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5 OMIM references -
4 associated genes
34 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
29 signs/symptoms
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:


Hereditary hemorrhagic telangiectasia
ACVRL1 ENG GDF2 SMAD4
Deafness - lymphedema - leukemia
GATA2



Hereditary hemorrhagic telangiectasia
Deafness - lymphedema - leukemia

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

Synonym(s):
- Emberger syndrome

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 circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin 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 / 1 000 000
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 -
No MeSH references


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

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