HYPERLIPIDEMIA, FAMILIAL COMBINED

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL COMBINED HYPERLIPIDEMIA
FCHL
Number of Symptoms 6
OrphanetNr:
OMIM Id: 144250
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 Rare [HPO:probinson] 13 / 7739
2
(HPO:0001658) Myocardial infarction 30 / 7739
3
(HPO:0008356) Combined hyperlipidemia 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Xanthomas are rare 1 / 7739
6
(OMIM) Elevation of VLDL, of LDL, or both 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: