MCID: ATM061
MIFTS: 30

Autoimmune Polyglandular Syndrome Type 3 malady

Rare diseases, Endocrine diseases, Reproductive diseases categories

Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 3

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Autoimmune Polyglandular Syndrome Type 3:

Name: Autoimmune Polyglandular Syndrome Type 3 42 48
Autoimmune Polyendocrine Syndrome Type 3 42 48 61
Autoimmune Polyendocrinopathy Type 3 42 48
Aps Type 3 42 48
 
Aps3 42 48
Polyglandular Type Iii Autoimmune Syndrome 61
Polyglandular Autoimmune Syndrome Type 3 42
Pas3 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
autoimmune polyendocrine syndrome type 3:
Inheritance: Multigenic/multifactorial; Age of onset: All ages


External Ids:

Orphanet48 227982
ICD10 via Orphanet26 E31.0

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 alopecia. 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.

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 Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism30.7POMC, VWF
2alopecia10.5
3growth hormone deficiency10.5
4antley-bixler syndrome10.4CYP21A2
5alopecia universalis10.3
6myasthenia gravis10.3
7ulcerative colitis10.3
8von willebrand's disease10.3
9alopecia areata10.3
10colitis10.3
11thyroiditis10.3
12urticaria10.3
13schizophrenia10.1
14neuronitis10.1
15acute adrenal insufficiency10.0POMC, CYP21A2
16oligomenorrhea10.0POMC, CYP21A2
17conn's syndrome10.0CYP21A2, POMC
18hyperaldosteronism10.0CYP21A2, POMC
19factor v leiden thrombophilia10.0CYP21A2, VWF
20adrenal gland hyperfunction10.0POMC, CYP21A2
21adrenal adenoma10.0CYP21A2, POMC
22brain disease10.0VWF, POMC
23precocious puberty10.0CYP21A2, POMC
24primary hyperoxaluria10.0POMC, VWF
25hypopituitarism10.0POMC, CYP21A2
26congenital adrenal hyperplasia10.0CYP21A2, POMC
27leydig cell tumor10.0POMC, CYP21A2
28addison's disease10.0CYP21A2, POMC
29hyperandrogenism10.0CYP21A2, POMC
30hypersensitivity reaction type ii disease10.0VWF, POMC
31adrenocortical carcinoma10.0CYP21A2, POMC
32adrenal cortical adenoma10.0CYP21A2, POMC
33cushing's syndrome9.9CYP21A2, POMC
34congenital heart disease9.9VWF, POMC
35polycystic ovary syndrome9.9POMC, CYP21A2
36diabetes mellitus, noninsulin-dependent9.9VWF, CYP21A2
37metabolic syndrome x9.9CYP21A2, POMC
38obesity9.8CYP21A2, POMC
39diabetes mellitus, insulin-dependent9.7POMC, 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:

31
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 12)
idTitleAuthorsYear
1
Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3. (25759758)
2015
2
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. (22466347)
2012
3
Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. (22635089)
2012
4
Autoimmune polyglandular syndrome type 3 with anorexia. (23304573)
2012
5
Genetics of the autoimmune polyglandular syndrome type 3 variant. (20578896)
2010
6
Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. (19968812)
2010
7
Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. (21537439)
2010
8
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
9
Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. (18335399)
2008
10
Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. (18580728)
2008
11
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
12
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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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 Suite gene sharing:

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 Suite gene sharing:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1biotin44 24 1111.6VWF, CYP21A2
2agarose449.6CYP21A2, VWF
3carbon449.6CYP21A2, VWF
4desmopressin44 60 28 1112.5VWF, POMC
5methimazole44 1 1111.5POMC, VWF
63beta-hydroxy-delta5-steroid449.5CYP21A2, POMC
7cortrosyn449.5CYP21A2, POMC
8metformin44 50 1111.5POMC, VWF
921-deoxycortisol44 2410.5POMC, CYP21A2
10nafarelin44 60 28 1112.5CYP21A2, POMC
11cortisol28 2410.5CYP21A2, POMC
12acth 1-24449.5CYP21A2, POMC
13fludrocortisone44 28 1111.5CYP21A2, POMC
1417-hydroxypregnenolone449.5POMC, CYP21A2
15doca449.5CYP21A2, POMC
1611 deoxycortisol449.5CYP21A2, POMC
17aminoglutethimide44 1110.4CYP21A2, POMC
18cortisone44 2410.4POMC, CYP21A2
19metyrapone44 60 1111.4POMC, CYP21A2
2017-hydroxyprogesterone44 2410.4CYP21A2, POMC
21spironolactone44 60 28 50 1113.4CYP21A2, POMC
2211beta-hydroxysteroid449.4CYP21A2, POMC
23citrate449.4VWF, POMC
243beta-hydroxysteroid449.4POMC, CYP21A2
25ketoconazole44 28 24 1112.4POMC, CYP21A2
26dehydroepiandrosterone sulfate449.4CYP21A2, POMC
27formaldehyde44 2410.4POMC, VWF
28dhea449.4POMC, CYP21A2
29androstenedione44 2410.4CYP21A2, POMC
30glycerol44 24 1111.4VWF, POMC
31corticosterone44 60 2411.4CYP21A2, POMC
32catecholamine449.3CYP21A2, POMC
33hydrocortisone44 1 60 1112.3POMC, CYP21A2
34aspirin44 50 28 2412.3VWF, POMC
35acth449.2POMC, CYP21A2
36gnrh449.1CYP21A2, POMC
37ascorbic acid44 2410.1VWF, POMC
38paraffin449.1VWF, POMC
39ribonucleic acid449.1CYP21A2, POMC
40acetylcholine44 50 28 24 1113.0VWF, POMC
41prednisolone44 28 1111.0CYP21A2, POMC, VWF
42thyroxine44 2410.0VWF, CYP21A2, POMC
43epinephrine44 24 1110.9POMC, CYP21A2, VWF
44norepinephrine44 24 1110.9POMC, CYP21A2, VWF
45testosterone44 60 24 1111.9CYP21A2, POMC, VWF
46dexamethasone44 50 28 1111.9POMC, CYP21A2, VWF
47arginine448.9VWF, CYP21A2, POMC
48estrogen448.8CYP21A2, POMC, VWF
49estradiol44 24 1110.7CYP21A2, POMC
50serine448.7VWF, POMC, CYP21A2

GO Terms for genes affiliated with Autoimmune Polyglandular Syndrome Type 3

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Sources for Autoimmune Polyglandular Syndrome Type 3

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet