APS1
MCID: ATM002
MIFTS: 53

Autoimmune Polyendocrine Syndrome Type 1 (APS1) malady

Genetic diseases, Rare diseases, Immune diseases, Endocrine diseases categories
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Summaries for Autoimmune Polyendocrine Syndrome Type 1

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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. this 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:8 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.

Genetics Home Reference:21 Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake.

Wikipedia:65 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS
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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 8 43 10
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 8 43 21
autoimmune polyendocrinopathy syndrome type 1 43 20 21
polyglandular autoimmune syndrome type 1 43 22
polyglandular type i autoimmune syndrome 21 62
apeced 21 45
autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy 21
hypoadrenocorticism with hypoparathyroidism and superficial moniliasis 43
polyendocrinopathy-candidiasis-ectodermal-dystrophy, autoimmune 21
autoimmune polyglandular syndrome, type 1 21
autoimmune syndrome type i, polyglandular 21
polyglandular autoimmune syndrome, type 1 21
autoimmune polyglandular syndrome type 1 43
autoimmune polyglandular syndrome i 8
whitaker syndrom 8
aire deficiency 21
aps type 1 21
aps 1 43
pga i 21
pga 1 43
aps1 21


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Disease Ontology8 DOID:0050167

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Autoimmune Polyendocrine Syndrome Type 1

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

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20GeneTests, 22GTR
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Genetic tests related to Autoimmune Polyendocrine Syndrome Type 1:

id Genetic test Affiliating Genes
1 Autoimmune Polyendocrinopathy Syndrome Type 120 AIRE
2 Polyglandular Autoimmune Syndrome, Type 122

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

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33MalaCards
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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

33
Eye, Thyroid, Skin, Ovary, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome Type 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

37
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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52PubMed
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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, 15Gene 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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB
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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)38
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA38
tryptophan degradation38
glutaryl-CoA degradation38
serotonin degradation38
NAD de novo biosynthesis38
superpathway of melatonin degradation38
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde38
tryptophan utilization I38
melatonin degradation I38
9.9TPH2, TPH1
2
Show member pathways
9.9TPH1, TPH2
3
Show member pathways
serotonin and melatonin biosynthesis38
9.9TPH2, TPH1
49.9TPH1, TPH2
5
Show member pathways
catecholamine biosynthesis38
9.8TH, TPH1
6
Show member pathways
Serotonin Transporter Activity38
9.8TPH2, TH
7
Show member pathways
9.5TPH1, TPH2, TH
89.5TH, TPH2, TPH1
9
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
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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29IUPHAR, 61Tocris Bioscience, 45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
16-fluorotryptophan2910.3TPH1, TPH2
2pcpa2910.2TPH1, TPH2
3dmog6110.2TPH2, TPH1
4ro 61-80486110.2TPH2, TPH1
5tetrahydropterin4510.2TPH1, TH
65-hydroxy-l-tryptophan29 2411.2TPH1, TPH2
73-hydroxybenzylhydrazine45 2911.2TPH1, TH
8carbidopa45 2911.2TH, TPH1
9dihydrobiopterin45 2411.2TH, TPH1
10mdma4510.2TPH1, TH
11sepiapterin45 2411.1TH, TPH1
12antidepressants5110.1TPH1, TPH2
135-hydroxytryptophan4510.1TPH1, TH
14fenfluramine45 29 1112.1TPH1, TPH2
15pterin45 2411.1TH, TPH1
16homovanillic acid45 2411.1TPH1, TH
17metyrapone45 61 1112.0TPH1, TPH2, CYP21A2
18l-tryptophan51 29 45 24 1114.0CASR, TPH1, TPH2
19methamphetamine45 51 1111.9TPH1, TH
20fluoxetine45 51 29 1112.9TPH2, TPH1
21alpha-propyldopacetamide299.9TPH1, TPH2, TH
22Sapropterin249.9TH, TPH2, TPH1
234a-hydroxytetrahydrobiopterin45 2410.9TH, TPH2, TPH1
24maoa459.9TH, TPH2, TPH1
25catecholamine459.9TPH1, CYP21A2, TH
26tetrahydrobiopterin45 24 1111.9TH, TPH2, TPH1
27amphetamine45 51 1111.8TH, TPH1
285-hydroxytryptamine459.8TPH1, TPH2, TH
29gaba459.8TH, TPH1, CASR
30norepinephrine45 24 1111.7TPH1, CYP21A2, TH
31l-amino acid459.7TH, CYP21A2, TPH1, CASR
32phenylalanine459.6TH, TPH2, TPH1, CASR
33glutamate459.4TH, CYP21A2, TPH1, CASR
34Water249.4TPH1, TPH2, CYP21A2, TH
35forskolin45 51 1111.3TH, CYP21A2, TPH1, IL17A, CASR
36actinomycin d459.2TH, IL17A, CASR
37oxygen45 2410.1TPH1, TPH2, CYP21A2, TH
38cysteine459.0CASR, CST2, TPH1, TH
39estrogen459.0TH, CYP21A2, TPH2, TPH1, IL17A, CASR
40tyrosine458.7AIRE, TH, CYP21A2, TPH2, TPH1, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet