APS2
MCID: ATM092
MIFTS: 45

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 73 20 58
Autoimmune Polyendocrine Syndrome Type 2 12 20 58 15
Aps2 57 20 58
Autoimmune Polyglandular Syndrome Type 2 20 58
Autoimmune Thyroid Disease and/or Type 1 Diabetes-Addison Disease Syndrome 58
Diabetes Mellitus, Addison's Disease, Myxedema 20
Multiple Endocrine Deficiency Syndrome, Type 2 20
Diabetes Mellitus, Addison Disease, Myxedema 57
Polyglandular Autoimmune Syndrome, Type Ii 57
Polyendocrine Autoimmune Syndrome, Type Ii 57
Autoimmune Syndrome Type Ii, Polyglandular 70
Autoimmune Polyglandular Syndrome Type Ii 20
Polyglandular Autoimmune Syndrome, Type 2 20
Autoimmune Syndrome Type Ii Polyglandular 54
Polyglandular Deficiency Syndrome Type 2 20
Autoimmune Polyendocrinopathy Type 2 58
Schmidt's Syndrome 20
Aps Type 2 58
Pga Ii 57
Aps Ii 57
Pga-Ii 20
Pga 2 20

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive vs. autosomal dominant or multifactorial


HPO:

31
autoimmune polyendocrine syndrome, type ii:
Inheritance autosomal dominant inheritance autosomal recessive inheritance multifactorial inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Autoimmune Polyendocrine Syndrome, Type Ii

GARD : 20 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, type i, with or without reversible metaphyseal dysplasia and autoimmune polyendocrine syndrome. An important gene associated with Autoimmune Polyendocrine Syndrome, Type Ii is GAD2 (Glutamate Decarboxylase 2), and among its related pathways/superpathways are Butanoate metabolism and Alanine, aspartate and glutamate metabolism. Affiliated tissues include thyroid, cortex and bone, 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) (Updated 20-May-2021)

Wikipedia : 73 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 214)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.1 GAD2 GAD1 AIRE
2 autoimmune polyendocrine syndrome 30.5 INS GAD2 GAD1 CCR6 AIRE
3 diabetes mellitus, ketosis-prone 30.3 INS GAD2 GAD1
4 autoimmune polyendocrine syndrome type 1 30.2 NUDT10 CCR6 AIRE
5 vitiligo-associated multiple autoimmune disease susceptibility 1 30.0 PTPN22 CCR6 AIRE
6 anxiety 29.9 INS GAD2 GAD1
7 thyroiditis 29.8 PTPN22 INS AIRE
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 PTPN22 INS GAD2 GAD1 AIRE
9 graves' disease 29.8 PTPN22 GAD2 AIRE
10 chronic mucocutaneous candidiasis 29.7 PTPN22 CCR6 AIRE
11 type 1 diabetes mellitus 29.6 TNFRSF25 PTPN22 INS GAD2 GAD1
12 hashimoto thyroiditis 29.4 PTPN22 GAD2 CCR6 AIRE
13 autoimmune disease 29.1 PTPN22 INS GAD2 GAD1 CCR6 AIRE
14 pernicious anemia 28.9 TNFRSF25 PTPN22 NUDT10 GAD2 CCR6 AIRE
15 celiac disease 1 28.2 UBASH3A TNFRSF25 PTPN22 NUDT10 INS GAD2
16 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 11.3
17 primary adrenal insufficiency 10.3
18 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
19 splenic flexure cancer 10.3 INS GAD2
20 hypoparathyroidism 10.3
21 candidiasis 10.3
22 gastritis 10.3
23 gamma-amino butyric acid metabolism disorder 10.3 GAD2 GAD1
24 lupus erythematosus 10.3
25 monocarboxylate transporter 1 deficiency 10.2 INS GAD1
26 spastic cerebral palsy 10.2 GAD2 GAD1
27 alopecia universalis congenita 10.2
28 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.2
29 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.2
30 limbic encephalitis 10.2 GAD2 GAD1
31 anal spasm 10.2 GAD2 AIRE
32 pancreatic cystadenoma 10.2 INS GAD2
33 mucormycosis 10.2 INS CCR6
34 autoimmune disease of peripheral nervous system 10.2 GAD2 CCR6
35 nasopharyngitis 10.2 INS CCR6
36 pyelitis 10.2 INS CCR6
37 cellulitis 10.2 INS CCR6
38 cutaneous candidiasis 10.2 CCR6 AIRE
39 esophageal candidiasis 10.2 CCR6 AIRE
40 succinic semialdehyde dehydrogenase deficiency 10.2 GAD2 GAD1
41 sebaceous gland disease 10.1 INS CCR6
42 sarcoidosis 1 10.1
43 nail disorder, nonsyndromic congenital, 1 10.1 CCR6 AIRE
44 hepatic vascular disease 10.1 INS CCR6
45 atrial standstill 1 10.1
46 hypoadrenocorticism, familial 10.1
47 myasthenia gravis 10.1
48 type 1 diabetes mellitus 21 10.1
49 cardiac arrest 10.1
50 premature menopause 10.1

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

Human phenotypes related to Autoimmune Polyendocrine Syndrome, Type Ii:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type i diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100651
2 hashimoto thyroiditis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000872
3 celiac disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0002608
4 primary adrenal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008207
5 graves disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0100647
6 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
7 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
8 hypoparathyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0000829
9 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
10 abnormality of the musculature 58 31 frequent (33%) Frequent (79-30%) HP:0003011
11 hypothyroidism 31 HP:0000821
12 cataract 31 HP:0000518
13 type ii diabetes mellitus 31 HP:0005978
14 cirrhosis 31 HP:0001394
15 exocrine pancreatic insufficiency 31 HP:0001738
16 tetany 31 HP:0001281
17 hyperthyroidism 31 HP:0000836
18 abnormality of the respiratory system 31 HP:0002086
19 abnormality of the thyroid gland 58 Very frequent (99-80%)
20 steatorrhea 31 HP:0002570
21 asplenia 31 HP:0001746
22 keratoconjunctivitis 31 HP:0001096
23 chronic mucocutaneous candidiasis 31 HP:0002728
24 thymoma 31 HP:0100522
25 iron deficiency anemia 31 HP:0001891
26 chronic hepatitis 31 HP:0200123
27 band keratopathy 31 HP:0000585
28 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neuro:
seizures
tetany

Hair:
alopecia

Eyes:
keratoconjunctivitis
band keratopathy
cataracts

Heme:
iron deficiency anemia

Lab:
association of hla-b8
t-lymphocyte deficiency

Endocrine:
hypothyroidism
hyperthyroidism
pernicious anemia
insulin- dependent diabetes mellitus
addison disease
more
G I:
cirrhosis
steatorrhea
chronic hepatitis
pancreatic insufficiency
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 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.56 AIRE CCR6 GAD2 GPR174 INS PTPN22
2 normal MP:0002873 9.1 AIRE CCR6 GAD1 GAD2 INS UBASH3A

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:

40
Thyroid, Cortex, Bone, Adrenal Gland, Skin, Adrenal Cortex, Pituitary

Publications for Autoimmune Polyendocrine Syndrome, Type Ii

Articles related to Autoimmune Polyendocrine Syndrome, Type Ii:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome). 57 61
6588752 1984
2
Autoimmune polyglandular syndrome Type 2: the tip of an iceberg? 57
15270837 2004
3
Autoimmune polyendocrine syndromes. 57
15141045 2004
4
Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. 57
12050123 2002
5
Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease. 57
10523017 1999
6
Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome). 57
7643982 1995
7
Polyglandular autoimmune syndrome type II. 57
3281739 1988
8
Polyglandular autoimmune syndrome: current concepts. 57
3281737 1988
9
Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. 57
3484749 1986
10
Familial Schmidt's syndrome. 57
7431539 1980
11
The polyglandular failure syndrome: disease inheritance, HLA type, and immune function. 57
314765 1979
12
HLA type and occurrence of disease in familial polyglandular failure. 57
619238 1978
13
Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies. 57
4139522 1974
14
DIABETES MELLITUS, ADDISON'S DISEASE AND MYXEDEMA--REPORT OF TWO CASES. 57
14264246 1965
15
SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY). A REVIEW OF THE LITERATURE AND A REPORT OF FIFTEEN NEW CASES INCLUDING TEN INSTANCES OF COEXISTENT DIABETES MELLITUS. 57
14132718 1964
16
Autoimmune Polyendocrine Syndromes. 20
29562162 2018
17
Distinct antigenic features of linear epitopes at the N-terminus and C-terminus of 65 kDa glutamic acid decarboxylase (GAD65): implications for autoantigen modification during pathogenesis. 61 54
12296864 2002
18
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. 54 61
7578849 1994
19
Autoimmune polyendocrine syndrome induced by immune checkpoint inhibitors: a systematic review. 61
33200250 2020
20
Co-Occurrence of Systemic Lupus Erythematosus and Autoimmune Polyendocrine Syndrome II: Is There a Pathologic Link? 61
33269118 2020
21
Mixed phenotypic presentation of autoimmune polyendocrine syndrome type II in adolescent female. 61
32754527 2020
22
Anti-programmed cell death protein 1 (anti-PD1) immunotherapy induced autoimmune polyendocrine syndrome type II (APS-2): a case report and review of the literature. 61
31488221 2019
23
The Schmidt Syndrome. 61
29350667 2018
24
Schimidt Syndrome: An Unusual Cause of Hypercalcaemia. 61
27437284 2016
25
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. 61
24914264 2014
26
Thyroid autoimmunity and polyglandular endocrine syndromes. 61
23624130 2013
27
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. 61
23648718 2013
28
Polyglandular autoimmune syndrome (PGA)--type 2 with diabetic ketoacidosis. 61
22009276 2012
29
Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2. 61
21091821 2012
30
Schmidt syndrome--a rare polyendocrinopathy. 61
23360049 2012
31
A Filipino woman with autoimmune polyglandular syndrome. 61
22665707 2012
32
[Diarrhea as first manifestation of the autoimmune pluriglandular syndrome type II (Schmidt Syndrome)]. 61
21531407 2011
33
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. 61
21161541 2011
34
Lymphocytic adenohypophysitis and adrenalitis in a dog with adrenal and thyroid atrophy. 61
20807820 2010
35
Pulmonary hypertension in a patient with Schmidt syndrome. 61
19857444 2009
36
Takotsubo cardiomyopathy associated with autoimmune polyendocrine syndrome II. 61
19304138 2009
37
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease. 61
22980466 2008
38
Autoimmune polyendocrine syndrome with atrial septal defect. 61
18277128 2008
39
Epigastric pain as presentation of an addisonian crisis in a patient with Schmidt syndrome. 61
18272130 2008
40
[19-year-old patient with adrenal cortex insufficiency--only the tip of the iceberg. Polyendocrine autoimmune syndrome type II (Schmidt syndrome)]. 61
18303665 2008
41
Palmar skin lesions reversed by propylthiouracil therapy. 61
16858175 2006
42
Anesthetic management of autoimmune polyglandular syndrome (Schmidt's syndrome)--a case report-. 61
16381269 2005
43
Schmidt syndrome presenting as acute liver failure. 61
15662598 2005
44
Postoperative adrenal crisis in a patient with Schmidt syndrome (autoimmune polyglandular endocrinopathy type II). 61
15141804 2004
45
The genetics of autoimmune polyendocrine syndrome type II. 61
12092455 2002
46
Autoantibodies in autoimmune polyendocrine syndrome type II. 61
12092456 2002
47
Autoimmune adrenocortical failure in Norway autoantibodies and human leukocyte antigen class II associations related to clinical features. 61
11836294 2002
48
[Increasing pigmentation in Schmidt syndrome (polyglandular autoimmune syndrome type II]. 61
11715397 2001
49
32-year old patient presenting with autoimmune polyglandular syndrome. 61
11313187 2001
50
[Manifestation of adrenal insufficiency after administration of levothyroxine in a patient with polyglangular autoimmune syndrome type II (Schmidt-syndrome)]. 61
10907192 2000

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.01 GAD2 GAD1
2 10.97 GAD2 GAD1
3
Show member pathways
10.89 GAD2 GAD1
4
Show member pathways
10.66 GAD2 GAD1
5
Show member pathways
10.51 GAD2 GAD1
6 10.39 GAD2 GAD1
7
Show member pathways
10.07 GAD2 GAD1
8 9.66 GAD2 GAD1

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 GAD2 GAD1
2 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD2 GAD1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of T cell receptor signaling pathway GO:0050860 9.32 UBASH3A PTPN22
2 carboxylic acid metabolic process GO:0019752 9.26 GAD2 GAD1
3 neurotransmitter biosynthetic process GO:0042136 9.16 GAD2 GAD1
4 locomotory exploration behavior GO:0035641 8.96 MYG1 GAD1
5 glutamate decarboxylation to succinate GO:0006540 8.62 GAD2 GAD1

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

# Name GO ID Score Top Affiliating Genes
1 carboxy-lyase activity GO:0016831 9.16 GAD2 GAD1
2 glutamate binding GO:0016595 8.96 GAD2 GAD1
3 glutamate decarboxylase activity GO:0004351 8.62 GAD2 GAD1

Sources for Autoimmune Polyendocrine Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....