MCID: ATM092
MIFTS: 47

Autoimmune Polyendocrine Syndrome, Type Ii

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Immune 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 autoimmune disease. 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 51)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome 29.6 AIRE GAD1 GAD2
2 autoimmune disease 28.8 AIRE GAD2 INS
3 diabetes mellitus 28.0 AIRE GAD1 GAD2 INS
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 27.9 AIRE GAD1 GAD2 INS
5 bork stender schmidt syndrome 12.0
6 autoimmune polyendocrine syndrome type 1 11.5
7 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 10.9
8 type 1 diabetes mellitus 13 10.1 GAD2 INS
9 alopecia universalis congenita 10.0
10 alopecia 10.0
11 thyroiditis 10.0
12 cardiac arrest 9.9
13 growth hormone deficiency 9.9
14 obsessive-compulsive disorder 9.9
15 schizophrenia 9.9
16 hypoadrenocorticism, familial 9.9
17 hyperprolactinemia 9.9
18 leukemia 9.9
19 paranoid schizophrenia 9.9
20 pure red-cell aplasia 9.9
21 amenorrhea 9.9
22 purpura 9.9
23 lupus erythematosus 9.9
24 large granular lymphocyte leukemia 9.9
25 discoid lupus erythematosus 9.9
26 osteoporosis 9.9
27 myasthenia gravis 9.9
28 aceruloplasminemia 9.9
29 ataxia-oculomotor apraxia 3 9.9
30 common variable immunodeficiency 9.9
31 crohn's disease 9.9
32 polycystic ovary syndrome 9.9
33 hypoparathyroidism 9.9
34 hypothyroidism 9.9
35 turner syndrome 9.9
36 spastic cerebral palsy 9.9 GAD1 GAD2
37 limbic encephalitis 9.8 GAD1 GAD2
38 type 1 diabetes mellitus 5 9.8 AIRE INS
39 monocarboxylate transporter 1 deficiency 9.8 GAD1 INS
40 autoimmune disease 1 9.8
41 infantile liver failure syndrome 1 9.8
42 acute liver failure 9.8
43 pericarditis 9.7
44 prediabetes syndrome 9.7 GAD1 INS
45 glucose metabolism disease 9.7 GAD2 INS
46 acquired metabolic disease 9.4 GAD2 INS
47 diabetes mellitus, ketosis-prone 9.4 GAD1 GAD2 INS
48 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.4 AIRE GAD1 GAD2
49 stiff-person syndrome 9.4 GAD1 GAD2 INS
50 autoimmune disease of endocrine system 9.3 AIRE GPR174

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

GI:
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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.56 AIRE GAD1 GAD2 INS
2 endocrine/exocrine gland MP:0005379 9.46 AIRE GAD1 GAD2 INS
3 no phenotypic analysis MP:0003012 9.26 GAD1 GAD2 INS AIRE
4 normal MP:0002873 8.92 AIRE GAD1 GAD2 INS

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome, Type Ii

Search Clinical Trials , 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

Publications for Autoimmune Polyendocrine Syndrome, Type Ii

Articles related to Autoimmune Polyendocrine Syndrome, Type Ii:

(show all 11)
# 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
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. ( 21161541 )
2011
5
Schmidt syndrome presenting as acute liver failure. ( 15662598 )
2005
6
Autoantibodies in autoimmune polyendocrine syndrome type II. ( 12092456 )
2002
7
The genetics of autoimmune polyendocrine syndrome type II. ( 12092455 )
2002
8
Autoantibodies to adrenal cytochrome P450 antigens in isolated Addison's disease and autoimmune polyendocrine syndrome type II. ( 10376448 )
1999
9
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
10
[Schmidt syndrome--a case report]. ( 1298144 )
1992
11
Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome). ( 6588752 )
1984

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 12.07 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
10.9 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 neurotransmitter secretion GO:0007269 9.26 GAD1 GAD2
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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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