APS2
MCID: ATM092
MIFTS: 47

Autoimmune Polyendocrine Syndrome, Type Ii (APS2)

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

Aliases & Classifications for Autoimmune Polyendocrine Syndrome, Type Ii

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome, Type Ii:

Name: Autoimmune Polyendocrine Syndrome, Type Ii 57
Schmidt Syndrome 57 12 76 53 59
Autoimmune Polyendocrine Syndrome Type 2 12 53 59 15
Aps2 57 53 59
Autoimmune Polyglandular Syndrome Type 2 53 59
Autoimmune Thyroid Disease and/or Type 1 Diabetes-Addison Disease Syndrome 59
Diabetes Mellitus, Addison's Disease, Myxedema 53
Multiple Endocrine Deficiency Syndrome, Type 2 53
Diabetes Mellitus, Addison Disease, Myxedema 57
Polyglandular Autoimmune Syndrome, Type Ii 57
Polyendocrine Autoimmune Syndrome, Type Ii 57
Autoimmune Syndrome Type Ii, Polyglandular 73
Autoimmune Polyglandular Syndrome Type Ii 53
Polyglandular Autoimmune Syndrome, Type 2 53
Autoimmune Syndrome Type Ii Polyglandular 55
Polyglandular Deficiency Syndrome Type 2 53
Autoimmune Polyendocrinopathy Type 2 59
Schmidt's Syndrome 53
Aps Type 2 59
Pga Ii 57
Aps Ii 57
Pga-Ii 53
Pga 2 53

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive vs. autosomal dominant or multifactorial


Classifications:



Summaries for Autoimmune Polyendocrine Syndrome, Type Ii

NIH Rare Diseases : 53 Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands. It 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 and other common features include primary hypogonadism, myasthenia gravis, and celiac disease. Autoimmune polyglandular syndrome type 2 is diagnosed in adulthood, typically around age 30. The cause of autoimmune polyglandular syndrome type 2 is unknown, although it may involve a combination of genetic and environmental factors. This condition occurs more often in women than men. About 10% of patients with APS-2 and Addison�??s disease had a relative with adrenal insufficiency, and about 10% of patients with APS-2 and type 1 diabetes had a sibling with the same disease, and,  or with autoimmune thyroid disease. Currently, there are no unique tests to detect APS-2, but testing for autoantibodies may be helpful in assessing disease risk, since the relevant autoantibodies (such as antibodies to  thyroid peroxidase in autoimmune thyroid disease, or to glutamic acid decarboxylase in type 1 diabetes) are frequently detectable years before disease onset.  Treatment is mainly with hormone replacement therapy.  

MalaCards based summary : Autoimmune Polyendocrine Syndrome, Type Ii, also known as schmidt syndrome, is related to autoimmune polyendocrine syndrome and diabetes mellitus. An important gene associated with Autoimmune Polyendocrine Syndrome, Type Ii is GAD2 (Glutamate Decarboxylase 2), and among its related pathways/superpathways are Allograft rejection and Glucose / Energy Metabolism. Affiliated tissues include thyroid, testes and skin, and related phenotypes are type i diabetes mellitus and hashimoto thyroiditis

Disease Ontology : 12 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 : 57 Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1). (269200)

Wikipedia : 76 Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as... more...

Related Diseases for Autoimmune Polyendocrine Syndrome, Type Ii

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome Type 1

Diseases related to Autoimmune Polyendocrine Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome 30.7 GAD1 GAD2
2 diabetes mellitus 29.8 GAD1 GAD2 INS
3 autoimmune disease 29.2 FCRL3 GAD1 GAD2 INS
4 bork stender schmidt syndrome 12.1
5 autoimmune polyendocrine syndrome type 1 11.6
6 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 11.1
7 alopecia universalis congenita 10.2
8 alopecia 10.2
9 cardiac tamponade 10.2
10 cardiac arrest 10.1
11 asthma 10.1
12 hepatitis c virus 10.1
13 hepatitis 10.1
14 hepatitis c 10.1
15 viral infectious disease 10.1
16 allergic asthma 10.1
17 myasthenia gravis 10.0
18 myasthenia gravis congenital 10.0
19 growth hormone deficiency 10.0
20 obsessive-compulsive disorder 10.0
21 schizophrenia 10.0
22 hypoadrenocorticism, familial 10.0
23 hyperprolactinemia 10.0
24 granuloma annulare 10.0
25 leukemia 10.0
26 constrictive pericarditis 10.0
27 paranoid schizophrenia 10.0
28 pure red-cell aplasia 10.0
29 amenorrhea 10.0
30 purpura 10.0
31 lupus erythematosus 10.0
32 achalasia 10.0
33 large granular lymphocyte leukemia 10.0
34 discoid lupus erythematosus 10.0
35 osteoporosis 10.0
36 aceruloplasminemia 10.0
37 common variable immunodeficiency 10.0
38 crohn's disease 10.0
39 polycystic ovary syndrome 10.0
40 thrombosis 10.0
41 hypoparathyroidism 10.0
42 hypothyroidism 10.0
43 turner syndrome 10.0
44 diabetes insipidus 10.0
45 type 1 diabetes mellitus 13 10.0 GAD2 INS
46 pancreatic cystadenoma 10.0 GAD2 INS
47 spastic cerebral palsy 10.0 GAD1 GAD2
48 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.9 GAD1 GAD2
49 monocarboxylate transporter 1 deficiency 9.9 GAD1 INS
50 limbic encephalitis 9.9 GAD1 GAD2

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

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hypothyroidism
hyperthyroidism
pernicious anemia
insulin- dependent diabetes mellitus
addison disease
more
Hair:
alopecia

Heme:
iron deficiency anemia

Eyes:
band keratopathy
keratoconjunctivitis
cataracts

Lab:
association of hla-b8
t-lymphocyte deficiency

Neuro:
seizures
tetany

G I:
cirrhosis
steatorrhea
pancreatic insufficiency
chronic hepatitis
splenic agenesis

Immunology:
thymoma
chronic candidiasis of mucosa, skin and nails
candidal granuloma
thymic dysplasia

Resp:
laryngitis
chronic pulmonary disease


Clinical features from OMIM:

269200

Human phenotypes related to Autoimmune Polyendocrine Syndrome, Type Ii:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type i diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100651
2 hashimoto thyroiditis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000872
3 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
4 celiac disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0002608
5 hypoparathyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0000829
6 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
7 primary adrenal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0008207
8 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
9 abnormality of the musculature 59 32 frequent (33%) Frequent (79-30%) HP:0003011
10 graves disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0100647
11 hypothyroidism 32 HP:0000821
12 seizures 32 HP:0001250
13 cataract 32 HP:0000518
14 type ii diabetes mellitus 32 HP:0005978
15 cirrhosis 32 HP:0001394
16 exocrine pancreatic insufficiency 32 HP:0001738
17 hyperthyroidism 32 HP:0000836
18 tetany 32 HP:0001281
19 iron deficiency anemia 32 HP:0001891
20 thymoma 32 HP:0100522
21 abnormality of the respiratory system 32 HP:0002086
22 abnormality of the thyroid gland 59 Very frequent (99-80%)
23 asplenia 32 HP:0001746
24 steatorrhea 32 HP:0002570
25 band keratopathy 32 HP:0000585
26 keratoconjunctivitis 32 HP:0001096
27 chronic mucocutaneous candidiasis 32 HP:0002728
28 chronic hepatitis 32 HP:0200123

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome, Type Ii

Genetic Tests for Autoimmune Polyendocrine Syndrome, Type Ii

Anatomical Context for Autoimmune Polyendocrine Syndrome, Type Ii

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

41
Thyroid, Testes, Skin, Liver, Pituitary, Ovary, T Cells

Publications for Autoimmune Polyendocrine Syndrome, Type Ii

Articles related to Autoimmune Polyendocrine Syndrome, Type Ii:

