APS1
MCID: ATM002
MIFTS: 54

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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NIH Rare Diseases:42 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 syndrome type 1, 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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Autoimmune Polyendocrine Syndrome Type 1, Aliases & Descriptions:

Name: Autoimmune Polyendocrine Syndrome Type 1 8 42 10 62
Autoimmune Polyendocrinopathy Syndrome Type 1 42 20 21 62
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 8 42 21
Polyglandular Type I Autoimmune Syndrome 21 62
Polyglandular Autoimmune Syndrome Type 1 42 22
Aire Deficiency 21 62
Apeced 21 44
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 21
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 42
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune 21
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy 62
Polyglandular Autoimmune Syndrome - Type 1 62
 
Autoimmune Polyglandular Syndrome, Type 1 21
Polyglandular Autoimmune Syndrome, Type 1 21
Autoimmune Syndrome Type I, Polyglandular 21
Autoimmune Polyglandular Syndrome Type 1 42
Autoimmune Polyglandular Syndrome I 8
Whitaker Syndrom 8
Aps Type 1 21
Pga I 21
Aps 1 42
Pga 1 42
Aps1 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:0050167

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

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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 78)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome32.1AIRE, CASR
2hypoparathyroidism31.2NLRP5, CASR, AIRE
3autoimmune thyroiditis30.9CYP21A2, AIRE
4autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.5AIRE, TH, CYP21A2, TPH1, CASR
5graves' disease30.3AIRE, CYP21A2, CASR
6addison's disease30.0AIRE, TH, CYP21A2, TPH1
7hepatitis10.5
8keratopathy10.5
9leukemia10.5
10oral candidiasis10.5
11pure red-cell aplasia10.5
12oral squamous cell carcinoma10.5
13herpes simplex10.5
14hypothyroidism10.5
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
23parathyroid gland disease10.5AIRE
24alopecia10.4AIRE
25systemic lupus erythematosus10.3
26chronic mucocutaneous candidiasis10.3
27autoimmune polyendocrine syndrome type 210.3
28neuronitis10.3
29candidiasis10.3
30lupus erythematosus10.3
31vasculitis10.3
32whitaker syndrome10.3
33thymoma10.3
34arthritis10.3
35autoimmune hepatitis10.3
36dilated cardiomyopathy10.3
37rheumatoid arthritis10.3
38juvenile rheumatoid arthritis10.3
39growth hormone deficiency10.3
40short stature10.3
41schimke immunoosseous dysplasia10.3AIRE, CYP21A2
42hyperphenylalaninemia10.2TPH1, TH
43bipolar disorder10.2TH, TPH1
44phenylketonuria10.2TPH1, TH
45hyperaldosteronism10.2TH, CYP21A2
46personality disorder10.1TPH1, TPH2
47sudden infant death syndrome10.1TH, TPH1
48obsessive-compulsive disorder10.1TPH1, TPH2
49attention deficit hyperactivity disorder10.1TPH2
50type 1 diabetes mellitus10.0

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:

32
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:

36
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 24)
idTitleAuthorsYear
1
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
2
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
3
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
4
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
5
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
6
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. (23342054)
2013
7
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
8
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
9
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
10
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
11
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
2012
12
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
13
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
14
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
15
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
16
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
17
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
18
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
19
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
20
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
21
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
22
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
23
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
24
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001

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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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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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)37
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA37
tryptophan degradation37
glutaryl-CoA degradation37
serotonin degradation37
NAD de novo biosynthesis37
superpathway of melatonin degradation37
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde37
tryptophan utilization I37
melatonin degradation I37
9.9TPH1, TPH2
2
Show member pathways
9.9TPH1, TPH2
3
Show member pathways
serotonin and melatonin biosynthesis37
9.9TPH1, TPH2
49.9TPH1, TPH2
5
Show member pathways
catecholamine biosynthesis37
9.8TPH1, TH
6
Show member pathways
Serotonin Transporter Activity37
9.8TH, TPH2
7
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
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/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
16-fluorotryptophan2810.3TPH1, TPH2
2pcpa2810.2TPH1, TPH2
3dmog6110.2TPH2, TPH1
4ro 61-80486110.2TPH2, TPH1
5tetrahydropterin4410.2TPH1, TH
65-hydroxy-l-tryptophan28 2411.2TPH1, TPH2
73-hydroxybenzylhydrazine44 2811.2TPH1, TH
8carbidopa44 2811.2TH, TPH1
9dihydrobiopterin44 2411.2TH, TPH1
10mdma4410.2TPH1, TH
11sepiapterin44 2411.1TH, TPH1
12antidepressants5010.1TPH1, TPH2
135-hydroxytryptophan4410.1TPH1, TH
14fenfluramine44 28 1112.1TPH1, TPH2
15pterin44 2411.1TH, TPH1
16homovanillic acid44 2411.1TPH1, TH
17metyrapone44 61 1112.0TPH1, TPH2, CYP21A2
18l-tryptophan50 28 44 24 1114.0CASR, TPH1, TPH2
19methamphetamine44 50 1111.9TPH1, TH
20fluoxetine44 50 28 1112.9TPH2, TPH1
21alpha-propyldopacetamide289.9TPH1, TPH2, TH
22Sapropterin249.9TH, TPH2, TPH1
234a-hydroxytetrahydrobiopterin44 2410.9TH, TPH2, TPH1
24maoa449.9TH, TPH2, TPH1
25catecholamine449.9TPH1, CYP21A2, TH
26tetrahydrobiopterin44 24 1111.9TH, TPH2, TPH1
27amphetamine44 50 1111.8TH, TPH1
285-hydroxytryptamine449.8TPH1, TPH2, TH
29gaba449.8TH, TPH1, CASR
30norepinephrine44 24 1111.7TPH1, CYP21A2, TH
31l-amino acid449.7TH, CYP21A2, TPH1, CASR
32phenylalanine449.6TH, TPH2, TPH1, CASR
33glutamate449.4TH, CYP21A2, TPH1, CASR
34Water249.4TPH1, TPH2, CYP21A2, TH
35forskolin44 50 1111.3TH, CYP21A2, TPH1, IL17A, CASR
36actinomycin d449.2TH, IL17A, CASR
37oxygen44 2410.1TPH1, TPH2, CYP21A2, TH
38cysteine449.0CASR, CST2, TPH1, TH
39estrogen449.0TH, CYP21A2, TPH2, TPH1, IL17A, CASR
40tyrosine448.7AIRE, 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/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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet