MCID: ATM019
MIFTS: 41

Autoimmune Polyendocrine Syndrome malady

Genetic diseases, Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases, Blood diseases categories

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

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Sources:
10Disease Ontology, 12DISEASES, 47Novoseek, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 27ICD10
See all sources

Aliases & Descriptions for Autoimmune Polyendocrine Syndrome:

Name: Autoimmune Polyendocrine Syndrome 10 12
Polyendocrinopathies, Autoimmune 65 36
Autoimmune Polyglandular Failure 10
 
Polyendocrinopathies Autoimmune 47
Autoimmune Polyendocrinopathy 10
Lloyd's Syndrome 10


Classifications:



External Ids:

Disease Ontology10 DOID:14040
NCIt42 C84576
MeSH36 D016884
ICD1027 E31.0

Summaries for Autoimmune Polyendocrine Syndrome

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Disease Ontology:10 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 polyglandular syndrome type 3 and autoimmune polyendocrine syndrome type 1. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (Autoimmune Regulator), and among its related pathways are serotonin and melatonin biosynthesis and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include thyroid, pituitary and testis, and related mouse phenotypes are renal/urinary system and vision/eye.

Wikipedia:68 In medicine, autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndrome (PGAS),... more...

Related Diseases for Autoimmune Polyendocrine Syndrome

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Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome Type 2 Autoimmune Polyendocrine Syndrome Type 1

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyglandular syndrome type 330.7GAD2, INS
2autoimmune polyendocrine syndrome type 111.0
3autoimmune polyendocrine syndrome type 210.7
4addison's disease10.6
5hepatitis10.6
6autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.5
7autoimmune hepatitis10.5
8cardiomyopathy10.5
9hypoparathyroidism10.4
10chronic mucocutaneous candidiasis10.4
11candidiasis10.4
12psoriasis10.4
13thyroiditis10.4
14autoimmune polyendocrinopathy type 410.4
15immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome10.2
16systemic lupus erythematosus10.2
17hepatocellular carcinoma10.2
18hepatitis c virus10.2
19cerebellar ataxia10.2
20acute leukemia10.2
21alopecia10.2
22leukemia10.2
23primary biliary cirrhosis10.2
24thrombocytosis10.2
25hepatitis c10.2
26neuronitis10.2
27peripartum cardiomyopathy10.2
28down syndrome10.2
29cardiac arrest10.2
30calcinosis10.2
31hypopituitarism10.2
32intestinal disease10.2
33lupus erythematosus10.2
34turner syndrome10.2
35vasculitis10.2
36alopecia totalis10.2
37autoimmune polyglandular syndrome type 210.2
38autoimmune retinopathy10.2
39ataxia10.2
40autoimmune polyendocrinopathy type 210.2
41autoimmune polyendocrinopathy type 310.2
42familial hemiplegic migraine10.2DDC, TH
43children's interstitial lung disease10.2GAD1, TPH1
44perry syndrome10.2TH, TPH1
45primary dentatum atrophy10.2DDC, INS
46adult brainstem astrocytoma10.2AIRE, FOXP3
47ectodermal dysplasia10.2
48keratopathy10.2
49limbal stem cell deficiency10.2
50myasthenia gravis10.2

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



Diseases related to autoimmune polyendocrine syndrome

Symptoms for Autoimmune Polyendocrine Syndrome

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Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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Drugs for Autoimmune Polyendocrine Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cyclophosphamideapproved, investigationalPhase 2252550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
2lenograstimPhase 21108

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cyclophosphamide in Treating Young Patients With Severe Autoimmune EnteropathyCompletedNCT00258180Phase 2
2Studies of Disorders With Increased Susceptibility to Fungal InfectionsRecruitingNCT01222741
3Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down SyndromeNot yet recruitingNCT02421276

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome


Cochrane evidence based reviews: Polyendocrinopathies, Autoimmune

Genetic Tests for Autoimmune Polyendocrine Syndrome

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Anatomical Context for Autoimmune Polyendocrine Syndrome

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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

33
Thyroid, Pituitary, Testis, Brain

Animal Models for Autoimmune Polyendocrine Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5CASR, DDC, FOXP3, IL17A, INS
2MP:00053918.0AIRE, CASR, DDC, FOXP3, INS, TH
3MP:00028737.9AIRE, FOXP3, GAD1, GAD2, INS, TH
4MP:00053817.7AIRE, CASR, FOXP3, GAD1, GAD2, IL17A
5MP:00053847.6AIRE, CASR, DDC, FOXP3, GAD1, INS
6MP:00053877.3AIRE, CASR, DDC, FOXP3, GAD2, IL17A
7MP:00030127.3AIRE, FOXP3, GAD1, GAD2, IL17A, INS
8MP:00053797.2AIRE, CASR, FOXP3, GAD1, GAD2, INS
9MP:00053887.1AIRE, FOXP3, GAD1, GAD2, IL17A, TH
10MP:00053786.6AIRE, CASR, DDC, FOXP3, GAD1, GAD2
11MP:00107686.5AIRE, CASR, DDC, FOXP3, GAD1, GAD2
12MP:00053866.5AIRE, CASR, DDC, FOXP3, GAD1, GAD2
13MP:00053765.7AIRE, CASR, DDC, FOXP3, GAD1, GAD2

Publications for Autoimmune Polyendocrine Syndrome

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Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. (26312540)
2015
2
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. (25821607)
2015
3
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1. (26181530)
2015
4
Autoimmune polyendocrine syndrome and thrombocytosis. (26229032)
2015
5
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. (24825086)
2014
6
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
7
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
8
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
9
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? (23318858)
2013
10
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. (23697860)
2013
11
Autoimmune polyendocrine syndrome: a case-based review. (23641891)
2013
12
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
13
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. (23565477)
2012
14
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
15
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
16
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
17
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
18
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. (21161541)
2011
19
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. (20123958)
2010
20
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
21
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
22
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
23
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
24
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
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

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Expression for genes affiliated with Autoimmune Polyendocrine Syndrome

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Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7DDC, TPH1
29.7DDC, TPH1
3
beta-Alanine metabolism (KEGG)
Show member pathways
9.6DDC, TPH1
4
Beta-alanine metabolism (TR)
Show member pathways
9.6DDC, TPH1
5
Show member pathways
9.6GAD1, GAD2
69.6GAD1, GAD2
7
Show member pathways
9.6GAD1, GAD2
89.6GAD1, GAD2
99.3DDC, TH
109.3DDC, TH
119.3DDC, TH
128.9DDC, TH, TPH1
13
Show member pathways
8.9DDC, TH, TPH1
14
Show member pathways
8.0DDC, GAD1, GAD2, TH, TPH1
15
Show member pathways
8.0DDC, GAD1, GAD2, TH, TPH1
168.0DDC, GAD1, GAD2, TH, TPH1
17
Show member pathways
8.0FOXP3, GAD1, GAD2, IL17A, INS

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome

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Cellular components related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:00612029.9GAD1, GAD2
2axonGO:00304249.0DDC, GAD2, TH

Biological processes related to Autoimmune Polyendocrine Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylation to succinateGO:000654010.2GAD1, GAD2
2serotonin biosynthetic processGO:00424279.9DDC, TPH1
3indolalkylamine biosynthetic processGO:00462199.9DDC, TPH1
4aromatic amino acid family metabolic processGO:00090729.7TH, TPH1
5multicellular organismal agingGO:00102599.6DDC, TH
6synaptic vesicle amine transportGO:00158429.6DDC, TH
7response to immobilization stressGO:00359029.6TH, TPH1
8isoquinoline alkaloid metabolic processGO:00330769.6DDC, TH
9dopamine biosynthetic processGO:00424169.5DDC, TH
10carboxylic acid metabolic processGO:00197529.5DDC, GAD1, GAD2
11catecholamine biosynthetic processGO:00424239.5DDC, TH
12response to pyrethroidGO:00466849.4DDC, TH
13phytoalexin metabolic processGO:00523149.3DDC, TH
14cellular response to alkaloidGO:00713129.2DDC, TH
15anatomical structure morphogenesisGO:00096539.2CASR, FOXP3, TH
16neurotransmitter biosynthetic processGO:00421369.1GAD1, GAD2, TH
17cellular nitrogen compound metabolic processGO:00346418.9DDC, TH, TPH1

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

idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylase activityGO:000435110.0GAD1, GAD2
2oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygenGO:00167149.5TH, TPH1
3carboxy-lyase activityGO:00168319.2DDC, GAD1, GAD2
4pyridoxal phosphate bindingGO:00301709.0DDC, GAD1, GAD2
5amino acid bindingGO:00165978.9DDC, TH, TPH1

Sources for Autoimmune Polyendocrine Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet