HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B

General Information (adopted from Orphanet):

Synonyms, Signs: APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE
HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B
Number of Symptoms 8
OrphanetNr:
OMIM Id: 144010
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:0000991) Xanthomatosis 16 / 7739
4
(HPO:0001677) Coronary artery disease 58 / 7739
5
(HPO:0003124) Hypercholesterolemia 53 / 7739
6
(OMIM) Abnormal LDL 1 / 7739
7
(OMIM) Planar xanthomas in homozygotes 2 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Higgins et al. (1975) described father and daughter with hypercholesterolemia which appeared to be due to an abnormality in LDL such that it did not interact properly with the receptor. The proband's leukocytes showed normal suppression of HMG ...
Molecular genetics OMIM Goldstein and Brown (1974) showed that the classic form of familial hypercholesterolemia (143890) results from defects in the cell surface receptor that removes LDL particles from plasma (LDLR; 606945). Innerarity et al. (1987) demonstrated the genetic heterogeneity of ...