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APS3
MCID: ATM061
MIFTS: 29

Autoimmune Polyglandular Syndrome Type 3 (APS3)

Categories: Endocrine diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 3

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MalaCards integrated aliases for Autoimmune Polyglandular Syndrome Type 3:

Name: Autoimmune Polyglandular Syndrome Type 3 52
Autoimmune Polyendocrine Syndrome Type 3 52 71
Autoimmune Polyglandular Syndrome Type Iii 52
Polyglandular Type Iii Autoimmune Syndrome 71
Polyglandular Autoimmune Syndrome Type 3 52
Pga-Iii 52
Aps3 52
Pas3 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C1535942 C3266027
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Summaries for Autoimmune Polyglandular Syndrome Type 3

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NIH Rare Diseases : 52 Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body's endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones . This condition is characterized by autoimmune thyroiditis along with another organ -specific autoimmune disease . The other autoimmune diseases may include diabetes mellitus , pernicious anemia , vitiligo , alopecia , myasthenia gravis , and Sjogren's syndrome . The adrenal cortex (the outer layer of the adrenal gland) is not involved. There are three types of autoimmune polyglandular syndrome type 3: APS3A - Autoimmune thyroiditis with immune-mediated diabetes mellitus (IMDM) APS3B - Autoimmune thyroiditis with pernicious anemia APS3C - Autoimmune thyroiditis with vitiligo and/or alopecia and/or other organ-specific autoimmune disease The cause is still unknown, but it is believed that it may be an autoimmune disease, where environmental factors (such as viral infections) and genetic factors (such as variations in the HLA II genes ) are also involved in the disease. In many cases more than one member of the same family is affected with PAS III, suggesting that its inheritance could be autosomal dominant , and therefore, familiar screening is recommended. It is very important that people with APS3 are monitored closely by their doctors for early detection of any glandular problems. Treatment includes lifelong hormone replacement therapy for any established glandular failure.

MalaCards based summary : Autoimmune Polyglandular Syndrome Type 3, also known as autoimmune polyendocrine syndrome type 3, is related to hashimoto thyroiditis and graves' disease. An important gene associated with Autoimmune Polyglandular Syndrome Type 3 is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2), and among its related pathways/superpathways are ICos-ICosL Pathway in T-Helper Cell and TCR signaling (REACTOME). Affiliated tissues include thyroid, cortex and adrenal gland, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Autoimmune Polyglandular Syndrome Type 3

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Diseases related to Autoimmune Polyglandular Syndrome Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 hashimoto thyroiditis 29.8 HLA-DRB1 HLA-DQB1
2 graves' disease 29.6 HLA-DRB1 HLA-DQB1
3 alopecia areata 29.4 HLA-DRB1 HLA-DQB1
4 sarcoidosis 1 29.4 HLA-DRB1 HLA-DQB1
5 celiac disease 1 29.3 HLA-DRB1 HLA-DQB1 CYP21A2
6 primary adrenal insufficiency 29.1 HLA-DRB1 HLA-DQB1 CYP21A2
7 diabetes mellitus, insulin-dependent 29.0 HLA-DRB1 HLA-DQB1 CYP21A2
8 autoimmune polyendocrinopathy type 3 11.5
9 thyroiditis 10.5
10 hypothyroidism 10.3
11 autoimmune polyendocrine syndrome 10.3
12 alopecia 10.3
13 schizophrenia 10.3
14 cryptococcosis 10.3
15 pernicious anemia 10.2
16 myasthenia gravis 10.2
17 growth hormone deficiency 10.2
18 dermatitis herpetiformis, familial 10.1
19 hypoparathyroidism 10.1
20 conn's syndrome 10.1
21 dermatitis 10.1
22 dermatitis herpetiformis 10.1
23 lymphomatous thyroiditis 10.1
24 atrial standstill 1 10.1
25 hypoadrenocorticism, familial 10.1
26 leukemia, acute myeloid 10.1
27 cholangitis, primary sclerosing 10.1
28 colitis 10.1
29 dilated cardiomyopathy 10.1
30 uveitis 10.1
31 diarrhea 10.1
32 sclerosing cholangitis 10.1
33 urticaria 10.1
34 hypogonadism 10.1
35 liver disease 10.1
36 intestinal disease 10.1
37 hypogonadotropism 10.1
38 myeloid leukemia 10.1
39 crohn's disease 10.1
40 cholangitis 10.1
41 lymphangiectasis 10.1
42 autoimmune disease 10.0
43 rheumatoid arthritis 10.0
44 thrombocytopenic purpura, autoimmune 10.0
45 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
46 alopecia universalis congenita 10.0
47 graves disease 1 10.0
48 ataxia and polyneuropathy, adult-onset 10.0
49 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
50 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0

Graphical network of the top 20 diseases related to Autoimmune Polyglandular Syndrome Type 3:



Diseases related to Autoimmune Polyglandular Syndrome Type 3
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Symptoms & Phenotypes for Autoimmune Polyglandular Syndrome Type 3

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GenomeRNAi Phenotypes related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.53 CYP21A2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 CYP21A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.53 HLA-DRB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.53 HLA-DRB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.53 HLA-DRB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.53 CYP21A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.53 HLA-DRB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.53 HLA-DRB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.53 CYP21A2 HLA-DRB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.53 HLA-DRB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.53 CYP21A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.53 HLA-DRB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 CYP21A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.53 CYP21A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.53 HLA-DRB1
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Drugs & Therapeutics for Autoimmune Polyglandular Syndrome Type 3

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Search Clinical Trials , NIH Clinical Center for Autoimmune Polyglandular Syndrome Type 3

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Genetic Tests for Autoimmune Polyglandular Syndrome Type 3

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Anatomical Context for Autoimmune Polyglandular Syndrome Type 3

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MalaCards organs/tissues related to Autoimmune Polyglandular Syndrome Type 3:

40
Thyroid, Cortex, Adrenal Gland, Adrenal Cortex, Myeloid, T Cells, Brain
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Publications for Autoimmune Polyglandular Syndrome Type 3

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Articles related to Autoimmune Polyglandular Syndrome Type 3:

(show all 34)
# Title Authors PMID Year
1
Autoimmune polyglandular syndrome type 3 variant in rheumatoid arthritis. 61
31756165 2019
2
Human Leukocyte Antigen (HLA) Subtype-Dependent Development of Myasthenia Gravis, Type-1 Diabetes Mellitus, and Hashimoto Disease: A Case Report of Autoimmune Polyendocrine Syndrome Type 3. 61
31745069 2019
3
Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. 61
30924131 2019
4
Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant. 61
29958949 2018
5
Diabetes mellitus and thyroid diseases. 61
30603357 2018
6
Epidemiological and clinical peculiarities of polyglandular syndrome type 3 in pediatric age. 61
28784159 2017
7
Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI). 61
27240263 2016
8
Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population. 61
27427767 2016
9
Association Studies of the GPR103 and BCL2L15 Genes in Autoimmune Thyroid Disease in the Japanese Population. 61
27486433 2016
10
Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 61
25936594 2015
11
Dissecting the role of the FOXP3 gene in the joint genetic susceptibility to autoimmune thyroiditis and diabetes: a genetic and functional analysis. 61
25481456 2015
12
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. 61
25821607 2015
13
Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3. 61
25759758 2015
14
[Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus]. 61
26181158 2015
15
Late primary autoimmune hypothyroidism in a patient with postdelivery autoimmune hypopituitarism associated with antibodies to growth hormone and prolactin-secreting cells. 61
23286389 2013
16
[Progression of right internal carotid artery stenosis in ischemic stroke patient with autoimmune polyglandular syndrome: A case report]. 61
23892964 2013
17
Simultaneous occurrence of type 1 diabetes mellitus and Graves' disease: a report of two cases and a review of the literature. 61
24240794 2013
18
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. 61
22466347 2012
19
[Detection of thyroid antibodies in children with type 1 diabetes mellitus]. 61
22289750 2012
20
Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. 61
22635089 2012
21
Autoimmune polyglandular syndrome type 3 with anorexia. 61
23304573 2012
22
[Autoimmune polyendocrine syndrome type 3 in a patient after surgical treatment of Cushing syndrome]. 61
22335143 2011
23
[A case of autoimmune polyglandular syndrome-related Parkinsonian syndrome that required differentiation from multiple system atrophy]. 61
21061549 2010
24
Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. 61
19968812 2010
25
Shared molecular amino acid signature in the HLA-DR peptide binding pocket predisposes to both autoimmune diabetes and thyroiditis. 61
20837527 2010
26
Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. 61
21537439 2010
27
Genetics of the autoimmune polyglandular syndrome type 3 variant. 61
20578896 2010
28
Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families. 61
19141582 2009
29
Silent thyroiditis, isolated corticotropin deficiency, and alopecia universalis in a patient with ulcerative colitis and elevated levels of plasma factor VIII: an unusual case of autoimmune polyglandular syndrome type 3. 61
19289325 2009
30
Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. 61
18776148 2008
31
Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. 61
18580728 2008
32
[Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. 61
18335399 2008
33
Acquired von Willebrand's syndrome in a patient with severe primary hypothyroidism associated with myasthenia gravis in the course of autoimmune polyglandular syndrome type 3. 61
17880463 2007
34
A rare case of autoimmune polyglandular syndrome type 3. 61
12951278 2003
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Variations for Autoimmune Polyglandular Syndrome Type 3

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Expression for Autoimmune Polyglandular Syndrome Type 3

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Search GEO for disease gene expression data for Autoimmune Polyglandular Syndrome Type 3.
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Pathways for Autoimmune Polyglandular Syndrome Type 3

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Pathways related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 11.94 HLA-DRB1 HLA-DQB1
2
TCR signaling (REACTOME) 65
Show member pathways
 11.9 HLA-DRB1 HLA-DQB1
3
Human T-cell leukemia virus 1 infection 36
11.88 HLA-DRB1 HLA-DQB1
4
Toxoplasmosis 36
Show member pathways
 11.8 HLA-DRB1 HLA-DQB1
5
Tuberculosis 36
11.77 HLA-DRB1 HLA-DQB1
6
CD28 co-stimulation 65
Show member pathways
 11.73 HLA-DRB1 HLA-DQB1
7
Phagosome 36
11.66 HLA-DRB1 HLA-DQB1
8
Cell adhesion molecules (CAMs) 36
11.6 HLA-DRB1 HLA-DQB1
9
S-1P Stimulated Signaling 63
11.44 HLA-DRB1 HLA-DQB1
10
Translocation of ZAP-70 to Immunological synapse 65
Show member pathways
 11.44 HLA-DRB1 HLA-DQB1
11
MHC class II antigen presentation 65
11.38 HLA-DRB1 HLA-DQB1
12
Hematopoietic cell lineage 36
11.32 HLA-DRB1 HLA-DQB1
13
Staphylococcus aureus infection 36
11.24 HLA-DRB1 HLA-DQB1
14
Rheumatoid arthritis 36
11.12 HLA-DRB1 HLA-DQB1
15
CTLA4 Signaling 63
10.81 HLA-DRB1 HLA-DQB1
16
G-protein signaling N-RAS regulation pathway 22
Show member pathways
 10.58 HLA-DRB1 HLA-DQB1
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GO Terms for Autoimmune Polyglandular Syndrome Type 3

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Cellular components related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 9.43 HLA-DRB1 HLA-DQB1
2 trans-Golgi network membrane GO:0032588 9.4 HLA-DRB1 HLA-DQB1
3 endocytic vesicle membrane GO:0030666 9.37 HLA-DRB1 HLA-DQB1
4 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DRB1 HLA-DQB1
5 transport vesicle membrane GO:0030658 9.26 HLA-DRB1 HLA-DQB1
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DRB1 HLA-DQB1
7 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DRB1 HLA-DQB1
8 MHC class II protein complex GO:0042613 8.62 HLA-DRB1 HLA-DQB1

Biological processes related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.4 HLA-DRB1 HLA-DQB1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.37 HLA-DRB1 HLA-DQB1
3 interferon-gamma-mediated signaling pathway GO:0060333 9.32 HLA-DRB1 HLA-DQB1
4 antigen processing and presentation GO:0019882 9.26 HLA-DRB1 HLA-DQB1
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.16 HLA-DRB1 HLA-DQB1
6 humoral immune response mediated by circulating immunoglobulin GO:0002455 8.96 HLA-DRB1 HLA-DQB1
7 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 8.62 HLA-DRB1 HLA-DQB1

Molecular functions related to Autoimmune Polyglandular Syndrome Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.96 HLA-DRB1 HLA-DQB1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DRB1 HLA-DQB1
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Sources for Autoimmune Polyglandular Syndrome Type 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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