

Hereditary hemorrhagic telangiectasia		Camurati-Engelmann disease
	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		Very frequent - Anomalies of spine, vertebrae and pelvis - Bone pain - Cortical anomaly / thick bone cortical layer - Diaphyseal anomaly - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Hyperostosis - Osteosclerosis / osteopetrosis / bone condensation - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Skull / cranial anomalies - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Frequent - Abnormal gait - Metaphyseal anomaly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Restricted joint mobility / joint stiffness / ankylosis Occasional - Abnormal fat distribution / lipodystrophy - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anaemia - Anorexia - Ataxia / incoordination / trouble of the equilibrium - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Bladder and ureter anomalies - Cardiomyopathy / hypertrophic / dilated - Delayed dentition / eruption of teeth / lack of eruption of teeth - Facial dysmorphism - Facial palsy - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Flat foot - Frontal bossing / prominent forehead - Genu valgum - Glaucoma - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Leukopenia / hypoleukocytosis - Lordosis - Marfanoid morphotype - Multiple caries - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Proptosis / exophthalmos - Scoliosis - Sensitive trouble / deficit - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Splenomegaly