HYPERCHOLESTEROLEMIA, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL
HYPER-LOW-DENSITY-LIPOPROTEINEMIA
HYPERLIPOPROTEINEMIA, TYPE IIA
HYPERLIPOPROTEINEMIA, TYPE II
LDLCQ2, INCLUDED
LDL RECEPTOR DISORDER LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED
FHC
FH
Number of Symptoms 7
OrphanetNr:
OMIM Id: 143890
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001114) Xanthelasma 13 / 7739
2
(HPO:0001084) Corneal arcus 8 / 7739
3
(HPO:0003124) Hypercholesterolemia 53 / 7739
4
(OMIM) Tendinous xanthomas presenting after age 20 years in heterozygotes, during first 4 years of life in homozygotes 1 / 7739
5
(OMIM) Planar xanthomas in homozygotes 2 / 7739
6
(OMIM) Hypercholesterolemia, 350-550 mg/L in heterozygotes, 650-1000 mg/L in homozygotes 1 / 7739
7
(OMIM) Coronary artery disease presenting after age 30 years in heterozygotes, in childhood in homozygotes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL).
Clinical Description OMIM Heterozygotes develop tendinous xanthomas, corneal arcus, and coronary artery disease; the last usually becomes evident in the fourth or fifth decade (Hobbs et al., 1992). Homozygotes develop these features at an accelerated rate in addition to planar xanthomas, ...
Genotype-Phenotype Correlations OMIM Goldstein et al. (1977) found that both receptor-absent and receptor-defective mutants occur and they concluded that some of the 'homozygotes' are in fact genetic compounds. An internalization mutant of the LDL receptor binds LDL but is unable to ...
Molecular genetics OMIM Horsthemke et al. (1987) analyzed DNA from 70 patients in the UK with heterozygous familial hypercholesterolemia. In most, the restriction fragment pattern of the LDLR gene was indistinguishable from the normal; however, 3 patients were found to have ...
Population genetics OMIM In most populations the frequency of the homozygote is 1 in a million (probably a minimal estimate, being a prevalence figure rather than incidence at birth) and the frequency of heterozygotes not less than 1 in 500. Thus, ...