APS3
MCID: ATM061
MIFTS: 30

Autoimmune Polyglandular Syndrome Type 3 (APS3) malady

Rare diseases category

Summaries for Autoimmune Polyglandular Syndrome Type 3

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NIH Rare Diseases:42 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 based summary: Autoimmune Polyglandular Syndrome Type 3, also known as autoimmune polyendocrine syndrome type 3, 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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Autoimmune Polyglandular Syndrome Type 3, Aliases & Descriptions:

Name: Autoimmune Polyglandular Syndrome Type 3 42
Autoimmune Polyendocrine Syndrome Type 3 42 61
Polyglandular Type Iii Autoimmune Syndrome 61
 
Polyglandular Autoimmune Syndrome Type 3 42
Aps3 42
Pas3 42


Classifications:

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


Related Diseases for Autoimmune Polyglandular Syndrome Type 3

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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
3antley-bixler syndrome10.4CYP21A2
4alopecia10.3
5myasthenia gravis10.3
6ulcerative colitis10.3
7von willebrand's disease10.3
8alopecia universalis10.3
9colitis10.3
10thyroiditis10.3
11autoimmune polyendocrinopathy type 310.3
12acute adrenal insufficiency10.0POMC, CYP21A2
13conn's syndrome10.0CYP21A2, POMC
14hyperaldosteronism10.0CYP21A2, POMC
15factor v leiden thrombophilia10.0CYP21A2, VWF
16adrenal gland hyperfunction10.0POMC, CYP21A2
17adrenal adenoma10.0CYP21A2, POMC
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
26type 2 diabetes mellitus10.0VWF, CYP21A2
27hypersensitivity reaction type ii disease10.0VWF, POMC
28adrenocortical carcinoma10.0CYP21A2, POMC
29adrenal cortical adenoma10.0CYP21A2, POMC
30cushing's syndrome10.0CYP21A2, POMC
31congenital heart disease9.9VWF, POMC
32polycystic ovary syndrome9.9POMC, CYP21A2
33insulin resistance9.9VWF, CYP21A2
34metabolic syndrome x9.9CYP21A2, POMC
35obesity9.8CYP21A2, POMC
36diabetes mellitus9.8POMC, 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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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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MalaCards organs/tissues related to Autoimmune Polyglandular Syndrome Type 3:

32
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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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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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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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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Compounds related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1biotin44 25 1211.6VWF, CYP21A2
2agarose449.6CYP21A2, VWF
3carbon449.6CYP21A2, VWF
4desmopressin44 60 29 1212.5VWF, POMC
5methimazole44 3 1211.5POMC, VWF
63beta-hydroxy-delta5-steroid449.5CYP21A2, POMC
7cortrosyn449.5CYP21A2, POMC
8metformin44 50 1211.5POMC, VWF
921-deoxycortisol44 2510.5POMC, CYP21A2
10nafarelin44 60 29 1212.5CYP21A2, POMC
11cortisol29 2510.5CYP21A2, POMC
12acth 1-24449.5CYP21A2, POMC
13fludrocortisone44 29 1211.5CYP21A2, POMC
1417-hydroxypregnenolone449.5POMC, CYP21A2
15doca449.5CYP21A2, POMC
1611 deoxycortisol449.5CYP21A2, POMC
17aminoglutethimide44 1210.4CYP21A2, POMC
18cortisone44 2510.4POMC, CYP21A2
19metyrapone44 60 1211.4POMC, CYP21A2
2017-hydroxyprogesterone44 2510.4CYP21A2, POMC
21spironolactone44 60 29 50 1213.4CYP21A2, POMC
2211beta-hydroxysteroid449.4CYP21A2, POMC
23citrate449.4VWF, POMC
243beta-hydroxysteroid449.4POMC, CYP21A2
25ketoconazole44 29 25 1212.4POMC, CYP21A2
26dehydroepiandrosterone sulfate449.4CYP21A2, POMC
27formaldehyde44 2510.4POMC, VWF
28dhea449.4POMC, CYP21A2
29androstenedione44 2510.4CYP21A2, POMC
30glycerol44 25 1211.4VWF, POMC
31corticosterone44 60 2511.4CYP21A2, POMC
32catecholamine449.3CYP21A2, POMC
33hydrocortisone44 3 60 1212.3POMC, CYP21A2
34aspirin44 50 29 2512.3VWF, POMC
35acth449.2POMC, CYP21A2
36gnrh449.1CYP21A2, POMC
37ascorbic acid44 2510.1VWF, POMC
38paraffin449.1VWF, POMC
39ribonucleic acid449.1CYP21A2, POMC
40acetylcholine44 50 29 25 1213.0VWF, POMC
41prednisolone44 29 1211.0CYP21A2, POMC, VWF
42thyroxine44 2510.0VWF, CYP21A2, POMC
43epinephrine44 25 1210.9POMC, CYP21A2, VWF
44norepinephrine44 25 1210.9POMC, CYP21A2, VWF
45testosterone44 60 25 1211.9CYP21A2, POMC, VWF
46dexamethasone44 50 29 1211.9POMC, CYP21A2, VWF
47arginine448.9VWF, CYP21A2, POMC
48estrogen448.8CYP21A2, POMC, VWF
49estradiol44 25 1210.7CYP21A2, POMC
50serine448.7VWF, POMC, CYP21A2

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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Sources for Autoimmune Polyglandular Syndrome Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet