MCID: ATM019
MIFTS: 40

Autoimmune Polyendocrine Syndrome malady

Genetic diseases, Endocrine diseases, Rare diseases categories

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

About this section
Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 25ICD10
See all sources

Autoimmune Polyendocrine Syndrome, Aliases & Descriptions:

Name: Autoimmune Polyendocrine Syndrome 9 11
Polyendocrinopathies, Autoimmune 60
Autoimmune Polyglandular Failure 9
 
Polyendocrinopathies Autoimmune 43
Autoimmune Polyendocrinopathy 9
Lloyd's Syndrome 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


External Ids:

Disease Ontology9 DOID:14040
MeSH33 D016884
NCIt38 C84576
ICD1025 E31.0

Summaries for Autoimmune Polyendocrine Syndrome

About this section


Disease Ontology:9 An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

MalaCards based summary: Autoimmune Polyendocrine Syndrome, also known as polyendocrinopathies, autoimmune, is related to autoimmune polyendocrine syndrome type 1 and addison's disease. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (autoimmune regulator). The compounds metyrapone and clomiphene citrate have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testis, and related mouse phenotypes are renal/urinary system and behavior/neurological.

Wikipedia:63 In medicine, autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndrome (PGAS),... more...

Related Diseases for Autoimmune Polyendocrine Syndrome

About this section

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome Type 1 Autoimmune Polyendocrine Syndrome Type 2

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome type 131.1CASR, TPH1, CYP21A2, AIRE
2addison's disease31.0AIRE, CYP21A2, TPH1
3alopecia30.9AIRE
4hypoparathyroidism30.8AIRE, CASR
5hypopituitarism30.5CYP21A2, INS
6hypothyroidism30.1AIRE, INS, CASR
7autoimmune polyendocrine syndrome type 210.7
8hepatitis10.6
9parathyroid gland disease10.4AIRE
10autoimmune hepatitis10.4
11autoimmune polyglandular syndrome type 310.4
12androgen insensitivity, partial, with or without breast cancer10.4
13chronic mucocutaneous candidiasis10.4
14candidiasis10.4
15psoriasis10.4
16thyroiditis10.4
17autoimmune polyglandular syndrome type 210.4
18autoimmune polyendocrinopathy type 410.4
19immunodysregulation, polyendocrinopathy, and enteropathy, x-linked10.2
20systemic lupus erythematosus10.2
21hepatocellular carcinoma10.2
22hepatitis c virus10.2
23cerebellar ataxia10.2
24autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
25acute leukemia10.2
26leukemia10.2
27primary biliary cirrhosis10.2
28hepatitis c10.2
29neuronitis10.2
30peripartum cardiomyopathy10.2
31down syndrome10.2
32calcinosis10.2
33intestinal disease10.2
34lupus erythematosus10.2
35turner syndrome10.2
36vasculitis10.2
37alopecia totalis10.2
38autoimmune retinopathy10.2
39ataxia10.2
40autosomal recessive disease10.2CYP21A2, AIRE
41oligomenorrhea10.2CYP21A2, INS
42acanthosis nigricans10.2CYP21A2, INS
43anovulation10.2INS, CYP21A2
44hashimoto thyroiditis10.2AIRE, CYP21A2
45cushing's syndrome10.2INS, CYP21A2
46ectodermal dysplasia10.1
47keratopathy10.1
48limbal stem cell deficiency10.1
49myasthenia gravis10.1
50autoimmune thyroiditis10.1

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome:



Diseases related to autoimmune polyendocrine syndrome

Symptoms for Autoimmune Polyendocrine Syndrome

About this section

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Autoimmune Polyendocrine Syndrome

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome

Genetic Tests for Autoimmune Polyendocrine Syndrome

About this section

Anatomical Context for Autoimmune Polyendocrine Syndrome

About this section

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

31
Thyroid, Brain, Testis, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5CASR, IL17A, INS
2MP:00053868.4CASR, TPH1, INS, AIRE
3MP:00053818.2CASR, IL17A, INS, AIRE
4MP:00053908.1CASR, IL17A, TPH1, INS
5MP:00053978.1AIRE, INS, IL17A, CASR
6MP:00053877.8AIRE, INS, IL17A, CASR
7MP:00053767.8AIRE, INS, TPH1, IL17A, CASR

Publications for Autoimmune Polyendocrine Syndrome

About this section

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50)    (show all 84)
idTitleAuthorsYear
1
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. (25821607)
2015
2
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. (24825086)
2014
3
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
4
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
5
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
6
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? (23318858)
2013
7
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. (23697860)
2013
8
Autoimmune polyendocrine syndrome: a case-based review. (23641891)
2013
9
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. (23182718)
2013
10
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
11
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
12
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
13
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
14
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
15
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
16
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. (21161541)
2011
17
Peripartum cardiomyopathy in type II autoimmune polyendocrine syndrome. (19303650)
2011
18
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
19
Predictive role of the immunostaining pattern of immunofluorescence and the titers of antipituitary antibodies at presentation for the occurrence of autoimmune hypopituitarism in patients with autoimmune polyendocrine syndromes over a five-year follow-up. (20501686)
2010
20
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
21
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
22
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
23
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
24
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. (19382991)
2009
25
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
26
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
27
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
28
AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (18200029)
2008
29
Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I. (18000009)
2008
30
Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome. (18088406)
2007
31
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
32
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
33
Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. (17911431)
2007
34
Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome. (17129978)
2006
35
Median eminence dopaminergic nerve terminals: a novel target in autoimmune polyendocrine syndrome? (15855266)
2005
36
Hypoparathyroidism and autoimmune polyendocrine syndromes. (15342816)
2004
37
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. (14764761)
2004
38
Association of acute leukemia and autoimmune polyendocrine syndrome in two kindreds. (12970797)
2003
39
Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I. (11916620)
2002
40
The genetics of autoimmune polyendocrine syndrome type II. (12092455)
2002
41
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
42
The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I. (11423552)
2001
43
Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III. (10664529)
2000
44
Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. (10594751)
1999
45
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. (10470707)
1999
46
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. (8989249)
1997
47
Association between antibodies to the MR 67,000 isoform of glutamate decarboxylase (GAD) and type 1 (insulin-dependent) diabetes mellitus with coexisting autoimmune polyendocrine syndrome type II. (7578849)
1994
48
Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I. (8150232)
1994
49
Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease. (8227354)
1993
50
Autoimmune polyendocrine syndrome. Treatment with intravenous immunoglobulins]. (1468197)
1992

Variations for Autoimmune Polyendocrine Syndrome

About this section

Expression for genes affiliated with Autoimmune Polyendocrine Syndrome

About this section
Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome

About this section

Compounds for genes affiliated with Autoimmune Polyendocrine Syndrome

About this section

Compounds related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

(show all 32)
idCompoundScoreTop Affiliating Genes
1metyrapone43 59 1211.9CYP21A2, TPH1
2clomiphene citrate439.8INS, CYP21A2
3cortisone43 2410.8CYP21A2, INS
4dehydroepiandrosterone sulfate439.8INS, CYP21A2
5melatonin43 28 59 24 1213.8TPH1, CYP21A2
6l-tryptophan49 28 43 24 1213.7CASR, TPH1
7c-peptide439.7INS, CYP21A2
8catecholamine439.7TPH1, CYP21A2
9dhea439.7CYP21A2, INS
10androstenedione43 2410.7INS, CYP21A2
11thiazide439.7INS, CASR
12hydrocortisone43 2 59 1212.5INS, CYP21A2
13thyroxine43 2410.4INS, CYP21A2
14p002439.4IL17A, TPH1
15norepinephrine43 24 1211.3CYP21A2, INS, TPH1
16l-amino acid439.3CASR, TPH1, CYP21A2
17valine439.2TPH1, CYP21A2
18ibmx43 59 2811.2INS, IL17A
19leucine439.2CASR, TPH1, CYP21A2
20acth439.2CYP21A2, INS, CASR
21tacrolimus43 49 1211.1IL17A, INS
22dexamethasone43 49 28 1211.8CYP21A2, INS, IL17A
23creatinine438.8INS, IL17A, CASR
24arginine438.7CASR, TPH1, INS, CYP21A2
25glutamate438.7CASR, TPH1, INS, CYP21A2
26nitric oxide43 24 1210.7CASR, IL17A, TPH1
27glucose438.7CYP21A2, INS, CASR
28phosphatidylinositol438.7INS, IL17A, CASR
29serine438.7AIRE, CYP21A2, INS, CASR
30forskolin43 49 1210.4CYP21A2, TPH1, IL17A, CASR
31estrogen437.9CYP21A2, INS, TPH1, IL17A, CASR
32tyrosine437.5CASR, AIRE, CYP21A2, INS, TPH1, IL17A

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome

About this section

Molecular functions related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.5TPH1, CYP21A2

Products for genes affiliated with Autoimmune Polyendocrine Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Autoimmune Polyendocrine Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet