Autoimmune Polyendocrine Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Orphanet: ⁵⁸ A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4.

MalaCards based summary: Autoimmune Polyendocrine Syndrome, also known as autoimmune polyglandular failure, is related to autoimmune polyendocrine syndrome, type ii and autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia. An important gene associated with Autoimmune Polyendocrine Syndrome is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Innate Immune System and Immune response IL-23 signaling pathway. The drugs Hydroxyurea and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, t cells and thymus, and related phenotypes are homeostasis/metabolism and immune system

Disease Ontology: ¹¹ An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Wikipedia: ⁷⁵ Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) or... more...

Sources

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 708)

#	Related Disease	Score	Top Affiliating Genes
1	autoimmune polyendocrine syndrome, type ii	33.2	NUDT10 GAD2 CCR6 AIRE
2	autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	32.9	GAD2 CYP11A1 CASR AIRE
3	hypoadrenocorticism, familial	31.7	CYP11A1 CCR6 AIRE
4	polyendocrinopathy	31.5	FOXP3 AIRE
5	type 1 diabetes mellitus	31.1	IL17A ICOSLG GAD2 FOXP3 CCR6 AIRE
6	hashimoto thyroiditis	31.0	ICOSLG GAD2 CD4 CCR6 AIRE
7	autoimmune disease	31.0	IL17F IL17A ICOSLG GAD2 FOXP3 CCR6
8	candidiasis	30.9	STAT1 IL17RA IL17F IL17A CLEC7A CARD9
9	vitiligo-associated multiple autoimmune disease susceptibility 1	30.8	IL17A ICOSLG FOXP3 CD4 CCR6 AIRE
10	autoimmune polyendocrine syndrome type 1	30.7	TDRD6 STAT1 NUDT10 NLRP5 KCNRG IL17RA
11	premature menopause	30.7	NUDT10 NLRP5 CYP11A1 CD4 AIRE
12	thrombocytopenic purpura, autoimmune	30.7	ICOSLG CD4 CCR6
13	alopecia areata	30.7	IL17A ICOSLG FOXP3 AIRE
14	psoriasis 11	30.6	IL17RA IL17F IL17A
15	pernicious anemia	30.6	NUDT10 ICOSLG GAD2 CD4 CCR6 AIRE
16	keratitis, hereditary	30.6	IL17A CD4 CCR6
17	immunoglobulin alpha deficiency	30.6	ICOSLG CD4 CCR6
18	autoimmune pancreatitis	30.5	ICOSLG CD4 CCR6
19	immunodysregulation, polyendocrinopathy, and enteropathy, x-linked	30.5	STAT1 IL17A ICOSLG FOXP3 CD4 CCR6
20	autoimmune gastritis	30.5	NUDT10 IL17A ICOSLG FOXP3 CD4 CCR6
21	severe covid-19	30.5	IL17A CD4 CCR6
22	exanthem	30.4	IL17A ICOSLG CD4 CCR6
23	interstitial nephritis	30.4	ICOSLG CD4 CCR6
24	vogt-koyanagi-harada disease	30.4	IL17A ICOSLG CD4 CCR6
25	sclerosing cholangitis	30.4	IL17A ICOSLG CD4 CCR6
26	juvenile rheumatoid arthritis	30.4	ICOSLG CD4 CCR6
27	inflammatory bowel disease 1	30.4	IL17A CCR6 CARD9
28	thrombocytopenia due to platelet alloimmunization	30.3	ICOSLG CD4 CCR6
29	angular cheilitis	30.3	IL17A CD4 AIRE
30	xerophthalmia	30.3	ICOSLG CD4 CCR6
31	igg4-related disease	30.3	ICOSLG CD4 CCR6
32	autoimmune cardiomyopathy	30.3	ICOSLG CD4
33	sialadenitis	30.3	ICOSLG CD4 CCR6
34	psoriasis	30.2	IL17RA IL17F IL17A CD4 CCR6
35	myocarditis	30.2	STAT1 IL17A IL12RB1 CD4
36	cholangitis, primary sclerosing	30.2	IL17A ICOSLG FOXP3 CD4 CCR6 AIRE
37	crescentic glomerulonephritis	30.2	IL17A ICOSLG CD4 CCR6
38	chickenpox	30.1	STAT1 IL17A CD4 CCR6
39	mucormycosis	30.1	CLEC7A CD4 CCR6 CARD9
40	anterior uveitis	30.1	IL17A ICOSLG CD4 CCR6
41	colitis	30.1	IL17RA IL17A ICOSLG FOXP3 CD4 CCR6
42	spondyloarthropathy 1	30.1	IL17F IL17A ICOSLG CD4 CCR6
43	celiac disease 1	30.0	STAT1 NUDT10 IL17A ICOSLG GAD2 FOXP3
44	oral candidiasis	30.0	IL17RA IL17F IL17A IL12RB1 CLEC7A CD4
45	systemic scleroderma	30.0	IL17A ICOSLG FOXP3 CD4 CCR6
46	sarcoidosis 1	29.9	STAT1 IL17A IL12RB1 ICOSLG CD4 CCR6
47	crohn's disease	29.9	IL17F IL17A ICOSLG FOXP3 CD4 CCR6
48	viral infectious disease	29.8	STAT1 IL17A ICOSLG CD4 CCR6
49	peripheral nervous system disease	29.8	IL17A ICOSLG GAD2 FOXP3 CD4 CCR6
50	connective tissue disease	29.8	STAT1 IL17F IL17A ICOSLG FOXP3 CD4

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

Sources

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.2	AIRE CARD9 CASR CCR6 CD4 CLEC7A
2	immune system	MP:0005387	10.06	AIRE CARD9 CASR CCR6 CD4 CLEC7A
3	digestive/alimentary	MP:0005381	9.91	AIRE CASR CD4 CLEC7A FOXP3 GAD2
4	respiratory system	MP:0005388	9.56	AIRE CLEC7A FOXP3 GAD2 IL17A IL17F
5	hematopoietic system	MP:0005397	9.5	AIRE CARD9 CASR CCR6 CD4 CLEC7A

Sources

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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

(show all 18)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Hydroxyurea

Approved

Phase 2

127-07-1

3657

2

Racepinephrine

Approved, Vet_approved

51-43-4, 329-65-7

838 5816

Synonyms:

(−)-(R)-epinephrine

(-)-(R)-Epinephrine

(-)-3,4-Dihydroxy-a-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-a-[(methylamino)methyl]-benzyl alcohol

(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol

(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-alpha-[(methylamino)methyl]-benzyl alcohol

(-)-3,4-DIHYDROXY-ALPHA-[(METHYLAMINO)METHYL]BENZYL ALCOHOL(-)-3,4-DIHYDROXY-ALPHA-[(METHYLAMINO)METHYL]-BENZYL ALCOHOL

(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol

(−)-3,4-dihydroxy-α-((methylamino)methyl)benzyl alcohol

(-)-3,4-Dihydroxy-α-((methylamino)methyl)benzyl alcohol

(-)-Adrenaline

(−)-ADRENALINE

(-)-Epinephrine

(+-)-Adrenaline

(+-)-Epinephrine

(R)-(-)-Adnephrine

(R)-(-)-Adrenaline

(R)-(−)-ADRENALINE

(R)-(-)-Epinephrine

(R)-(-)-Epirenamine

(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol

(R)-Adrenaline

(R)-Epinephrine

2-(Methylamino)-1-(3,4-dihydroxyphenyl)ethanol

4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol

4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol

4-[(1R)-1-HYDROXY-2-METHYLAMINOETHYL]BENZENE-1,2-DIOL

4-[(1R)-1-HYDROXY-2-METHYLAMINO-ETHYL]BENZENE-1,2-DIOL

4-[(1R)-1-HYDROXY-2-METHYLAMINO-ETHYL]PYROCATECHOL

Acetate, epinephrine

Adnephrine

ADREN CO

ADRENACLICK

Adrenal

Adrenalin

Adrenaline

Adrénaline

Adrenaline acid tartrate

Adrenaline bitartrate

Adrenaline hydrochloride

Adrenaline hydrochloride, racemic mixture

Adrenaline, racemic

Adrenaline, racemic mixture

adrenaline|epinephrine

Adrenine

Adrin

Allergan brand OF adrenaline hydrochloride

ANA-GUARD

Ana-kit

ANAPEN

ANAPHYLACTIC SHOCK DRUG KIT

ASMA-VYDRIN

ASTHMAHALER

Auvi-Q

Bird brand OF racepinefrine hydrochloride

Bosmin

Bronkaid mist

BROVON

Chelafrin

DL-Adrenaline

EMERADE

EPI E Z PEN JR

Epifrin

Epiglaufrin

Epinefrin

Epinefrina

Epinephran

Epinephrin

EPINEPHRINE

Epinephrine acetate

Epinephrine bitartrate

EPINEPHRINE HCL

Epinephrine hydrochloride

Epinephrine hydrochloride, racemic mixture

Epinephrine hydrogen tartrate

Epinephrine racemic

Epinephrine, racemic

Epinephrine, racemic mixture

Epinephrinum

Epipen

EPIPEN E Z PEN

Epipen JR

EPIPEN JR.

Epirenan

Epitrate

Eppy

Exadrin

Glauposine

GPPE INH SOLN

Hemisine

Hemostasin

Hemostatin

Hydrochloride, racepinephrine

Hypernephrin

Isoptoepinal

JEXT

L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol

L-Adrenaline

L-DETHYLAMINOETHANOLCATECHOL

L-Epinephrine

L-Epirenamine

Levoepinephrine

LEVO-METHYLAMINOETHANOLCATECHOL

Levorenen

Levorenin

Levorenine

Levoreninum

L-Methylaminoethanolcatechol

Lyodrin

Lyophrin

Medihaler-epi

Methylarterenol

Micronefrin

Micronephrine

Mixture adrenaline, racemic

Mixture epinephrine, racemic

Mucidrina

Nephridine

Nieraline

NSC-62786

Paranephrin

Primatene

Primatene mist

R-(-)-Epinephrine

Racemic adrenaline

Racemic epinephrine

Racemic mixture adrenaline

Racemic mixture epinephrine

Racepinefrina

Racepinefrine

Racepinefrinum

Racepinephrine

Racepinephrine hydrochloride

Renaglandin

Renaleptine

Renalina

Renoform

Renostypticin

Renostyptin

RIDDOBRON

RIDDOFAN

RYBARVIN

Scurenaline

Simplene

SOLN MADE TO RYBARVIN FOR

Styptirenal

Supracapsulin

Supranephrane

Suprarenaline

Suprarenin

Surrenine

Sus-phrine

SUS-PHRINE SULFITE FREE

SUS-PHRINE SULFITE-FREE

SYMJEPI

Takamina

TWINJECT

TWINJECT 0.15

TWINJECT 0.3

Vaponefrin

Vasoconstrictine

Vasotonin

3

Miconazole

Approved, Investigational, Vet_approved

22916-47-8

4189

4

Clotrimazole

Approved, Vet_approved

23593-75-1

2812

5

D-Tyrosine

Approved, Experimental, Investigational, Nutraceutical

133585-56-5, 60-18-4, 556-02-5

1153 6057

Synonyms:

(-)-a-Amino-p-hydroxyhydrocinnamate

(-)-a-Amino-p-hydroxyhydrocinnamic acid

(-)-alpha-Amino-p-hydroxyhydrocinnamate

(-)-alpha-Amino-p-hydroxyhydrocinnamic acid

(-)-Α-amino-p-hydroxyhydrocinnamate

(−)-α-amino-p-hydroxyhydrocinnamic acid

(-)-Α-amino-p-hydroxyhydrocinnamic acid

(2S)-2-Amino-3-(4-hydroxyphenyl)propanoate

(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid

(2S)-2-AMINO-3-(4-HYDROXYPHENYL)PROPIONIC ACID

(2S)-2-AZANYL-3-(4-HYDROXYPHENYL)PROPANOIC ACID

(R)-2-Amino-3-(p-hydroxyphenyl)propionic acid

(R)-3-(p-Hydroxyphenyl)alanine

(S)-(-)-Tyrosine

(S)-2-Amino-3-(p-hydroxyphenyl)propionate

(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid

(S)-3-(p-Hydroxyphenyl)alanine

(S)-a-Amino-4-hydroxybenzenepropanoate

(S)-a-Amino-4-hydroxy-benzenepropanoate

(S)-a-Amino-4-hydroxybenzenepropanoic acid

(S)-a-Amino-4-hydroxy-benzenepropanoic acid

(S)-alpha-Amino-4-hydroxybenzenepropanoate

(S)-alpha-Amino-4-hydroxy-benzenepropanoate

(S)-alpha-amino-4-Hydroxybenzenepropanoic acid

(S)-alpha-Amino-4-hydroxy-benzenepropanoic acid

(S)-Tyrosine

(S)-Α-amino-4-hydroxybenzenepropanoate

(S)-α-amino-4-hydroxybenzenepropanoic acid

2-Amino-3-(4-hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoate

2-Amino-3-(4-hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoic acid

2-Amino-3-(4-hydroxyphenyl)propanoate

2-Amino-3-(4-hydroxyphenyl)propanoic acid

2-Amino-3-(p-hydroxyphenyl)propionate

2-Amino-3-(p-hydroxyphenyl)propionic acid

3-(4-Hydroxyphenyl)-L-alanine

3-(p-Hydroxyphenyl)alanine

4-hydroxy-L-phenylalanine

6-Hydroxysandoricin

Benzenepropanoate

Benzenepropanoic acid

D-Tyr

D-Tyrosin

FEMA NO. 3736

L Tyrosine

LEVODOPA IMPURITY, L-TYROSINE-

LEVODOPA RELATED COMPOUND L-TYROSINE

L-p-Tyrosine

L-Tyrosin

L-tyrosine

Methyl 2-[5,11-bis(acetyloxy)-13-(furan-3-yl)-16-hydroxy-6,6,8,12-tetramethyl-17-methylidene-15-oxo-2,14-dioxatetracyclo[7.7.1.0¹,¹².0³,⁸]heptadecan-7-yl]-2-hydroxyacetic acid

NSC-82624

Para tyrosine

Para-tyrosine

p-Tyrosine

Tirosina

Tyr

Tyrosin

Tyrosine

Tyrosine, L isomer

Tyrosine, L-isomer

Tyrosinum

Y

6

Tryptophan

Approved, Nutraceutical, Withdrawn

73-22-3

6305

Synonyms:

(-)-Tryptophan

(2S)-2-Amino-3-(1H-indol-3-yl)propanoate

(2S)-2-Amino-3-(1H-indol-3-yl)propanoic acid

(L)-Tryptophan

(S)-1H-Indole-3-alanine

(S)-2-AMINO-3-(1H-INDOL-3-YL)PROPANOIC ACID

(S)-2-Amino-3-(3-indolyl)propionic acid

(S)-a-Amino-1H-indole-3-propanoate

(S)-a-Amino-1H-indole-3-propanoic acid

(S)-a-Amino-b-(3-indolyl)-propionate

(S)-a-Amino-b-(3-indolyl)-propionic acid

(S)-a-Amino-b-indolepropionate

(S)-a-Amino-b-indolepropionic acid

(S)-a-Aminoindole-3-propionate

(S)-a-Aminoindole-3-propionic acid

(S)-alpha-Amino-1H-indole-3-propanoate

(S)-alpha-Amino-1H-indole-3-propanoic acid

(S)-alpha-Amino-beta-(3-indolyl)-propionate

(S)-alpha-Amino-beta-(3-indolyl)-propionic acid

(S)-alpha-Amino-beta-indolepropionate

(S)-alpha-Amino-beta-indolepropionic acid

(S)-alpha-Aminoindole-3-propionate

(S)-alpha-Aminoindole-3-propionic acid

(S)-Tryptophan

(S)-Α-amino-1H-indole-3-propanoate

(S)-Α-amino-1H-indole-3-propanoic acid

(S)-Α-amino-β-(3-indolyl)-propionate

(S)-Α-amino-β-(3-indolyl)-propionic acid

1beta-3-Indolylalanine

1-beta-3-Indolylalanine

1H-Indole-3-alanine

2-Amino-3-indolylpropanoate

2-Amino-3-indolylpropanoic acid

3-(1H-indol-3-yl)-L-Alanine

3-indol-3-Ylalanine

Alpha'-amino-3-indolepropionic acid

alpha-Amino-beta-(3-indolyl)-propionic acid

alpha-Aminoindole-3-propionic acid

Alti-Tryptophan

Ardeydorm

Ardeypharm brand OF tryptophan

Ardeytropin

Esparma brand OF tryptophan

GPPE PDR SACH

H-TRP-OH

ICN brand OF tryptophan

Indole-3-alanine

Kalma

Kalma brand OF tryptophan

L Tryptophan

L Tryptophan ratiopharm

L-(-)-Tryptophan

L(-)-TRYPTOPHAN

L-(−)-TRYPTOPHAN

l-a-Aminoindole-3-propionic acid

L-alpha-Amino-3-indolepropionic acid

L-alpha-Aminoindole-3-propionic acid

L-b-3-Indolylalanine

L-beta-3-Indolylalanine

Levotryptophan

Lopac-T-0254

L-TRP

L-Tryptofan

L-TRYPTOPHAN

L-Tryptophane

L-Tryptophan-ratiopharm

Lyphan

L-Β-3-indolylalanine

Merck brand OF tryptophan

Naturruhe

Niddapharm brand OF tryptophan

NSC-13119

Optimax

OPTIMAX WV

Pacitron

Pharmascience brand OF tryptophan

PMS Tryptophan

PMS-Tryptophan

Ratio tryptophan

Ratiopharm brand OF tryptophan

Ratio-tryptophan

Sedanoct

Triptofano

Trofan

Trp

Tryptacin

Tryptan

Tryptophan

Tryptophan metabolism alterations

TRYPTOPHAN, L-

Tryptophane

Tryptophanum

Upsher-smith brand OF tryptophan

W

7

Glutamic acid

Approved, Nutraceutical

56-86-0

33032

Synonyms:

(+)-Estrone

(1S)-2-[(3-O-b-D-Glucopyranosyl-b-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoate

(1S)-2-[(3-O-b-D-Glucopyranosyl-b-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoic acid

(1S)-2-[(3-O-beta-D-Glucopyranosyl-beta-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoic acid

(1S)-2-[(3-O-Β-D-glucopyranosyl-β-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoate

(1S)-2-[(3-O-Β-D-glucopyranosyl-β-D-galactopyranosyl)oxy]-1-{[(9E)-octadec-9-enoyloxy]methyl}ethyl (10E)-nonadec-10-enoic acid

(2R)-2,3-Dihydroxypropanoic acid

(2S)-2-Aminopentanedioate

(2S)-2-Aminopentanedioic acid

(3R,4S,5R)-5-[(1R)-1-Carboxy-2,2-difluoro-1-(phosphonooxy)ethoxy]-4-hydroxy-3-(phosphonooxy)cyclohex-1-ene-1-carboxylate

(R)-2,3-Dihydroxypropanoic acid

(R)-Glycerate

(R)-Glyceric acid

(S)-(+)-Glutamate

(S)-(+)-Glutamic acid

(S)-2-Aminopentanedioate

(S)-2-Aminopentanedioic acid

(S)-Glutamate

(S)-Glutamic acid

1,3,5(10)-Estratrien-3-ol-17-one

1-Amino-2-hydroxyethane

1-Aminopropane-1,3-dicarboxylate

1-Amino-propane-1,3-dicarboxylate

1-Aminopropane-1,3-dicarboxylic acid

1-Amino-propane-1,3-dicarboxylic acid

2 Acetamido 2 deoxy D glucose

2 Acetamido 2 deoxyglucose

2 Aminoethanol

2-Acetamido-2-deoxy-D-glucose

2-Acetamido-2-deoxyglucose

2-Amino-1-ethanol

2-Aminoethan-1-ol

2-Aminoethanol

2-Amino-ethanol

2-Aminoethyl alcohol

2-Aminoglutarate

2-Aminoglutaric acid

2-Aminopentanedioate

2-Aminopentanedioic acid

2-Ethanolamine

2-Hydroxyethanamine

2-Hydroxyethylamine

3a,7a,12a-Trihydroxy-5b-cholan-24-oylglycine

3alpha,7alpha,12alpha-Trihydroxy-5beta-cholan-24-oylglycine

3alpha,7alpha,12alpha-Trihydroxy-5beta-cholanic acid-24-glycine

3alpha,7alpha,12alpha-Trihydroxy-N-(carboxymethyl)-5beta-cholan-24-amide

3-Hydroxy-1,3,5(10)-estratrien-17-one

3-Hydroxy-17-keto-estra-1,3,5-triene

3-Hydroxyestra-1,3,5(10)-trien-17-one

3-Hydroxyestra-1,3,5(10)-triene-17-one

3-Hydroxyoestra-1,3,5(10)-trien-17-one

3Α,7α,12α-trihydroxy-5β-cholan-24-oylglycine

3Α,7α,12α-trihydroxy-5β-cholanic acid-24-glycine

3Α,7α,12α-trihydroxy-N-(carboxymethyl)-5β-cholan-24-amide

a,b-Hydroxypropionate

a,b-Hydroxypropionic acid

a-Aminoglutarate

a-Aminoglutaric acid

Acetylglucosamine

Acide glutamique

Acido glutamico

ácido glutámico

Acidum glutamicum

Aciglut

Aethanolamin

a-Glutamate

a-Glutamic acid

alpha,beta-Hydroxypropionate

alpha,beta-Hydroxypropionic acid

alpha-Aminoglutarate

alpha-Aminoglutaric acid

alpha-Glutamate

alpha-Glutamic acid

Aluminum L glutamate

Aluminum L-glutamate

Aminoethanol

Aminoglutarate

Aminoglutaric acid

b-Aminoethanol

b-Aminoethyl alcohol

beta-Aminoethanol

beta-Aminoethyl alcohol

beta-Ethanolamine

beta-Hydroxyethylamine

b-Ethanolamine

b-Hydroxyethylamine

Cholylglycine

Colamine

D Glutamate

D1,3,5(10)-Estratrien-3-ol-17-one

D-2,3-Dihydroxypropanoic acid

D-GlcNAc

D-Glutamate

D-Glycerate

D-Glyceric acid

D-GroA

E

E 620

E620

E-620

Envision conditioner PDD 9020

Estrone, (+-)-isomer

Estrone, (8 alpha)-isomer

Estrone, (9 beta)-isomer

Estrovarin

ETA

Ethylolamine

FEMA NO. 3285

Follicular hormone

Folliculin

Glt

Glu

Glusate

Glut

Glutacid

Glutamate

Glutamate, potassium

GLUTAMIC ACID

Glutamic acid, (D)-isomer

Glutamicol

Glutamidex

Glutaminate

Glutaminic acid

Glutaminol

Glutaton

Glycerate

Glycine cholate

Glycinol

Glycocholate

Glycocholate sodium

Glycocholic acid, sodium salt

Glycoreductodehydrocholic acid

Glycylcholate

Glycylcholic acid

Hauck brand OF estrone

Hea

H-Glycinol

Hyrex brand OF estrone

INS NO.620

INS-620

Kestrone

L Glutamate

L Glutamic acid

L-(+)-Glutamate

L-(+)-Glutamic acid

L-a-Aminoglutarate

L-a-Aminoglutaric acid

L-alpha-Aminoglutarate

L-alpha-Aminoglutaric acid

L-Glu

L-Glu|L-glutamate|poly-L-glutamate

L-GLUTAMATE

L-Glutamate, aluminum

L-GLUTAMIC ACID

L-Glutaminate

L-Glutaminic acid

L-Glutaminsaeure

MEA

Monoaethanolamin

MONOETHANOLAMINE

N Acetyl D glucosamine

N-(Carboxymethyl)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-amide

N-(Carboxymethyl)-3α,7α,12α-trihydroxy-5β-cholan-24-amide

N-[(3a,5b,7a,12a)-3,7,12-Trihydroxy-24-oxocholan-24-yl]glycine

N-[(3alpha,5beta,7alpha,12alpha)-3,7,12-Trihydroxy-24-oxocholan-24-yl]glycine

N-[(3Α,5β,7α,12α)-3,7,12-trihydroxy-24-oxocholan-24-yl]glycine

N-Acetylchitosamine

N-Acetyl-D-glucosamine

N-Choloylglycine

N-Choloyl-glycine

NSC-143503

Oestrone

Olamine

Potassium glutamate

R-Glycerate

R-Glyceric acid

Unigen

Vortech brand OF estrone

Wehgen

Α,β-hydroxypropionate

Α,β-hydroxypropionic acid

Β-aminoethanol

Β-aminoethyl alcohol

Β-ethanolamine

Β-hydroxyethylamine

8

Immunologic Factors

9

Dopa Decarboxylase

10

Immunoglobulins

11

Antibodies

12

Autoantibodies

13

Anti-Bacterial Agents

14

Epinephryl borate

15

Antifungal Agents

16

Antibiotics, Antitubercular

17

Tin Fluorides

18

D-Leucine

Experimental, Investigational, Nutraceutical

328-38-1, 61-90-5

439524 6106

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 2 Open-Label Study to Evaluate the Efficacy and Safety of Ruxolitinib on Hair Regrowth in Patients With Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)-Associated Alopecia Areata	Recruiting	NCT05398809	Phase 2	Ruxolitinib
2	Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome	Unknown status	NCT03751683
3	Tyrosine Hydroxylase Antibody Levels in Autoimmune Polyglandular Syndrome Type 1 Associated Keratitis	Completed	NCT04375852
4	Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome	Completed	NCT02421276
5	Prevalence and Genetic Alternation of Autoimmune Polyglandular Syndrome Type II in Taiwan	Recruiting	NCT05578105
6	Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2	Recruiting	NCT03800056

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome

Cochrane evidence based reviews: polyendocrinopathies, autoimmune

Sources

Genetic Tests for Autoimmune Polyendocrine Syndrome

Sources

Anatomical Context for Autoimmune Polyendocrine Syndrome

Organs/tissues related to Autoimmune Polyendocrine Syndrome:

MalaCards : Thyroid, T Cells, Thymus, Pituitary, B Cells, Liver, Kidney

Sources

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

(show top 50) (show all 1272)

#	Title	Authors	PMID	Year
1	Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED)--a diagnostic and therapeutic challenge. ⁵³ ⁶²	Jaaskelainen J...Perheentupa J	20118890	2009
2	Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. ⁵³ ⁶²	Faiyaz-Ul-Haque M...Zaidi SH	19758376	2009
3	Clearing the AIRE: on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1. ⁵³ ⁶²	Shikama N...Hollander GA	19328411	2009
4	Pattern recognition receptor expression is not impaired in patients with chronic mucocutanous candidiasis with or without autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. ⁵³ ⁶²	Hong M...Lilic D	19196253	2009
5	Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED. ⁵³ ⁶²	Ryan KR...Lilic D	19037923	2008
6	Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes. ⁵³ ⁶²	Kisand K...Peterson P	18606876	2008
7	The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. ⁵³ ⁶²	Org T...Peterson P	18292755	2008
8	Graft-versus-host-like disease complicating thymoma: lack of AIRE expression as a cause of non-hereditary autoimmunity? ⁵³ ⁶²	Offerhaus GJ...van Noesel CJ	17928069	2007
9	Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1). ⁵³ ⁶²	Strobel P...Marx A	17334980	2007
10	Ocular complications of autoimmune polyendocrinopathy syndrome type 1. ⁵³ ⁶²	Chang B...Costigan C	17189144	2006
11	Ets transcription factors regulate AIRE gene promoter. ⁵³ ⁶²	Murumagi A...Peterson P	16890195	2006
12	Expression profiling of autoimmune regulator AIRE mRNA in a comprehensive set of human normal and neoplastic tissues. ⁵³ ⁶²	Klamp T...Tureci O	16876259	2006
13	Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. ⁵³ ⁶²	Meager A...Willcox N	16784312	2006
14	Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients. ⁵³ ⁶²	Turunen JA...Groop PH	16552513	2006
15	Disruption of immunological tolerance: role of AIRE gene in autoimmunity. ⁵³ ⁶²	Rizzi M...Indiveri F	16431348	2006
16	The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin alpha molecules. ⁵³ ⁶²	Ilmarinen T...Eskelin P	16403019	2006
17	Immunodeficiencies with autoimmune consequences. ⁵³ ⁶²	Notarangelo LD...Badolato R	16682278	2006
18	Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. ⁵³ ⁶²	Ilmarinen T...Ulmanen I	16114041	2005
19	Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. ⁵³ ⁶²	Peterson P...Peltonen L	16290093	2005
20	AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy. ⁵³ ⁶²	Notarangelo LD...Buzi F	15640689	2004
21	Autoimmune regulator induced changes in the gene expression profile of human monocyte-dendritic cell-lineage. ⁵³ ⁶²	Sillanpaa N...Peterson P	15482854	2004
22	Calcium-sensing receptor autoantibodies are relevant markers of acquired hypoparathyroidism. ⁵³ ⁶²	Mayer A...Fabien N	15356052	2004
23	APECED-causing mutations in AIRE reveal the functional domains of the protein. ⁵³ ⁶²	Halonen M...Eskelin P	14974083	2004
24	Life-threatening autoimmunity with diabetes: management with an insulin pump. ⁵³ ⁶²	Franklin VL...Greene S	14655274	2003
25	Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter. ⁵³ ⁶²	Murumagi A...Peterson P	12651856	2003
26	Autoimmune regulator: from loss of function to autoimmunity. ⁵³ ⁶²	Pitkanen J...Peterson P	12595897	2003
27	Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. ⁵³ ⁶²	Tazi-Ahnini R...Messenger AG	12542742	2002
28	A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. ⁵³ ⁶²	Sato K...Takano K	12625412	2002
29	APECED mutations in the autoimmune regulator (AIRE) gene. ⁵³ ⁶²	Heino M...Krohn K	11524731	2001
30	Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). ⁵³ ⁶²	Halonen M...Kolmer M	11156688	2001
31	Adrenal autoimmunity: results and developments. ⁵³ ⁶²	Peterson P...Krohn KJ	10920386	2000
32	3beta-hydroxysteroid dehydrogenase autoantibodies are rare in premature ovarian failure. ⁵³ ⁶²	Reimand K...Krohn KJ	10852471	2000
33	Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire). ⁵³ ⁶²	Shi JD...She JX	10593569	1999
34	A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. ⁵³ ⁶²	Pearce SH...Kendall-Taylor P	9837820	1998
35	Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. ⁵³ ⁶²	Scott HS...Antonarakis SE	9465297	1998
36	Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination. ⁶²	Sokal A...Mahevas M	36342455	2023
37	Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. ⁶²	Sjogren T...Wolff ASB	36191466	2022
38	Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report. ⁶²	Zhu H...Yu GY	35870793	2022
39	Autoimmune Polyglandular Syndrome with Refractory Gait Disturbance. ⁶²	Takeuchi Y...Ueda M	36450465	2022
40	Umbilical Cord-Derived Mesenchymal Stem Cells for the Treatment of Infertility Due to Premature Ovarian Failure. ⁶²	Garg K...Zilate S	36415442	2022
41	Autoimmune regulator (AIRE): Takes a hypoxia-inducing factor 1A (HIF1A) route to regulate FOXP3 expression in PCOS. ⁶²	Padmanabhan RA...Laloraya M	36305192	2022
42	A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation. ⁶²	Radetti G...Betterle C	36251243	2022
43	Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology. ⁶²	Ferrigno R...Klain A	36309634	2022
44	Oral manifestations of autoimmune polyglandular syndrome type 1. ⁶²	Tenorio JR...Gallottini M	35182449	2022
45	[Just Anorexia?] ⁶²	Schafroth C...Oestmann A	36102024	2022
46	Autoimmune Polyglandular Syndrome Type 1: A Report of Rare Case of a 16-Year-Old Asian Female Patient With Respiratory Manifestations. ⁶²	Zainab K...Bisharat P	36072782	2022
47	Ocular Sarcoidosis and Autoimmune Polyglandular Syndrome Type 2: A Case Report. ⁶²	Pinheiro RL...Proenca RDMB	36126065	2022
48	New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden. ⁶²	Bugala NM...Alexandru DO	36140482	2022
49	Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach. ⁶²	Bjorklund G...Pivina L	35690244	2022
50	Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review. ⁶²	Domingues-Ferreira M...Auler ME	35597148	2022

