APS1
MCID: ATM002
MIFTS: 48

Autoimmune Polyendocrine Syndrome Type 1 (APS1) malady

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

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

Aliases & Descriptions for Autoimmune Polyendocrine Syndrome Type 1:

Name: Autoimmune Polyendocrine Syndrome Type 1 12 50 14
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 12 50 24 25
Autoimmune Polyendocrinopathy Syndrome Type 1 50 24 25
Polyglandular Type I Autoimmune Syndrome 25 69
Apeced 25 52
Aps1 24 25
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 25
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 50
Autoimmune Polyglandular Syndrome, Type 1 25
Polyglandular Autoimmune Syndrome, Type 1 25
Autoimmune Polyglandular Syndrome Type 1 50
Polyglandular Autoimmune Syndrome Type 1 50
Polyglandular Autoimmune Syndrome Type I 29
Autoimmune Polyglandular Syndrome I 12
Whitaker Syndrom 12
Aire Deficiency 25
Aps Type 1 25
Aps 1 50
Pga 1 50
Pga I 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050167

Summaries for Autoimmune Polyendocrine Syndrome Type 1

NIH Rare Diseases : 50 autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and addison disease. affected individuals typically have at least two of these features, and many have all three. this syndrome can cause a variety of additional signs and symptoms, although they occur less often. complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. type 1 diabetes also occurs in some patients with this condition. mutations in the aire gene cause autoimmune polyglandular syndrome, type 1. this condition is inherited in an autosomal recessive fashion. last updated: 12/28/2015

MalaCards based summary : Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to whitaker syndrome and autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Circadian rythm related genes and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and thyroid, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

CDC : 3 Outdoor air quality has improved since the 1990s, but many challenges remain in protecting Americans from air quality problems. Ground-level ozone, the main part of smog, and particle pollution are just two of the many threats to air quality and public health in the United States.

Wikipedia : 71 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome Type 1

Diseases related to Autoimmune Polyendocrine Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 whitaker syndrome 11.8
2 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia 11.0
3 autoimmune polyendocrine syndrome 10.6
4 complement component 8 deficiency 10.2 AIRE CYP21A2
5 hypotrichosis 4 10.1 AIRE CYP21A2
6 movement disease 10.1 DDC TH
7 dyt1 early-onset isolated dystonia 10.1 CYP17A1 CYP21A2
8 borderline personality disorder 10.1 CYP17A1 CYP21A2
9 bent bone dysplasia syndrome 10.1 CYP17A1 CYP21A2
10 epidemic typhus 10.0 CYP17A1 CYP21A2
11 sphingolipidosis 10.0 CYP17A1 CYP21A2
12 denys-drash syndrome 10.0 AIRE IL17A
13 distal monosomy 14q 10.0 CYP11A1 CYP21A2
14 pythiosis 10.0 DDC TH
15 opioid abuse 10.0 AIRE CASR
16 x-linked sideroblastic anemia with ataxia 9.9 CYP11A1 CYP17A1
17 esophagus squamous cell papilloma 9.9 AIRE CYP11A1
18 malignant otitis externa 9.9 AIRE CYP11A1 CYP21A2
19 cardiomyopathy, dilated, 1v 9.9 CYP11A1 CYP17A1
20 intestinal disease 9.9
21 systemic lupus erythematosus 9.9
22 neuronitis 9.9
23 vasculitis 9.9
24 lupus erythematosus 9.9
25 autoimmune hepatitis 9.9
26 hepatitis 9.9
27 hypoparathyroidism 9.9
28 candidiasis 9.9
29 chronic mucocutaneous candidiasis 9.9
30 thymoma 9.9
31 keratopathy 9.9
32 epithelial predominant pulmonary blastoma 9.8 CYP11A1 CYP17A1 CYP21A2
33 clear cell acanthoma 9.8 CYP11A1 CYP17A1 CYP21A2
34 microphthalmia, syndromic 9 9.8 CYP11A1 CYP17A1 CYP21A2
35 jackson-weiss syndrome 9.8 CYP11A1 CYP17A1 CYP21A2
36 liver sarcoma 9.8 CYP11A1 CYP17A1 CYP21A2
37 ameloblastoma 9.8 CYP11A1 CYP17A1 CYP21A2
38 panuveitis 9.8 CYP11A1 CYP17A1 CYP21A2
39 childhood optic tract astrocytoma 9.8 CYP11A1 CYP17A1 CYP21A2
40 second-degree atrioventricular block 9.8 CYP11A1 CYP17A1 CYP21A2
41 glioma susceptibility 1 9.8 CYP11A1 CYP17A1 CYP21A2
42 loeffler endocarditis 9.8 CYP11A1 CYP17A1 CYP21A2
43 primary biliary cirrhosis 9.8 CYP11A1 CYP17A1 CYP21A2
44 acute pancreatitis 9.6
45 pancreatitis 9.6
46 hypermobility syndrome 9.6 AIRE CYP11A1 CYP17A1 CYP21A2 DDC
47 omenn syndrome 9.5
48 myasthenia gravis 9.5
49 lymphoma 9.5
50 phaeohyphomycosis 9.3 AIRE CASR CYP21A2 DDC IL17A NLRP5

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 1:



Diseases related to Autoimmune Polyendocrine Syndrome Type 1

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome Type 1

UMLS symptoms related to Autoimmune Polyendocrine Syndrome Type 1:


diarrhea

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AIRE CASR CYP11A1 CYP17A1 DDC TH
2 cellular MP:0005384 9.7 AIRE CASR CYP11A1 CYP17A1 DDC TDRD6
3 endocrine/exocrine gland MP:0005379 9.43 AIRE CASR CYP11A1 IL17A TDRD6 TH
4 homeostasis/metabolism MP:0005376 9.23 IL17A TH TPH1 AIRE CASR CYP11A1

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

Drugs for Autoimmune Polyendocrine Syndrome Type 1 (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

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

Genetic tests related to Autoimmune Polyendocrine Syndrome Type 1:

id Genetic test Affiliating Genes
1 Polyglandular Autoimmune Syndrome, Type 1 29
2 Autoimmune Polyendocrinopathy Syndrome Type 1 24 AIRE

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

39
Skin, Eye, Thyroid, Ovary, Pituitary

Publications for Autoimmune Polyendocrine Syndrome Type 1

Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 30)
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
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
7
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
8
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
9
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
10
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
11
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
12
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
13
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. ( 22344197 )
2012
14
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. ( 21901851 )
2012
15
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012
16
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
17
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. ( 21182094 )
2011
18
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. ( 21198756 )
2011
19
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. ( 20453472 )
2010
20
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. ( 19837919 )
2009
21
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. ( 19382990 )
2009
22
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). ( 19382992 )
2009
23
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. ( 19251657 )
2009
24
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. ( 18322283 )
2008
25
[Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. ( 18296018 )
2008
26
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. ( 17374709 )
2007
27
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. ( 17118990 )
2007
28
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. ( 17215373 )
2007
29
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. ( 11207636 )
2001
30
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. ( 10470707 )
1999

Variations for Autoimmune Polyendocrine Syndrome Type 1

ClinVar genetic disease variations for Autoimmune Polyendocrine Syndrome Type 1:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 AIRE NM_000383.3(AIRE): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121434254 GRCh37 Chromosome 21, 45709656: 45709656
2 AIRE NM_000383.3(AIRE): c.247A> G (p.Lys83Glu) single nucleotide variant Pathogenic rs121434255 GRCh37 Chromosome 21, 45706554: 45706554
3 AIRE NM_000383.3(AIRE): c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) deletion Pathogenic/Likely pathogenic rs386833675 GRCh37 Chromosome 21, 45711065: 45711077
4 AIRE NM_000383.3(AIRE): c.415C> T (p.Arg139Ter) single nucleotide variant Pathogenic rs121434256 GRCh37 Chromosome 21, 45706968: 45706968
5 AIRE NM_000383.3(AIRE): c.1103dupC (p.Leu370Alafs) duplication Pathogenic rs387906293 GRCh37 Chromosome 21, 45712883: 45712883
6 AIRE NM_000383.3(AIRE): c.1513delG (p.Ala505Profs) deletion Pathogenic rs387906294 GRCh37 Chromosome 21, 45716275: 45716275
7 AIRE NM_000383.3(AIRE): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121434258 GRCh37 Chromosome 21, 45705890: 45705890
8 AIRE AIRE, 4-BP DUP, 205CAGG duplication Pathogenic
9 AIRE NM_000383.3(AIRE): c.239T> G (p.Val80Gly) single nucleotide variant Pathogenic rs267606642 GRCh37 Chromosome 21, 45706546: 45706546
10 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic/Likely pathogenic rs386833672 GRCh37 Chromosome 21, 45712943: 45712944
11 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh37 Chromosome 21, 45717588: 45717588
12 AIRE NM_000383.3(AIRE): c.254A> G (p.Tyr85Cys) single nucleotide variant Pathogenic rs179363882 GRCh37 Chromosome 21, 45706561: 45706561
13 AIRE NM_000383.3(AIRE): c.463+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786204478 GRCh37 Chromosome 21, 45707018: 45707018
14 AIRE NM_000383.3(AIRE): c.1249dupC (p.Leu417Profs) duplication Pathogenic/Likely pathogenic rs786204567 GRCh38 Chromosome 21, 44293146: 44293146

Expression for Autoimmune Polyendocrine Syndrome Type 1

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 1.

Pathways for Autoimmune Polyendocrine Syndrome Type 1

Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
2 11.85 DDC TH TPH1
3 11.46 DDC TH TPH1
4
Show member pathways
11.38 CYP11A1 CYP17A1 CYP21A2
5 11.22 CYP11A1 CYP17A1
6
Show member pathways
11.14 CYP11A1 CYP17A1 CYP21A2
7 10.97 DDC TH
8 10.92 DDC TPH1
9
Show member pathways
10.76 CYP17A1 CYP21A2
10
Show member pathways
10.73 DDC TH TPH1
11 10.55 DDC TH
12 10.45 DDC TH
13
Show member pathways
10.14 DDC TH TPH1

GO Terms for Autoimmune Polyendocrine Syndrome Type 1

Cellular components related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.26 CASR CYP17A1 DDC TH
2 axon GO:0030424 8.92 CASR CYP17A1 DDC TH

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 CYP11A1 CYP17A1 CYP21A2 TH TPH1
2 steroid metabolic process GO:0008202 9.72 CYP11A1 CYP17A1 CYP21A2
3 steroid biosynthetic process GO:0006694 9.61 CYP11A1 CYP17A1 CYP21A2
4 response to immobilization stress GO:0035902 9.58 TH TPH1
5 response to metal ion GO:0010038 9.57 CASR TH
6 multicellular organism aging GO:0010259 9.56 DDC TH
7 cellular response to alkaloid GO:0071312 9.52 DDC TH
8 dopamine biosynthetic process GO:0042416 9.51 DDC TH
9 aromatic amino acid family metabolic process GO:0009072 9.49 TH TPH1
10 glucocorticoid biosynthetic process GO:0006704 9.48 CYP17A1 CYP21A2
11 catecholamine biosynthetic process GO:0042423 9.46 DDC TH
12 indolalkylamine biosynthetic process GO:0046219 9.4 DDC TPH1
13 response to pyrethroid GO:0046684 9.37 DDC TH
14 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.32 DDC TH
15 isoquinoline alkaloid metabolic process GO:0033076 9.26 DDC TH
16 serotonin biosynthetic process GO:0042427 9.16 DDC TPH1
17 phytoalexin metabolic process GO:0052314 8.96 DDC TH
18 sterol metabolic process GO:0016125 8.8 CYP11A1 CYP17A1 CYP21A2

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 CYP11A1 CYP17A1 CYP21A2 TH TPH1
2 heme binding GO:0020037 9.54 CYP11A1 CYP17A1 CYP21A2
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.5 CYP11A1 CYP17A1 CYP21A2
4 oxygen binding GO:0019825 9.4 CYP17A1 TH
5 iron ion binding GO:0005506 9.35 CYP11A1 CYP17A1 CYP21A2 TH TPH1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 9.16 TH TPH1
7 amino acid binding GO:0016597 8.92 CASR DDC TH TPH1

Sources for Autoimmune Polyendocrine Syndrome Type 1

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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