APS1
MCID: ATM002
MIFTS: 39

Autoimmune Polyendocrine Syndrome Type 1 (APS1) malady

Summaries for Autoimmune Polyendocrine Syndrome Type 1

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: 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). The compounds metyrapone and l-tryptophan have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and skin.

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:63 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, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS
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Aliases & Descriptions:

autoimmune polyendocrine syndrome type 1 8 42 10
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 8 42 21
autoimmune polyendocrinopathy syndrome type 1 42 20 21
polyglandular type i autoimmune syndrome 21 60
autoimmune polyglandular syndrome type 1 42 22
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 polyglandular syndrome, type 1 21
polyglandular autoimmune syndrome, type 1 21
autoimmune syndrome type i, polyglandular 21
autoimmune polyglandular syndrome i 8
whitaker syndrom 8
aire deficiency 21
aps type 1 21
aps 1 42
pga i 21
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 62)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome31.4CASR, AIRE
2hypoparathyroidism30.9AIRE, CASR, NLRP5
3leukemia30.6IL17A
4hypothyroidism30.6AIRE, CASR
5autoimmune thyroiditis30.6CYP21A2, AIRE
6candidiasis30.4AIRE
7autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.4CASR, AIRE, CYP21A2, TPH1
8addison's disease29.8AIRE, CYP21A2, TPH1
9graves' disease29.8CASR, AIRE, CYP21A2
10oral candidiasis10.7
11squamous cell carcinoma10.6
12pure red-cell aplasia10.4
13autoimmune hepatitis10.4
14hepatitis10.4
15herpes simplex10.4
16keratopathy10.4
17long qt syndrome10.4
18myopathy10.4
19panniculitis10.4
20thyroiditis10.4
21thymoma10.3
22autoimmune polyendocrine syndrome type 210.3
23systemic lupus erythematosus10.3
24neuronitis10.3
25chronic mucocutaneous candidiasis10.3
26intestinal disease10.3
27lupus erythematosus10.3
28whitaker syndrome10.3
29juvenile rheumatoid arthritis10.3
30arthritis10.3
31dilated cardiomyopathy10.3
32rheumatoid arthritis10.3
33t cell deficiency10.2
34chromosomal disease10.1
35parathyroid gland disease10.0AIRE
36type 1 diabetes mellitus10.0
37autoimmune polyendocrinopathy type 210.0
38down syndrome10.0PFKL, AIRE
39schimke immunoosseous dysplasia10.0CYP21A2, AIRE
40hypersensitivity reaction type ii disease10.0CASR, AIRE, CYP21A2, IL17A, TPH1
41omenn syndrome9.9
42b cell deficiency9.9
43keratoconjunctivitis9.9
44lymphopenia9.9
45marginal zone b-cell lymphoma9.9
46myasthenia gravis9.9
47neuropathy9.9
48pancreatitis9.9
49peripheral neuropathy9.9
50primary pulmonary hypertension9.9

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



Diseases related to autoimmune polyendocrine syndrome type 1

Clinical Features for Autoimmune Polyendocrine Syndrome Type 1

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Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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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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Publications for Autoimmune Polyendocrine Syndrome Type 1

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50PubMed
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Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 24)
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
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
14
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
15
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
16
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
17
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
18
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
19
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
20
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
21
Distinct idiotypes of insulin autoantibody in autoimmune polyendocrine syndrome type 2 and childhood onset type 1 diabetes. (15472233)
2004
22
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
23
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. (10470707)
1999
24
Association between antibodies to the MR 67,000 isoform of glutamate decarboxylase (GAD) and type 1 (insulin-dependent) diabetes mellitus with coexisting autoimmune polyendocrine syndrome type II. (7578849)
1994

Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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59Tocris Bioscience, 44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1metyrapone59 44 1111.7TPH1, CYP21A2
2l-tryptophan44 28 11 2412.7TPH1, CASR
3l-amino acid449.5TPH1, CYP21A2, CASR
4estrogen449.0TPH1, IL17A, CYP21A2, CASR
5tyrosine448.4CASR, AIRE, CYP21A2, IL17A, TPH1

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet