MCID: ATM033
MIFTS: 51

Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia malady

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

Aliases & Classifications for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:

Name: Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 51 12
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 11 47 24 25 69
Autoimmune Polyendocrine Syndrome Type 1 11 47 53 13
Aps1 24 25 53 69
Autoimmune Polyendocrinopathy Syndrome Type 1 47 24 25
Apeced 25 69 49
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 47 69
Polyglandular Type I Autoimmune Syndrome 25 67
Polyglandular Autoimmune Syndrome Type I 69 26
Autoimmune Polyglandular Syndrome Type 1 47 53
Aps Type 1 25 53
Pga I 25 69
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 51
Autoimmune Polyendocrine Syndrome 1, with or Without Reversible Metaphyseal Dysplasia 69
Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison's Disease Syndrome 53
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 25
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome 53
Hypoparathyroidism-Addison's Disease-Mucocutaneous Candidiasis Syndrome 53
Multiple Endocrine Deficiency-Addison's Disease-Candidiasis Syndrome 53
 
Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I 69
Polyglandular Deficiency Syndrome Persian-Jewish Type 69
Autoimmune Polyendocrinopathy Syndrome Type I 69
Autoimmune Polyglandular Syndrome, Type 1 25
Polyglandular Autoimmune Syndrome, Type 1 25
Polyglandular Autoimmune Syndrome Type 1 47
Autoimmune Polyendocrine Syndrome Type I 69
Autoimmune Polyendocrinopathy Type 1 53
Autoimmune Polyglandular Syndrome I 11
Whitaker Syndrome 69
Whitaker Syndrom 11
Aire Deficiency 25
Apeced Syndrome 53
Medac Syndrome 53
Ham Syndrome 53
Aps-1 69
Pga 1 47
Aps 1 47

Characteristics:

Orphanet epidemiological data:

53
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

HPO:

63
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM51 240300
Disease Ontology11 DOID:0050167
Orphanet53 ORPHA3453
ICD10 via Orphanet30 E31.0
MESH via Orphanet39 C538275
UMLS via Orphanet68 C3494489
MeSH38 D016884

Summaries for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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NIH Rare Diseases:47 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 Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to whitaker syndrome and autoimmune polyendocrine syndrome, type ii, and has symptoms including visual impairment, photophobia and hypoparathyroidism. An important gene associated with Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia is AIRE (Autoimmune Regulator), and among its related pathways are Amine-derived hormones and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include skin, ovary and thyroid, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:69 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia: A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism.

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:25 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) 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 own tissues and organs by mistake.

OMIM:51 Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison... (240300) more...

Related Diseases for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Diseases related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1whitaker syndrome11.8
2autoimmune polyendocrine syndrome, type ii10.8
3autoimmune polyendocrine syndrome10.6
4thyroid cancer, childhood10.2GAD1, TPH1
5angelucci's syndrome10.2AIRE, CASR
6glutathionuria10.2GAD2, TPH1
7autosomal recessive congenital methemoglobinemia10.1AIRE, CYP21A2
8t cell deficiency10.1AIRE, CASR
9dyskinetic cerebral palsy10.1GAD1, GAD2
10atrichia with papular lesions10.1AIRE, CYP21A2
11sequeiros sack syndrome10.0GAD1, GAD2
12measles10.0GAD2, TPH1
1346 xx gonadal dysgenesis10.0CYP11A1, CYP17A1
14myd88 deficiency9.9GAD1, GAD2
15dressler's syndrome9.9AIRE, CYP11A1, CYP21A2
16chancroid9.9AIRE, CYP11A1, CYP21A2
17systemic lupus erythematosus9.9
18autoimmune hepatitis9.9
19hepatitis9.9
20hypoparathyroidism9.9
21candidiasis9.9
22chronic mucocutaneous candidiasis9.9
23intestinal disease9.9
24neuronitis9.9
25vasculitis9.9
26lupus erythematosus9.9
27keratopathy9.9
28thymoma9.9
29rheumatoid arthritis9.8
30arthritis9.8
31dilated cardiomyopathy9.8
32alopecia universalis9.8
33alopecia9.8
34vasculogenic impotence9.8CYP11A1, CYP17A1, CYP21A2
35benign shuddering attacks9.8CYP11A1, CYP17A1, CYP21A2
36neurilemmoma of the pleura9.8CYP11A1, CYP17A1, CYP21A2
37dental pulp necrosis9.8CYP11A1, CYP17A1, CYP21A2
38first-degree atrioventricular block9.8CYP11A1, CYP17A1, CYP21A2
39adrenal cortex disease9.8CYP11A1, CYP17A1, CYP21A2
40pulmonary hypertension9.7
41graves' disease9.7
42addison's disease9.7
43acute pancreatitis9.6
44pancreatitis9.6
45parkinson disease, late-onset9.5DDC, GAD1, TPH1
46omenn syndrome9.5
47b-cell lymphomas9.5
48myasthenia gravis9.5
49lymphoma9.5
50dfna2 nonsyndromic hearing loss9.4CYP17A1, CYP1A2, CYP21A2

Graphical network of the top 20 diseases related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:



Diseases related to autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia

Symptoms for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Symptoms by clinical synopsis from OMIM:

240300

Clinical features from OMIM:

240300

Human phenotypes related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:

 63 53 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000505
2 photophobia63 53 hallmark (90%) Very frequent (99-80%) HP:0000613
3 hypoparathyroidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000829
4 abnormality of the fingernails63 53 hallmark (90%) Very frequent (99-80%) HP:0001231
5 hypercortisolism63 53 hallmark (90%) Very frequent (99-80%) HP:0001578
6 autoimmunity63 53 hallmark (90%) Very frequent (99-80%) HP:0002960
7 opacification of the corneal stroma63 53 hallmark (90%) Very frequent (99-80%) HP:0007759
8 primary adrenal insufficiency63 53 hallmark (90%) Very frequent (99-80%) HP:0008207
9 abnormality of calcium-phosphate metabolism63 53 hallmark (90%) Very frequent (99-80%) HP:0100530
10 abnormality of the cerebral vasculature63 53 hallmark (90%) Very frequent (99-80%) HP:0100659
11 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
12 hypopigmented skin patches63 53 occasional (7.5%) Occasional (29-5%) HP:0001053
13 cerebral calcification63 53 occasional (7.5%) Occasional (29-5%) HP:0002514
14 abnormal hair quantity63 occasional (7.5%) HP:0011362
15 female hypogonadism63 HP:0000134
16 vitiligo63 HP:0001045
17 cholelithiasis63 HP:0001081
18 keratoconjunctivitis63 HP:0001096
19 alopecia63 53 Occasional (29-5%) HP:0001596
20 asplenia63 HP:0001746
21 anemia63 HP:0001903
22 diarrhea63 HP:0002014
23 malabsorption63 HP:0002024
24 chronic atrophic gastritis63 HP:0002582
25 chronic mucocutaneous candidiasis63 53 Very frequent (99-80%) HP:0002728
26 hypoaldosteronism63 53 Very frequent (99-80%) HP:0004319
27 hypoplasia of dental enamel63 HP:0006297
28 type i diabetes mellitus63 HP:0100651
29 chronic active hepatitis63 HP:0200120
30 adrenal hyperplasia53 Very frequent (99-80%)

UMLS symptoms related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:


diarrhea

Drugs & Therapeutics for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia

Genetic Tests for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Genetic tests related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Polyglandular Autoimmune Syndrome, Type 126
2 Autoimmune Polyendocrinopathy Syndrome Type 124 AIRE

Anatomical Context for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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MalaCards organs/tissues related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:

35
Skin, Ovary, Thyroid, Eye

Animal Models for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without... or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.5AIRE, CASR, CYP11A1, CYP1A2, GAD1, GAD2
2MP:00053888.1AIRE, CYP1A2, GAD1, GAD2, TPH1
3MP:00107687.7AIRE, CASR, CYP11A1, CYP17A1, CYP1A2, DDC
4MP:00053867.5AIRE, CASR, CYP11A1, CYP17A1, CYP1A2, DDC
5MP:00053767.4AIRE, CASR, CYP11A1, CYP17A1, CYP1A2, DDC

Publications for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Variations for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:

69 (show all 20)
id Symbol AA change Variation ID SNP ID
1AIREp.Leu28ProVAR_005004rs179363878
2AIREp.Lys83GluVAR_005005rs121434255
3AIREp.Arg15LeuVAR_013713rs179363876
4AIREp.Thr16MetVAR_013714rs179363877
5AIREp.Leu29ProVAR_013715rs179363879
6AIREp.Trp78ArgVAR_013716rs179363880
7AIREp.Val80LeuVAR_013717rs179363881
8AIREp.Tyr85CysVAR_013718rs179363882
9AIREp.Tyr90CysVAR_013719rs179363883
10AIREp.Leu93ArgVAR_013720rs179363884
11AIREp.Val301MetVAR_013721rs150634562
12AIREp.Cys311TyrVAR_013723rs386833674
13AIREp.Pro326GlnVAR_013724rs179363885
14AIREp.Gly228TrpVAR_014422rs121434257
15AIREp.Arg15CysVAR_026480rs179363875
16AIREp.Ala21ValVAR_026481rs179363886
17AIREp.Phe77SerVAR_026483rs179363887
18AIREp.Pro252LeuVAR_026484rs34397615
19AIREp.Pro326LeuVAR_026485rs179363888
20AIREp.Pro539LeuVAR_026486rs179363889

Clinvar genetic disease variations for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia:

5 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1AIRENM_000383.3(AIRE): c.463+2T> CSNVLikely pathogenicrs786204478GRCh37Chr 21, 45707018: 45707018
2AIRENM_000383.3(AIRE): c.1249dupC (p.Leu417Profs)duplicationLikely pathogenic, Pathogenicrs786204567GRCh38Chr 21, 44293146: 44293146
3AIRENM_000383.3(AIRE): c.232T> C (p.Trp78Arg)SNVLikely pathogenicrs179363880GRCh38Chr 21, 44286656: 44286656
4AIRENM_000383.3(AIRE): c.769C> T (p.Arg257Ter)SNVPathogenicrs121434254GRCh37Chr 21, 45709656: 45709656
5AIRENM_000383.3(AIRE): c.247A> G (p.Lys83Glu)SNVPathogenicrs121434255GRCh37Chr 21, 45706554: 45706554
6AIRENM_000383.3(AIRE): c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs)deletionLikely pathogenic, Pathogenicrs386833675GRCh37Chr 21, 45711065: 45711077
7AIRENM_000383.3(AIRE): c.415C> T (p.Arg139Ter)SNVPathogenicrs121434256GRCh37Chr 21, 45706968: 45706968
8AIRENM_000383.3(AIRE): c.1103dupC (p.Leu370Alafs)duplicationPathogenicrs387906293GRCh37Chr 21, 45712883: 45712883
9AIRENM_000383.3(AIRE): c.1513delG (p.Ala505Profs)deletionPathogenicrs387906294GRCh37Chr 21, 45716275: 45716275
10AIRENM_000383.3(AIRE): c.1A> T (p.Met1Leu)SNVPathogenicrs121434258GRCh37Chr 21, 45705890: 45705890
11AIREAIRE, 4-BP DUP, 205CAGGduplicationPathogenicChr na, -1: -1
12AIRENM_000383.3(AIRE): c.239T> G (p.Val80Gly)SNVPathogenicrs267606642GRCh37Chr 21, 45706546: 45706546
13AIRENM_000383.3(AIRE): c.1322C> T (p.Thr441Met)SNVLikely pathogenicrs72650677GRCh37Chr 21, 45713715: 45713715
14AIRENM_000383.3(AIRE): c.342G> T (p.Lys114Asn)SNVLikely pathogenicrs142788946GRCh37Chr 21, 45706895: 45706895
15AIRENM_000383.3(AIRE): c.371C> T (p.Pro124Leu)SNVLikely pathogenicrs193922417GRCh37Chr 21, 45706924: 45706924
16AIRENM_000383.3(AIRE): c.463G> A (p.Gly155Ser)SNVLikely pathogenicrs193922418GRCh37Chr 21, 45707016: 45707016
17AIRENM_000383.3: c.255C> ASNVLikely pathogenicChr na, -1: -1
18AIRENM_000383.3: c.157G> TSNVLikely pathogenicChr na, -1: -1
19AIRENM_000383.3: c.457_458delAGinsCindelLikely pathogenicChr na, -1: -1
20AIRENM_000383.3: c.1116_1117delGGdeletionLikely pathogenicChr na, -1: -1
21AIRENM_000383.3: c.233G> ASNVLikely pathogenicChr na, -1: -1
22AIRENM_000383.3: c.652+1G> TSNVLikely pathogenicChr na, -1: -1
23AIRENM_000383.3: c.1566+2dupTduplicationLikely pathogenicChr na, -1: -1
24AIRENM_000383.3: c.1278+1delGdeletionLikely pathogenicChr na, -1: -1
25AIRENM_000383.3: c.1566+2T> ASNVLikely pathogenicChr na, -1: -1
26AIRENM_000383.3: c.977delCdeletionLikely pathogenicChr na, -1: -1
27AIRENM_000383.3: c.1480_1483delCGCCdeletionLikely pathogenicChr na, -1: -1
28AIRENM_000383.3: c.517C> TSNVLikely pathogenicChr na, -1: -1
29AIRENM_000383.3: c.1084delGdeletionLikely pathogenicChr na, -1: -1
30AIRENM_000383.3: c.809_810delAGdeletionLikely pathogenicChr na, -1: -1
31AIRENM_000383.3: c.260delTdeletionLikely pathogenicChr na, -1: -1
32AIRENM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs)insertionLikely pathogenic, Pathogenicrs386833672GRCh37Chr 21, 45712943: 45712944
33AIRENM_000383.3(AIRE): c.1638A> T (p.Ter546Cys)SNVLikely pathogenicrs386833673GRCh37Chr 21, 45717610: 45717610
34AIRENM_000383.3(AIRE): c.932G> A (p.Cys311Tyr)SNVLikely pathogenicrs386833674GRCh37Chr 21, 45711030: 45711030
35AIRENM_000383.3(AIRE): c.1616C> T (p.Pro539Leu)SNVLikely pathogenic, Pathogenicrs179363889GRCh37Chr 21, 45717588: 45717588
36AIRENM_000383.3(AIRE): c.254A> G (p.Tyr85Cys)SNVPathogenicrs179363882GRCh37Chr 21, 45706561: 45706561
37AIRENM_000383.3(AIRE): c.62C> T (p.Ala21Val)SNVLikely pathogenicrs179363886GRCh37Chr 21, 45705951: 45705951

Expression for genes affiliated with Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Search GEO for disease gene expression data for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia.

Pathways for genes affiliated with Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Pathways related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9DDC, TPH1
29.9DDC, TPH1
39.7CYP11A1, CYP17A1
4
Show member pathways
9.5GAD1, GAD2
59.5GAD1, GAD2
69.5GAD1, GAD2
7
Show member pathways
9.5GAD1, GAD2
89.5GAD1, GAD2
9
Show member pathways
9.5GAD1, GAD2
10
Show member pathways
9.1CYP11A1, CYP17A1, CYP21A2
11
Show member pathways
8.9DDC, GAD1, GAD2, TPH1
128.9DDC, GAD1, GAD2, TPH1
138.8CYP11A1, CYP1A2, GAD2
14
Show member pathways
8.3CYP11A1, CYP17A1, CYP1A2, CYP21A2
15
Show member pathways
6.7CYP11A1, CYP17A1, CYP1A2, CYP21A2, DDC, GAD1

GO Terms for genes affiliated with Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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Cellular components related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:00612029.6GAD1, GAD2
2axonGO:00304249.2CYP17A1, DDC, GAD2

Biological processes related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1indolalkylamine biosynthetic processGO:004621910.3DDC, TPH1
2serotonin biosynthetic processGO:004242710.3DDC, TPH1
3glutamate decarboxylation to succinateGO:000654010.2GAD1, GAD2
4neurotransmitter biosynthetic processGO:004213610.0GAD1, GAD2
5steroid biosynthetic processGO:00066949.8CYP17A1, CYP21A2
6steroid metabolic processGO:00082029.8CYP17A1, CYP21A2
7response to immobilization stressGO:00359029.8CYP1A2, TPH1
8neurotransmitter secretionGO:00072699.8GAD1, GAD2
9dibenzo-p-dioxin metabolic processGO:00188949.7CYP17A1, CYP1A2
10glucocorticoid biosynthetic processGO:00067049.6CYP11A1, CYP17A1, CYP21A2
11sterol metabolic processGO:00161259.5CYP11A1, CYP17A1, CYP21A2
12response to drugGO:00424938.3CYP17A1, CYP1A2, GAD1, GAD2
13oxidation-reduction processGO:00551148.1CYP11A1, CYP17A1, CYP1A2, CYP21A2, TPH1

Molecular functions related to Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glutamate decarboxylase activityGO:000435110.1GAD1, GAD2
2glutamate bindingGO:001659510.1GAD1, GAD2
3amino acid bindingGO:00165979.9DDC, TPH1
4pyridoxal phosphate bindingGO:00301709.5DDC, GAD1, GAD2
5oxygen bindingGO:00198259.3CYP17A1, CYP1A2
6heme bindingGO:00200378.0CYP11A1, CYP17A1, CYP1A2, CYP21A2
7iron ion bindingGO:00055067.9CYP11A1, CYP17A1, CYP1A2, CYP21A2, TPH1

Sources for Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet