MCID: ATM002
MIFTS: 53

Autoimmune Polyendocrine Syndrome Type 1 malady

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

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, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards 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
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 Syndrome 51
Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison's Disease Syndrome 51
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 23
Hypoparathyroidism-Addison's Disease-Mucocutaneous Candidiasis Syndrome 51
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 45
Multiple Endocrine Deficiency-Addison's Disease-Candidiasis Syndrome 51
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune 23
 
Autoimmune Syndrome Type I, Polyglandular 23
Polyglandular Autoimmune Syndrome, Type 1 23
Autoimmune Polyglandular Syndrome, Type 1 23
Polyglandular Autoimmune Syndrome Type 1 45
Polyglandular Autoimmune Syndrome Type I 24
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 1 45
Pga I 23

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

Classifications:



External Ids:

Disease Ontology10 DOID:0050167
Orphanet51 3453
ICD10 via Orphanet28 E31.0
MESH via Orphanet37 C538275
UMLS via Orphanet66 C3494489
UMLS65 C0085859

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: 12/28/2015

MalaCards based summary: Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to autoimmune polyendocrine syndrome type 2 and whitaker syndrome, 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, thyroid and eye, and related mouse phenotypes are behavior/neurological and growth/size/body region.

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 1 Autoimmune Polyendocrine Syndrome Type 2

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune polyendocrine syndrome type 225.5AIRE, CASR, CYP11A1, CYP21A2, DDC, IL17A
2whitaker syndrome11.9
3autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia11.5
4autoimmune polyendocrine syndrome10.7
5primary hyperparathyroidism10.5AIRE, CASR
6autosomal dominant congenital stationary night blindness10.5AIRE, CYP21A2
7atrichia with papular lesions10.5AIRE, CYP21A2
8esophageal varix10.4AIRE, CASR
9spondylocostal dysostosis-anal and genitourinary malformations syndrome10.3CYP11A1, CYP21A2
10breast hemangioma10.3CYP11A1, CYP21A2
11perry syndrome10.3TH, TPH1
12richter's syndrome10.3CYP11A1, CYP21A2
13renal adenoma10.3CYP11A1, CYP21A2
14ethmoid sinus inverted papilloma10.2CYP11A1, CYP21A2
15immunodeficiency, centromere instability and facial anomalies syndrome10.2TH, TPH1
16vernal conjunctivitis10.2AIRE, IL17A
17basal cell carcinoma 710.2CYP11A1, CYP21A2
18penile cancer10.2CYP11A1, CYP21A2
19vulvar disease10.1AIRE, IL17A
20atrioventricular block10.1CYP11A1, CYP21A2
21noonan syndrome 110.1TH, TPH1
22orbital granuloma10.0AIRE, CYP11A1, CYP21A2
23systemic lupus erythematosus10.0
24autoimmune hepatitis10.0
25hepatitis10.0
26hypoparathyroidism10.0
27candidiasis10.0
28chronic mucocutaneous candidiasis10.0
29intestinal disease10.0
30neuronitis10.0
31vasculitis10.0
32lupus erythematosus10.0
33keratopathy10.0
34thymoma10.0
35rheumatoid arthritis9.9
36dilated cardiomyopathy9.9
37juvenile rheumatoid arthritis9.9
38ependymoblastoma9.9DDC, TH
39purpura simplex9.8DDC, TH
40corneal intraepithelial dyskeratosis and ectodermal dysplasia9.8AIRE, DDC
41pulmonary hypertension9.8
42addison's disease9.8
43acute pancreatitis9.7
44pancreatitis9.7
45adrenal cortical adenoma9.7DDC, TH
46autoimmune-related retinopathy and optic neuropathy9.6AIRE, DDC
47avoidant personality disorder9.6AIRE, IL17A
48omenn syndrome9.6
49b-cell lymphomas9.6
50myasthenia gravis9.6

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

UMLS symptoms related to Autoimmune Polyendocrine Syndrome Type 1:


diarrhea

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 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Amphotericin Bapproved, investigationalPhase 21171397-89-314956, 5280965
Synonyms:
12633-72-6
1397-89-3
30782-62-8
5-18-10-00525 (Beilstein Handbook Reference)
54482-28-9
8055-20-7
AB00513832
ABLC
AC1L1CN2
AC1L24V6
AC1L70KF
AC1L73U6
AC1NQXTD
AC1NTQ32
AC1NUQG4
AC1NY9JC
AC1O7GCZ
AC1O8FQV
AC1O8PFK
AI3-26528
AMPH-B
AMPH-b
Abelcet
Abelecet
AmBisome (TN)
Ambap1397-89-3
Ambisome
Amfotericina B
Amfotericina B [INN-Spanish]
Ampho-Moronal
Amphocin
Amphomoronal
Amphortericin B
Amphotec
Amphotec (TN)
Amphotericin
Amphotericin .BETA.
Amphotericin B
Amphotericin B (JP15/USP/INN)
Amphotericin B Cholesterol Dispersion
Amphotericin B Cholesteryl Sulfate Complex
Amphotericin B Colloidal Dispersion
Amphotericin B [USAN:INN:JAN]
Amphotericin B, Lipid-based
Amphotericin B, Streptomyces sp.
Amphotericin-B
Amphotericine B
Amphotericine B [INN-French]
Amphotericinum
Amphotericinum B
Amphotericinum B [INN-Latin]
Amphotherizin
Amphotherizin [German]
Amphotéricine B
Amphozone
BIDD:GT0351
BPBio1_000374
BRN 0078342
BSPBio_000340
C-AmB
C06573
C47H73NO17
CCRIS 5963
CHEBI:2682
CHEMBL1200646
CHEMBL267345
CID10533925
CID10629638
CID10677275
CID14956
 
CID1972
CID352546
CID354192
CID5280965
CID5386092
CID5458486
CID5771695
CID6604295
CID6708817
CID6713692
CID9919339
D00203
DB00681
DivK1c_007045
EINECS 215-742-2
Fungilin
Fungisome
Fungisone
Fungizone
Fungizone (TN)
HMS1569A22
HSDB 3008
HSDB 3008 IAB
Halizon
I06-0257
KBio1_001989
KBio2_000551
KBio2_003119
KBio2_005687
KBioGR_002298
KBioSS_000551
LMPK06000002
LNS-AmB
LS-187721
LS-93
Liposomal Amphotericin B
Liposomal amphotericin b
MLS002702966
MolPort-006-392-260
Mysteclin-F
NCGC00014913
NCGC00090808-01
NCGC00098014-01
NCGC00179595-01
NCI527017
NCI60_004288
NCIStruc1_001042
NCIStruc2_000920
NKTR-024
NS 718
NSC 527017
NSC-527017
NSC527017
Prestwick0_000410
Prestwick1_000410
Prestwick2_000410
Prestwick3_000410
Prestwick_721
SMP1_000302
SMR001566780
SPBio_000715
SPBio_002279
ST50999656
SinuNase
SpecPlus_000949
Spectrum2_000818
Spectrum4_001779
Spectrum_000111
UNII-7XU7A7DROE
amophotericin B
amphotericin B liposomal
amphotericin b
2
Miconazoleapproved, investigationalPhase 2302622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
Desenex
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Makesense
Micantin (nitrate)
Micatin
 
Miconasil Nitrate
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
3AutoantibodiesPhase 2117
4Liposomal amphotericin BPhase 2117
5Antiprotozoal AgentsPhase 21730
6Antiparasitic AgentsPhase 21854
7Anti-Bacterial AgentsPhase 29140
8Antifungal AgentsPhase 23015
9Anti-Infective AgentsPhase 217220

Interventional clinical trials:

idNameStatusNCT IDPhase
1CAMB/MAT2203 in Patients With Mucocutaneous CandidiasisRecruitingNCT02629419Phase 2

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

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

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

33
Skin, Thyroid, Eye, Ovary, Pituitary, Endothelial, T cells

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:00053867.9AIRE, CASR, CYP11A1, DDC, TH, TPH1
2MP:00053786.9AIRE, CASR, CYP11A1, DDC, IL17A, TH
3MP:00053766.6AIRE, 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 29)
idTitleAuthorsYear
1
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. (27219120)
2016
2
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. (26830021)
2016
3
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. (26312540)
2015
4
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. (25475693)
2015
5
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
6
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
7
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
8
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
9
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
10
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. (23342054)
2013
11
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
12
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
13
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
14
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
15
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
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
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
19
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
20
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
21
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
22
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
23
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
24
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
25
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
26
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
27
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
28
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
29
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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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 7)
idNameGO IDScoreTop Affiliating Genes
1anatomical structure morphogenesisGO:00096539.7CASR, TH
2cellular response to glucose stimulusGO:00713339.7CASR, TH
3circadian rhythmGO:00076239.6DDC, TPH1
4sterol metabolic processGO:00161259.5CYP11A1, CYP21A2
5serotonin biosynthetic processGO:00424279.5DDC, TPH1
6indolalkylamine biosynthetic processGO:00462199.3DDC, TPH1
7cellular nitrogen compound metabolic processGO:00346419.1DDC, 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