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

APS3 MCID: ATM061 MIFTS: 28	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 ²⁰

Autoimmune Polyendocrine Syndrome Type 3 ²⁰ ⁷⁰

Autoimmune Polyglandular Syndrome Type Iii ²⁰

Polyglandular Type Iii Autoimmune Syndrome ⁷⁰

Polyglandular Autoimmune Syndrome Type 3 ²⁰

Pga-Iii ²⁰

Aps3 ²⁰

Pas3 ²⁰

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁰ C1535942 C3266027

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Summaries for Autoimmune Polyglandular Syndrome Type 3

GARD : ²⁰ 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 alopecia areata 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. Affiliated tissues include cortex, adrenal gland and adrenal cortex, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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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 160)

#	Related Disease	Score	Top Affiliating Genes
1	alopecia areata	30.0	HLA-DRB1 HLA-DQB1
2	graves' disease	30.0	HLA-DRB1 HLA-DQB1
3	primary adrenal insufficiency	30.0	HLA-DRB1 HLA-DQB1
4	autoimmune gastritis	29.9	HLA-DRB1 HLA-DQB1
5	sclerosing cholangitis	29.9	HLA-DRB1 HLA-DQB1
6	celiac disease 1	29.7	HLA-DRB1 HLA-DQB1 CYP21A2
7	sarcoidosis 1	29.7	HLA-DRB1 HLA-DQB1
8	autoimmune polyendocrinopathy type 3	11.4
9	thyroiditis	10.5
10	alopecia	10.4
11	autoimmune polyendocrine syndrome	10.4
12	hashimoto thyroiditis	10.4
13	myasthenia gravis	10.4
14	hypothyroidism	10.4
15	pernicious anemia	10.3
16	type 1 diabetes mellitus	10.3
17	growth hormone deficiency	10.3
18	autoimmune disease	10.3
19	hypoadrenocorticism, familial	10.3
20	vitiligo-associated multiple autoimmune disease susceptibility 6	10.2
21	vitiligo-associated multiple autoimmune disease susceptibility 1	10.2
22	gastritis	10.2
23	atrophic gastritis	10.2
24	dermatitis herpetiformis, familial	10.1
25	conn's syndrome	10.1
26	dermatitis	10.1
27	dermatitis herpetiformis	10.1
28	diabetes mellitus	10.1
29	encephalitis	10.1
30	lymphomatous thyroiditis	10.1
31	atrial standstill 1	10.1
32	leukemia, acute myeloid	10.1
33	cholangitis, primary sclerosing	10.1
34	dilated cardiomyopathy	10.1
35	crescentic glomerulonephritis	10.1
36	uveitis	10.1
37	hyperparathyroidism	10.1
38	adult-onset still's disease	10.1
39	urticaria	10.1
40	hypogonadism	10.1
41	glomerulonephritis	10.1
42	intestinal disease	10.1
43	vasculitis	10.1
44	myeloid leukemia	10.1
45	crohn's disease	10.1
46	cholangitis	10.1
47	lymphangiectasis	10.1
48	rheumatoid arthritis	10.1
49	thrombocytopenic purpura, autoimmune	10.1
50	alopecia universalis congenita	10.1

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

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

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-128	8.8	HLA-DRB1
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	8.8	HLA-DRB1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-80	8.8	HLA-DRB1

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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:

⁴⁰

Cortex, Adrenal Gland, Adrenal Cortex, Myeloid, Heart, Thyroid

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Publications for Autoimmune Polyglandular Syndrome Type 3

Articles related to Autoimmune Polyglandular Syndrome Type 3:

(show all 39)

