HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: FHCB2, FORMERLY
ARH2, FORMERLY
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY
ARH1, FORMERLY
FHCB1, FORMERLY
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY
ARH
Number of Symptoms 5
OrphanetNr:
OMIM Id: 603813
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010874) Tendon xanthomatosis 3 / 7739
2
(HPO:0002621) Atherosclerosis 33 / 7739
3
(HPO:0003362) Increased circulating very-low-density lipoprotein cholesterol 9 / 7739
4
(HPO:0003124) Hypercholesterolemia obligate [HPO:skoehler] 53 / 7739
5
(HPO:0000007) Autosomal recessive inheritance obligate [HPO:skoehler] 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zuliani et al. (1995) described a Sardinian family in which the probands had a severe form of hypercholesterolemia with the clinical features of familial hypercholesterolemia (FH; 143890) homozygotes, including severely elevated plasma low density lipoprotein (LDL) cholesterol, tuberous ...
Molecular genetics OMIM Analysis of the gene defect in large cohorts of patients with a diagnosis of heterozygous FH provided evidence that inherited defects in genes other than those encoding LDLR and APOB can cause the hypercholesterolemia typical of FH. In ...