MCID: ATM096
MIFTS: 58

Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia

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

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

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia:

Name: Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 57
Polyglandular Autoimmune Syndrome, Type 1 25 29 6 40
Apeced 57 25 75 55
Aps1 57 25 59 75
Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 57 29 13
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 57 25 75
Pga I 57 25 75
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 57 75
Polyglandular Type I Autoimmune Syndrome 25 73
Aps Type 1 25 59
Autoimmune Polyendocrine Syndrome 1, with or Without Reversible Metaphyseal Dysplasia 75
Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome 59
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 25
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome 59
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy; Apeced 57
Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome 59
Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome 59
Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I 75
Polyglandular Deficiency Syndrome Persian-Jewish Type 75
Autoimmune Polyendocrinopathy Syndrome Type 1 25
Autoimmune Polyendocrinopathy Syndrome Type I 75
Autoimmune Polyglandular Syndrome, Type I 57
Polyglandular Autoimmune Syndrome, Type I 57
Autoimmune Polyglandular Syndrome, Type 1 25
Autoimmune Polyendocrine Syndrome Type 1 59
Autoimmune Polyglandular Syndrome Type 1 59
Autoimmune Polyendocrine Syndrome Type I 75
Polyglandular Autoimmune Syndrome Type I 75
Autoimmune Polyendocrinopathy Type 1 59
Whitaker Syndrome 75
Aire Deficiency 25
Apeced Syndrome 59
Medac Syndrome 59
Ham Syndrome 59
Aps I 57
Aps-1 75

Characteristics:

Orphanet epidemiological data:

59
autoimmune polyendocrinopathy type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Finland),1-9/1000000 (France); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in childhood
manifestations continue to appear until 5th decade
candidiasis is usually the first symptom
autosomal dominant inheritance has been reported in a single family
prevalence in finland is 1 in 25,000
prevalence in sardinia is 1 in 14,000
prevalence in norway is 1 in 80,000
prevalence in slovenia is 1 in 43,000
prevalence in poland is 1 in 129,000


HPO:

32
autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia, also known as polyglandular autoimmune syndrome, type 1, is related to autoimmune polyendocrine syndrome, type ii and autoimmune polyendocrine syndrome type 1, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Metabolism and Neuroscience. The drugs Isoflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include skin and pituitary, and related phenotypes are cerebral calcification and cataract

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 : 57 Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981). (240300)

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

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 31.4 AIRE GAD1 GAD2
2 autoimmune polyendocrine syndrome type 1 28.2 AIRE CASR CYP21A2 DDC TH TPH1
3 autoimmune polyendocrine syndrome 27.5 AIRE CASR CYP11A1 DDC GAD1 GAD2
4 autoimmune addison disease 10.7 AIRE CYP21A2
5 acute adrenal insufficiency 10.6 CYP11A1 CYP21A2
6 hypoparathyroidism, familial isolated 10.5 AIRE CASR
7 transsexualism 10.5 CYP17A1 CYP21A2
8 adrenal cortical hypofunction 10.4 AIRE CYP11A1 CYP21A2
9 supratentorial primitive neuroectodermal tumor 10.4 DDC TH
10 sex differentiation disease 10.4 CYP17A1 CYP21A2
11 antley-bixler syndrome 10.3 CYP17A1 CYP21A2
12 holoprosencephaly 1 10.3 AIRE TRAPPC10
13 testicular leydig cell tumor 10.3 CYP11A1 CYP17A1 CYP21A2
14 steroid inherited metabolic disorder 10.2 CYP11A1 CYP17A1 CYP21A2
15 leydig cell tumor 10.2 CYP11A1 CYP17A1 CYP21A2
16 parathyroid gland disease 10.2 AIRE CASR
17 adrenal cortical adenoma 10.2 CYP11A1 CYP17A1 CYP21A2
18 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.2 CYP11A1 CYP17A1 CYP21A2
19 adrenal adenoma 10.2 CYP11A1 CYP17A1 CYP21A2
20 adrenal carcinoma 10.2 CYP11A1 CYP17A1 CYP21A2
21 lipoid congenital adrenal hyperplasia 10.2 CYP11A1 CYP17A1 CYP21A2
22 adrenocortical carcinoma, hereditary 10.2 CYP11A1 CYP17A1 CYP21A2
23 pure autonomic failure 10.2 DDC TH
24 polycystic ovary syndrome 10.1 CYP11A1 CYP17A1 CYP21A2
25 conn's syndrome 10.1 CYP11A1 CYP17A1 CYP21A2
26 spastic cerebral palsy 10.1 GAD1 GAD2
27 hypoadrenocorticism, familial 10.1 AIRE CYP11A1 CYP21A2 DDC
28 diabetes mellitus, ketosis-prone 10.1 GAD1 GAD2
29 limbic encephalitis 10.0 GAD1 GAD2
30 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0 AIRE GAD1 GAD2
31 autoimmune hepatitis 9.9
32 diabetes mellitus 9.9
33 hepatitis 9.9
34 kleine-levin hibernation syndrome 9.8 GAD2 TPH1
35 type i 9.8
36 stiff-person syndrome 9.8 GAD1 GAD2 TH
37 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.7
38 graves' disease 9.7
39 neuropathy 9.7
40 cytochrome p450 oxidoreductase deficiency 9.7 CYP17A1 CYP1A2 CYP21A2
41 myasthenia gravis 9.6
42 candidiasis 9.6
43 squamous cell carcinoma 9.6
44 myasthenia gravis congenital 9.6
45 parkinson disease, late-onset 9.6 DDC GAD1 TH TPH1
46 omenn syndrome 9.5
47 rasmussen encephalitis 9.4 CCK GAD1
48 schizophrenia 7.6 CCK CYP1A2 GAD1 GAD2 TH TPH1