#	Title	Authors	PMID	Year
1	Case of autoimmune polyendocrine syndrome type 3 complicated with anti-N-methyl-D-aspartic acid-receptor encephalitis. ⁶¹	Kurozumi A...Tanaka Y	32603545	2021
2	A rare case of coexistence of autoimmune polyglandular syndrome type 3 with growth hormone deficiency and hyperthyroidism in a patient with pseudo-Turner's syndrome. ⁶¹	Zhou W...Ning J	33045897	2020
3	Levothyroxine and insulin requirement in autoimmune polyglandular type 3 syndrome: a real-life study. ⁶¹	Guarnotta V...Giordano C	33099763	2020
4	A Patient with Fulminant Myasthenia Gravis Is Seropositive for Both AChR and LRP4 Antibodies, Complicated by Autoimmune Polyglandular Syndrome Type 3. ⁶¹	Inoue H...Matsukawa N	32461531	2020
5	Alopecia areata with autoimmune polyglandular syndrome type 3 showing type 1/Tc1 immunological inflammation. ⁶¹	Hanai S...Tokura Y	32969803	2020
6	Autoimmune polyglandular syndrome type 3 variant in rheumatoid arthritis. ⁶¹	Horino T...Terada Y	31756165	2020
7	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	Gobaru M...Nomura M	31745069	2019
8	Dermatitis herpetiformis arising within vitiligo in a patient with autoimmune polyendocrine syndrome type 3. ⁶¹	Koykka H...Kluger N	30924131	2019
9	Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant. ⁶¹	Grubic Z...Dumic M	29958949	2018
10	Diabetes mellitus and thyroid diseases. ⁶¹	Nishi M	30603357	2018
11	Epidemiological and clinical peculiarities of polyglandular syndrome type 3 in pediatric age. ⁶¹	Valenzise M...Salzano G	28784159	2017
12	Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI). ⁶¹	Szlendak-Sauer K...Smolarczyk R	27240263	2016
13	Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population. ⁶¹	Zhao Z...Liu Y	27427767	2016
14	Association Studies of the GPR103 and BCL2L15 Genes in Autoimmune Thyroid Disease in the Japanese Population. ⁶¹	Ban Y...Nakano Y	27486433	2016
15	Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. ⁶¹	Tomer Y...SEARCH for Diabetes in Youth Study	25936594	2015
16	Dissecting the role of the FOXP3 gene in the joint genetic susceptibility to autoimmune thyroiditis and diabetes: a genetic and functional analysis. ⁶¹	Li CW...Tomer Y	25481456	2015
17	Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. ⁶¹	Benedini S...Corbetta S	25821607	2015
18	Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3. ⁶¹	Makino S...Fujiwara M	25759758	2015
19	[Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus]. ⁶¹	Krysiak R...Okopien B	26181158	2015
20	Late primary autoimmune hypothyroidism in a patient with postdelivery autoimmune hypopituitarism associated with antibodies to growth hormone and prolactin-secreting cells. ⁶¹	De Bellis A...Holdaway I	23286389	2013
21	[Progression of right internal carotid artery stenosis in ischemic stroke patient with autoimmune polyglandular syndrome: A case report]. ⁶¹	Kanazawa Y...Kitazono T	23892964	2013
22	Simultaneous occurrence of type 1 diabetes mellitus and Graves' disease: a report of two cases and a review of the literature. ⁶¹	Mizokami T...Nunoi K	24240794	2013
23	Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. ⁶¹	Horie I...Kawakami A	22466347	2012
24	Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. ⁶¹	Krysiak R...Okopien B	22635089	2012
25	[Detection of thyroid antibodies in children with type 1 diabetes mellitus]. ⁶¹	Wang XM...Liang L	22289750	2012
26	Autoimmune polyglandular syndrome type 3 with anorexia. ⁶¹	Kahara T...Noda Y	23304573	2012
27	[Autoimmune polyendocrine syndrome type 3 in a patient after surgical treatment of Cushing syndrome]. ⁶¹	Krysiak R...Okopien B	22335143	2011
28	[A case of autoimmune polyglandular syndrome-related Parkinsonian syndrome that required differentiation from multiple system atrophy]. ⁶¹	Kobayashi M...Saito K	21061549	2010
29	Shared molecular amino acid signature in the HLA-DR peptide binding pocket predisposes to both autoimmune diabetes and thyroiditis. ⁶¹	Menconi F...Tomer Y	20837527	2010
30	Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. ⁶¹	Quintos JB...Salas M	19968812	2010
31	Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. ⁶¹	Yanai H...Kunimatsu J	21537439	2010
32	Genetics of the autoimmune polyglandular syndrome type 3 variant. ⁶¹	Dittmar M...Kahaly GJ	20578896	2010
33	Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families. ⁶¹	Villano MJ...Tomer Y	19141582	2009
34	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	Sheehan MT...Islam R	19289325	2009
35	Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. ⁶¹	Huber A...Tomer Y	18776148	2008
36	Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. ⁶¹	Elefsiniotis IS...Moulakakis A	18580728	2008
37	[Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. ⁶¹	Lubinska M...Sworczak K	18335399	2008
38	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	Lubinska M...Sworczak K	17880463	2007
39	A rare case of autoimmune polyglandular syndrome type 3. ⁶¹	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	7.2	GeneCards inferred via : Publications (show sections)
2	HLA-DQB1	Major Histocompatibility Complex, Class II, DQ Beta 1	Protein Coding	7.2	GeneCards inferred via : Publications (show sections)
3	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	7.2	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 16)

#	Super pathways	Score	Top Affiliating Genes
1	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	11.94	HLA-DRB1 HLA-DQB1
2	TCR signaling ⁶⁵ Show member pathways Downstream TCR signaling ⁶⁵	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 Leishmaniasis ³⁶	11.8	HLA-DRB1 HLA-DQB1
5	Tuberculosis ³⁶	11.77	HLA-DRB1 HLA-DQB1
6	CD28 co-stimulation ⁶⁵ Show member pathways Activation of AKT2 ⁶⁵ CD28 dependent PI3K/Akt signaling ⁶⁵ CD28 dependent Vav1 pathway ⁶⁵ Costimulation by the CD28 family ⁶⁵ VEGFR2 mediated vascular permeability ⁶⁵	11.73	HLA-DRB1 HLA-DQB1
7	Phagosome ³⁶	11.66	HLA-DRB1 HLA-DQB1
8	Cell adhesion molecules ³⁶	11.61	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 Generation of second messenger molecules ⁶⁵ PD-1 signaling ⁶⁵ Phosphorylation of CD3 and TCR zeta chains ⁶⁵	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 ²³ Show member pathways Immune response Antigen presentation by MHC class II ²³	10.58	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	trans-Golgi network membrane	GO:0032588	9.4	HLA-DRB1 HLA-DQB1
2	endocytic vesicle membrane	GO:0030666	9.37	HLA-DRB1 HLA-DQB1
3	ER to Golgi transport vesicle membrane	GO:0012507	9.32	HLA-DRB1 HLA-DQB1
4	transport vesicle membrane	GO:0030658	9.26	HLA-DRB1 HLA-DQB1
5	clathrin-coated endocytic vesicle membrane	GO:0030669	9.16	HLA-DRB1 HLA-DQB1
6	integral component of lumenal side of endoplasmic reticulum membrane	GO:0071556	8.96	HLA-DRB1 HLA-DQB1
7	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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¹⁶ DrugBank

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²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

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³⁶ KEGG

³⁷ LifeMap

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⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

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

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