MCID: ATM092
MIFTS: 38

Autoimmune Polyendocrine Syndrome, Type Ii malady

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome, Type Ii

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Sources:
11Disease Ontology, 13DISEASES, 30ICD10 via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Autoimmune Polyendocrine Syndrome, Type Ii:

Name: Autoimmune Polyendocrine Syndrome, Type Ii 51
Autoimmune Polyendocrine Syndrome Type 2 11 47 53 13
Schmidt Syndrome 11 47 53
Autoimmune Polyglandular Syndrome Type 2 47 53
Aps2 47 53
Autoimmune Thyroid Disease and/or Type 1 Diabetes-Addison Disease Syndrome 53
Multiple Endocrine Deficiency Syndrome, Type 2 47
Diabetes Mellitus, Addison's Disease, Myxedema 47
 
Autoimmune Syndrome Type Ii, Polyglandular 67
Polyglandular Autoimmune Syndrome, Type 2 47
Autoimmune Syndrome Type Ii Polyglandular 49
Polyglandular Deficiency Syndrome Type 2 47
Autoimmune Polyendocrinopathy Type 2 53
Schmidt's Syndrome 47
Aps Type 2 53
Pga 2 47

Characteristics:

Orphanet epidemiological data:

53

Classifications:



External Ids:

OMIM51 269200
Disease Ontology11 DOID:0050168
Orphanet53 ORPHA3143
ICD10 via Orphanet30 E31.0

Summaries for Autoimmune Polyendocrine Syndrome, Type Ii

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NIH Rare Diseases:47 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: 12/28/2015

MalaCards based summary: Autoimmune Polyendocrine Syndrome, Type Ii, also known as autoimmune polyendocrine syndrome type 2, is related to bork stender schmidt syndrome and uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly, and has symptoms including abnormality of the thyroid gland, primary adrenal insufficiency and type i diabetes mellitus. An important gene associated with Autoimmune Polyendocrine Syndrome, Type Ii is GAD2 (Glutamate Decarboxylase 2), and among its related pathways are beta-Alanine metabolism (KEGG) and Butanoate metabolism. Affiliated tissues include thyroid and skin, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

Disease Ontology:11 An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.

OMIM:51 Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune... (269200) more...

Wikipedia:70 Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as... more...

Related Diseases for Autoimmune Polyendocrine Syndrome, Type Ii

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Graphical network of diseases related to Autoimmune Polyendocrine Syndrome, Type Ii:



Diseases related to autoimmune polyendocrine syndrome, type ii

Symptoms for Autoimmune Polyendocrine Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

269200

Clinical features from OMIM:

269200

Human phenotypes related to Autoimmune Polyendocrine Syndrome, Type Ii:

 63 53 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the thyroid gland63 53 hallmark (90%) Very frequent (99-80%) HP:0000820
2 primary adrenal insufficiency63 53 hallmark (90%) Very frequent (99-80%) HP:0008207
3 type i diabetes mellitus63 53 hallmark (90%) Very frequent (99-80%) HP:0100651
4 abnormality of the genital system63 typical (50%) HP:0000078
5 hypoparathyroidism63 53 typical (50%) Frequent (79-30%) HP:0000829
6 hypopigmented skin patches63 53 typical (50%) Frequent (79-30%) HP:0001053
7 abnormality of the musculature63 53 typical (50%) Frequent (79-30%) HP:0003011
8 abnormal hair quantity63 typical (50%) HP:0011362
9 cataract63 HP:0000518
10 band keratopathy63 HP:0000585
11 hypothyroidism63 HP:0000821
12 hyperthyroidism63 HP:0000836
13 keratoconjunctivitis63 HP:0001096
14 seizures63 HP:0001250
15 tetany63 HP:0001281
16 cirrhosis63 HP:0001394
17 alopecia63 53 Frequent (79-30%) HP:0001596
18 exocrine pancreatic insufficiency63 HP:0001738
19 asplenia63 HP:0001746
20 iron deficiency anemia63 HP:0001891
21 abnormality of the respiratory system63 HP:0002086
22 steatorrhea63 HP:0002570
23 chronic mucocutaneous candidiasis63 HP:0002728
24 type ii diabetes mellitus63 HP:0005978
25 hepatitis63 HP:0012115
26 thymoma63 HP:0100522
27 hypogonadism53 Frequent (79-30%)
28 hashimoto thyroiditis53 Very frequent (99-80%)
29 celiac disease53 Very frequent (99-80%)
30 graves disease53 Very frequent (99-80%)

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome, Type Ii

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Autoimmune Polyendocrine Syndrome, Type Ii

Genetic Tests for Autoimmune Polyendocrine Syndrome, Type Ii

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Anatomical Context for Autoimmune Polyendocrine Syndrome, Type Ii

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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome, Type Ii:

35
Thyroid, Skin

Animal Models for Autoimmune Polyendocrine Syndrome, Type Ii or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome, Type Ii:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1AIRE, GAD1, GAD2, INS
2MP:00053799.1AIRE, GAD1, GAD2, INS
3MP:00030129.1AIRE, GAD1, GAD2, INS
4MP:00028738.4AIRE, GAD1, GAD2, INS

Publications for Autoimmune Polyendocrine Syndrome, Type Ii

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Articles related to Autoimmune Polyendocrine Syndrome, Type Ii:

idTitleAuthorsYear
1
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. (24914264)
2014
2
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. (23648718)
2013
3
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. (21161541)
2011
4
Autoantibodies in autoimmune polyendocrine syndrome type II. (12092456)
2002
5
The genetics of autoimmune polyendocrine syndrome type II. (12092455)
2002
6
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II. (10376448)
1999
7
Association between antibodies to the MR 67,000 isoform of glutamate decarboxylase (GAD) and type 1 (insulin-dependent) diabetes mellitus with coexisting autoimmune polyendocrine syndrome type II. (7578849)
1994

Variations for Autoimmune Polyendocrine Syndrome, Type Ii

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Expression for genes affiliated with Autoimmune Polyendocrine Syndrome, Type Ii

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Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome, Type Ii.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome, Type Ii

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Pathways related to Autoimmune Polyendocrine Syndrome, Type Ii according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4GAD1, GAD2
2
Show member pathways
9.4GAD1, GAD2
39.4GAD1, GAD2
4
Show member pathways
9.4GAD1, GAD2
59.4GAD1, GAD2
69.4GAD1, GAD2
79.4GAD1, GAD2
8
Show member pathways
9.4GAD1, GAD2
9
Show member pathways
9.4GAD1, GAD2
10
Show member pathways
9.4GAD1, GAD2
11
Show member pathways
8.9GAD1, GAD2, INS

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome, Type Ii

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Cellular components related to Autoimmune Polyendocrine Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:00612029.4GAD1, GAD2

Biological processes related to Autoimmune Polyendocrine Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylation to succinateGO:00065409.8GAD1, GAD2
2neurotransmitter secretionGO:00072699.4GAD1, GAD2
3neurotransmitter biosynthetic processGO:00421369.3GAD1, GAD2

Molecular functions related to Autoimmune Polyendocrine Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylase activityGO:00043519.8GAD1, GAD2
2glutamate bindingGO:00165959.4GAD1, GAD2
3pyridoxal phosphate bindingGO:00301709.4GAD1, GAD2

Sources for Autoimmune Polyendocrine Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet