APS2
MCID: ATM092
MIFTS: 49

Autoimmune Polyendocrine Syndrome, Type Ii (APS2)

Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Autoimmune Polyendocrine Syndrome, Type Ii

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome, Type Ii:

Name: Autoimmune Polyendocrine Syndrome, Type Ii 57
Autoimmune Polyendocrine Syndrome Type 2 11 19 58 14 75
Schmidt Syndrome 57 11 19 58 75
Aps2 57 19 58
Autoimmune Polyglandular Syndrome Type 2 19 58
Autoimmune Thyroid Disease and/or Type 1 Diabetes-Addison Disease Syndrome 58
Diabetes Mellitus, Addison's Disease, Myxedema 19
Multiple Endocrine Deficiency Syndrome, Type 2 19
Diabetes Mellitus, Addison Disease, Myxedema 57
Polyglandular Autoimmune Syndrome, Type Ii 57
Polyendocrine Autoimmune Syndrome, Type Ii 57
Autoimmune Syndrome Type Ii, Polyglandular 71
Autoimmune Polyglandular Syndrome Type Ii 19
Polyglandular Autoimmune Syndrome, Type 2 19
Autoimmune Syndrome Type Ii Polyglandular 53
Polyglandular Deficiency Syndrome Type 2 19
Autoimmune Polyendocrinopathy Type 2 58
Schmidt's Syndrome 19
Aps Type 2 58
Pga Ii 57
Aps Ii 57
Pga-Ii 19
Pga 2 19

Characteristics:


Inheritance:

Autosomal recessive vs autosomal dominant or multifactorial 57

Age Of Onset:

Autoimmune Polyendocrinopathy Type 2: Adult 58

Classifications:

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


Summaries for Autoimmune Polyendocrine Syndrome, Type Ii

GARD: 19 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. 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. 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.

MalaCards based summary: Autoimmune Polyendocrine Syndrome, Type Ii, also known as autoimmune polyendocrine syndrome type 2, 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 Biogenic amine synthesis and "Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics". Affiliated tissues include thyroid, skin and adrenal cortex, and related phenotypes are type i diabetes mellitus and hashimoto thyroiditis

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 24-Oct-2022)

Orphanet: 58 A rare, endocrine disease characterized by autoimmune Addison disease associated with autoimmune thyroid disease or type I diabetes mellitus, or both, and without chronic candidiasis. Additional endocrine (hypogonadism, hypoparathyroidism) and non-endocrine diseases (vitiligo, autoimmune hepatitis, autoimmune gastritis, pernicious anemia, and myasthenia gravies) may be present.

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: 75 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 304)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 30.8 GAD2 GAD1 AIRE
2 autoimmune polyendocrine syndrome 30.4 PTPN22 NUDT10 GAD2 CCR6 AIRE
3 diabetes mellitus, ketosis-prone 30.4 INS GAD2 GAD1
4 autoimmune gastritis 30.3 NUDT10 CCR6 AIRE
5 myxedema 30.1 POMC INS
6 autoimmune polyendocrine syndrome type 1 30.1 NUDT10 GAD2 CCR6 AIRE
7 hypoadrenocorticism, familial 30.0 PTPN22 POMC CCR6 AIRE
8 crohn's disease 29.9 SIGLEC5 PTPN22 CCR6
9 chronic mucocutaneous candidiasis 29.8 PTPN22 NUDT10 CCR6 AIRE
10 graves' disease 29.8 PTPN22 HLA-DQA1 GAD2 GAD1 AIRE
11 empty sella syndrome 29.8 POMC INS
12 graves disease 1 29.7 POMC INS
13 vitiligo-associated multiple autoimmune disease susceptibility 1 29.7 PTPN22 POMC CCR6 AIRE
14 premature menopause 29.7 POMC NUDT10 INS AIRE
15 alopecia areata 29.7 PTPN22 HLA-DQA1 AIRE
16 hypopituitarism 29.6 RNU4ATAC POMC INS
17 hypothyroidism 29.5 PTPN22 POMC INS AIRE
18 chronic fatigue syndrome 29.5 POMC INS CCR6
19 anxiety 29.5 POMC INS GAD2 GAD1
20 thyroiditis 29.5 TNFRSF25 PTPN22 INS HLA-DQA1 AIRE
21 hashimoto thyroiditis 29.4 TNFRSF25 PTPN22 GAD2 GAD1 CCR6 AIRE
22 autoimmune disease 29.3 PTPN22 INS HLA-DQA1 GAD2 GAD1 CCR6
23 pernicious anemia 29.1 TNFRSF25 PTPN22 NUDT10 INS GAD2 CCR6
24 type 1 diabetes mellitus 29.1 TNFRSF25 PTPN22 INS HLA-DQA1 GAD2 GAD1
25 connective tissue disease 29.1 TNFRSF10A SIGLEC5 RNU4ATAC INS HLA-DQA1 CCR6
26 celiac disease 1 28.3 TNFRSF25 TNFRSF10A PTPN22 NUDT10 INS HLA-DQA1
27 adrenal cortical hypofunction 27.3 TNFRSF25 TNFRSF10A SIGLEC5 PTPN22 POMC NUDT10
28 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 11.2
29 metaphyseal undermodeling, spondylar dysplasia, and overgrowth 11.2
30 autoimmune addison disease 10.4
31 primary adrenal insufficiency 10.3
32 cardiac tamponade 10.3
33 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
34 myasthenia gravis 10.3
35 premature ovarian failure 7 10.3
36 hypoparathyroidism 10.3
37 candidiasis 10.3
38 gastritis 10.3
39 monocarboxylate transporter 1 deficiency 10.3 INS GAD1
40 systemic lupus erythematosus 10.3
41 lupus erythematosus 10.3
42 alopecia universalis congenita 10.2
43 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.2
44 pericardial effusion 10.2
45 goiter 10.2
46 phobia, specific 10.2 GAD2 GAD1
47 miller fisher syndrome 10.2 GAD2 CCR6
48 immunodeficiency 58 10.2 NUDT10 AIRE
49 stiff-person syndrome 10.2 INS GAD2 GAD1
50 esophageal candidiasis 10.2 CCR6 AIRE

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 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type i diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100651
2 hashimoto thyroiditis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000872
3 celiac disease 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002608
4 primary adrenal insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008207
5 graves disease 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100647
6 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
7 hypopigmented skin patches 58 30 Frequent (33%) Frequent (79-30%)
HP:0001053
8 hypoparathyroidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000829
9 hypogonadism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000135
10 abnormality of the musculature 58 30 Frequent (33%) Frequent (79-30%)
HP:0003011
11 hypothyroidism 30 HP:0000821
12 cataract 30 HP:0000518
13 type ii diabetes mellitus 30 HP:0005978
14 cirrhosis 30 HP:0001394
15 exocrine pancreatic insufficiency 30 HP:0001738
16 tetany 30 HP:0001281
17 hyperthyroidism 30 HP:0000836
18 abnormality of the thyroid gland 58 Very frequent (99-80%)
19 steatorrhea 30 HP:0002570
20 asplenia 30 HP:0001746
21 iron deficiency anemia 30 HP:0001891
22 keratoconjunctivitis 30 HP:0001096
23 chronic mucocutaneous candidiasis 30 HP:0002728
24 thymoma 30 HP:0100522
25 chronic hepatitis 30 HP:0200123
26 band keratopathy 30 HP:0000585
27 seizure 30 HP:0001250
28 subglottic laryngitis 30 HP:0033000

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neuro:
seizures
tetany

Hair:
alopecia

Heme:
iron deficiency anemia

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

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

Eyes:
keratoconjunctivitis
band keratopathy
cataracts

Resp:
laryngitis
chronic pulmonary disease

Clinical features from OMIM®:

269200 (Updated 24-Oct-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 AIRE GAD1 GAD2 HLA-DQA1 INS POMC
2 no phenotypic analysis MP:0003012 9.8 AIRE GAD1 GAD2 INS POMC SIGLEC5
3 immune system MP:0005387 9.65 AIRE CCR6 GAD2 HLA-DQA1 INS POMC
4 hematopoietic system MP:0005397 9.28 AIRE CCR6 HLA-DQA1 INS POMC PTPN22

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prevalence and Genetic Alternation of Autoimmune Polyglandular Syndrome Type II in Taiwan Recruiting NCT05578105

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

Organs/tissues related to Autoimmune Polyendocrine Syndrome, Type Ii:

MalaCards : Thyroid, Skin, Adrenal Cortex, T Cells, Adrenal Gland, Smooth Muscle, Spinal Cord

Publications for Autoimmune Polyendocrine Syndrome, Type Ii

Articles related to Autoimmune Polyendocrine Syndrome, Type Ii:

(show top 50) (show all 470)
# Title Authors PMID Year
1
Autoimmune polyglandular syndrome Type 2: the tip of an iceberg? 62 57
15270837 2004
2
Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. 62 57
12050123 2002
3
Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome). 62 57
7643982 1995
4
Polyglandular autoimmune syndrome type II. 62 57
3281739 1988
5
Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome). 62 57
6588752 1984
6
Familial Schmidt's syndrome. 62 57
7431539 1980
7
SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY) AND COEXISTENT DIABETES MELLITUS. 62 57
14280372 1965
8
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. 62 57
14132718 1964
9
Autoimmune polyendocrine syndromes. 57
15141045 2004
10
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
11
Polyglandular autoimmune syndrome: current concepts. 57
3281737 1988
12
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
13
The polyglandular failure syndrome: disease inheritance, HLA type, and immune function. 57
314765 1979
14
HLA type and occurrence of disease in familial polyglandular failure. 57
619238 1978
15
Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies. 57
4139522 1974
16
DIABETES MELLITUS, ADDISON'S DISEASE AND MYXEDEMA--REPORT OF TWO CASES. 57
14264246 1965
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. 53 62
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. 53 62
7578849 1994
19
One-year safety and efficacy of tapinarof cream for the treatment of plaque psoriasis: Results from the PSOARING 3 trial. 62
35772599 2022
20
Tapinarof for the treatment of psoriasis. 62
36226669 2022
21
Synthesis and Evaluation of Oligonucleotide-Containing 2'-O-{[(4,5',8-Trimethylpsoralen)-4'-ylmethoxy]ethylaminocarb-onyl}adenosine as Photo-crosslinkable Gene Targeting Tools. 62
35896347 2022
22
Comparative analysis of fat composition in marrow, serum, and muscle from aging C57BL6 mice. 62
35752298 2022
23
Ocular Sarcoidosis and Autoimmune Polyglandular Syndrome Type 2: A Case Report. 62
36126065 2022
24
[Just Anorexia?] 62
36102024 2022
25
Optimization of the conditions for the immobilization of glycopolypeptides on hydrophobic silica particulates and simple purification of lectin using glycopolypeptide-immobilized particulates. 62
35749901 2022
26
Influence of the ecological environment on the structural characteristics and bioactivities of polysaccharides from alfalfa (Medicago sativa L.). 62
35678155 2022
27
End-Stage Renal Disease in a Patient With Schmidt's Syndrome: A Case Report. 62
36046305 2022
28
Adrenal hemorrhage following direct oral anticoagulant (DOAC) therapy: two case reports and literature review. 62
35790995 2022
29
Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II. 62
35182386 2022
30
Autoimmune polyglandular syndrome type 2: A case report. 62
35600201 2022
31
Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome. 62
35676000 2022
32
Atypical Case of Schmidt's Syndrome in a Young Male. 62
35911265 2022
33
Autoimmune polyglandular syndrome type II presenting as subacute combined degeneration of spinal cord: a neuroendocrinology crossroad. 62
34958534 2022
34
Adolescent onset of autoimmune polyglandular syndrome type 2. 62
35606028 2022
35
Cardiac tamponade as the initial presentation of autoimmune polyglandular syndrome Type 2: a case report. 62
35528129 2022
36
Adrenal crisis in a patient with APS2 due to COVID-19: A case report. 62
35800560 2022
37
Biocompatible poly(galacturonic acid) micro/nanogels with controllable degradation via tunable chemical crosslinking. 62
34998881 2022
38
Validity and risk of adopting PGA ≤ 2 as a remission criteria of Boolean in clinical practice in patient with rheumatoid arthritis. 62
35194126 2022
39
Successful Pregnancy Outcome in a Lady with Polyglandular Autoimmune Syndrome Type II. 62
34983158 2022
40
Autoimmune polyglandular syndrome type 2 in an HIV-positive man managed at the University Teaching Hospitals Lusaka, Zambia: a case report. 62
35382047 2022
41
Systemic lupus erythematosus and secondary antiphospholipid syndrome in native sisters with reduced fertility. 62
35896399 2022
42
Delay in Diagnosis of Autoimmune Polyendocrine Syndrome Type 2 as a Consequence of Misinterpretation of Gastrointestinal Symptoms. 62
35368451 2022
43
New-Onset Primary Adrenal Insufficiency and Autoimmune Hypothyroidism in a Pediatric Patient Presenting with MIS-C. 62
35609533 2022
44
Hydrocephalus and myasthenia gravis: neurological manifestations in autoimmune polyendocrine syndrome type II. 62
35020165 2022
45
Relationship Between the Structure and Immune Activity of Components From the Active Polysaccharides APS-II of Astragali Radix by Enzymolysis of Endo α-1,4-Glucanase. 62
35281923 2022
46
Prevalence of Autoimmune Disease in Patients with Eosinophilic Esophagitis: A Cross-sectional Study of Three Hospitals in Japan. 62
34024859 2021
47
A Rare Case of Addison's Disease Presenting With Intermittent Pancytopenia and Cardiac Tamponade. 62
34765731 2021
48
Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity. 62
33966174 2021
49
[Autoinmune polyendocrinopathy]. 62
33958142 2021
50
Colchicine - an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants. 62
34521435 2021

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

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 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.92 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 neurotransmitter biosynthetic process GO:0042136 9.46 GAD2 GAD1
2 carboxylic acid metabolic process GO:0019752 9.26 GAD2 GAD1
3 gamma-aminobutyric acid biosynthetic process GO:0009449 9.26 GAD2 GAD1
4 glutamate decarboxylation to succinate GO:0006540 8.92 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 carbon-carbon lyase activity GO:0016830 8.96 GAD2 GAD1
2 glutamate decarboxylase activity GO:0004351 8.92 GAD2 GAD1

Sources for Autoimmune Polyendocrine Syndrome, Type Ii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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