APS2
MCID: ATM025
MIFTS: 27

Autoimmune Polyglandular Syndrome Type 2 (APS2) malady

Rare diseases category

Summaries for Autoimmune Polyglandular Syndrome Type 2

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NIH Rare Diseases:42 Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands. this condition is characterized by the presence of addison's disease along with autoimmune thyroid disease and/or type 1 diabetes. affected individuals may also have problems with other endocrine glands. autoimmune polyglandular syndrome type 2 is diagnosed in adulthood, typically around age 30. this condition occurs more often in women than men, and treatment primarily involves hormone replacement therapy. the cause of autoimmune polyglandular syndrome type 2 is unknown, although it may involve a combination of genetic and environmental factors. last updated: 3/24/2010

MalaCards based summary: Autoimmune Polyglandular Syndrome Type 2, also known as schmidt's syndrome, is related to type 1 diabetes mellitus and diabetes mellitus. An important gene associated with Autoimmune Polyglandular Syndrome Type 2 is GAD2 (glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Allograft rejection. The compounds cholesterol and hydrogen have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and ovary.

Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 2

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Sources:
42NIH Rare Diseases, 44Novoseek, 61UMLS
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Autoimmune Polyglandular Syndrome Type 2, Aliases & Descriptions:

Name: Autoimmune Polyglandular Syndrome Type 2 42 61
Schmidt's Syndrome 42 61
Diabetes Mellitus, Addison's Disease, Myxedema 42
Multiple Endocrine Deficiency Syndrome, Type 2 42
Autoimmune Syndrome Type Ii, Polyglandular 61
Autoimmune Syndrome Type Ii Polyglandular 44
 
Polyglandular Autoimmune Syndrome, Type 2 42
Autoimmune Polyendocrine Syndrome Type 2 42
Polyglandular Deficiency Syndrome Type 2 42
Schmidt Syndrome 42
Pga 2 42
Aps2 42


Classifications:

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


Related Diseases for Autoimmune Polyglandular Syndrome Type 2

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Graphical network of the top 20 diseases related to Autoimmune Polyglandular Syndrome Type 2:



Diseases related to autoimmune polyglandular syndrome type 2

Symptoms for Autoimmune Polyglandular Syndrome Type 2

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Drugs & Therapeutics for Autoimmune Polyglandular Syndrome Type 2

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Drug clinical trials:

Search ClinicalTrials for Autoimmune Polyglandular Syndrome Type 2

Search NIH Clinical Center for Autoimmune Polyglandular Syndrome Type 2

Genetic Tests for Autoimmune Polyglandular Syndrome Type 2

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Anatomical Context for Autoimmune Polyglandular Syndrome Type 2

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MalaCards organs/tissues related to Autoimmune Polyglandular Syndrome Type 2:

32
Thyroid, Brain, Ovary

Animal Models for Autoimmune Polyglandular Syndrome Type 2 or affiliated genes

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Publications for Autoimmune Polyglandular Syndrome Type 2

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Articles related to Autoimmune Polyglandular Syndrome Type 2:

(show all 18)
idTitleAuthorsYear
1
Anti-inflammatory effects of bromocriptine in a patient with autoimmune polyglandular syndrome type 2. (24977964)
2014
2
Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation. (25402387)
2014
3
Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease. (22677116)
2013
4
Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2. (21091821)
2012
5
You're the flight surgeon: autoimmune polyglandular syndrome type 2. (22873000)
2012
6
Coexistence of autoimmune polyglandular syndrome type 2 and diabetes insipidus in pregnancy. (22033074)
2011
7
Autoimmune polyglandular syndrome type 2 induced by treatment with interferon alpha. (21412133)
2011
8
Autoimmune polyglandular syndrome type 2 shows the same HLA class II pattern as type 1 diabetes. (21388354)
2011
9
Autoimmune polyglandular syndrome type 2: an unusual presentation. (21137658)
2010
10
Autoimmune polyglandular syndrome type 2 with myasthenia gravis crisis. (19901721)
2009
11
From macrocytosis to incomplete autoimmune polyglandular syndrome type 2: a poorly known entity. (18205764)
2008
12
A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2. (17558682)
2007
13
Autoimmune polyglandular syndrome Type 2: the tip of an iceberg? (15270837)
2004
14
Assessment of adrenocortical function and autoantibodies in a baby born to a mother with autoimmune polyglandular syndrome Type 2. (15505983)
2004
15
Pregnancy in a woman suffering from type 1 diabetes associated with Addison's disease and Hashimoto's thyroiditis (fully developed Autoimmune Polyglandular Syndrome Type 2). (15216452)
2004
16
Autoimmune polyglandular syndrome type 2 and osteoporosis in a 69 years old patient]. (16737004)
2003
17
Type 1 diabetes mellitus masked by primary adrenal insufficiency in a child with autoimmune polyglandular syndrome type 2. (12635986)
2003
18
Coexistence of common variable immunodeficiency and autoimmune polyglandular syndrome type 2. (11393580)
2001

Variations for Autoimmune Polyglandular Syndrome Type 2

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Expression for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

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Expression patterns in normal tissues for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

Search GEO for disease gene expression data for Autoimmune Polyglandular Syndrome Type 2.

Pathways for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

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Compounds for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

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Sources:
44Novoseek, 29IUPHAR, 25HMDB, 12DrugBank
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Compounds related to Autoimmune Polyglandular Syndrome Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cholesterol44 29 25 1212.0GAD2, INS
2hydrogen44 2510.0GAD2, ATP5O
3c-peptide448.9GAD2, INS

GO Terms for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

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Products for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Autoimmune Polyglandular Syndrome Type 2

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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