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Hereditary persistence of fetal hemoglobin - sickle cell disease
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
1 OMIM reference -
1 associated gene
13 signs/symptoms
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

HBB
(UniProt - OMIM)
 APP
(UniProt - OMIM)
HBG1
(UniProt - OMIM)
HBG2
(UniProt - OMIM)
KLF1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Hereditary persistence of fetal hemoglobin - sickle cell disease
HBB HBG1 HBG2 KLF1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Hereditary persistence of fetal hemoglobin - sickle cell disease
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- HPFH - sickle cell disease
Synonym(s):
- HCHWA, Piedmont type
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality


Hereditary persistence of fetal hemoglobin - sickle cell disease

(no data available)