MCID: ATM092
MIFTS: 40

Autoimmune Polyendocrine Syndrome, Type Ii malady

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

Aliases & Classifications for Autoimmune Polyendocrine Syndrome, Type Ii

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 48Novoseek, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autoimmune Polyendocrine Syndrome, Type Ii:

Name: Autoimmune Polyendocrine Syndrome, Type Ii 50
Autoimmune Polyendocrine Syndrome Type 2 11 46 13 52
Schmidt Syndrome 11 46 52
Autoimmune Polyglandular Syndrome Type 2 46 52
Aps2 46 52
Autoimmune Thyroid Disease and/or Type 1 Diabetes-Addison Disease Syndrome 52
Multiple Endocrine Deficiency Syndrome, Type 2 46
Diabetes Mellitus, Addison's Disease, Myxedema 46
 
Autoimmune Syndrome Type Ii, Polyglandular 66
Polyglandular Autoimmune Syndrome, Type 2 46
Autoimmune Syndrome Type Ii Polyglandular 48
Polyglandular Deficiency Syndrome Type 2 46
Autoimmune Polyendocrinopathy Type 2 52
Schmidt's Syndrome 46
Aps Type 2 52
Pga 2 46

Characteristics:

Orphanet epidemiological data:

52

Classifications:



External Ids:

OMIM50 269200
Disease Ontology11 DOID:0050168
Orphanet52 ORPHA3143
ICD10 via Orphanet29 E31.0

Summaries for Autoimmune Polyendocrine Syndrome, Type Ii

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NIH Rare Diseases:46 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 no phenotypic analysis 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:50 Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune... (269200) 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

Symptoms:

 52 (show all 11)
  • hypogonadism
  • abnormality of the thyroid gland
  • hypoparathyroidism
  • hashimoto thyroiditis
  • hypopigmented skin patches
  • alopecia
  • celiac disease
  • abnormality of the musculature
  • primary adrenal insufficiency
  • graves disease
  • type i diabetes mellitus

HPO human phenotypes related to Autoimmune Polyendocrine Syndrome, Type Ii:

(show all 27)
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
9 cataract HP:0000518
10 band keratopathy HP:0000585
11 hypothyroidism HP:0000821
12 hyperthyroidism HP:0000836
13 keratoconjunctivitis HP:0001096
14 seizures HP:0001250
15 tetany HP:0001281
16 cirrhosis HP:0001394
17 alopecia HP:0001596
18 exocrine pancreatic insufficiency HP:0001738
19 asplenia HP:0001746
20 iron deficiency anemia HP:0001891
21 abnormality of the respiratory system HP:0002086
22 steatorrhea HP:0002570
23 chronic mucocutaneous candidiasis HP:0002728
24 type ii diabetes mellitus HP:0005978
25 primary adrenal insufficiency HP:0008207
26 hepatitis HP:0012115
27 thymoma HP:0100522

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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4AIRE, GAD1, GAD2, INS
2MP:00053798.4AIRE, GAD1, GAD2, INS
3MP:00053818.3AIRE, GAD1, GAD2, INS
4MP:00028738.1AIRE, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet