APS3
MCID: ATM067
MIFTS: 27

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 59
Autoimmune Polyendocrine Syndrome Type 3 59 73
Polyglandular Type Iii Autoimmune Syndrome 73
Autoimmune Polyglandular Syndrome Type 3 59
Aps Type 3 59
Aps3 59

Characteristics:

Orphanet epidemiological data:

59
autoimmune polyendocrinopathy type 3
Inheritance: Multigenic/multifactorial; Age of onset: All ages;

Classifications:

Orphanet: 59  
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 osteopenia and type i diabetes mellitus

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 10.0
6 myasthenia gravis congenital 10.0
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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 very rare (1%) Very rare (<4-1%) HP:0000938
2 type i diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0100651
3 hepatitis 59 32 very rare (1%) Very rare (<4-1%) HP:0012115
4 abnormal blistering of the skin 59 32 very rare (1%) Very rare (<4-1%) HP:0008066
5 hashimoto thyroiditis 59 32 frequent (33%) Frequent (79-30%) HP:0000872
6 vitiligo 59 32 occasional (7.5%) Occasional (29-5%) HP:0001045
7 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
8 celiac disease 59 32 frequent (33%) Frequent (79-30%) HP:0002608
9 biliary cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002613
10 decreased antibody level in blood 59 32 occasional (7.5%) Occasional (29-5%) HP:0004313
11 keratoconjunctivitis sicca 59 32 very rare (1%) Very rare (<4-1%) HP:0001097
12 hypergonadotropic hypogonadism 59 32 very rare (1%) Very rare (<4-1%) HP:0000815
13 xerostomia 59 32 very rare (1%) Very rare (<4-1%) HP:0000217
14 thymoma 59 32 very rare (1%) Very rare (<4-1%) HP:0100522
15 chronic atrophic gastritis 59 32 frequent (33%) Frequent (79-30%) HP:0002582
16 macrocytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001972
17 leukopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001882
18 interstitial pulmonary abnormality 59 32 very rare (1%) Very rare (<4-1%) HP:0006530
19 rheumatoid arthritis 59 32 very rare (1%) Very rare (<4-1%) HP:0001370
20 tubulointerstitial nephritis 59 32 very rare (1%) Very rare (<4-1%) HP:0001970
21 autoimmune thrombocytopenia 59 32 very rare (1%) Very rare (<4-1%) HP:0001973
22 graves disease 59 32 frequent (33%) Frequent (79-30%) HP:0100647
23 central diabetes insipidus 59 32 very rare (1%) Very rare (<4-1%) HP:0000863
24 antiphospholipid antibody positivity 59 32 very rare (1%) Very rare (<4-1%) HP:0003613
25 anterior pituitary dysgenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010625
26 iridocyclitis 59 32 very rare (1%) Very rare (<4-1%) HP:0001094
27 aplasia/hypoplasia of the spleen 59 32 very rare (1%) Very rare (<4-1%) HP:0010451
28 non-caseating epithelioid cell granulomatosis 59 32 very rare (1%) Very rare (<4-1%) HP:0012220
29 autoimmune hypoparathyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0011771
30 autoimmunity 59 Obligate (100%)
31 primary adrenal insufficiency 59 Excluded (0%)
32 autoimmune antibody positivity 59 Frequent (79-30%)
33 chronic mucocutaneous candidiasis 59 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:

41
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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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