Sources

Genes for Autoimmune Polyendocrine Syndrome

Genes related to Autoimmune Polyendocrine Syndrome (0 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AIRE	Autoimmune Regulator	Protein Coding	39.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15640689 16290093 12625412 (more) 11156688 14655274 16552513 17928069 16682278 9465297 12595897 17334980 12651856 12542742 18292755 16876259 14974083 11524731 17189144 16431348 9837820 10593569 19758376 19037923 16890195 16403019 16114041 15482854 16784312 10920386 18606876 19196253 19328411 20118890
2	TDRD6	Tudor Domain Containing 6	Protein Coding	22.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
3	FOXP3	Forkhead Box P3	Protein Coding	15.58	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19122524 16682278 15703687
4	CASR	Calcium Sensing Receptor	Protein Coding	12.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15356052
5	CYP11A1	Cytochrome P450 Family 11 Subfamily A Member 1	Protein Coding	12.24	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10852471
6	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	9.87	DISEASES inferred ¹⁴ ¹⁴
7	NUDT10	Nudix Hydrolase 10	Protein Coding	8.31	DISEASES inferred ¹⁴
8	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	7.42	DISEASES inferred ¹⁴ ¹⁴
9	IL17F	Interleukin 17F	Protein Coding	7.23	DISEASES inferred ¹⁴
10	NLRP5	NLR Family Pyrin Domain Containing 5	Protein Coding	6.96	DISEASES inferred ¹⁴
11	CARD9	Caspase Recruitment Domain Family Member 9	Protein Coding	6.88	DISEASES inferred ¹⁴
12	IL17A	Interleukin 17A	Protein Coding	6.67	DISEASES inferred ¹⁴
13	KCNRG	Potassium Channel Regulator	Protein Coding	6.63	DISEASES inferred ¹⁴
14	IL17RA	Interleukin 17 Receptor A	Protein Coding	6.62	DISEASES inferred ¹⁴
15	GAD2	Glutamate Decarboxylase 2	Protein Coding	6.49	DISEASES inferred ¹⁴
16	EGLN2	Egl-9 Family Hypoxia Inducible Factor 2	Protein Coding	6.39	DISEASES inferred ¹⁴
17	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	6.37	DISEASES inferred ¹⁴
18	CLEC7A	C-Type Lectin Domain Containing 7A	Protein Coding	6.31	DISEASES inferred ¹⁴
19	CD4	CD4 Molecule	Protein Coding	6.26	DISEASES inferred ¹⁴
20	IL12RB1	Interleukin 12 Receptor Subunit Beta 1	Protein Coding	6.18	DISEASES inferred ¹⁴
21	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	6.14	DISEASES inferred ¹⁴
22	IFNA1	Interferon Alpha 1	Protein Coding	6.13	DISEASES inferred ¹⁴
23	FEZF2	FEZ Family Zinc Finger 2	Protein Coding	6.1	DISEASES inferred ¹⁴
24	IL22	Interleukin 22	Protein Coding	6.04	DISEASES inferred ¹⁴
25	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	6.02	DISEASES inferred ¹⁴
26	TG	Thyroglobulin	Protein Coding	6	DISEASES inferred ¹⁴
27	PTPN22	Protein Tyrosine Phosphatase Non-Receptor Type 22	Protein Coding	6	DISEASES inferred ¹⁴

Sources

Variations for Autoimmune Polyendocrine Syndrome

Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	159448	21	42600000	48129895	Deletion	AIRE	Autoimmune polyendocrine syndrome

Sources

Expression for Autoimmune Polyendocrine Syndrome

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

Sources

Pathways for Autoimmune Polyendocrine Syndrome

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.73	STAT1 IL17RA IL17F IL17A IL12RB1 ICOSLG
2	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ⁶¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ⁶¹ Immune response IL-10 signaling pathway ²² RAC1/PAK1/p38/MMP2 pathway ⁷⁴	12.33	STAT1 IL17F IL17A IL12RB1 CD4
3	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.75	STAT1 IL12RB1 CD4
4	Interleukin-4 and Interleukin-13 signaling ⁶⁶	11.72	STAT1 IL17F IL17A
5	IL27-mediated signaling events ⁶¹ Show member pathways IL12 signaling pathway ⁶⁷ Th1 Differentiation ⁶⁵	11.65	STAT1 IL17F IL17A IL12RB1 CD4
6	Allograft rejection ⁷⁴	11.6	STAT1 IL17A FOXP3
7	Innate Lymphoid Cells Differentiation ⁶⁵	11.57	CCR6 CD4 IL12RB1 IL17A
8	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.52	IL17RA IL17F IL17A IL12RB1 FOXP3
9	Inflammatory bowel disease signaling ⁷⁴ Show member pathways Ulcerative colitis signaling ⁷⁴	11.39	STAT1 IL17F IL12RB1 FOXP3
10	Th17 cell differentiation pathway ⁷⁴	11.19	STAT1 IL17F IL17A FOXP3 CD4
11	Th17 Differentiation ⁶⁵ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.06	STAT1 IL17RA IL17F IL17A IL12RB1 CD4
12	Selective expression of chemokine receptors during T-cell polarization ⁷⁴	10.67	IL12RB1 CD4
13	Endothelial cell senescence ⁷⁴	10.13	IL17RA IL17A

Sources

GO Terms for Autoimmune Polyendocrine Syndrome

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	adaptive immune response	GO:0002250	10.21	IL17RA IL17F IL17A ICOSLG CD4 CARD9
2	T cell activation	GO:0042110	10.01	ICOSLG FOXP3 CLEC7A CD4
3	immune system process	GO:0002376	9.98	IL17RA IL17F IL17A ICOSLG CLEC7A CD4
4	positive regulation of interleukin-6 production	GO:0032755	9.96	IL17RA IL17F IL17A CLEC7A CARD9
5	positive regulation of T-helper 17 type immune response	GO:2000318	9.85	CARD9 CLEC7A IL12RB1
6	fibroblast activation	GO:0072537	9.8	IL17RA IL17A
7	interleukin-17-mediated signaling pathway	GO:0097400	9.8	IL17RA IL17F IL17A
8	regulation of interleukin-2 production	GO:0032663	9.78	IL17F CARD9
9	positive regulation of antimicrobial peptide production	GO:0002225	9.76	IL17F IL17A
10	positive regulation of interleukin-23 production	GO:0032747	9.63	CLEC7A IL17A IL17RA
11	positive regulation of chemokine (C-X-C motif) ligand 1 production	GO:2000340	9.43	IL17RA IL17F IL17A
12	positive regulation of cytokine production involved in inflammatory response	GO:1900017	9.32	IL17RA IL17F IL17A CLEC7A CARD9

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein homodimerization activity	GO:0042803	9.47	STAT1 IL17F IL17A FOXP3 CD4 CASR

Sources

Sources for Autoimmune Polyendocrine Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

APS MCID: ATM019 MIFTS: 47	Autoimmune Polyendocrine Syndrome (APS) Categories: Endocrine diseases, Immune diseases, Rare diseases, Reproductive diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables

Autoimmune Polyendocrine Syndrome (APS)

Aliases & Classifications for Autoimmune Polyendocrine Syndrome

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome:

Classifications:

External Ids:

Summaries for Autoimmune Polyendocrine Syndrome

Related Diseases for Autoimmune Polyendocrine Syndrome

Diseases in the Autoimmune Polyendocrine Syndrome family:

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

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

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome:

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: polyendocrinopathies, autoimmune

Genetic Tests for Autoimmune Polyendocrine Syndrome

Anatomical Context for Autoimmune Polyendocrine Syndrome

Organs/tissues related to Autoimmune Polyendocrine Syndrome:

Publications for Autoimmune Polyendocrine Syndrome

Articles related to Autoimmune Polyendocrine Syndrome:

Genes for Autoimmune Polyendocrine Syndrome

Genes related to Autoimmune Polyendocrine Syndrome (0 elite genes):

Variations for Autoimmune Polyendocrine Syndrome

Copy number variations for Autoimmune Polyendocrine Syndrome from CNVD:

Expression for Autoimmune Polyendocrine Syndrome

Pathways for Autoimmune Polyendocrine Syndrome

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

GO Terms for Autoimmune Polyendocrine Syndrome

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

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

Sources for Autoimmune Polyendocrine Syndrome