APS3
MCID: ATM061
MIFTS: 30

Autoimmune Polyglandular Syndrome Type 3 (APS3) malady

Rare diseases category
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Summaries for Autoimmune Polyglandular Syndrome Type 3

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Autoimmune polyglandular syndrome (aps) type 3 is an autoimmune condition that affects the body's endocrine glands. the syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. this condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease. the other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, and sjogren's syndrome. the adrenal cortex (the outer layer of the adrenal gland) is not involved. there are three types of autoimmune polyglandular syndrome type 3:  aps3a - autoimmune thyroiditis with immune-mediated diabetes mellitus (imdm) aps3b - autoimmune thyroiditis with pernicious anemia aps3c - autoimmune thyroiditis with vitiligo and/or alopecia and/or other organ-specific autoimmune disease last updated: 1/15/2013

MalaCards: Autoimmune Polyglandular Syndrome Type 3, also known as polyglandular type iii autoimmune syndrome, is related to hypothyroidism and growth hormone deficiency. An important gene associated with Autoimmune Polyglandular Syndrome Type 3 is CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), and among its related pathways are Biological oxidations and Corticotropin-releasing hormone. The compounds biotin and agarose have been mentioned in the context of this disorder. Affiliated tissues include thyroid, cortex and adrenal gland.

Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 3

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43NIH Rare Diseases, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

autoimmune polyglandular syndrome type 3 43
polyglandular type iii autoimmune syndrome 62
autoimmune polyendocrine syndrome type 3 43
polyglandular autoimmune syndrome type 3 43
pas3 43
aps3 43


Related Diseases for Autoimmune Polyglandular Syndrome Type 3

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17GeneCards, 18GeneDecks
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Diseases in the Autoimmune Polyglandular Syndrome Type 2 family:

autoimmune polyglandular syndrome type 3

Diseases related to Autoimmune Polyglandular Syndrome Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism30.7POMC, VWF
2growth hormone deficiency10.5
3ulcerative colitis10.3
4von willebrand's disease10.3
5alopecia universalis10.3
6alopecia10.3
7myasthenia gravis10.3
8thyroiditis10.3
9autoimmune polyendocrinopathy type 310.3
10antley-bixler syndrome10.1CYP21A2
11neuronitis10.1
12schizophrenia10.1
13acute adrenal insufficiency10.0POMC, CYP21A2
14conn's syndrome10.0CYP21A2, POMC
15hyperaldosteronism10.0CYP21A2, POMC
16factor v leiden thrombophilia10.0CYP21A2, VWF
17adrenal gland hyperfunction10.0POMC, CYP21A2
18prion disease10.0VWF, POMC
19precocious puberty10.0CYP21A2, POMC
20primary hyperoxaluria10.0POMC, VWF
21hypopituitarism10.0POMC, CYP21A2
22congenital adrenal hyperplasia10.0CYP21A2, POMC
23leydig cell tumor10.0POMC, CYP21A2
24addison's disease10.0CYP21A2, POMC
25hyperandrogenism10.0CYP21A2, POMC
26hypersensitivity reaction type ii disease10.0VWF, POMC
27type 2 diabetes mellitus10.0VWF, CYP21A2
28adrenocortical carcinoma10.0CYP21A2, POMC
29adrenal adenoma10.0CYP21A2, POMC
30cushing's syndrome10.0CYP21A2, POMC
31congenital heart disease10.0VWF, POMC
32polycystic ovary syndrome10.0POMC, CYP21A2
33insulin resistance10.0VWF, CYP21A2
34metabolic syndrome x10.0CYP21A2, POMC
35obesity10.0CYP21A2, POMC
36diabetes mellitus9.9POMC, VWF

Graphical network of the top 20 diseases related to Autoimmune Polyglandular Syndrome Type 3:



Diseases related to autoimmune polyglandular syndrome type 3

Symptoms for Autoimmune Polyglandular Syndrome Type 3

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Drugs & Therapeutics for Autoimmune Polyglandular Syndrome Type 3

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Autoimmune Polyglandular Syndrome Type 3

Search NIH Clinical Center for Autoimmune Polyglandular Syndrome Type 3

Genetic Tests for Autoimmune Polyglandular Syndrome Type 3

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Anatomical Context for Autoimmune Polyglandular Syndrome Type 3

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33MalaCards
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MalaCards organs/tissues related to Autoimmune Polyglandular Syndrome Type 3:

33
Thyroid, Cortex, Adrenal gland, Adrenal cortex

Animal Models for Autoimmune Polyglandular Syndrome Type 3 or affiliated genes

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Publications for Autoimmune Polyglandular Syndrome Type 3

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52PubMed
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Articles related to Autoimmune Polyglandular Syndrome Type 3:

