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 53

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
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
2
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 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.51 APOA1 LCAT
2 steroid metabolic process GO:0008202 9.49 APOA1 LCAT
3 cholesterol metabolic process GO:0008203 9.48 APOA1 LCAT
4 cholesterol homeostasis GO:0042632 9.46 APOA1 LCAT
5 phospholipid metabolic process GO:0006644 9.43 APOA1 LCAT
6 phosphatidylcholine biosynthetic process GO:0006656 9.4 APOA1 LCAT
7 cholesterol transport GO:0030301 9.37 APOA1 LCAT
8 reverse cholesterol transport GO:0043691 9.32 APOA1 LCAT
9 high-density lipoprotein particle remodeling GO:0034375 9.26 APOA1 LCAT
10 phosphatidylcholine metabolic process GO:0046470 9.16 APOA1 LCAT
11 very-low-density lipoprotein particle remodeling GO:0034372 8.96 APOA1 LCAT
12 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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