MCID: ATM002
MIFTS: 50

Autoimmune Polyendocrine Syndrome Type 1 malady

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

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 65UMLS, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Autoimmune Polyendocrine Syndrome Type 1:

Name: Autoimmune Polyendocrine Syndrome Type 1 10 45 12 51
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 10 45 22 23
Autoimmune Polyendocrinopathy Syndrome Type 1 45 22 23
Aps1 22 23 51
Polyglandular Autoimmune Syndrome, Type 1 23 24
Autoimmune Polyglandular Syndrome Type 1 45 51
Polyglandular Type I Autoimmune Syndrome 23 65
Aps Type 1 23 51
Apeced 23 47
Autoimmune Polyendocrinopathy - Candidiasis - Ectodermal Dystrophy Syndrome 51
Autoimmune Polyendocrinopathy - Candidosis - Ectodermal Dystrophy Syndrome 51
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 23
Autoimmune Hypoparathyroidism - Chronic Candidiasis - Addison's Disease 51
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 45
Autoimmune Hypoparathyroidism - Chronic Candidosis - Addison's Disease 51
Hypoparathyroidism - Addison's Disease - Mucocutaneous Candidiasis 51
Hypoparathyroidism - Addison's Disease - Mucocutaneous Candidosis 51
 
Multiple Endocrine Deficiency - Addison's Disease - Candidiasis 51
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune 23
Multiple Endocrine Deficiency - Addison's Disease - Candidosis 51
Autoimmune Polyglandular Syndrome, Type 1 23
Autoimmune Syndrome Type I, Polyglandular 23
Polyglandular Autoimmune Syndrome Type 1 45
Autoimmune Polyendocrinopathy Type 1 51
Autoimmune Polyglandular Syndrome I 10
Whitaker Syndrom 10
Aire Deficiency 23
Apeced Syndrome 51
Medac Syndrome 51
Ham Syndrome 51
Aps 1 45
Pga I 23
Pga 1 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
autoimmune polyendocrine syndrome type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Finland),1-9/1000000 (France); Age of onset: Childhood; Age of death: adult


External Ids:

Disease Ontology10 DOID:0050167
Orphanet51 3453
UMLS via Orphanet66 C3494489
ICD10 via Orphanet28 E31.0
MESH via Orphanet37 C538275

Summaries for Autoimmune Polyendocrine Syndrome Type 1

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NIH Rare Diseases:45 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: 5/28/2009

MalaCards based summary: Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to autoimmune polyendocrine syndrome and hypoparathyroidism, and has symptoms including corneal clouding/opacity/vascularisation, mild visual loss/impaired visual acuity and photophobia. An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (Autoimmune Regulator), and among its related pathways are Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics and serotonin and melatonin biosynthesis. Affiliated tissues include skin, ovary and eye, and related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

Disease Ontology:10 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:2 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.

Genetics Home Reference:23 Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake.

Wikipedia:68 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

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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 Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome11.1
2hypoparathyroidism10.7
3keratopathy10.5
4leukemia10.5
5pure red-cell aplasia10.5
6autoimmune thyroiditis10.5
7oral candidiasis10.5
8oral squamous cell carcinoma10.5
9herpes simplex10.5
10hypothyroidism10.5
11long qt syndrome10.5
12myopathy10.5
13panniculitis10.5
14thyroiditis10.5
15large granular lymphocyte leukemia10.5
16autoimmune hypoparathyroidism10.5
17whitaker syndrome10.4
18systemic lupus erythematosus10.4
19autoimmune hepatitis10.4
20hepatitis10.4
21neuronitis10.4
22autoimmune polyendocrine syndrome type 210.4
23chronic mucocutaneous candidiasis10.4
24candidiasis10.4
25intestinal disease10.4
26lupus erythematosus10.4
27vasculitis10.4
28thymoma10.3
29androgen insensitivity, partial, with or without breast cancer10.3
30rheumatoid arthritis10.3
31arthritis10.3
32dilated cardiomyopathy10.3
33juvenile rheumatoid arthritis10.3
34growth hormone deficiency10.3
35cardiomyopathy10.3
36autosomal dominant congenital stationary night blindness10.2AIRE, CYP21A2
37parietal lobe neoplasm10.2AIRE, CASR
38alopecia universalis10.2AIRE, CYP21A2
39autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
40serous conjunctivitis except viral10.2AIRE, CASR
41ipex syndrome10.1
42spondylocostal dysostosis - anal and genitourinary malformations10.1CYP11A1, CYP21A2
43retinal dystrophies primarily involving bruch's membrane10.1CYP11A1, CYP21A2
44steroid-induced glaucoma10.1CYP11A1, CYP21A2
45lice infestation10.1CYP11A1, CYP21A2
46adrenal cortex disease10.1CYP11A1, CYP21A2
47autoimmune-related retinopathy and optic neuropathy10.1AIRE, DDC
48familial hemiplegic migraine10.1DDC, TH
49diabetes insipidus10.1CYP11A1, CYP21A2
50perry syndrome10.1TH, TPH1

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



Diseases related to autoimmune polyendocrine syndrome type 1

Symptoms for Autoimmune Polyendocrine Syndrome Type 1

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Symptoms:

 51 (show all 15)
  • corneal clouding/opacity/vascularisation
  • mild visual loss/impaired visual acuity
  • photophobia
  • dysplastic/thick/grooved fingernails
  • hypoparathyroidy
  • cortico-adrenal hypoplasia/insufficiency
  • cortico-adrenal hyperplasia/hypersecretion
  • cerebral vascular anomalies
  • autoimmunity/autoimmune reaction/autoantibodies
  • phosphocalcic metabolism anomalies
  • autosomal recessive inheritance
  • cataract/lens opacification
  • irregular/patchy skin hypopigmentation
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • intracranial/cerebral calcifications

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

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Drugs for Autoimmune Polyendocrine Syndrome Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Eapproved, nutraceuticalPhase 2, Phase 335059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2TocotrienolsPhase 2, Phase 3352
3TocopherolsPhase 2, Phase 3355
4TocopherolNutraceuticalPhase 2, Phase 3355
5Omega 3 Fatty AcidNutraceuticalPhase 2, Phase 3890
6TocotrienolNutraceuticalPhase 2, Phase 3352

Interventional clinical trials:

idNameStatusNCT IDPhase
1Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.Not yet recruitingNCT02070211Phase 2, Phase 3

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

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Genetic tests related to Autoimmune Polyendocrine Syndrome Type 1:

id Genetic test Affiliating Genes
1 Autoimmune Polyendocrinopathy Syndrome Type 122 AIRE
2 Polyglandular Autoimmune Syndrome, Type 124

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

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

33
Skin, Ovary, Eye, Thyroid, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.3AIRE, CASR, CYP11A1, DDC, TH, TPH1
2MP:00053767.1AIRE, CASR, CYP11A1, DDC, IL17A, TH

Publications for Autoimmune Polyendocrine Syndrome Type 1

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Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 27)
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 hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. (25475693)
2015
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
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
7
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
8
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. (23342054)
2013
9
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
10
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
11
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
12
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
13
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
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
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
17
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
18
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
19
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
20
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
21
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
22
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
23
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
24
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
25
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
26
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
27
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. (10470707)
1999

Variations for Autoimmune Polyendocrine Syndrome Type 1

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Clinvar genetic disease variations for Autoimmune Polyendocrine Syndrome Type 1:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1AIRENM_000383.3(AIRE): c.463+2T> Csingle nucleotide variantLikely pathogenicrs786204478GRCh37Chr 21, 45707018: 45707018
2AIRENM_000383.3(AIRE): c.1249dupC (p.Leu417Profs)duplicationLikely pathogenicrs786204567GRCh38Chr 21, 44293146: 44293146
3AIRENM_000383.3(AIRE): c.232T> C (p.Trp78Arg)single nucleotide variantLikely pathogenicrs179363880GRCh38Chr 21, 44286656: 44286656
4AIRENM_000383.3(AIRE): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs121434254GRCh37Chr 21, 45709656: 45709656
5AIRENM_000383.3(AIRE): c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs)deletionLikely pathogenic, Pathogenicrs386833675GRCh37Chr 21, 45711065: 45711077
6AIRENM_000383.3(AIRE): c.415C> T (p.Arg139Ter)single nucleotide variantPathogenicrs121434256GRCh37Chr 21, 45706968: 45706968
7AIRENM_000383.3(AIRE): c.1322C> T (p.Thr441Met)single nucleotide variantLikely pathogenicrs72650677GRCh37Chr 21, 45713715: 45713715
8AIRENM_000383.3(AIRE): c.342G> T (p.Lys114Asn)single nucleotide variantLikely pathogenicrs142788946GRCh37Chr 21, 45706895: 45706895
9AIRENM_000383.3(AIRE): c.371C> T (p.Pro124Leu)single nucleotide variantLikely pathogenicrs193922417GRCh37Chr 21, 45706924: 45706924
10AIRENM_000383.3(AIRE): c.463G> A (p.Gly155Ser)single nucleotide variantLikely pathogenicrs193922418GRCh37Chr 21, 45707016: 45707016
11AIRENM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs)insertionLikely pathogenicrs386833672GRCh37Chr 21, 45712943: 45712944
12AIRENM_000383.3(AIRE): c.1638A> T (p.Ter546Cys)single nucleotide variantLikely pathogenicrs386833673GRCh37Chr 21, 45717610: 45717610
13AIRENM_000383.3(AIRE): c.932G> A (p.Cys311Tyr)single nucleotide variantLikely pathogenicrs386833674GRCh37Chr 21, 45711030: 45711030
14AIRENM_000383.3(AIRE): c.254A> G (p.Tyr85Cys)single nucleotide variantPathogenicrs179363882GRCh37Chr 21, 45706561: 45706561
15AIRENM_000383.3(AIRE): c.62C> T (p.Ala21Val)single nucleotide variantLikely pathogenicrs179363886GRCh37Chr 21, 45705951: 45705951

Expression for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1aromatic amino acid family metabolic processGO:000907210.1TH, TPH1
2serotonin biosynthetic processGO:004242710.1DDC, TPH1
3indolalkylamine biosynthetic processGO:004621910.0DDC, TPH1
4response to immobilization stressGO:003590210.0TH, TPH1
5multicellular organismal agingGO:00102599.9DDC, TH
6synaptic vesicle amine transportGO:00158429.9DDC, TH
7isoquinoline alkaloid metabolic processGO:00330769.9DDC, TH
8cellular response to drugGO:00356909.8DDC, TH
9dopamine biosynthetic processGO:00424169.8DDC, TH
10catecholamine biosynthetic processGO:00424239.8DDC, TH
11response to pyrethroidGO:00466849.8DDC, TH
12phytoalexin metabolic processGO:00523149.8DDC, TH
13cellular response to alkaloidGO:00713129.8DDC, TH
14C21-steroid hormone biosynthetic processGO:00067009.7CYP11A1, CYP21A2
15glucocorticoid biosynthetic processGO:00067049.7CYP11A1, CYP21A2
16cellular response to peptide hormone stimulusGO:00713759.7CYP11A1, CYP21A2
17cellular response to growth factor stimulusGO:00713639.7DDC, TH
18response to antibioticGO:00466779.7CYP11A1, CYP21A2
19response to amino acidGO:00432009.7CYP11A1, IL17A
20phthalate metabolic processGO:00189639.7CYP11A1, TH
21mating behaviorGO:00076179.7CYP11A1, TH
22cellular response to interleukin-1GO:00713479.6CYP11A1, IL17A
23sterol metabolic processGO:00161259.6CYP11A1, CYP21A2
24response to salt stressGO:00096519.6CYP11A1, TH
25steroid metabolic processGO:00082029.6CYP11A1, CYP21A2
26response to insecticideGO:00170859.6CYP11A1, TH
27response to corticosteroneGO:00514129.6CYP11A1, TH
28response to steroid hormoneGO:00485459.6CYP11A1, TH
29response to peptide hormoneGO:00434349.6CYP11A1, TH
30cellular nitrogen compound metabolic processGO:00346419.1DDC, TH, TPH1
31oxidation-reduction processGO:00551148.2CYP11A1, CYP21A2, TH, TPH1
32small molecule metabolic processGO:00442817.8CYP11A1, CYP21A2, DDC, TH, TPH1

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygenGO:00167149.9TH, TPH1
2amino acid bindingGO:00165979.1DDC, TH, TPH1
3monooxygenase activityGO:00044978.8CYP11A1, TH, TPH1
4iron ion bindingGO:00055068.3CYP11A1, CYP21A2, TH, TPH1

Sources for Autoimmune Polyendocrine Syndrome Type 1

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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