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 54

Classifications:



Summaries for Apo a-I Deficiency

MalaCards based summary : Apo a-I Deficiency is related to hypoalphalipoproteinemia, primary and tangier disease. 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. Affiliated tissues include heart and eye.

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

MalaCards organs/tissues related to Apo a-I Deficiency:

42
Heart, Eye

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

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.49 APOA1 LCAT
2 steroid metabolic process GO:0008202 9.48 APOA1 LCAT
3 cholesterol homeostasis GO:0042632 9.46 APOA1 LCAT
4 cholesterol metabolic process GO:0008203 9.43 APOA1 LCAT
5 phospholipid metabolic process GO:0006644 9.4 APOA1 LCAT
6 phosphatidylcholine biosynthetic process GO:0006656 9.37 APOA1 LCAT
7 cholesterol transport GO:0030301 9.32 APOA1 LCAT
8 reverse cholesterol transport GO:0043691 9.26 APOA1 LCAT
9 high-density lipoprotein particle remodeling GO:0034375 9.16 APOA1 LCAT
10 very-low-density lipoprotein particle remodeling GO:0034372 8.96 APOA1 LCAT
11 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
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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