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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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 62
Polyglandular Type Iii Autoimmune Syndrome 62
 
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
14hyperaldosteronism10.0POMC, CYP21A2
15factor v leiden thrombophilia10.0CYP21A2, VWF
16adrenal gland hyperfunction10.0POMC, CYP21A2
17adrenal adenoma10.0CYP21A2, POMC
18prion disease10.0POMC, VWF
19precocious puberty10.0POMC, CYP21A2
20primary hyperoxaluria10.0POMC, VWF
21congenital adrenal hyperplasia10.0CYP21A2, POMC
22hypopituitarism10.0CYP21A2, POMC
23leydig cell tumor10.0POMC, CYP21A2
24addison's disease10.0CYP21A2, POMC
25adrenocortical carcinoma10.0CYP21A2, POMC
26type 2 diabetes mellitus10.0CYP21A2, VWF
27hypersensitivity reaction type ii disease10.0VWF, POMC
28hyperandrogenism10.0CYP21A2, POMC
29adrenal cortical adenoma10.0POMC, CYP21A2
30cushing's syndrome10.0POMC, CYP21A2
31congenital heart disease9.9VWF, POMC
32polycystic ovary syndrome9.9POMC, CYP21A2
33insulin resistance9.9VWF, CYP21A2
34metabolic syndrome x9.9POMC, CYP21A2
35obesity9.8POMC, CYP21A2
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 24 1111.6VWF, CYP21A2
2agarose449.6VWF, CYP21A2
3carbon449.6CYP21A2, VWF
4desmopressin44 61 28 1112.5POMC, VWF
5methimazole44 2 1111.5VWF, POMC
6cortrosyn449.5POMC, CYP21A2
73beta-hydroxy-delta5-steroid449.5POMC, CYP21A2
8metformin44 50 1111.5POMC, VWF
921-deoxycortisol44 2410.5POMC, CYP21A2
10nafarelin44 61 28 1112.5CYP21A2, POMC
11fludrocortisone44 28 1111.5POMC, CYP21A2
12acth 1-24449.5POMC, CYP21A2
13cortisol28 2410.5POMC, CYP21A2
1417-hydroxypregnenolone449.5POMC, CYP21A2
15doca449.5CYP21A2, POMC
1611 deoxycortisol449.5CYP21A2, POMC
17aminoglutethimide44 1110.4POMC, CYP21A2
18metyrapone44 61 1111.4CYP21A2, POMC
19cortisone44 2410.4CYP21A2, POMC
2017-hydroxyprogesterone44 2410.4POMC, CYP21A2
21spironolactone44 61 28 50 1113.4CYP21A2, POMC
2211beta-hydroxysteroid449.4CYP21A2, POMC
23citrate449.4POMC, VWF
243beta-hydroxysteroid449.4POMC, CYP21A2
25dehydroepiandrosterone sulfate449.4POMC, CYP21A2
26ketoconazole44 28 24 1112.4POMC, CYP21A2
27formaldehyde44 2410.4POMC, VWF
28dhea449.4POMC, CYP21A2
29androstenedione44 2410.4POMC, CYP21A2
30glycerol44 24 1111.4VWF, POMC
31corticosterone44 61 2411.4POMC, CYP21A2
32catecholamine449.3POMC, CYP21A2
33hydrocortisone44 2 61 1112.3POMC, CYP21A2
34aspirin44 50 28 2412.3VWF, POMC
35acth449.2POMC, CYP21A2
36gnrh449.1POMC, CYP21A2
37ascorbic acid44 2410.1VWF, POMC
38paraffin449.1POMC, VWF
39ribonucleic acid449.1POMC, CYP21A2
40acetylcholine44 50 28 24 1113.0POMC, VWF
41prednisolone44 28 1111.0VWF, CYP21A2, POMC
42thyroxine44 2410.0POMC, CYP21A2, VWF
43epinephrine44 24 1110.9VWF, CYP21A2, POMC
44norepinephrine44 24 1110.9POMC, CYP21A2, VWF
45testosterone44 61 24 1111.9POMC, CYP21A2, VWF
46dexamethasone44 50 28 1111.9VWF, CYP21A2, POMC
47arginine448.9VWF, CYP21A2, POMC
48estrogen448.8VWF, CYP21A2, POMC
49estradiol44 24 1110.7POMC, CYP21A2
50serine448.7POMC, 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
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Sources for Autoimmune Polyglandular Syndrome Type 3

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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