MCID: APD001
MIFTS: 17

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 20

Classifications:



Summaries for Apo a-I Deficiency

MalaCards based summary : Apo a-I Deficiency is related to lecithin:cholesterol acyltransferase deficiency and hypoalphalipoproteinemia, primary, 2. 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 eye, kidney and heart.

Related Diseases for Apo a-I Deficiency

Diseases related to Apo a-I Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 lecithin:cholesterol acyltransferase deficiency 29.7 LCAT APOA1
2 hypoalphalipoproteinemia, primary, 2 10.0
3 familial lcat deficiency 9.9 LCAT APOA1
4 amyloidosis aa 9.8 LCAT APOA1
5 hypoalphalipoproteinemia 9.8 LCAT APOA1
6 arcus corneae 9.8 LCAT APOA1
7 fish-eye disease 9.8 LCAT APOA1
8 eye disease 9.8 LCAT APOA1
9 fetal macrosomia 9.8 LCAT APOA1
10 huntington disease-like 1 9.8 LCAT APOA1
11 hypolipoproteinemia 9.8 LCAT APOA1
12 coronary heart disease 1 9.8 LCAT APOA1
13 hypobetalipoproteinemia, familial, 1 9.8 LCAT APOA1
14 hyperalphalipoproteinemia 1 9.8 LCAT APOA1
15 hyperlipoproteinemia, type i 9.8 LCAT APOA1
16 abetalipoproteinemia 9.8 LCAT APOA1
17 alagille syndrome 1 9.8 LCAT APOA1
18 sitosterolemia 9.8 LCAT APOA1
19 hyperlipidemia, familial combined, 3 9.8 LCAT APOA1
20 tangier disease 9.8 LCAT APOA1
21 familial hyperlipidemia 9.8 LCAT APOA1
22 peripheral vascular disease 9.8 LCAT APOA1
23 vascular disease 9.8 LCAT APOA1
24 hypercholesterolemia, familial, 1 9.8 LCAT APOA1
25 lipid metabolism disorder 9.7 LCAT APOA1
26 atherosclerosis susceptibility 9.7 LCAT APOA1
27 familial hypercholesterolemia 9.7 LCAT APOA1
28 cardiovascular system disease 9.7 LCAT APOA1
29 nephrotic syndrome 9.7 LCAT APOA1
30 chronic kidney disease 9.6 LCAT APOA1
31 kidney disease 9.6 LCAT APOA1
32 lipoprotein quantitative trait locus 9.5 LCAT APOA1

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:

40
Eye, Kidney, Heart

Publications for Apo a-I Deficiency

Articles related to Apo a-I Deficiency:

(show all 17)
# Title Authors PMID Year
1
Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report. 61
28178939 2017
2
Diagnosis and treatment of high density lipoprotein deficiency. 61
27565770 2016
3
AAV gene therapy as a means to increase apolipoprotein (Apo) A-I and high-density lipoprotein-cholesterol levels: correction of murine ApoA-I deficiency. 61
19431216 2009
4
Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain. 61
15269218 2004
5
Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD. 61
11996960 2002
6
Structural and functional properties of apolipoprotein A-I mutants. 61
11426584 2000
7
[Familial apolipoprotein A-I variants]. 61
10638215 1999
8
High density lipoproteins and reverse cholesterol transport: lessons from mutations. 61
9694535 1998
9
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. 61
9514407 1998
10
[Apo A-I deficiency]. 61
9644995 1998
11
Delayed loss of cholesterol from a localized lipoprotein depot in apolipoprotein A-I-deficient mice. 61
9275209 1997
12
Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. 61
8840853 1996
13
Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production. 61
8647961 1996
14
Apolipoprotein A-I deficiency. Biochemical and metabolic characteristics. 61
7489237 1995
15
[Arcus juvenilis and lecithin:cholesterol acyltransferase functions. Report of a case of familial fish-eye-disease]. 61
8221181 1993
16
Genes and dyslipoproteinaemias. 61
2073914 1990
17
Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. 61
2512329 1989

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 LCAT APOA1

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 LCAT APOA1
2 steroid metabolic process GO:0008202 9.49 LCAT APOA1
3 cholesterol metabolic process GO:0008203 9.48 LCAT APOA1
4 cholesterol homeostasis GO:0042632 9.46 LCAT APOA1
5 phospholipid metabolic process GO:0006644 9.43 LCAT APOA1
6 phosphatidylcholine biosynthetic process GO:0006656 9.4 LCAT APOA1
7 cholesterol transport GO:0030301 9.37 LCAT APOA1
8 phosphatidylcholine metabolic process GO:0046470 9.32 LCAT APOA1
9 reverse cholesterol transport GO:0043691 9.26 LCAT APOA1
10 high-density lipoprotein particle remodeling GO:0034375 9.16 LCAT APOA1
11 very-low-density lipoprotein particle remodeling GO:0034372 8.96 LCAT APOA1
12 lipoprotein biosynthetic process GO:0042158 8.62 LCAT APOA1

Sources for Apo a-I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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