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Alpha-crystallinopathy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary hemorrhagic telangiectasia
5 OMIM references -
4 associated genes
34 signs/symptoms
Alpha-crystallinopathy
Hereditary hemorrhagic telangiectasia

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CRYAB
(0.63)
SMAD4


Citations in the biomedical literature:


Alpha-crystallinopathy
CRYAB
Hereditary hemorrhagic telangiectasia
ACVRL1 ENG GDF2 SMAD4



Alpha-crystallinopathy
Hereditary hemorrhagic telangiectasia

Synonym(s):
- CRYAB-related myofobrillar myopathy
Synonym(s):
- HHT
- Rendu-Osler disease
- Rendu-Osler-Weber disease
Classification (Orphanet):
(no data available)
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):
- Diseases of the nervous system -
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:
1 OMIM reference -
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


Alpha-crystallinopathy

(no data available)