Cholesterol-ester transfer protein deficiency

MedGen UID:: 840020
•Concept ID:: C3875011
•: Disease or Syndrome

Synonyms:	CEPT deficiency; CETP deficiency; cholesterol ester transfer Protein deficiency; cholesterol-ester transfer protein deficiency; Familial hyperalphalipoproteinemia; familial hyperalphalipoproteinemia; HALP1; Hdlcq10; high density lipoprotein cholesterol level QTL 10; high density lipoprotein cholesterol level quantitative trait locus 10; hyperalphalipoproteinemia 1; hyperalphalipoproteinemia type 1
SNOMED CT:	Familial hyperalphalipoproteinemia (15771000119109)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007744
Orphanet:	ORPHA79506