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Homozygous familial hypercholesterolemia
3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial apolipoprotein C-II deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Homozygous familial hypercholesterolemia
Familial apolipoprotein C-II deficiency

APOB
(UniProt - OMIM)
 APOC2
(UniProt - OMIM)
LDLR
(UniProt - OMIM)
LDLRAP1
(UniProt - OMIM)
PCSK9
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
APOB
(0.49)
APOC2


Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Familial apolipoprotein C-II deficiency
APOC2



Homozygous familial hypercholesterolemia
Familial apolipoprotein C-II deficiency

Synonym(s):
- HoFH
Synonym(s):
- Familial apoC-II deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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:
(no data available)
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.