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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
34 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Hereditary hemorrhagic telangiectasia

CACNG2 ACVRL1
CDH15 ENG
CTNNB1 GDF2
DOCK8 SMAD4
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.73)
SMAD4



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Hereditary hemorrhagic telangiectasia
ACVRL1 ENG GDF2 SMAD4



Autosomal dominant nonsyndromic intellectual deficit
Hereditary hemorrhagic telangiectasia

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
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):
(no data available)
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
13 OMIM references -
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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)