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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Homozygous familial hypercholesterolemia
Hereditary cerebral hemorrhage with amyloidosis, Italian type

APOB APP
LDLR
LDLRAP1
PCSK9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LDLRAP1
(0.67)
APP



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Homozygous familial hypercholesterolemia
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- HoFH

Synonym(s):
- HCHWA, Italian type

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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

Hereditary cerebral hemorrhage with amyloidosis, Italian type

Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Transient cerebral ischemia / stroke

Frequent
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus



Homozygous familial hypercholesterolemia

(no data available)