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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 3
5 OMIM references -
5 associated genes
6 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary persistence of fetal hemoglobin - beta-thalassemia

APP BCL11A
HBB
HBG1
HBG2
KLF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
APP
APP
(0.56)
(0.56)
(0.56)
BCL11A
HBG1
HBG2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Hereditary persistence of fetal hemoglobin - beta-thalassemia
BCL11A HBB HBG1 HBG2 KLF1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary persistence of fetal hemoglobin - beta-thalassemia

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- HPFH - beta-thalassemia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary persistence of fetal hemoglobin - beta-thalassemia

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Pallor
- Splenomegaly

Frequent
- Anomalies of bones / skeletal anomalies
- Hepatomegaly / liver enlargement (excluding storage disease)