FCHL2
MCID: HYP842
MIFTS: 15

Hyperlipidemia, Familial Combined, 2 (FCHL2)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperlipidemia, Familial Combined, 2

MalaCards integrated aliases for Hyperlipidemia, Familial Combined, 2:

Name: Hyperlipidemia, Familial Combined, 2 57
Hyperlipidemia, Combined, 2 57 13
Hyperlipidemia, Combined, 2; Hyplip2 57
Hyplip2 57
Fchl2 57

Classifications:



External Ids:

OMIM 57 604499
MedGen 42 C1858308

Summaries for Hyperlipidemia, Familial Combined, 2

OMIM : 57 Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018). For a phenotypic description and a discussion of genetic heterogeneity of familial combined hyperlipidemia, see 144250. (604499)

MalaCards based summary : Hyperlipidemia, Familial Combined, 2, also known as hyperlipidemia, combined, 2, is related to hypercholesterolemia, familial, 2 and hyperlipidemia, familial combined, 3. An important gene associated with Hyperlipidemia, Familial Combined, 2 is HYPLIP2 (Hyperlipidemia, Combined, 2). Affiliated tissues include liver.

Related Diseases for Hyperlipidemia, Familial Combined, 2

Diseases in the Hyperlipidemia, Familial Combined, 3 family:

Hyperlipidemia, Familial Combined, 1 Hyperlipidemia, Familial Combined, 2

Diseases related to Hyperlipidemia, Familial Combined, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, 2 11.4
2 hyperlipidemia, familial combined, 3 11.3
3 atherosclerosis susceptibility 10.2
4 hypertriglyceridemia, familial 10.2

Symptoms & Phenotypes for Hyperlipidemia, Familial Combined, 2

Clinical features from OMIM:

604499

Drugs & Therapeutics for Hyperlipidemia, Familial Combined, 2

Search Clinical Trials , NIH Clinical Center for Hyperlipidemia, Familial Combined, 2

Genetic Tests for Hyperlipidemia, Familial Combined, 2

Anatomical Context for Hyperlipidemia, Familial Combined, 2

MalaCards organs/tissues related to Hyperlipidemia, Familial Combined, 2:

41
Liver

Publications for Hyperlipidemia, Familial Combined, 2

Articles related to Hyperlipidemia, Familial Combined, 2:

# Title Authors PMID Year
1
FAMILIAL COMBINED HYPERLIPIDEMIA: CURRENT KNOWLEDGE, PERSPECTIVES, AND CONTROVERSIES. 8
30307446 2018
2
A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. 8
10417282 1999
3
The Hyplip2 locus causes hypertriglyceridemia by decreased clearance of triglycerides. 38
17609525 2007
4
Hyplip2, a new gene for combined hyperlipidemia and increased atherosclerosis. 38
15331434 2004

Variations for Hyperlipidemia, Familial Combined, 2

Expression for Hyperlipidemia, Familial Combined, 2

Search GEO for disease gene expression data for Hyperlipidemia, Familial Combined, 2.

Pathways for Hyperlipidemia, Familial Combined, 2

GO Terms for Hyperlipidemia, Familial Combined, 2

Sources for Hyperlipidemia, Familial Combined, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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