(show all 23)
# Title Authors Year
1
The Schmidt Syndrome. ( 29350667 )
2018
2
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. ( 24914264 )
2014
3
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. ( 23648718 )
2013
4
Schmidt syndrome--a rare polyendocrinopathy. ( 23360049 )
2012
5
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. ( 21161541 )
2011
6
Pulmonary hypertension in a patient with Schmidt syndrome. ( 19857444 )
2009
7
Epigastric pain as presentation of an addisonian crisis in a patient with Schmidt syndrome. ( 18272130 )
2008
8
Schmidt syndrome presenting as acute liver failure. ( 15662598 )
2005
9
Postoperative adrenal crisis in a patient with Schmidt syndrome (autoimmune polyglandular endocrinopathy type II). ( 15141804 )
2004
10
Autoantibodies in autoimmune polyendocrine syndrome type II. ( 12092456 )
2002
11
The genetics of autoimmune polyendocrine syndrome type II. ( 12092455 )
2002
12
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II. ( 10376448 )
1999
13
Adrenal insufficiency after recurrent post-partum thyroiditis (post-partum Schmidt syndrome): a case report. ( 9545115 )
1998
14
A case of Schmidt syndrome accompanied by a pituitary adenoma. ( 8980888 )
1996
15
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
16
[Schmidt syndrome--a case report]. ( 1298144 )
1992
17
Schmidt syndrome due to idiopathic accessory nerve paralysis. ( 1879368 )
1991
18
Case report 631: Neo-osseous porosis (metaphyseal osteopenia) in polyglandular autoimmune (Schmidt) syndrome. ( 2218600 )
1990
19
Myasthenia gravis and Schmidt syndrome. ( 3255919 )
1988
20
Schmidt syndrome. ( 3679495 )
1987
21
Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome). ( 6588752 )
1984
22
Myasthenia gravis and Schmidt syndrome. ( 563019 )
1977
23
Addison's disease associated with thyroid insufficiency and atrophy (Schmidt syndrome). ( 13152176 )
1954

Variations for Autoimmune Polyendocrine Syndrome, Type Ii

Expression for Autoimmune Polyendocrine Syndrome, Type Ii

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

Pathways for Autoimmune Polyendocrine Syndrome, Type Ii

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 GAD1 GAD2 INS
2 12.03 GAD1 GAD2 INS
3
Show member pathways
11.74 GAD1 GAD2
4 11.37 GAD1 GAD2
5
Show member pathways
11.04 GAD1 GAD2
6 10.98 GAD1 GAD2
7
Show member pathways
10.94 GAD1 GAD2
8
Show member pathways
10.66 GAD1 GAD2
9
Show member pathways
10.51 GAD1 GAD2
10 10.39 GAD1 GAD2
11
Show member pathways
10.07 GAD1 GAD2
12 9.66 GAD1 GAD2

GO Terms for Autoimmune Polyendocrine Syndrome, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 inhibitory synapse GO:0060077 8.96 GAD1 GAD2
2 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD1 GAD2

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.26 FCRL3 INS
2 carboxylic acid metabolic process GO:0019752 9.16 GAD1 GAD2
3 neurotransmitter biosynthetic process GO:0042136 8.96 GAD1 GAD2
4 glutamate decarboxylation to succinate GO:0006540 8.62 GAD1 GAD2

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.32 GAD1 GAD2
2 pyridoxal phosphate binding GO:0030170 9.26 GAD1 GAD2
3 carboxy-lyase activity GO:0016831 9.16 GAD1 GAD2
4 glutamate binding GO:0016595 8.96 GAD1 GAD2
5 glutamate decarboxylase activity GO:0004351 8.62 GAD1 GAD2

Sources for Autoimmune Polyendocrine Syndrome, Type Ii

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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