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



Diseases related to Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome, Type I, with or Without...

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
malabsorption
diarrhea
chronic atrophic gastritis

Skin Nails Hair Hair:
alopecia

Endocrine Features:
hypoparathyroidism
hypogonadism
insulin-dependent diabetes mellitus
adrenal insufficiency (addison disease)
hypoaldosteronism, transient, isolated
more
Genitourinary Internal Genitalia Female:
hypogonadism

Head And Neck Eyes:
pigmentary retinopathy
keratoconjunctivitis
decreased visual acuity
keratopathy
waxy optic nerve pallor
more
Abdomen Liver:
chronic active hepatitis

Head And Neck Teeth:
dental enamel hypoplasia

Skin Nails Hair Skin:
vitiligo
ectodermal dystrophy

Abdomen Biliary Tract:
cholelithiasis

Genitourinary External Genitalia Male:
hypogonadism

AbdomenSpleen:
asplenia

Immunology:
chronic mucocutaneous candidiasis

Hematology:
pernicious anemia

Laboratory Abnormalities:
multiple autoantibodies
antiretinal antibodies


Clinical features from OMIM:

240300

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

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
2 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
3 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
4 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
5 opacification of the corneal stroma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007759
6 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
7 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
8 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
9 hypoparathyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000829
10 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
11 abnormality of the cerebral vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0100659
12 abnormality of calcium-phosphate metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100530
13 adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008221
14 chronic mucocutaneous candidiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002728
15 diabetes mellitus 32 HP:0000819
16 malabsorption 32 HP:0002024
17 type i diabetes mellitus 32 HP:0100651
18 anemia 32 HP:0001903
19 vitiligo 32 HP:0001045
20 reduced visual acuity 32 HP:0007663
21 cholelithiasis 32 HP:0001081
22 primary adrenal insufficiency 59 Very frequent (99-80%)
23 diarrhea 32 HP:0002014
24 hypercortisolism 59 Very frequent (99-80%)
25 chronic atrophic gastritis 32 HP:0002582
26 asplenia 32 HP:0001746
27 decreased circulating aldosterone level 32 hallmark (90%) HP:0004319
28 female hypogonadism 32 HP:0000134
29 increased circulating cortisol level 32 hallmark (90%) HP:0003118
30 hypoaldosteronism 59 Very frequent (99-80%)
31 pigmentary retinopathy 32 HP:0000580
32 hypoplasia of dental enamel 32 HP:0006297
33 keratoconjunctivitis 32 HP:0001096
34 chronic active hepatitis 32 HP:0200120
35 constriction of peripheral visual field 32 HP:0001133

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


diarrhea

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 AIRE CASR CCK CYP11A1 CYP17A1 CYP1A2
2 homeostasis/metabolism MP:0005376 10.11 AIRE CASR CCK CYP11A1 CYP17A1 CYP1A2
3 growth/size/body region MP:0005378 10.1 AIRE CASR CYP11A1 CYP17A1 DDC GAD1
4 endocrine/exocrine gland MP:0005379 10.09 CYP1A2 GAD1 GAD2 TH TRAPPC10 AIRE
5 mortality/aging MP:0010768 9.97 CASR CYP11A1 CYP17A1 CYP1A2 DDC GAD1
6 nervous system MP:0003631 9.86 DDC GAD1 GAD2 TH TRAPPC10 AIRE
7 no phenotypic analysis MP:0003012 9.63 CYP1A2 GAD1 GAD2 TH AIRE CCK
8 respiratory system MP:0005388 9.43 AIRE CYP1A2 GAD1 GAD2 TH TPH1
9 vision/eye MP:0005391 9.1 AIRE CASR CYP11A1 DDC TH TRAPPC10

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

Drugs for Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
4 Anesthetics Phase 4
5 Anesthetics, General Phase 4
6 Anesthetics, Inhalation Phase 4
7 Anesthetics, Intravenous Phase 4
8 Central Nervous System Depressants Phase 4
9 Fat Emulsions, Intravenous Phase 4
10 Hypnotics and Sedatives Phase 4
11 Parenteral Nutrition Solutions Phase 4
12 Pharmaceutical Solutions Phase 4,Phase 2
13 Soybean oil, phospholipid emulsion Phase 4
14 Soy Bean Nutraceutical Phase 4
15
Tocopherol Approved, Investigational, Nutraceutical Phase 2, Phase 3 1406-66-2 14986
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3 59-02-9 14985
17 Tocopherols Phase 2, Phase 3
18 Tocotrienols Phase 2, Phase 3
19 Vitamins Phase 2, Phase 3
20 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
21 Tocotrienol Investigational, Nutraceutical Phase 2, Phase 3 6829-55-6
22
Amphotericin B Approved, Investigational Phase 2 1397-89-3 14956 5280965
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
25 Anti-Bacterial Agents Phase 2
26 Antifungal Agents Phase 2
27 Anti-Infective Agents Phase 2
28 Antiparasitic Agents Phase 2
29 Antiprotozoal Agents Phase 2
30 Autoantibodies Phase 2
31 Liposomal amphotericin B Phase 2
32 Analgesics Phase 2
33 Analgesics, Non-Narcotic Phase 2
34 Cannabinoid Receptor Agonists Phase 2
35 Hallucinogens Phase 2
36 Hormone Antagonists Phase 2
37 Hormones Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
39 Neurotransmitter Agents Phase 2
40 Peripheral Nervous System Agents Phase 2
41 Psychotropic Drugs Phase 2
42 Olive Nutraceutical Phase 2
43
Silicon Approved, Investigational Not Applicable 7440-21-3 4082203
44 Sulfalene Not Applicable
45 Acidophilus Nutraceutical Not Applicable
46 Bifidobacterium Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Propofol and Perioperative Inflammation Completed NCT01115179 Phase 4 propofol;Intralipid 10%;Saline
2 Apremilast in the Treatment of Central Centrifugal Cicatricial Alopecia (CCCA) Recruiting NCT03521687 Phase 4 Apremilast
3 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
4 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
5 Cannabinoids for Behavioral Problems in Children With ASD Active, not recruiting NCT02956226 Phase 2 Cannabinoids - 99% pure cannabinoids mix;Placebo;Cannabinoids - whole plant extract
6 Does "Kinesio-taping" Affect Balance in Healthy Individuals? Completed NCT03219905 Not Applicable
7 Natural History of Individuals With Immune System Problems That Lead to Fungal Infections Recruiting NCT01386437
8 Efficacy of Vivomixx on Behaviour and Gut Function in Autism Spectrum Disorder Recruiting NCT03369431 Not Applicable
9 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741

