MCID: ATM019
MIFTS: 43

Autoimmune Polyendocrine Syndrome malady

Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases, Genetic diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

Aliases & Descriptions for Autoimmune Polyendocrine Syndrome:

Name: Autoimmune Polyendocrine Syndrome 12 14
Polyendocrinopathies, Autoimmune 42 69
Autoimmune Polyglandular Failure 12
Polyendocrinopathies Autoimmune 52
Autoimmune Polyendocrinopathy 12
Lloyd's Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14040
ICD10 33 E31.0
MeSH 42 D016884
NCIt 47 C84576
UMLS 69 C0085409

Summaries for Autoimmune Polyendocrine Syndrome

Disease Ontology : 12 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 retinopathy and autoimmune polyendocrine syndrome, type ii. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Allograft rejection and Neuroscience. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testis, and related phenotypes are digestive/alimentary and endocrine/exocrine gland

Wikipedia : 71 Autoimmune polyendocrine syndromes (APSs), also called autoimmune polyglandular syndromes (APSs),... more...

Related Diseases for Autoimmune Polyendocrine Syndrome

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii 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 59)
id Related Disease Score Top Affiliating Genes
1 autoimmune retinopathy 29.6 FOXP3 IL17A
2 autoimmune polyendocrine syndrome, type ii 12.5
3 autoimmune polyendocrine syndrome type 1 12.4
4 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia 11.7
5 autoimmune polyendocrinopathy type 4 11.1
6 autoimmune polyendocrinopathy type 3 11.1
7 autoimmune polyglandular syndrome type 3 11.1
8 complement component 8 deficiency 10.2 AIRE CYP21A2
9 chondrodysplasia lethal recessive 10.2 GAD1 TPH1
10 addison's disease 10.2
11 photoparoxysmal response 3 10.2 GAD1 GAD2
12 hepatitis 10.1
13 hypotrichosis 4 10.1 AIRE CYP21A2
14 mixed cerebral palsy 10.1 GAD1 GAD2
15 triphalangeal thumbs and dislocation of patella 10.1 AIRE GAD1 GAD2
16 lipedematous scalp 10.1 GAD1 GAD2
17 malignant otitis externa 10.1 AIRE CYP21A2
18 hypermobility syndrome 10.1 AIRE CYP21A2 DDC
19 atrial tachyarrhythmia with short pr interval 10.1 GAD1 GAD2
20 cardiomyopathy 10.0
21 autoimmune hepatitis 10.0
22 hypoparathyroidism 10.0
23 chronic mucocutaneous candidiasis 9.9
24 thyroiditis 9.9
25 psoriasis 9.9
26 candidiasis 9.9
27 primary non-gestational choriocarcinoma of ovary 9.9 IL17A IL22
28 diabetes mellitus, insulin-dependent, 20 9.9 AIRE FOXP3 GAD1 GAD2
29 vulvar nodular hidradenoma 9.8 AIRE IL17A IL22
30 rosacea conjunctivitis 9.8 FOXP3 IL17A
31 articulation disorder 9.8 AIRE FOXP3 GAD2 IL17A
32 hepatitis c virus 9.8
33 calcinosis 9.8
34 peripartum cardiomyopathy 9.8
35 cerebellar ataxia 9.8
36 hepatitis c 9.8
37 ataxia 9.8
38 thrombocytosis 9.8
39 acute leukemia 9.8
40 turner syndrome 9.8
41 alopecia 9.8
42 intestinal disease 9.8
43 neuronitis 9.8
44 leukemia 9.8
45 vasculitis 9.8
46 primary biliary cirrhosis 9.8
47 lupus erythematosus 9.8
48 cardiac arrest 9.8
49 hypopituitarism 9.8
50 alopecia totalis 9.8

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



Diseases related to Autoimmune Polyendocrine Syndrome

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.73 AIRE CASR FOXP3 GAD1 GAD2 IL17A
2 endocrine/exocrine gland MP:0005379 9.7 AIRE CASR FOXP3 GAD1 GAD2 IL17A
3 growth/size/body region MP:0005378 9.56 IL17A TPH1 AIRE CASR DDC FOXP3
4 respiratory system MP:0005388 9.1 AIRE FOXP3 GAD1 GAD2 IL17A TPH1

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3 Anti-Bacterial Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antifungal Agents Phase 2
6 Liposomal amphotericin B Phase 2
7 Autoantibodies Phase 2
8 Antiparasitic Agents Phase 2
9 Antiprotozoal Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2
2 Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome Recruiting NCT02421276
3 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome

Cochrane evidence based reviews: polyendocrinopathies, autoimmune

Genetic Tests for Autoimmune Polyendocrine Syndrome

Anatomical Context for Autoimmune Polyendocrine Syndrome

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome:

