APS1
MCID: ATM002
MIFTS: 33

Autoimmune Polyendocrine Syndrome Type 1 (APS1) malady

Summaries for Autoimmune Polyendocrine Syndrome Type 1

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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). The compounds metyrapone and l-tryptophan have been mentioned in the context of this disorder. Affiliated tissues include thyroid, skin and ovary.

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

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS
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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 type i autoimmune syndrome 21 61
autoimmune polyglandular syndrome type 1 43 22
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
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 43
pga i 21
aps1 21


External Ids:

Disease Ontology8 DOID:0050167

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

Sources:
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 51)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome31.4CASR, AIRE
2hypoparathyroidism30.9AIRE, CASR, NLRP5
3autoimmune thyroiditis30.7CYP21A2, AIRE
4autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia30.4CASR, AIRE, CYP21A2, TPH1
5addison's disease29.9AIRE, CYP21A2, TPH1
6graves' disease29.9CASR, AIRE, CYP21A2
7oral candidiasis10.7
8n syndrome10.6
9squamous cell carcinoma10.6
10oral squamous cell carcinoma10.6
11autoimmune hypoparathyroidism10.6
12thyroiditis10.5
13large granular lymphocyte leukemia10.5
14primary immunodeficiency disease10.5
15thymoma10.3
16thymoma type a10.3
17systemic lupus erythematosus10.3
18west syndrome10.3
19chronic mucocutaneous candidiasis10.3
20whitaker syndrome10.3
21hepatitis e10.3
22rh deficiency syndrome10.3
23juvenile rheumatoid arthritis10.3
24autoimmune hepatitis10.3
25hepatitis d10.3
26hepatitis a10.3
27arthritis10.3
28short syndrome10.3
29growth hormone deficiency10.3
30trabecular fiber myopathy10.3
31short stature10.3
32autoimmune disease 210.1
33autoimmune polyendocrinopathy type 210.0
34candidiasis10.0AIRE
35parathyroid gland disease10.0AIRE
36leukemia10.0IL17A
37hypothyroidism10.0AIRE, CASR
38down syndrome10.0PFKL, AIRE
39schimke immunoosseous dysplasia10.0CYP21A2, AIRE
40hypersensitivity reaction type ii disease10.0CASR, AIRE, CYP21A2, IL17A, TPH1
41omenn syndrome9.9
42autoimmune pancreatitis9.9
43cytokine deficiency9.9
44decr deficiency9.9
45primary pulmonary hypertension9.9
46progressive muscular atrophy9.9
47hepatitis c9.9
48cellulitis9.9
49achalasia9.9
50muscular atrophy9.9

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

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Autoimmune Polyendocrine Syndrome Type 1

Drug clinical trials:

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Search CenterWatch 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
Thyroid, Skin, Ovary

Animal Models for Autoimmune Polyendocrine Syndrome Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Autoimmune Polyendocrine Syndrome Type 1

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51PubMed
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Articles related to Autoimmune Polyendocrine Syndrome Type 1:

idTitleAuthorsYear
1
Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III. (10664529)
2000

Genetic Variations for Autoimmune Polyendocrine Syndrome Type 1

Expression for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

Sources:
1BioGPS, 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

Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
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Compounds related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1metyrapone60 45 1111.7TPH1, CYP21A2
2l-tryptophan45 29 11 2412.7TPH1, CASR
3l-amino acid459.5TPH1, CYP21A2, CASR
4estrogen459.0TPH1, IL17A, CYP21A2, CASR
5tyrosine458.4CASR, AIRE, CYP21A2, IL17A, TPH1

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

Products for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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  • Proteins
  • Lysates
  • Antibodies

Sources for Autoimmune Polyendocrine Syndrome Type 1

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet