APS1
MCID: ATM002
MIFTS: 53

Autoimmune Polyendocrine Syndrome Type 1 (APS1) malady

Genetic diseases, Rare diseases, Immune diseases, Endocrine diseases categories

Summaries for Autoimmune Polyendocrine Syndrome Type 1

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and addison disease. affected individuals typically have at least two of these features, and many have all three. thisĀ syndrome can cause a variety of additional signs and symptoms, although they occur less often. complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. type 1 diabetes also occurs in some patients with this condition. mutations in the aire gene cause autoimmune polyglandular syndrome, type 1. this condition is inherited in an autosomal recessive fashion. last updated: 5/28/2009

MalaCards: Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to autoimmune polyendocrine syndrome and hypoparathyroidism. An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (autoimmune regulator), and among its related pathways are tryptophan utilization II and Tryptophan metabolism. The compounds 6-fluorotryptophan and pcpa have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and skin, and related mouse phenotypes are respiratory system and integument.

Disease Ontology:9 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Wikipedia:66 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Endocrine diseases


Aliases & Descriptions:

autoimmune polyendocrine syndrome type 1 9 44 11
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 9 44 22
autoimmune polyendocrinopathy syndrome type 1 44 21 22
polyglandular autoimmune syndrome type 1 44 23
polyglandular type i autoimmune syndrome 22 63
apeced 22 46
autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy 22
hypoadrenocorticism with hypoparathyroidism and superficial moniliasis 44
polyendocrinopathy-candidiasis-ectodermal-dystrophy, autoimmune 22
autoimmune polyglandular syndrome, type 1 22
autoimmune syndrome type i, polyglandular 22
polyglandular autoimmune syndrome, type 1 22
autoimmune polyglandular syndrome type 1 44
autoimmune polyglandular syndrome i 9
whitaker syndrom 9
aire deficiency 22
aps type 1 22
aps 1 44
pga i 22
pga 1 44
aps1 22


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Disease Ontology9 DOID:0050167

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

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18GeneCards, 19GeneDecks
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Diseases in the Autoimmune Polyendocrine Syndrome Type 1 family:

Autoimmune Polyendocrine Syndrome Type 2 Autoimmune Polyendocrine Syndrome

Diseases related to Autoimmune Polyendocrine Syndrome Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome31.6AIRE, CASR
2hypoparathyroidism31.0NLRP5, CASR, AIRE
3autoimmune thyroiditis30.8CYP21A2, AIRE
4autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.4AIRE, TH, CYP21A2, TPH1, CASR
5graves' disease30.0AIRE, CYP21A2, CASR
6addison's disease30.0AIRE, TH, CYP21A2, TPH1
7pure red-cell aplasia10.5
8oral squamous cell carcinoma10.5
9oral candidiasis10.5
10hepatitis10.5
11herpes simplex10.5
12hypothyroidism10.5
13keratopathy10.5
14leukemia10.5
15long qt syndrome10.5
16myopathy10.5
17panniculitis10.5
18thyroiditis10.5
19large granular lymphocyte leukemia10.5
20hypothyroidism, autoimmune10.5
21primary immunodeficiency disease10.5
22autoimmune hypoparathyroidism10.5
23neuronitis10.3
24chronic mucocutaneous candidiasis10.3
25autoimmune polyendocrine syndrome type 210.3
26systemic lupus erythematosus10.3
27candidiasis10.3
28intestinal disease10.3
29lupus erythematosus10.3
30whitaker syndrome10.3
31thymoma10.3
32juvenile rheumatoid arthritis10.3
33autoimmune hepatitis10.3
34arthritis10.3
35dilated cardiomyopathy10.3
36rheumatoid arthritis10.3
37growth hormone deficiency10.3
38short stature10.3
39parathyroid gland disease10.1AIRE
40alopecia10.1AIRE
41schimke immunoosseous dysplasia10.1AIRE, CYP21A2
42hyperphenylalaninemia10.1TPH1, TH
43bipolar disorder10.1TH, TPH1
44phenylketonuria10.0TPH1, TH
45hyperaldosteronism10.0TH, CYP21A2
46type 1 diabetes mellitus10.0
47autoimmune polyendocrinopathy type 210.0
48personality disorder10.0TPH1, TPH2
49sudden infant death syndrome10.0TH, TPH1
50obsessive-compulsive disorder10.0TPH1, TPH2

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 1:



Diseases related to autoimmune polyendocrine syndrome type 1

Symptoms for Autoimmune Polyendocrine Syndrome Type 1

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Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Autoimmune Polyendocrine Syndrome Type 1

Drug clinical trials:

Search ClinicalTrials for Autoimmune Polyendocrine Syndrome Type 1

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Search CenterWatch for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

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21GeneTests, 23GTR
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Genetic tests related to Autoimmune Polyendocrine Syndrome Type 1:

id Genetic test Affiliating Genes
1 Autoimmune Polyendocrinopathy Syndrome Type 121 AIRE
2 Polyglandular Autoimmune Syndrome, Type 123

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

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34MalaCards
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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

34
Eye, Thyroid, Skin, Ovary, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome Type 1 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8IL17A, TPH1, TPH2, TH, AIRE
2MP:00107718.4CASR, PFKL, TPH1, TPH2, TH
3MP:00053767.5AIRE, TH, TPH2, TPH1, PFKL, IL17A

Publications for Autoimmune Polyendocrine Syndrome Type 1

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53PubMed
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Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 21)
idTitleAuthorsYear
1
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. (23182718)
2013
2
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
3
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. (23342054)
2013
4
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
5
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
6
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
7
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
8
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
2012
9
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
10
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
11
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
12
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
13
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
14
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
15
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
16
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
17
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
18
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
19
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
20
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
21
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. (10470707)
1999

Variations for Autoimmune Polyendocrine Syndrome Type 1

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Autoimmune Polyendocrine Syndrome Type 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1AIRENM_000383.3(AIRE): c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs)deletionLikely pathogenic, Pathogenicrs386833675GRCh37Chr 21, 45711065: 45711077

Expression for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 1.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB
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Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)39
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA39
tryptophan degradation39
glutaryl-CoA degradation39
serotonin degradation39
NAD de novo biosynthesis39
superpathway of melatonin degradation39
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde39
tryptophan utilization I39
melatonin degradation I39
9.9TPH2, TPH1
2
Show member pathways
9.9TPH1, TPH2
3
Show member pathways
serotonin and melatonin biosynthesis39
9.9TPH2, TPH1
49.9TPH1, TPH2
5
Show member pathways
catecholamine biosynthesis39
9.8TH, TPH1
6
Show member pathways
Serotonin Transporter Activity39
9.8TPH2, TH
7
Show member pathways
9.5TPH1, TPH2, TH
89.5TH, TPH2, TPH1
9
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.5TH, TPH2, TPH1
10
Show member pathways
8.4TH, CYP21A2, TPH2, TPH1, PFKL

Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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30IUPHAR, 62Tocris Bioscience, 46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank
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Compounds related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
16-fluorotryptophan3010.3TPH1, TPH2
2pcpa3010.2TPH1, TPH2
3dmog6210.2TPH2, TPH1
4ro 61-80486210.2TPH2, TPH1
5tetrahydropterin4610.2TPH1, TH
65-hydroxy-l-tryptophan30 2511.2TPH1, TPH2
73-hydroxybenzylhydrazine46 3011.2TPH1, TH
8carbidopa46 3011.2TH, TPH1
9dihydrobiopterin46 2511.2TH, TPH1
10mdma4610.2TPH1, TH
11sepiapterin46 2511.1TH, TPH1
12antidepressants5210.1TPH1, TPH2
135-hydroxytryptophan4610.1TPH1, TH
14fenfluramine46 30 1212.1TPH1, TPH2
15pterin46 2511.1TH, TPH1
16homovanillic acid46 2511.1TPH1, TH
17metyrapone46 62 1212.0TPH1, TPH2, CYP21A2
18l-tryptophan52 30 46 25 1214.0CASR, TPH1, TPH2
19methamphetamine46 52 1211.9TPH1, TH
20fluoxetine46 52 30 1212.9TPH2, TPH1
21alpha-propyldopacetamide309.9TPH1, TPH2, TH
22Sapropterin259.9TH, TPH2, TPH1
234a-hydroxytetrahydrobiopterin46 2510.9TH, TPH2, TPH1
24maoa469.9TH, TPH2, TPH1
25catecholamine469.9TPH1, CYP21A2, TH
26tetrahydrobiopterin46 25 1211.9TH, TPH2, TPH1
27amphetamine46 52 1211.8TH, TPH1
285-hydroxytryptamine469.8TPH1, TPH2, TH
29gaba469.8TH, TPH1, CASR
30norepinephrine46 25 1211.7TPH1, CYP21A2, TH
31l-amino acid469.7TH, CYP21A2, TPH1, CASR
32phenylalanine469.6TH, TPH2, TPH1, CASR
33glutamate469.4TH, CYP21A2, TPH1, CASR
34Water259.4TPH1, TPH2, CYP21A2, TH
35forskolin46 52 1211.3TH, CYP21A2, TPH1, IL17A, CASR
36actinomycin d469.2TH, IL17A, CASR
37oxygen46 2510.1TPH1, TPH2, CYP21A2, TH
38cysteine469.0CASR, CST2, TPH1, TH
39estrogen469.0TH, CYP21A2, TPH2, TPH1, IL17A, CASR
40tyrosine468.7AIRE, TH, CYP21A2, TPH2, TPH1, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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17Gene Ontology
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Cellular components related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:0430058.9TSGA10, TPH1, TPH2, TH

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1aromatic amino acid family metabolic processGO:00907210.0TPH1, TPH2
2serotonin biosynthetic processGO:04242710.0TPH1, TPH2
3indolalkylamine biosynthetic processGO:04621910.0TPH1, TPH2
4circadian rhythmGO:0076239.9TPH1, TPH2
5response to nutrient levelsGO:0316679.8TPH2, TH
6response to activityGO:0148239.7TPH2, TH
7cellular nitrogen compound metabolic processGO:0346419.5TH, TPH2, TPH1
8small molecule metabolic processGO:0442818.1TH, CYP21A2, TPH2, TPH1, PFKL

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:0055069.6TPH1, TPH2, CYP21A2
2tryptophan 5-monooxygenase activityGO:0045109.6TPH1, TPH2
3amino acid bindingGO:0165979.4TPH1, TPH2, TH

Products for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Sources for Autoimmune Polyendocrine Syndrome Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet