MCID: ATM025
MIFTS: 32

Autoimmune Polyglandular Syndrome Type 2 malady

Rare diseases, Reproductive diseases, Endocrine diseases categories

Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 2

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
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Aliases & Descriptions for Autoimmune Polyglandular Syndrome Type 2:

Name: Autoimmune Polyglandular Syndrome Type 2 42 48
Autoimmune Thyroid Disease and/or Type 1 Diabetes - Addison Disease 42 48
Autoimmune Polyendocrine Syndrome Type 2 42 48
Autoimmune Polyendocrinopathy Type 2 42 48
Schmidt Syndrome 42 48
Aps Type 2 42 48
Aps2 42 48
Diabetes Mellitus, Addison's Disease, Myxedema 42
 
Multiple Endocrine Deficiency Syndrome, Type 2 42
Autoimmune Syndrome Type Ii, Polyglandular 61
Polyglandular Autoimmune Syndrome, Type 2 42
Autoimmune Syndrome Type Ii Polyglandular 44
Polyglandular Deficiency Syndrome Type 2 42
Schmidt's Syndrome 42
Pga 2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48

External Ids:

Orphanet48 3143
ICD10 via Orphanet26 E31.0

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 autoimmune thyroid disease and/or type 1 diabetes - addison disease, is related to autoimmune polyendocrine syndrome type 2 and autoimmune polyendocrine syndrome, and has symptoms including abnormality of the thyroid gland, primary adrenal insufficiency and type i 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, skin and brain.

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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Symptoms:

 48 (show all 9)
  • thyroid anomalies
  • cortico-adrenal hypoplasia/insufficiency
  • insulin-dependent/type 1 diabetes
  • autosomal recessive inheritance
  • irregular/patchy skin hypopigmentation
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • hypoparathyroidy
  • late puberty/hypogonadism/hypogenitalism
  • muscle anomalies

HPO human phenotypes related to Autoimmune Polyglandular Syndrome Type 2:

(show all 8)
id Description Frequency HPO Source Accession
1 abnormality of the thyroid gland hallmark (90%) HP:0000820
2 primary adrenal insufficiency hallmark (90%) HP:0008207
3 type i diabetes mellitus hallmark (90%) HP:0100651
4 abnormality of the genital system typical (50%) HP:0000078
5 hypoparathyroidism typical (50%) HP:0000829
6 hypopigmented skin patches typical (50%) HP:0001053
7 abnormality of the musculature typical (50%) HP:0003011
8 abnormal hair quantity typical (50%) HP:0011362

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:

31
Thyroid, Skin, 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
Autoimmune polyglandular syndrome type 2: a rare condition in childhood. (25800482)
2015
2
Anti-inflammatory effects of bromocriptine in a patient with autoimmune polyglandular syndrome type 2. (24977964)
2014
3
Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation. (25402387)
2014
4
Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease. (22677116)
2013
5
Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2. (21091821)
2012
6
You're the flight surgeon: autoimmune polyglandular syndrome type 2. (22873000)
2012
7
Coexistence of autoimmune polyglandular syndrome type 2 and diabetes insipidus in pregnancy. (22033074)
2011
8
Autoimmune polyglandular syndrome type 2 induced by treatment with interferon alpha. (21412133)
2011
9
Autoimmune polyglandular syndrome type 2 shows the same HLA class II pattern as type 1 diabetes. (21388354)
2011
10
Autoimmune polyglandular syndrome type 2: an unusual presentation. (21137658)
2010
11
Autoimmune polyglandular syndrome type 2 with myasthenia gravis crisis. (19901721)
2009
12
From macrocytosis to incomplete autoimmune polyglandular syndrome type 2: a poorly known entity. (18205764)
2008
13
A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2. (17558682)
2007
14
Autoimmune polyglandular syndrome Type 2: the tip of an iceberg? (15270837)
2004
15
Assessment of adrenocortical function and autoantibodies in a baby born to a mother with autoimmune polyglandular syndrome Type 2. (15505983)
2004
16
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
17
Autoimmune polyglandular syndrome type 2 and osteoporosis in a 69 years old patient]. (16737004)
2003
18
Type 1 diabetes mellitus masked by primary adrenal insufficiency in a child with autoimmune polyglandular syndrome type 2. (12635986)
2003

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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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, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Autoimmune Polyglandular Syndrome Type 2 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cholesterol44 28 24 1112.0GAD2, INS
2hydrogen44 2410.0GAD2, ATP5O
3c-peptide448.9GAD2, INS

GO Terms for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

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Sources for Autoimmune Polyglandular Syndrome Type 2

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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