Autoimmune Polyglandular Syndrome Type 3

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UMLS 74 C1535942 C3266027

NIH Rare Diseases : ⁵⁴ 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 autoimmune disease and autoimmune polyendocrinopathy type 3. An important gene associated with Autoimmune Polyglandular Syndrome Type 3 is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are Interferon gamma signaling and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include thyroid, cortex and adrenal cortex, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.5	CYP21A2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.5	CYP21A2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.5	HLA-DRB1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-128	9.5	HLA-DRB1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	9.5	HLA-DRB1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.5	CYP21A2
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.5	HLA-DRB1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.5	HLA-DRB1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	9.5	CYP21A2 HLA-DRB1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	9.5	HLA-DRB1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.5	CYP21A2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.5	CYP21A2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-8	9.5	CYP21A2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	9.5	HLA-DRB1

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

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