(show all 11)
idTitleAuthorsYear
1
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. (22466347)
2012
2
Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. (22635089)
2012
3
Autoimmune polyglandular syndrome type 3 with anorexia. (23304573)
2012
4
Genetics of the autoimmune polyglandular syndrome type 3 variant. (20578896)
2010
5
Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. (19968812)
2010
6
Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. (21537439)
2010
7
Silent thyroiditis, isolated corticotropin deficiency, and alopecia universalis in a patient with ulcerative colitis and elevated levels of plasma factor VIII: an unusual case of autoimmune polyglandular syndrome type 3. (19289325)
2009
8
Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. (18335399)
2008
9
Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. (18580728)
2008
10
Acquired von Willebrand's syndrome in a patient with severe primary hypothyroidism associated with myasthenia gravis in the course of autoimmune polyglandular syndrome type 3. (17880463)
2007
11
A rare case of autoimmune polyglandular syndrome type 3. (12951278)
2003

Variations for Autoimmune Polyglandular Syndrome Type 3

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Expression for genes affiliated with Autoimmune Polyglandular Syndrome Type 3

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autoimmune Polyglandular Syndrome Type 3

Search GEO for disease gene expression data for Autoimmune Polyglandular Syndrome Type 3.

Pathways for genes affiliated with Autoimmune Polyglandular Syndrome Type 3

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 51PharmGKB, 60Thomson Reuters
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Pathways related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0POMC, CYP21A2
29.0POMC, CYP21A2
3
Show member pathways
9.0POMC, CYP21A2
4
Show member pathways
9.0POMC, CYP21A2

Compounds for genes affiliated with Autoimmune Polyglandular Syndrome Type 3

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Sources:
45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 51PharmGKB
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Compounds related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1biotin45 24 1111.6VWF, CYP21A2
2agarose459.6VWF, CYP21A2
3carbon459.6CYP21A2, VWF
4desmopressin45 61 29 1112.5POMC, VWF
5methimazole45 3 1111.5VWF, POMC
6cortrosyn459.5POMC, CYP21A2
73beta-hydroxy-delta5-steroid459.5POMC, CYP21A2
8metformin45 51 1111.5POMC, VWF
921-deoxycortisol45 2410.5POMC, CYP21A2
10nafarelin45 61 29 1112.5CYP21A2, POMC
11fludrocortisone45 29 1111.5POMC, CYP21A2
12acth 1-24459.5POMC, CYP21A2
13cortisol29 2410.5POMC, CYP21A2
1417-hydroxypregnenolone459.5POMC, CYP21A2
15doca459.5CYP21A2, POMC
1611 deoxycortisol459.5CYP21A2, POMC
17aminoglutethimide45 1110.4POMC, CYP21A2
18metyrapone45 61 1111.4CYP21A2, POMC
19cortisone45 2410.4CYP21A2, POMC
2017-hydroxyprogesterone45 2410.4POMC, CYP21A2
21spironolactone45 61 29 51 1113.4CYP21A2, POMC
2211beta-hydroxysteroid459.4CYP21A2, POMC
23citrate459.4POMC, VWF
243beta-hydroxysteroid459.4POMC, CYP21A2
25dehydroepiandrosterone sulfate459.4POMC, CYP21A2
26ketoconazole45 29 24 1112.4POMC, CYP21A2
27formaldehyde45 2410.4POMC, VWF
28dhea459.4POMC, CYP21A2
29androstenedione45 2410.4POMC, CYP21A2
30glycerol45 24 1111.4VWF, POMC
31corticosterone45 61 2411.4POMC, CYP21A2
32catecholamine459.3POMC, CYP21A2
33hydrocortisone45 3 61 1112.3POMC, CYP21A2
34aspirin45 51 29 2412.3VWF, POMC
35acth459.2POMC, CYP21A2
36gnrh459.1POMC, CYP21A2
37ascorbic acid45 2410.1VWF, POMC
38paraffin459.1POMC, VWF
39ribonucleic acid459.1POMC, CYP21A2
40acetylcholine45 51 29 24 1113.0POMC, VWF
41prednisolone45 29 1111.0VWF, CYP21A2, POMC
42thyroxine45 2410.0POMC, CYP21A2, VWF
43epinephrine45 24 1110.9VWF, CYP21A2, POMC
44norepinephrine45 24 1110.9POMC, CYP21A2, VWF
45testosterone45 61 24 1111.9POMC, CYP21A2, VWF
46dexamethasone45 51 29 1111.9VWF, CYP21A2, POMC
47arginine458.9VWF, CYP21A2, POMC
48estrogen458.8VWF, CYP21A2, POMC
49estradiol45 24 1110.7POMC, CYP21A2
50serine458.7POMC, CYP21A2, VWF

GO Terms for genes affiliated with Autoimmune Polyglandular Syndrome Type 3

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Products for genes affiliated with Autoimmune Polyglandular Syndrome Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autoimmune Polyglandular Syndrome Type 3

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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