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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 associated gene
No signs/symptoms info
Homozygous familial hypercholesterolemia
Hyperlipidemia type 3

APOB APOE
LDLR
LDLRAP1
PCSK9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LDLR
APOB
(0.88)
(0.49)
APOE
APOE



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Hyperlipidemia type 3
APOE



Homozygous familial hypercholesterolemia
Hyperlipidemia type 3

Synonym(s):
- HoFH

Synonym(s):
- Broad-betalipoproteinemia
- Dyslipidemia type 3
- Familial dysbetalipoproteinemia
- Familial hyperlipoproteinemia type 3
- HLP type 3
- Hyperlipoproteinemia type 3
- Remnant disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D006952

No signs/symptoms info available.