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Homozygous familial hypercholesterolemia

3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Abetalipoproteinemia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Homozygous familial hypercholesterolemia

Abetalipoproteinemia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APOB	(0.75)	MTTP

Citations in the biomedical literature:

Homozygous familial hypercholesterolemia		Abetalipoproteinemia
	Synonym(s): - HoFH		Synonym(s): - Bassen-Kornzweig disease - Homozygous familial hypobetalipoproteinemia

	Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare hematologic disease - Rare neurologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D000012

Abetalipoproteinemia
	Very frequent - Autosomal recessive inheritance - Malabsorption / chronic diarrhea / steatorrhea Frequent - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Hypotonia - Movement disorder - Retinitis pigmentosa / retinal pigmentary changes Occasional - Visual loss / blindness / amblyopia
Homozygous familial hypercholesterolemia
(no data available)