39
Thyroid, Brain, Testis, Pituitary

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50) (show all 91)
id Title Authors Year
1
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. ( 27219120 )
2016
2
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. ( 27253668 )
2016
3
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. ( 26830021 )
2016
4
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. ( 26312540 )
2015
5
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. ( 25475693 )
2015
6
Autoimmune polyendocrine syndrome 3 onset with severe ketoacidosis in a 74-year-old woman. ( 25821607 )
2015
7
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1. ( 26181530 )
2015
8
Autoimmune polyendocrine syndrome and thrombocytosis. ( 26229032 )
2015
9
Psoriasis in autoimmune polyendocrine syndrome type I: a possible complication or a non-endocrine minor component? ( 25751334 )
2015
10
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
11
Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II. ( 24914264 )
2014
12
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
13
Psoriasis vulgaris and autoimmune polyendocrine syndrome type I: a case report. ( 24825086 )
2014
14
Successful management of insulin allergy and autoimmune polyendocrine syndrome type 4 with desensitization therapy and glucocorticoid treatment: a case report and review of the literature. ( 25548690 )
2014
15
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
16
A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3). ( 26000153 )
2014
17
Reversible cardiomyopathy associated with autoimmune polyendocrine syndrome type II. ( 23648718 )
2013
18
Autoimmune retinopathy in a patient with autoimmune polyendocrine syndrome type I. ( 23697860 )
2013
19
Hashimoto's thyroiditis concomitant with sequential autoimmune hepatitis, chorea and polyserositis: a new entity of autoimmune polyendocrine syndrome? ( 23318858 )
2013
20
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
21
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
22
Autoimmune polyendocrine syndrome: a case-based review. ( 23641891 )
2013
23
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
24
Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. ( 24158785 )
2013
25
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
26
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. ( 22344197 )
2012
27
Tetany due to hypoparathyroidism as the initial manifestation of autoimmune polyendocrine syndrome type-2: A case report. ( 23565477 )
2012
28
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. ( 21901851 )
2012
29
Hepatitis C virus infection in a child with autoimmune polyendocrine syndrome type 2: a case report. ( 22839422 )
2012
30
Serological screening for autoimmune polyendocrine syndromes in patients with vitiligo. ( 21883495 )
2012
31
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012
32
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
33
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. ( 21182094 )
2011
34
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. ( 21198756 )
2011
35
Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins. ( 21535082 )
2011
36
Acute cardiac arrest secondary to severe hyperkalemia due to autoimmune polyendocrine syndrome type II. ( 21161541 )
2011
37
Peripartum cardiomyopathy in type II autoimmune polyendocrine syndrome. ( 19303650 )
2011
38
Insulin-dependent diabetes mellitus associated with presumed autoimmune polyendocrine syndrome in a mare. ( 22043070 )
2011
39
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. ( 20453472 )
2010
40
Autoimmune polyendocrine syndrome type I and brain calcinosis. ( 19699136 )
2010
41
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
42
Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient. ( 20411253 )
2010
43
Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. ( 20500699 )
2010
44
Clinico-pathological findings in a patient with progressive cerebellar ataxia, autoimmune polyendocrine syndrome, hepatocellular carcinoma and anti-GAD autoantibodies. ( 20056249 )
2010
45
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. ( 20123958 )
2010
46
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. ( 19837919 )
2009
47
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. ( 19382990 )
2009
48
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). ( 19382992 )
2009
49
Takotsubo cardiomyopathy associated with autoimmune polyendocrine syndrome II. ( 19304138 )
2009
50
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. ( 19251657 )
2009

Variations for Autoimmune Polyendocrine Syndrome

Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 159448 21 42600000 48129895 Deletion AIRE Autoimmune polyendocrine syndrome

Expression for Autoimmune Polyendocrine Syndrome

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

Pathways for Autoimmune Polyendocrine Syndrome

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

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 FOXP3 GAD1 GAD2 IL17A IL22
2 12.07 DDC GAD1 GAD2 TPH1
3
Show member pathways
11.13 DDC TPH1
4
Show member pathways
11.09 GAD1 GAD2
5 11.04 GAD1 GAD2
6
Show member pathways
11.01 GAD1 GAD2
7 10.96 IL17A IL22
8 10.88 DDC TPH1
9
Show member pathways
10.66 GAD1 GAD2
10 10.6 GAD1 GAD2
11
Show member pathways
10.44 GAD1 GAD2
12
Show member pathways
10.27 DDC GAD1 GAD2 TPH1
13 10.2 GAD1 GAD2

GO Terms for Autoimmune Polyendocrine Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.26 CASR DDC GAD1 GAD2
2 inhibitory synapse GO:0060077 9.16 GAD1 GAD2
3 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 8.62 GAD1 GAD2

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

id Name GO ID Score Top Affiliating Genes
1 neurotransmitter biosynthetic process GO:0042136 9.32 GAD1 GAD2
2 indolalkylamine biosynthetic process GO:0046219 9.26 DDC TPH1
3 serotonin biosynthetic process GO:0042427 9.16 DDC TPH1
4 glutamate decarboxylation to succinate GO:0006540 8.96 GAD1 GAD2
5 carboxylic acid metabolic process GO:0019752 8.8 DDC GAD1 GAD2

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

id Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.54 DDC GAD1 GAD2
2 pyridoxal phosphate binding GO:0030170 9.43 DDC GAD1 GAD2
3 glutamate binding GO:0016595 9.32 GAD1 GAD2
4 glutamate decarboxylase activity GO:0004351 9.16 GAD1 GAD2
5 carboxy-lyase activity GO:0016831 9.13 DDC GAD1 GAD2
6 amino acid binding GO:0016597 8.8 CASR DDC TPH1

Sources for Autoimmune Polyendocrine Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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