APS3
MCID: ATM067
MIFTS: 26

Autoimmune Polyendocrinopathy Type 3 (APS3)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Autoimmune Polyendocrinopathy Type 3

MalaCards integrated aliases for Autoimmune Polyendocrinopathy Type 3:

Name: Autoimmune Polyendocrinopathy Type 3 60
Autoimmune Polyendocrine Syndrome Type 3 60 74
Polyglandular Type Iii Autoimmune Syndrome 74
Autoimmune Polyglandular Syndrome Type 3 60
Aps Type 3 60
Aps3 60

Characteristics:

Orphanet epidemiological data:

60
autoimmune polyendocrinopathy type 3
Inheritance: Multigenic/multifactorial; Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Autoimmune Polyendocrinopathy Type 3

MalaCards based summary : Autoimmune Polyendocrinopathy Type 3, also known as autoimmune polyendocrine syndrome type 3, is related to autoimmune polyglandular syndrome type 3 and alopecia. Affiliated tissues include thyroid, skin and spleen, and related phenotypes are type i diabetes mellitus and hashimoto thyroiditis

Related Diseases for Autoimmune Polyendocrinopathy Type 3

Diseases in the Autoimmune Polyendocrinopathy Type 3 family:

Autoimmune Polyendocrinopathy Type 4

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyglandular syndrome type 3 12.7
2 alopecia 10.2
3 hypothyroidism 10.2
4 growth hormone deficiency 10.2
5 myasthenia gravis 10.1
6 myasthenia gravis congenital 10.1
7 alopecia universalis congenita 10.0
8 ulcerative colitis 10.0
9 colitis 10.0
10 von willebrand's disease 10.0
11 thyroiditis 10.0
12 alopecia areata 10.0

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



Diseases related to Autoimmune Polyendocrinopathy Type 3

Symptoms & Phenotypes for Autoimmune Polyendocrinopathy Type 3

Human phenotypes related to Autoimmune Polyendocrinopathy Type 3:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type i diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0100651
2 hashimoto thyroiditis 60 33 frequent (33%) Frequent (79-30%) HP:0000872
3 celiac disease 60 33 frequent (33%) Frequent (79-30%) HP:0002608
4 chronic atrophic gastritis 60 33 frequent (33%) Frequent (79-30%) HP:0002582
5 macrocytic anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001972
6 graves disease 60 33 frequent (33%) Frequent (79-30%) HP:0100647
7 vitiligo 60 33 occasional (7.5%) Occasional (29-5%) HP:0001045
8 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
9 biliary cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002613
10 decreased antibody level in blood 60 33 occasional (7.5%) Occasional (29-5%) HP:0004313
11 leukopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001882
12 anterior pituitary dysgenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0010625
13 osteopenia 60 33 very rare (1%) Very rare (<4-1%) HP:0000938
14 hepatitis 60 33 very rare (1%) Very rare (<4-1%) HP:0012115
15 abnormal blistering of the skin 60 33 very rare (1%) Very rare (<4-1%) HP:0008066
16 keratoconjunctivitis sicca 60 33 very rare (1%) Very rare (<4-1%) HP:0001097
17 hypergonadotropic hypogonadism 60 33 very rare (1%) Very rare (<4-1%) HP:0000815
18 xerostomia 60 33 very rare (1%) Very rare (<4-1%) HP:0000217
19 thymoma 60 33 very rare (1%) Very rare (<4-1%) HP:0100522
20 interstitial pulmonary abnormality 60 33 very rare (1%) Very rare (<4-1%) HP:0006530
21 rheumatoid arthritis 60 33 very rare (1%) Very rare (<4-1%) HP:0001370
22 tubulointerstitial nephritis 60 33 very rare (1%) Very rare (<4-1%) HP:0001970
23 autoimmune thrombocytopenia 60 33 very rare (1%) Very rare (<4-1%) HP:0001973
24 central diabetes insipidus 60 33 very rare (1%) Very rare (<4-1%) HP:0000863
25 antiphospholipid antibody positivity 60 33 very rare (1%) Very rare (<4-1%) HP:0003613
26 iridocyclitis 60 33 very rare (1%) Very rare (<4-1%) HP:0001094
27 aplasia/hypoplasia of the spleen 60 33 very rare (1%) Very rare (<4-1%) HP:0010451
28 non-caseating epithelioid cell granulomatosis 60 33 very rare (1%) Very rare (<4-1%) HP:0012220
29 autoimmune hypoparathyroidism 60 33 very rare (1%) Very rare (<4-1%) HP:0011771
30 autoimmunity 60 Obligate (100%)
31 primary adrenal insufficiency 60 Excluded (0%)
32 autoimmune antibody positivity 60 Frequent (79-30%)
33 chronic mucocutaneous candidiasis 60 Excluded (0%)

Drugs & Therapeutics for Autoimmune Polyendocrinopathy Type 3

Search Clinical Trials , NIH Clinical Center for Autoimmune Polyendocrinopathy Type 3

Genetic Tests for Autoimmune Polyendocrinopathy Type 3

Anatomical Context for Autoimmune Polyendocrinopathy Type 3

MalaCards organs/tissues related to Autoimmune Polyendocrinopathy Type 3:

42
Thyroid, Skin, Spleen, Pituitary

Publications for Autoimmune Polyendocrinopathy Type 3

Articles related to Autoimmune Polyendocrinopathy Type 3:

(show all 15)
# Title Authors Year
1
Human Leukocyte Antigen class II polymorphisms among Croatian patients with type 1 diabetes and autoimmune polyglandular syndrome type 3 variant. ( 29958949 )
2018
2
Autoimmune polyglandular syndrome type 3 (APS-3) among patients with premature ovarian insufficiency (POI). ( 27240263 )
2016
3
Recovery from alopecia areata in a patient with autoimmune polyglandular syndrome type 3. ( 25759758 )
2015
4
Infantile anti-MuSK positive myasthenia gravis in a patient with autoimmune polyendocrinopathy type 3. ( 24685514 )
2014
5
Coexistence of growth hormone deficiency and autoimmune polyglandular syndrome type 3. ( 22635089 )
2012
6
Autoimmune polyglandular syndrome type 3 with anorexia. ( 23304573 )
2012
7
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. ( 22466347 )
2012
8
Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency. ( 19968812 )
2010
9
Genetics of the autoimmune polyglandular syndrome type 3 variant. ( 20578896 )
2010
10
Autoimmune polyglandular syndrome type 3 complicated by mineralocorticoid-responsive hyponatremia of the elderly. ( 21537439 )
2010
11
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. ( 19289325 )
2009
12
[Acquired von Willebrand's disease in the course of severe primary hypothyroidism in a patient with autoimmune polyglandular syndrome type 3]. ( 18335399 )
2008
13
Atypical autoimmune polyglandular syndrome type 3 overlapped by chronic HCV infection resulting in carcinogenesis and fatal infection. ( 18580728 )
2008
14
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. ( 17880463 )
2007
15
A rare case of autoimmune polyglandular syndrome type 3. ( 12951278 )
2003

Variations for Autoimmune Polyendocrinopathy Type 3

Expression for Autoimmune Polyendocrinopathy Type 3

Search GEO for disease gene expression data for Autoimmune Polyendocrinopathy Type 3.

Pathways for Autoimmune Polyendocrinopathy Type 3

GO Terms for Autoimmune Polyendocrinopathy Type 3

Sources for Autoimmune Polyendocrinopathy Type 3

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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