MCID: APD001
MIFTS: 15

Apo a-I Deficiency

Categories: Rare diseases

Aliases & Classifications for Apo a-I Deficiency

MalaCards integrated aliases for Apo a-I Deficiency:

Name: Apo a-I Deficiency 49

Classifications:



Summaries for Apo a-I Deficiency

MalaCards based summary : Apo a-I Deficiency is related to tangier disease and familial lcat deficiency. An important gene associated with Apo a-I Deficiency is APOA1 (Apolipoprotein A1), and among its related pathways/superpathways are Lipoprotein metabolism and Statin Pathway.

Related Diseases for Apo a-I Deficiency

Graphical network of the top 20 diseases related to Apo a-I Deficiency:



Diseases related to Apo a-I Deficiency

Symptoms & Phenotypes for Apo a-I Deficiency

Drugs & Therapeutics for Apo a-I Deficiency

Search Clinical Trials , NIH Clinical Center for Apo a-I Deficiency

Genetic Tests for Apo a-I Deficiency

Anatomical Context for Apo a-I Deficiency

Publications for Apo a-I Deficiency

Articles related to Apo a-I Deficiency:

# Title Authors Year
1
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. ( 9514407 )
1998
2
Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. ( 9678768 )
1998

Variations for Apo a-I Deficiency

Expression for Apo a-I Deficiency

Search GEO for disease gene expression data for Apo a-I Deficiency.

Pathways for Apo a-I Deficiency

GO Terms for Apo a-I Deficiency

Cellular components related to Apo a-I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 high-density lipoprotein particle GO:0034364 8.62 APOA1 LCAT

Biological processes related to Apo a-I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.48 APOA1 LCAT
2 steroid metabolic process GO:0008202 9.46 APOA1 LCAT
3 cholesterol metabolic process GO:0008203 9.43 APOA1 LCAT
4 phospholipid metabolic process GO:0006644 9.4 APOA1 LCAT
5 cholesterol homeostasis GO:0042632 9.37 APOA1 LCAT
6 phosphatidylcholine biosynthetic process GO:0006656 9.32 APOA1 LCAT
7 cholesterol transport GO:0030301 9.26 APOA1 LCAT
8 reverse cholesterol transport GO:0043691 9.16 APOA1 LCAT
9 high-density lipoprotein particle remodeling GO:0034375 8.96 APOA1 LCAT
10 lipoprotein biosynthetic process GO:0042158 8.62 APOA1 LCAT

Sources for Apo a-I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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