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:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
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Autoimmune Polyglandular Syndrome Type 3, Aliases & Descriptions:

Name: Autoimmune Polyglandular Syndrome Type 3 41 47
Autoimmune Polyendocrine Syndrome Type 3 41 47 60
Autoimmune Polyendocrinopathy Type 3 41 47
Aps Type 3 41 47
 
Aps3 41 47
Polyglandular Type Iii Autoimmune Syndrome 60
Polyglandular Autoimmune Syndrome Type 3 41
Pas3 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Endocrine diseases, Reproductive diseases


Characteristics (Orphanet epidemiological data):

47
autoimmune polyendocrine syndrome type 3:
Inheritance: Multigenic/multifactorial; Age of onset: All ages


External Ids:

Orphanet47 227982
ICD10 via Orphanet26 E31.0

Summaries for Autoimmune Polyglandular Syndrome Type 3

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NIH Rare Diseases:41 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
1biotin43 24 1211.6VWF, CYP21A2
2agarose439.6VWF, CYP21A2
3carbon439.6CYP21A2, VWF
4desmopressin43 59 28 1212.5POMC, VWF
5methimazole43 2 1211.5VWF, POMC
6cortrosyn439.5POMC, CYP21A2
73beta-hydroxy-delta5-steroid439.5POMC, CYP21A2
8metformin43 49 1211.5POMC, VWF
921-deoxycortisol43 2410.5POMC, CYP21A2
10nafarelin43 59 28 1212.5CYP21A2, POMC
11fludrocortisone43 28 1211.5POMC, CYP21A2
12acth 1-24439.5POMC, CYP21A2
13cortisol28 2410.5POMC, CYP21A2
1417-hydroxypregnenolone439.5POMC, CYP21A2
15doca439.5CYP21A2, POMC
1611 deoxycortisol439.5CYP21A2, POMC
17aminoglutethimide43 1210.4POMC, CYP21A2
18metyrapone43 59 1211.4CYP21A2, POMC
19cortisone43 2410.4CYP21A2, POMC
2017-hydroxyprogesterone43 2410.4POMC, CYP21A2
21spironolactone43 59 28 49 1213.4CYP21A2, POMC
2211beta-hydroxysteroid439.4CYP21A2, POMC
23citrate439.4POMC, VWF
243beta-hydroxysteroid439.4POMC, CYP21A2
25dehydroepiandrosterone sulfate439.4POMC, CYP21A2
26ketoconazole43 28 24 1212.4POMC, CYP21A2
27formaldehyde43 2410.4POMC, VWF
28dhea439.4POMC, CYP21A2
29androstenedione43 2410.4POMC, CYP21A2
30glycerol43 24 1211.4VWF, POMC
31corticosterone43 59 2411.4POMC, CYP21A2
32catecholamine439.3POMC, CYP21A2
33hydrocortisone43 2 59 1212.3POMC, CYP21A2
34aspirin43 49 28 2412.3VWF, POMC
35acth439.2POMC, CYP21A2
36gnrh439.1POMC, CYP21A2
37ascorbic acid43 2410.1VWF, POMC
38paraffin439.1POMC, VWF
39ribonucleic acid439.1POMC, CYP21A2
40acetylcholine43 49 28 24 1213.0POMC, VWF
41prednisolone43 28 1211.0VWF, CYP21A2, POMC
42thyroxine43 2410.0POMC, CYP21A2, VWF
43epinephrine43 24 1210.9VWF, CYP21A2, POMC
44norepinephrine43 24 1210.9POMC, CYP21A2, VWF
45testosterone43 59 24 1211.9POMC, CYP21A2, VWF
46dexamethasone43 49 28 1211.9VWF, CYP21A2, POMC
47arginine438.9VWF, CYP21A2, POMC
48estrogen438.8VWF, CYP21A2, POMC
49estradiol43 24 1210.7POMC, CYP21A2
50serine438.7POMC, 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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Sources for Autoimmune Polyglandular Syndrome Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet