MCID: APD001
MIFTS: 26

Apo a-I Deficiency malady

Summaries for Apo a-I Deficiency

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33MalaCards
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MalaCards: Apo a-I Deficiency is related to tangier disease and lip disease. An important gene associated with Apo a-I Deficiency is APOA1 (apolipoprotein A-I), and among its related pathways are Selenium Pathway and "Ca, cAMP and Lipid Signaling". The compounds iohexol and fructosamine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney.

Aliases & Classifications for Apo a-I Deficiency

Sources:
43NIH Rare Diseases
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Aliases & Descriptions:

apo a-i deficiency 43


Related Diseases for Apo a-I Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Apo a-I Deficiency:



Diseases related to apo a-i deficiency

Clinical Features for Apo a-I Deficiency

Drugs & Therapeutics for Apo a-I Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Apo a-I Deficiency

Anatomical Context for Apo a-I Deficiency

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33MalaCards
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MalaCards organs/tissues related to Apo a-I Deficiency:

33
Liver, Brain, Kidney, Cerebellum, Heart, Colon, Adipocyte, Breast, Prostate, T cells, B cells, Pancreatic islet, Pituitary

Animal Models for Apo a-I Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Apo a-I Deficiency

Sources:
51PubMed
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Articles related to Apo a-I Deficiency:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. (23973892)
2013
2
A Deficiency of Herp, an Endoplasmic Reticulum Stress Protein, Suppresses Atherosclerosis in ApoE Knockout Mice by Attenuating Inflammatory Responses. (24204574)
2013
3
Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis. (24358288)
2013
4
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. (22658148)
2012
5
SENP1 deficiency promotes ER stress-induced apoptosis by increasing XBP1 SUMOylation. (22370484)
2012
6
Autophagy induced by deficiency of sphingosine-1-phosphate phosphohydrolase 1 is switched to apoptosis by calpain-mediated autophagy-related gene 5 (Atg5) cleavage. (22052905)
2011
7
BH3-only activator proteins Bid and Bim are dispensable for Bak/Bax-dependent thrombocyte apoptosis induced by Bcl-xL deficiency: molecular requisites for the mitochondrial pathway to apoptosis in platelets. (21367852)
2011
8
Apoptosis inducing factor deficiency causes reduced mitofusion 1 expression and patterned Purkinje cell degeneration. (20974255)
2011
9
SIRT1 deficiency attenuates MPP+-induced apoptosis in dopaminergic cells. (21130087)
2011
10
Beneficial effects of PTP1B deficiency on brown adipocyte differentiation and protection against apoptosis induced by pro- and anti-inflammatory stimuli. (20026400)
2010
11
Increased atherosclerosis and vascular inflammation in APP transgenic mice with apolipoprotein E deficiency. (19945109)
2010
12
Dietary deficiency in folate and vitamin E under conditions of oxidative stress increases phospho-tau levels: potentiation by ApoE4 and alleviation by S-adenosylmethionine. (19433897)
2009
13
Decorin deficiency in diabetic mice: aggravation of nephropathy due to overexpression of profibrotic factors, enhanced apoptosis and mononuclear cell infiltration. (20083846)
2009
14
Mismatch repair protein deficiency compromises cisplatin-induced apoptotic signaling. (19286655)
2009
15
Dietary deficiency increases presenilin expression, gamma-secretase activity, and Abeta levels: potentiation by ApoE genotype and alleviation by S-adenosyl methionine. (19457069)
2009
16
HDAC2 deficiency sensitizes colon cancer cells to TNFalpha-induced apoptosis through inhibition of NF-kappaB activity. (18314102)
2008
17
Cannabinoid (CB2) receptor deficiency reduces the susceptibility of macrophages to oxidized LDL/oxysterol-induced apoptosis. (18614816)
2008
18
Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing. (18498245)
2008
19
Deficiency in endothelin receptor B reduces proliferation of neuronal progenitors and increases apoptosis in postnatal rat cerebellum. (18683040)
2008
20
Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology. (17805014)
2007
21
Deficiency in glutamine but not glucose induces MYC-dependent apoptosis in human cells. (17606868)
2007
22
5'AMP-activated protein kinase alpha deficiency enhances stress-induced apoptosis in BHK and PC12 cells. (17488477)
2007
23
Cathepsin D deficiency induces persistent neurodegeneration in the absence of Bax-dependent apoptosis. (17314303)
2007
24
Metformin prevents an adaptive increase in GSH and induces apoptosis under the conditions of GSH deficiency in H4IIE cells. (17654257)
2007
25
Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. (16397139)
2006
26
In vitro folate deficiency induces apoptosis by a p53, Fas (Apo-1, CD95) independent, bcl-2 related mechanism in phytohaemagglutinin-stimulated human peripheral blood lymphocytes. (16611376)
2006
27
Apolipoprotein E deficiency increased microglial activation/CCR3 expression and hippocampal damage in kainic acid exposed mice. (16919271)
2006
28
Influence of a leptin deficiency on testicular morphology, germ cell apoptosis, and expression levels of apoptosis-related genes in the mouse. (16304204)
2006
29
Riboflavin deficiency impairs oxidative folding and secretion of apolipoprotein B-100 in HepG2 cells, triggering stress response systems. (15867268)
2005
30
Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production. (15637307)
2005
31
Smad3 deficiency attenuates renal fibrosis, inflammation,and apoptosis after unilateral ureteral obstruction. (15253712)
2004
32
E2F4 deficiency promotes drug-induced apoptosis. (15611646)
2004
33
Effect of Bax deficiency on death receptor 5 and mitochondrial pathways during endoplasmic reticulum calcium pool depletion-induced apoptosis. (12730681)
2003
34
Dexamethasone aggravates hippocampal apoptosis and learning deficiency in pneumococcal meningitis in infant rats. (12788989)
2003
35
Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c. (11827457)
2002
36
Calnexin deficiency and endoplasmic reticulum stress-induced apoptosis. (11851433)
2002
37
Post-transcriptional stimulation of the assembly and secretion of triglyceride-rich apolipoprotein B lipoproteins in a mouse with selective deficiency of brown adipose tissue, obesity, and insulin resistance. (11598138)
2001
38
Deficiency in inducible nitric oxide synthase results in reduced atherosclerosis in apolipoprotein E-deficient mice. (10975863)
2000
39
Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency. (11126401)
2000
40
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. (10229226)
1999
41
Cytokine-mediated Bax deficiency and consequent delayed neutrophil apoptosis: a general mechanism to accumulate effector cells in inflammation. (10557320)
1999
42
A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient. (9126659)
1997
43
Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. (9153204)
1997
44
p53 expression is required for thymocyte apoptosis induced by adenosine deaminase deficiency. (7667298)
1995
45
Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene. (7583546)
1995
46
Deficiency of retinoblastoma protein leads to inappropriate S-phase entry, activation of E2F-responsive genes, and apoptosis. (7777526)
1995
47
Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. (8282791)
1994
48
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)
1993
49
Heterozygous apolipoprotein C-II deficiency: lipoprotein and apoprotein phenotype and RsaI restriction enzyme polymorphism in the Apo C-IIPadova kindred. (7902280)
1993
50
Apolipoprotein C-II deficiency: detection of immunoreactive apolipoprotein C-II in the intestinal mucosa of two patients. (3171393)
1988

Genetic Variations for Apo a-I Deficiency

Expression for genes affiliated with Apo a-I Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Apo a-I Deficiency

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

Pathways for genes affiliated with Apo a-I Deficiency

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 12EMD Millipore
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Compounds for genes affiliated with Apo a-I Deficiency

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience
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Compounds related to Apo a-I Deficiency according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1iohexol459.5APOA1, ALB
2fructosamine45 2410.5ALB, APOA1
3hydrochlorothiazide45 50 29 11 2413.5APOA1, ALB
4enalapril45 50 1111.4ALB, APOA1
5rosuvastatin45 50 29 1112.4APOA1, ALB
625-hydroxyvitamin d459.4ALB, APOA1
7dextran sulfate459.4ALB, APOA1
8vitamin b12459.4APOA1, ALB
9uric acid45 2410.4APOA1, ALB
10polyethylene glycol459.4ALB, APOA1
11homocysteine45 2410.4APOA1, ALB
12thyroxine45 2410.3ALB, APOA1
13tacrolimus45 50 1111.3ALB, APOA1
14vitamin a45 11 2411.3APOA1, ALB
15ascorbic acid45 2410.2ALB, APOA1
16indomethacin45 60 29 1112.2APOA1, ALB
17fibrinogen459.1APOA1, ALB
18aspartate459.1APOA1, ALB
19lactate459.0APOA1, ALB
20creatinine458.8APOA1, ALB

GO Terms for genes affiliated with Apo a-I Deficiency

Sources:
16Gene Ontology
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Biological processes related to Apo a-I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lipoprotein metabolic processGO:0421579.2ALB, APOA1
2response to nutrientGO:0075849.1ALB, APOA1
3blood coagulationGO:0075969.1ALB, APOA1
4platelet degranulationGO:0025769.0APOA1, ALB
5platelet activationGO:0301688.8ALB, APOA1

Molecular functions related to Apo a-I Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:0198999.1ALB, APOA1

Products for genes affiliated with Apo a-I Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Apo a-I Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet