HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3

General Information (adopted from Orphanet):

Synonyms, Signs: FH3 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED
HCHOLA3
LDLCQ1, INCLUDED
Number of Symptoms 2
OrphanetNr:
OMIM Id: 603776
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:0003124) Hypercholesterolemia obligate [HPO:skoehler] 53 / 7739
2
(HPO:0000006) Autosomal dominant inheritance obligate [HPO:skoehler] 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Abifadel et al. (2003) carried out positional cloning using the family in which linkage was originally identified (Varret et al., 1999) and 23 French families in whom involvement of LDLR and APOB had been excluded as the site ...