HYPERTRIGLYCERIDEMIA, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 145750
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:0001039) Atheroeruptive xanthoma 9 / 7739
2
(HPO:0004416) Precocious atherosclerosis 12 / 7739
3
(HPO:0002155) Hypertriglyceridemia 67 / 7739
4
(HPO:0001952) Abnormal glucose tolerance 9 / 7739
5
(HPO:0003362) Increased circulating very-low-density lipoprotein cholesterol 9 / 7739
6
(OMIM) Apolipoprotein C-II deficiency 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Plasma cholesterol and phospholipids usually normal 2 / 7739
9
(OMIM) Increased plasma VLDL 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (144600) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution (Goldstein et al., ...
Clinical Description OMIM Namboodiri et al. (1977) studied a large kindred with a high frequency of cardiac illness and with hyperlipidemia. Triglycerides showed 75% of the 'variance accountable by genetic transmission' and cholesterol 52%. Whether the disorder in this kindred should ...
Molecular genetics OMIM In DNA studies that showed that the APOA1 gene (107680) and the APOC3 gene (107720) are in close physical linkage, Karathanasis et al. (1983) also showed that the 2 genes are 'convergently transcribed' and that the polymorphism reported ...