APS2
MCID: ATM092
MIFTS: 39

Autoimmune Polyendocrine Syndrome, Type Ii (APS2) 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:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Autoimmune Polyendocrine Syndrome, Type Ii:

Name: Autoimmune Polyendocrine Syndrome, Type Ii 52
Autoimmune Polyendocrine Syndrome Type 2 11 48 54 13
Schmidt Syndrome 11 48 54
Autoimmune Polyglandular Syndrome Type 2 48 54
Aps2 48 54
Autoimmune Thyroid Disease and/or Type 1 Diabetes-Addison Disease Syndrome 54
Multiple Endocrine Deficiency Syndrome, Type 2 48
Diabetes Mellitus, Addison's Disease, Myxedema 48
 
Autoimmune Syndrome Type Ii, Polyglandular 68
Polyglandular Autoimmune Syndrome, Type 2 48
Autoimmune Syndrome Type Ii Polyglandular 50
Polyglandular Deficiency Syndrome Type 2 48
Autoimmune Polyendocrinopathy Type 2 54
Schmidt's Syndrome 48
Aps Type 2 54
Pga 2 48

Characteristics:

Orphanet epidemiological data:

54

Classifications:



External Ids:

OMIM52 269200
Disease Ontology11 DOID:0050168
Orphanet54 ORPHA3143
ICD10 via Orphanet31 E31.0

Summaries for Autoimmune Polyendocrine Syndrome, Type Ii

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Autoimmune Polyendocrine Syndrome, Type Ii is GAD2 (Glutamate Decarboxylase 2), and among its related pathways are Alanine, aspartate and glutamate metabolism and Butanoate metabolism. Affiliated tissues include thyroid and skin, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

OMIM:52 Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune... (269200) more...

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.

Wikipedia:71 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 the top 20 diseases related to Autoimmune Polyendocrine Syndrome, Type Ii:



Diseases related to autoimmune polyendocrine syndrome, type ii

Symptoms & Phenotypes 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:

 54 64 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadism64 54 Frequent (79-30%) HP:0000135
2 abnormality of the thyroid gland54 Very frequent (99-80%)
3 hypoparathyroidism64 54 Frequent (79-30%) HP:0000829
4 hashimoto thyroiditis64 54 Very frequent (99-80%) HP:0000872
5 hypopigmented skin patches64 54 Frequent (79-30%) HP:0001053
6 alopecia64 54 Frequent (79-30%) HP:0001596
7 celiac disease64 54 Very frequent (99-80%) HP:0002608
8 abnormality of the musculature64 54 Frequent (79-30%) HP:0003011
9 primary adrenal insufficiency64 54 Very frequent (99-80%) HP:0008207
10 graves disease64 54 Very frequent (99-80%) HP:0100647
11 type i diabetes mellitus64 54 Very frequent (99-80%) HP:0100651
12 cataract64 HP:0000518
13 band keratopathy64 HP:0000585
14 hypothyroidism64 HP:0000821
15 hyperthyroidism64 HP:0000836
16 keratoconjunctivitis64 HP:0001096
17 seizures64 HP:0001250
18 tetany64 HP:0001281
19 cirrhosis64 HP:0001394
20 exocrine pancreatic insufficiency64 HP:0001738
21 asplenia64 HP:0001746
22 iron deficiency anemia64 HP:0001891
23 abnormality of the respiratory system64 HP:0002086
24 steatorrhea64 HP:0002570
25 chronic mucocutaneous candidiasis64 HP:0002728
26 type ii diabetes mellitus64 HP:0005978
27 thymoma64 HP:0100522
28 chronic hepatitis64 HP:0200123

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome, Type Ii according to GeneCards Suite gene sharing:

41
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

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:

36
Thyroid, Skin

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
19.4GAD1, GAD2
2
Show member pathways
9.4GAD1, GAD2
39.4GAD1, GAD2
4
Show member pathways
9.4GAD1, GAD2
59.4GAD1, GAD2
6
Show member pathways
9.4GAD1, 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:00612029.7GAD1, GAD2
2inhibitory synapseGO:00600779.4GAD1, GAD2

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

idNameGO IDScoreTop Affiliating Genes
1carboxylic acid metabolic processGO:00197529.9GAD1, GAD2
2glutamate decarboxylation to succinateGO:00065409.9GAD1, GAD2
3neurotransmitter biosynthetic processGO:00421369.9GAD1, GAD2
4neurotransmitter secretionGO:00072699.4GAD1, GAD2

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

idNameGO IDScoreTop Affiliating Genes
1carboxy-lyase activityGO:001683110.0GAD1, GAD2
2glutamate bindingGO:001659510.0GAD1, GAD2
3glutamate decarboxylase activityGO:000435110.0GAD1, GAD2
4lyase activityGO:00168299.9GAD1, GAD2
5pyridoxal phosphate bindingGO:00301709.4GAD1, GAD2

Sources for Autoimmune Polyendocrine Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet