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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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH Rare Diseases, 63UMLS
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Classifications:

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


Aliases & Descriptions:

autoimmune polyglandular syndrome type 3 44
polyglandular type iii autoimmune syndrome 63
autoimmune polyendocrine syndrome type 3 44
polyglandular autoimmune syndrome type 3 44
pas3 44
aps3 44


Related Diseases for Autoimmune Polyglandular Syndrome Type 3

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18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Autoimmune Polyglandular Syndrome Type 3

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Anatomical Context for Autoimmune Polyglandular Syndrome Type 3

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34MalaCards
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MalaCards organs/tissues related to Autoimmune Polyglandular Syndrome Type 3:

34
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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53PubMed
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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, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson 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:
46Novoseek, 25HMDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 52PharmGKB
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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
1biotin46 25 1211.6VWF, CYP21A2
2agarose469.6VWF, CYP21A2
3carbon469.6CYP21A2, VWF
4desmopressin46 62 30 1212.5POMC, VWF
5methimazole46 3 1211.5VWF, POMC
6cortrosyn469.5POMC, CYP21A2
73beta-hydroxy-delta5-steroid469.5POMC, CYP21A2
8metformin46 52 1211.5POMC, VWF
921-deoxycortisol46 2510.5POMC, CYP21A2
10nafarelin46 62 30 1212.5CYP21A2, POMC
11fludrocortisone46 30 1211.5POMC, CYP21A2
12acth 1-24469.5POMC, CYP21A2
13cortisol30 2510.5POMC, CYP21A2
1417-hydroxypregnenolone469.5POMC, CYP21A2
15doca469.5CYP21A2, POMC
1611 deoxycortisol469.5CYP21A2, POMC
17aminoglutethimide46 1210.4POMC, CYP21A2
18metyrapone46 62 1211.4CYP21A2, POMC
19cortisone46 2510.4CYP21A2, POMC
2017-hydroxyprogesterone46 2510.4POMC, CYP21A2
21spironolactone46 62 30 52 1213.4CYP21A2, POMC
2211beta-hydroxysteroid469.4CYP21A2, POMC
23citrate469.4POMC, VWF
243beta-hydroxysteroid469.4POMC, CYP21A2
25dehydroepiandrosterone sulfate469.4POMC, CYP21A2
26ketoconazole46 30 25 1212.4POMC, CYP21A2
27formaldehyde46 2510.4POMC, VWF
28dhea469.4POMC, CYP21A2
29androstenedione46 2510.4POMC, CYP21A2
30glycerol46 25 1211.4VWF, POMC
31corticosterone46 62 2511.4POMC, CYP21A2
32catecholamine469.3POMC, CYP21A2
33hydrocortisone46 3 62 1212.3POMC, CYP21A2
34aspirin46 52 30 2512.3VWF, POMC
35acth469.2POMC, CYP21A2
36gnrh469.1POMC, CYP21A2
37ascorbic acid46 2510.1VWF, POMC
38paraffin469.1POMC, VWF
39ribonucleic acid469.1POMC, CYP21A2
40acetylcholine46 52 30 25 1213.0POMC, VWF
41prednisolone46 30 1211.0VWF, CYP21A2, POMC
42thyroxine46 2510.0POMC, CYP21A2, VWF
43epinephrine46 25 1210.9VWF, CYP21A2, POMC
44norepinephrine46 25 1210.9POMC, CYP21A2, VWF
45testosterone46 62 25 1211.9POMC, CYP21A2, VWF
46dexamethasone46 52 30 1211.9VWF, CYP21A2, POMC
47arginine468.9VWF, CYP21A2, POMC
48estrogen468.8VWF, CYP21A2, POMC
49estradiol46 25 1210.7POMC, CYP21A2
50serine468.7POMC, 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet