MCID: OBS084
MIFTS: 4

Obsolete: Hyperlipoproteinemia Type 5

Categories: Rare diseases

Aliases & Classifications for Obsolete: Hyperlipoproteinemia Type 5

MalaCards integrated aliases for Obsolete: Hyperlipoproteinemia Type 5:

Name: Obsolete: Hyperlipoproteinemia Type 5 60
Major Hyperlipidemia 60
Hlp Type 5 60

Characteristics:

Orphanet epidemiological data:

60
obsolete: hyperlipoproteinemia type 5
Inheritance: Multigenic/multifactorial;

Classifications:



External Ids:

Orphanet 60 ORPHA70470

Summaries for Obsolete: Hyperlipoproteinemia Type 5

MalaCards based summary : Obsolete: Hyperlipoproteinemia Type 5, is also known as major hyperlipidemia. An important gene associated with Obsolete: Hyperlipoproteinemia Type 5 is APOA5 (Apolipoprotein A5).

Related Diseases for Obsolete: Hyperlipoproteinemia Type 5

Symptoms & Phenotypes for Obsolete: Hyperlipoproteinemia Type 5

Drugs & Therapeutics for Obsolete: Hyperlipoproteinemia Type 5

Search Clinical Trials , NIH Clinical Center for Obsolete: Hyperlipoproteinemia Type 5

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Anatomical Context for Obsolete: Hyperlipoproteinemia Type 5

Publications for Obsolete: Hyperlipoproteinemia Type 5

Variations for Obsolete: Hyperlipoproteinemia Type 5

ClinVar genetic disease variations for Obsolete: Hyperlipoproteinemia Type 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOA5 NM_052968.4(APOA5): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs121917821 GRCh37 Chromosome 11, 116661530: 116661530
2 APOA5 NM_052968.4(APOA5): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs121917821 GRCh38 Chromosome 11, 116790814: 116790814

Expression for Obsolete: Hyperlipoproteinemia Type 5

Search GEO for disease gene expression data for Obsolete: Hyperlipoproteinemia Type 5.

Pathways for Obsolete: Hyperlipoproteinemia Type 5

GO Terms for Obsolete: Hyperlipoproteinemia Type 5

Sources for Obsolete: Hyperlipoproteinemia Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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