MCID: ATM002
MIFTS: 46

Autoimmune Polyendocrine Syndrome Type 1 malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

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Autoimmune Polyendocrine Syndrome Type 1, Aliases & Descriptions:

Name: Autoimmune Polyendocrine Syndrome Type 1 9 41 11
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 9 41 21
Autoimmune Polyendocrinopathy Syndrome Type 1 41 21
Polyglandular Autoimmune Syndrome, Type 1 21 22
Polyglandular Type I Autoimmune Syndrome 21 60
Apeced 21 43
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 21
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 41
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune 21
Autoimmune Polyglandular Syndrome, Type 1 21
Autoimmune Syndrome Type I, Polyglandular 21
 
Polyglandular Autoimmune Syndrome Type 1 41
Autoimmune Polyglandular Syndrome Type 1 41
Autoimmune Polyendocrinopathy Type 1 20
Autoimmune Polyglandular Syndrome I 9
Whitaker Syndrom 9
Aire Deficiency 21
Aps Type 1 21
Pga I 21
Aps 1 41
Pga 1 41
Aps1 21


Classifications:

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


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Disease Ontology9 DOID:0050167

Summaries for Autoimmune Polyendocrine Syndrome Type 1

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NIH Rare Diseases:41 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 based summary: 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.

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.

CDC:3 Outdoor air quality has improved since the 1990s, but many challenges remain in protecting Americans from air quality problems. Ground-level ozone, the main part of smog, and particle pollution are just two of the many threats to air quality and public health in the United States.

Wikipedia:63 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

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Diseases in the Autoimmune Polyendocrine Syndrome family:

autoimmune polyendocrine syndrome type 1 Autoimmune Polyendocrine Syndrome Type 2

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome32.1AIRE, CASR
2hypoparathyroidism31.2NLRP5, CASR, AIRE
3graves' disease30.3AIRE, CYP21A2, CASR
4addison's disease30.0AIRE, TH, CYP21A2, TPH1
5keratopathy10.5
6leukemia10.5
7autoimmune thyroiditis10.5
8pure red-cell aplasia10.5
9oral squamous cell carcinoma10.5
10oral candidiasis10.5
11herpes simplex10.5
12hypothyroidism10.5
13long qt syndrome10.5
14myopathy10.5
15panniculitis10.5
16thyroiditis10.5
17large granular lymphocyte leukemia10.5
18primary immunodeficiency disease10.5
19androgen insensitivity, partial, with or without breast cancer10.5
20parathyroid gland disease10.5AIRE
21alopecia10.4AIRE
22whitaker syndrome10.4
23systemic lupus erythematosus10.3
24autoimmune hepatitis10.3
25hepatitis10.3
26neuronitis10.3
27chronic mucocutaneous candidiasis10.3
28autoimmune polyendocrine syndrome type 210.3
29candidiasis10.3
30intestinal disease10.3
31lupus erythematosus10.3
32vasculitis10.3
33thymoma10.3
34rheumatoid arthritis10.3
35arthritis10.3
36dilated cardiomyopathy10.3
37juvenile rheumatoid arthritis10.3
38growth hormone deficiency10.3
39autosomal recessive disease10.3AIRE, CYP21A2
40hyperphenylalaninemia10.2TPH1, TH
41neurotic disorder10.2TH, TPH1
42phenylketonuria10.2TPH1, TH
43hyperaldosteronism10.2TH, CYP21A2
44ipex syndrome10.1
45personality disorder10.1TPH1, TPH2
46sudden infant death syndrome10.1TH, TPH1
47hashimoto thyroiditis10.1CYP21A2, AIRE
48obsessive-compulsive disorder10.1TPH1, TPH2
49attention deficit-hyperactivity disorder10.1TPH2
50panic 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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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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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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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

31
Eye, Thyroid, Skin, Ovary, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

35
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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Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 26)
idTitleAuthorsYear
1
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. (25475693)
2015
2
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
3
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
4
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
5
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
6
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
7
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. (23342054)
2013
8
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
9
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
10
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
11
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
12
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
2012
13
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
14
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
15
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
16
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
17
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
18
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
19
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
20
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
21
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
22
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
23
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
24
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
25
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
26
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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Expression for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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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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Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)36
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA36
tryptophan degradation36
glutaryl-CoA degradation36
serotonin degradation36
NAD de novo biosynthesis36
superpathway of melatonin degradation36
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde36
tryptophan utilization I36
melatonin degradation I36
9.9TPH1, TPH2
2
Show member pathways
9.9TPH1, TPH2
3
Show member pathways
serotonin and melatonin biosynthesis36
9.9TPH1, TPH2
49.9TPH1, TPH2
5
Show member pathways
catecholamine biosynthesis36
9.8TPH1, TH
6
Show member pathways
Serotonin Transporter Activity36
9.8TH, TPH2
7
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.5TPH1, TPH2, TH
8
Show member pathways
9.5TH, TPH2, TPH1
99.5TH, TPH2, TPH1
10
Show member pathways
8.4PFKL, TPH1, TPH2, CYP21A2, TH

Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Compounds related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 40)
idCompoundScoreTop Affiliating Genes
16-fluorotryptophan2810.3TPH1, TPH2
2pcpa2810.2TPH1, TPH2
3dmog5910.2TPH2, TPH1
4ro 61-80485910.2TPH2, TPH1
5tetrahydropterin4310.2TPH1, TH
65-hydroxy-l-tryptophan28 2411.2TPH1, TPH2
73-hydroxybenzylhydrazine43 2811.2TPH1, TH
8carbidopa43 2811.2TH, TPH1
9dihydrobiopterin43 2411.2TH, TPH1
10mdma4310.2TPH1, TH
11sepiapterin43 2411.1TH, TPH1
12antidepressants4910.1TPH1, TPH2
135-hydroxytryptophan4310.1TPH1, TH
14fenfluramine43 28 1212.1TPH1, TPH2
15pterin43 2411.1TH, TPH1
16homovanillic acid43 2411.1TPH1, TH
17metyrapone43 59 1212.0TPH1, TPH2, CYP21A2
18l-tryptophan49 28 43 24 1214.0CASR, TPH1, TPH2
19methamphetamine43 49 1211.9TPH1, TH
20fluoxetine43 49 28 1212.9TPH2, TPH1
21alpha-propyldopacetamide289.9TPH1, TPH2, TH
22Sapropterin249.9TH, TPH2, TPH1
234a-hydroxytetrahydrobiopterin43 2410.9TH, TPH2, TPH1
24maoa439.9TH, TPH2, TPH1
25catecholamine439.9TPH1, CYP21A2, TH
26tetrahydrobiopterin43 24 1211.9TH, TPH2, TPH1
27amphetamine43 49 1211.8TH, TPH1
285-hydroxytryptamine439.8TPH1, TPH2, TH
29gaba439.8TH, TPH1, CASR
30norepinephrine43 24 1211.7TPH1, CYP21A2, TH
31l-amino acid439.7TH, CYP21A2, TPH1, CASR
32phenylalanine439.6TH, TPH2, TPH1, CASR
33glutamate439.4TH, CYP21A2, TPH1, CASR
34Water249.4TPH1, TPH2, CYP21A2, TH
35forskolin43 49 1211.3TH, CYP21A2, TPH1, IL17A, CASR
36actinomycin d439.2TH, IL17A, CASR
37oxygen43 2410.1TPH1, TPH2, CYP21A2, TH
38cysteine439.0CASR, CST2, TPH1, TH
39estrogen439.0TH, CYP21A2, TPH2, TPH1, IL17A, CASR
40tyrosine438.7AIRE, TH, CYP21A2, TPH2, TPH1, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Cellular components related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430058.9TSGA10, TPH1, TPH2, TH

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1aromatic amino acid family metabolic processGO:000907210.0TPH1, TPH2
2serotonin biosynthetic processGO:004242710.0TPH1, TPH2
3indolalkylamine biosynthetic processGO:004621910.0TPH1, TPH2
4circadian rhythmGO:00076239.9TPH1, TPH2
5response to nutrient levelsGO:00316679.8TPH2, TH
6response to activityGO:00148239.7TPH2, TH
7cellular nitrogen compound metabolic processGO:00346419.5TH, TPH2, TPH1
8small molecule metabolic processGO:00442818.1TH, CYP21A2, TPH2, TPH1, PFKL

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.6TPH1, TPH2, CYP21A2
2tryptophan 5-monooxygenase activityGO:00045109.6TPH1, TPH2
3amino acid bindingGO:00165979.4TPH1, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet