Autoimmune Polyglandular Syndrome Type 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

APS3 MCID: ATM061 MIFTS: 29	Autoimmune Polyglandular Syndrome Type 3 (APS3) Categories: Endocrine diseases, Rare diseases
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Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 3

MalaCards integrated aliases for Autoimmune Polyglandular Syndrome Type 3:

Name: Autoimmune Polyglandular Syndrome Type 3 ⁵³

Autoimmune Polyendocrine Syndrome Type 3 ⁵³ ⁷²

Autoimmune Polyglandular Syndrome Type Iii ⁵³

Polyglandular Type Iii Autoimmune Syndrome ⁷²

Polyglandular Autoimmune Syndrome Type 3 ⁵³

Pga-Iii ⁵³

Aps3 ⁵³

Pas3 ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷² C1535942 C3266027

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Summaries for Autoimmune Polyglandular Syndrome Type 3

NIH Rare Diseases : ⁵³ 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 diabetes mellitus, insulin-dependent and autoimmune 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 Interferon gamma signaling and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include thyroid, adrenal gland and cortex.

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Related Diseases for Autoimmune Polyglandular Syndrome Type 3

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

(show top 50) (show all 110)

#	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus, insulin-dependent	29.1	HLA-DRB1 HLA-DQB1
2	autoimmune disease	28.8	HLA-DRB1 HLA-DQB1
3	autoimmune polyendocrinopathy type 3	11.5
4	thyroiditis	10.5
5	hashimoto thyroiditis	10.3
6	hypothyroidism	10.3
7	alopecia	10.3
8	schizophrenia	10.3
9	cryptococcosis	10.3
10	autoimmune polyendocrine syndrome	10.2
11	celiac disease 1	10.2
12	pernicious anemia	10.2
13	myasthenia gravis	10.2
14	graves' disease	10.2
15	growth hormone deficiency	10.2
16	dermatitis herpetiformis, familial	10.1
17	hypoparathyroidism	10.1
18	conn's syndrome	10.1
19	dermatitis	10.1
20	dermatitis herpetiformis	10.1
21	atrial standstill 1	10.1
22	sarcoidosis 1	10.1
23	hypoadrenocorticism, familial	10.1
24	leukemia, acute myeloid	10.1
25	cholangitis, primary sclerosing	10.1
26	colitis	10.1
27	dilated cardiomyopathy	10.1
28	uveitis	10.1
29	diarrhea	10.1
30	sclerosing cholangitis	10.1
31	urticaria	10.1
32	hypogonadism	10.1
33	liver disease	10.1
34	intestinal disease	10.1
35	hypogonadotropism	10.1
36	myeloid leukemia	10.1
37	crohn's disease	10.1
38	cholangitis	10.1
39	lymphangiectasis	10.1
40	hematopoietic stem cell transplantation	10.1
41	autoimmune addison disease	10.0	HLA-DRB1 CYP21A2
42	thrombocytopenic purpura, autoimmune	10.0
43	vitiligo-associated multiple autoimmune disease susceptibility 6	10.0
44	alopecia universalis congenita	10.0
45	graves disease 1	10.0
46	ataxia and polyneuropathy, adult-onset	10.0
47	vitiligo-associated multiple autoimmune disease susceptibility 1	10.0
48	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.0
49	autoimmune gastritis	10.0
50	cutaneous lupus erythematosus	10.0

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

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Symptoms & Phenotypes for Autoimmune Polyglandular Syndrome Type 3

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Drugs & Therapeutics for Autoimmune Polyglandular Syndrome Type 3

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

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

⁴¹

Thyroid, Adrenal Gland, Cortex, Adrenal Cortex

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Publications for Autoimmune Polyglandular Syndrome Type 3

Articles related to Autoimmune Polyglandular Syndrome Type 3:

(show all 32)

#	Title	Authors	PMID	Year
1	Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. ³⁸	Koykka H...Kluger N	30924131	2019
2	Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant. ³⁸	Grubic Z...Dumic M	29958949	2018
3	Diabetes mellitus and thyroid diseases. ³⁸	Nishi M	30603357	2018
4	Epidemiological and clinical peculiarities of polyglandular syndrome type 3 in pediatric age. ³⁸	Valenzise M...Salzano G	28784159	2017
5	Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI). ³⁸	Szlendak-Sauer K...Smolarczyk R	27240263	2016
6	Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population. ³⁸	Zhao Z...Liu Y	27427767	2016
7	Association Studies of the GPR103 and BCL2L15 Genes in Autoimmune Thyroid Disease in the Japanese Population. ³⁸	Ban Y...Nakano Y	27486433	2016
8	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. ³⁸	Tomer Y...SEARCH for Diabetes in Youth Study	25936594	2015
9	Dissecting the role of the FOXP3 gene in the joint genetic susceptibility to autoimmune thyroiditis and diabetes: a genetic and functional analysis. ³⁸	Li CW...Tomer Y	25481456	2015
10	Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. ³⁸	Benedini S...Corbetta S	25821607	2015
11	[Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus]. ³⁸	Krysiak R...Okopien B	26181158	2015
12	Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3. ³⁸	Makino S...Fujiwara M	25759758	2015
13	Late primary autoimmune hypothyroidism in a patient with postdelivery autoimmune hypopituitarism associated with antibodies to growth hormone and prolactin-secreting cells. ³⁸	De Bellis A...Holdaway I	23286389	2013
14	[Progression of right internal carotid artery stenosis in ischemic stroke patient with autoimmune polyglandular syndrome: A case report]. ³⁸	Kanazawa Y...Kitazono T	23892964	2013
15	Simultaneous occurrence of type 1 diabetes mellitus and Graves' disease: a report of two cases and a review of the literature. ³⁸	Mizokami T...Nunoi K	24240794	2013
16	Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. ³⁸	Horie I...Kawakami A	22466347	2012
17	Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. ³⁸	Krysiak R...Okopien B	22635089	2012
18	[Detection of thyroid antibodies in children with type 1 diabetes mellitus]. ³⁸	Wang XM...Liang L	22289750	2012
19	Autoimmune polyglandular syndrome type 3 with anorexia. ³⁸	Kahara T...Noda Y	23304573	2012
20	[Autoimmune polyendocrine syndrome type 3 in a patient after surgical treatment of Cushing syndrome]. ³⁸	Krysiak R...Okopien B	22335143	2011
21	[A case of autoimmune polyglandular syndrome-related Parkinsonian syndrome that required differentiation from multiple system atrophy]. ³⁸	Kobayashi M...Saito K	21061549	2010
22	Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. ³⁸	Yanai H...Kunimatsu J	21537439	2010
23	Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. ³⁸	Quintos JB...Salas M	19968812	2010
24	Shared molecular amino acid signature in the HLA-DR peptide binding pocket predisposes to both autoimmune diabetes and thyroiditis. ³⁸	Menconi F...Tomer Y	20837527	2010
25	Genetics of the autoimmune polyglandular syndrome type 3 variant. ³⁸	Dittmar M...Kahaly GJ	20578896	2010
26	Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families. ³⁸	Villano MJ...Tomer Y	19141582	2009
27	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. ³⁸	Sheehan MT...Islam R	19289325	2009
28	Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. ³⁸	Huber A...Tomer Y	18776148	2008
29	Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. ³⁸	Elefsiniotis IS...Moulakakis A	18580728	2008
30	[Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. ³⁸	Lubinska M...Sworczak K	18335399	2008
31	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. ³⁸	Lubinska M...Sworczak K	17880463	2007
32	A rare case of autoimmune polyglandular syndrome type 3. ³⁸	Shimomura H...Nanjo K	12951278	2003

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Genes for Autoimmune Polyglandular Syndrome Type 3

Genes related to Autoimmune Polyglandular Syndrome Type 3 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	17.3	GeneCards inferred via : Publications (show sections)
2	HLA-DQB1	Major Histocompatibility Complex, Class II, DQ Beta 1	Protein Coding	17.3	GeneCards inferred via : Publications (show sections)
3	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	17.3	GeneCards inferred via : Publications (show sections)

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Variations for Autoimmune Polyglandular Syndrome Type 3

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Expression for Autoimmune Polyglandular Syndrome Type 3

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

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Pathways for Autoimmune Polyglandular Syndrome Type 3

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

(show all 18)

#	Super pathways	Score	Top Affiliating Genes
1	Interferon gamma signaling ⁶⁶ Show member pathways Interferon Signaling ⁶⁶ Regulation of IFNG signaling ⁶⁶	12.07	HLA-DRB1 HLA-DQB1
2	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	11.94	HLA-DRB1 HLA-DQB1
3	Human T-cell leukemia virus 1 infection ³⁷	11.91	HLA-DRB1 HLA-DQB1
4	TCR signaling (REACTOME) ⁶⁶ Show member pathways TCR signaling ⁶⁶	11.9	HLA-DRB1 HLA-DQB1
5	Toxoplasmosis ³⁷ Show member pathways Leishmaniasis ³⁷	11.81	HLA-DRB1 HLA-DQB1
6	Tuberculosis ³⁷	11.75	HLA-DRB1 HLA-DQB1
7	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ VEGFR2 mediated vascular permeability ⁶⁶	11.72	HLA-DRB1 HLA-DQB1
8	Phagosome ³⁷	11.64	HLA-DRB1 HLA-DQB1
9	Cell adhesion molecules (CAMs) ³⁷	11.57	HLA-DRB1 HLA-DQB1
10	G-protein signaling N-RAS regulation pathway ²² Show member pathways Immune response Antigen presentation by MHC class II ²²	11.48	HLA-DRB1 HLA-DQB1
11	S-1P Stimulated Signaling ⁶⁴	11.42	HLA-DRB1 HLA-DQB1
12	Translocation of ZAP-70 to Immunological synapse ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶ Phosphorylation of CD3 and TCR zeta chains ⁶⁶	11.41	HLA-DRB1 HLA-DQB1
13	MHC class II antigen presentation ⁶⁶	11.33	HLA-DRB1 HLA-DQB1
14	Hematopoietic cell lineage ³⁷	11.24	HLA-DRB1 HLA-DQB1
15	Rheumatoid arthritis ³⁷	11.12	HLA-DRB1 HLA-DQB1
16	DNA damage_Role of Brca1 and Brca2 in DNA repair ²²	11.11	HLA-DRB1 HLA-DQB1
17	CTLA4 Signaling ⁶⁴	10.81	HLA-DRB1 HLA-DQB1
18	Staphylococcus aureus infection ³⁷	10.61	HLA-DRB1 HLA-DQB1

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GO Terms for Autoimmune Polyglandular Syndrome Type 3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal membrane	GO:0005765	9.46	HLA-DRB1 HLA-DQB1
2	endosome membrane	GO:0010008	9.43	HLA-DRB1 HLA-DQB1
3	trans-Golgi network membrane	GO:0032588	9.4	HLA-DRB1 HLA-DQB1
4	endocytic vesicle membrane	GO:0030666	9.37	HLA-DRB1 HLA-DQB1
5	ER to Golgi transport vesicle membrane	GO:0012507	9.32	HLA-DRB1 HLA-DQB1
6	transport vesicle membrane	GO:0030658	9.26	HLA-DRB1 HLA-DQB1
7	clathrin-coated endocytic vesicle membrane	GO:0030669	9.16	HLA-DRB1 HLA-DQB1
8	integral component of lumenal side of endoplasmic reticulum membrane	GO:0071556	8.96	HLA-DRB1 HLA-DQB1
9	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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Autoimmune Polyglandular Syndrome Type 3 (APS3)

Aliases & Classifications for Autoimmune Polyglandular Syndrome Type 3

MalaCards integrated aliases for Autoimmune Polyglandular Syndrome Type 3:

Classifications:

External Ids:

Summaries for Autoimmune Polyglandular Syndrome Type 3

Related Diseases for Autoimmune Polyglandular Syndrome Type 3

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

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

Symptoms & Phenotypes for Autoimmune Polyglandular Syndrome Type 3

Drugs & Therapeutics for Autoimmune Polyglandular Syndrome Type 3

Genetic Tests for Autoimmune Polyglandular Syndrome Type 3

Anatomical Context for Autoimmune Polyglandular Syndrome Type 3

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

Publications for Autoimmune Polyglandular Syndrome Type 3

Articles related to Autoimmune Polyglandular Syndrome Type 3:

Genes for Autoimmune Polyglandular Syndrome Type 3

Genes related to Autoimmune Polyglandular Syndrome Type 3 (0 elite genes):

Variations for Autoimmune Polyglandular Syndrome Type 3

Expression for Autoimmune Polyglandular Syndrome Type 3

Pathways for Autoimmune Polyglandular Syndrome Type 3

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

GO Terms for Autoimmune Polyglandular Syndrome Type 3

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

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

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

Sources for Autoimmune Polyglandular Syndrome Type 3