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

About this section
Sources:
41NIH Rare Diseases, 47Orphanet, 43Novoseek, 60UMLS, 26ICD10 via Orphanet
See all sources

Autoimmune Polyglandular Syndrome Type 2, Aliases & Descriptions:

Name: Autoimmune Polyglandular Syndrome Type 2 41 47
Autoimmune Thyroid Disease and/or Type 1 Diabetes - Addison Disease 41 47
Autoimmune Polyendocrine Syndrome Type 2 41 47
Autoimmune Polyendocrinopathy Type 2 41 47
Schmidt Syndrome 41 47
Aps Type 2 41 47
Aps2 41 47
Multiple Endocrine Deficiency Syndrome, Type 2 41
 
Diabetes Mellitus, Addison's Disease, Myxedema 41
Autoimmune Syndrome Type Ii, Polyglandular 60
Autoimmune Syndrome Type Ii Polyglandular 43
Polyglandular Autoimmune Syndrome, Type 2 41
Polyglandular Deficiency Syndrome Type 2 41
Schmidt's Syndrome 41
Pga 2 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47

External Ids:

Orphanet47 3143
ICD10 via Orphanet26 E31.0

Summaries for Autoimmune Polyglandular Syndrome Type 2

About this section


NIH Rare Diseases:41 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

About this section

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

About this section

Symptoms:

 47 (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

About this section

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

About this section

Anatomical Context for Autoimmune Polyglandular Syndrome Type 2

About this section

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

About this section

Publications for Autoimmune Polyglandular Syndrome Type 2

About this section

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

About this section

Expression for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

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

Pathways for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

About this section

Compounds for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

About this section
Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

Compounds related to Autoimmune Polyglandular Syndrome Type 2 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cholesterol43 28 24 1212.0GAD2, INS
2hydrogen43 2410.0GAD2, ATP5O
3c-peptide438.9GAD2, INS

GO Terms for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

About this section

Products for genes affiliated with Autoimmune Polyglandular Syndrome Type 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Autoimmune Polyglandular Syndrome Type 2

About this section
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