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

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

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

# Genetic test Affiliating Genes
1 Polyglandular Autoimmune Syndrome, Type 1 29 AIRE
2 Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 29

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

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

41
Skin, Pituitary

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

Articles related to Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia:

# Title Authors Year
1
Polyglandular autoimmune syndrome type 1 without chronic mucocutaneous candidiasis in a 16 year-old male. ( 12585347 )
2003

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

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

75 (show all 20)
# Symbol AA change Variation ID SNP ID
1 AIRE p.Leu28Pro VAR_005004 rs179363878
2 AIRE p.Lys83Glu VAR_005005 rs121434255
3 AIRE p.Arg15Leu VAR_013713 rs179363876
4 AIRE p.Thr16Met VAR_013714 rs179363877
5 AIRE p.Leu29Pro VAR_013715 rs179363879
6 AIRE p.Trp78Arg VAR_013716 rs179363880
7 AIRE p.Val80Leu VAR_013717 rs179363881
8 AIRE p.Tyr85Cys VAR_013718 rs179363882
9 AIRE p.Tyr90Cys VAR_013719 rs179363883
10 AIRE p.Leu93Arg VAR_013720 rs179363884
11 AIRE p.Val301Met VAR_013721 rs150634562
12 AIRE p.Cys311Tyr VAR_013723 rs386833674
13 AIRE p.Pro326Gln VAR_013724 rs179363885
14 AIRE p.Gly228Trp VAR_014422 rs121434257
15 AIRE p.Arg15Cys VAR_026480 rs179363875
16 AIRE p.Ala21Val VAR_026481 rs179363886
17 AIRE p.Phe77Ser VAR_026483 rs179363887
18 AIRE p.Pro252Leu VAR_026484 rs34397615
19 AIRE p.Pro326Leu VAR_026485 rs179363885
20 AIRE p.Pro539Leu VAR_026486 rs179363889

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

6
(show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 AIRE NM_000383.3(AIRE): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121434254 GRCh37 Chromosome 21, 45709656: 45709656
2 AIRE NM_000383.3(AIRE): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121434254 GRCh38 Chromosome 21, 44289773: 44289773
3 AIRE NM_000383.3(AIRE): c.247A> G (p.Lys83Glu) single nucleotide variant Pathogenic rs121434255 GRCh37 Chromosome 21, 45706554: 45706554
4 AIRE NM_000383.3(AIRE): c.247A> G (p.Lys83Glu) single nucleotide variant Pathogenic rs121434255 GRCh38 Chromosome 21, 44286671: 44286671
5 AIRE NM_000383.3(AIRE): c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) deletion Pathogenic rs386833675 GRCh37 Chromosome 21, 45711065: 45711077
6 AIRE NM_000383.3(AIRE): c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) deletion Pathogenic rs386833675 GRCh38 Chromosome 21, 44291182: 44291194
7 AIRE NM_000383.3(AIRE): c.415C> T (p.Arg139Ter) single nucleotide variant Pathogenic rs121434256 GRCh37 Chromosome 21, 45706968: 45706968
8 AIRE NM_000383.3(AIRE): c.415C> T (p.Arg139Ter) single nucleotide variant Pathogenic rs121434256 GRCh38 Chromosome 21, 44287085: 44287085
9 AIRE NM_000383.3(AIRE): c.1103_1104insC (p.Leu370Alafs) insertion Pathogenic rs387906293 GRCh37 Chromosome 21, 45712883: 45712883
10 AIRE NM_000383.3(AIRE): c.1103_1104insC (p.Leu370Alafs) insertion Pathogenic rs387906293 GRCh38 Chromosome 21, 44293000: 44293000
11 AIRE NM_000383.3(AIRE): c.1513delG (p.Ala505Profs) deletion Pathogenic rs387906294 GRCh37 Chromosome 21, 45716275: 45716275
12 AIRE NM_000383.3(AIRE): c.1513delG (p.Ala505Profs) deletion Pathogenic rs387906294 GRCh38 Chromosome 21, 44296392: 44296392
13 AIRE NM_000383.3(AIRE): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121434258 GRCh37 Chromosome 21, 45705890: 45705890
14 AIRE NM_000383.3(AIRE): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121434258 GRCh38 Chromosome 21, 44286007: 44286007
15 AIRE AIRE, 4-BP DUP, 205CAGG duplication Pathogenic
16 AIRE NM_000383.3(AIRE): c.239T> G (p.Val80Gly) single nucleotide variant Pathogenic rs267606642 GRCh37 Chromosome 21, 45706546: 45706546
17 AIRE NM_000383.3(AIRE): c.239T> G (p.Val80Gly) single nucleotide variant Pathogenic rs267606642 GRCh38 Chromosome 21, 44286663: 44286663
18 AIRE NM_000383.3(AIRE): c.342G> T (p.Lys114Asn) single nucleotide variant Likely pathogenic rs142788946 GRCh37 Chromosome 21, 45706895: 45706895
19 AIRE NM_000383.3(AIRE): c.342G> T (p.Lys114Asn) single nucleotide variant Likely pathogenic rs142788946 GRCh38 Chromosome 21, 44287012: 44287012
20 AIRE NM_000383.3(AIRE): c.371C> T (p.Pro124Leu) single nucleotide variant Likely pathogenic rs193922417 GRCh37 Chromosome 21, 45706924: 45706924
21 AIRE NM_000383.3(AIRE): c.371C> T (p.Pro124Leu) single nucleotide variant Likely pathogenic rs193922417 GRCh38 Chromosome 21, 44287041: 44287041
22 AIRE NM_000383.3(AIRE): c.463G> A (p.Gly155Ser) single nucleotide variant Likely pathogenic rs193922418 GRCh37 Chromosome 21, 45707016: 45707016
23 AIRE NM_000383.3(AIRE): c.463G> A (p.Gly155Ser) single nucleotide variant Likely pathogenic rs193922418 GRCh38 Chromosome 21, 44287133: 44287133
24 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic rs386833672 GRCh37 Chromosome 21, 45712943: 45712944
25 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic rs386833672 GRCh38 Chromosome 21, 44293060: 44293061
26 AIRE NM_000383.3(AIRE): c.1638A> T (p.Ter546Cys) single nucleotide variant Likely pathogenic rs386833673 GRCh37 Chromosome 21, 45717610: 45717610
27 AIRE NM_000383.3(AIRE): c.1638A> T (p.Ter546Cys) single nucleotide variant Likely pathogenic rs386833673 GRCh38 Chromosome 21, 44297727: 44297727
28 AIRE NM_000383.3(AIRE): c.932G> A (p.Cys311Tyr) single nucleotide variant Likely pathogenic rs386833674 GRCh37 Chromosome 21, 45711030: 45711030
29 AIRE NM_000383.3(AIRE): c.932G> A (p.Cys311Tyr) single nucleotide variant Likely pathogenic rs386833674 GRCh38 Chromosome 21, 44291147: 44291147
30 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh37 Chromosome 21, 45717588: 45717588
31 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh38 Chromosome 21, 44297705: 44297705
32 AIRE NM_000383.3(AIRE): c.254A> G (p.Tyr85Cys) single nucleotide variant Pathogenic rs179363882 GRCh37 Chromosome 21, 45706561: 45706561
33 AIRE NM_000383.3(AIRE): c.254A> G (p.Tyr85Cys) single nucleotide variant Pathogenic rs179363882 GRCh38 Chromosome 21, 44286678: 44286678
34 AIRE NM_000383.3(AIRE): c.62C> T (p.Ala21Val) single nucleotide variant Likely pathogenic rs179363886 GRCh37 Chromosome 21, 45705951: 45705951
35 AIRE NM_000383.3(AIRE): c.62C> T (p.Ala21Val) single nucleotide variant Likely pathogenic rs179363886 GRCh38 Chromosome 21, 44286068: 44286068
36 AIRE NM_000383.3(AIRE): c.232T> C (p.Trp78Arg) single nucleotide variant Pathogenic/Likely pathogenic rs179363880 GRCh38 Chromosome 21, 44286656: 44286656
37 AIRE NM_000383.3(AIRE): c.232T> C (p.Trp78Arg) single nucleotide variant Pathogenic/Likely pathogenic rs179363880 GRCh37 Chromosome 21, 45706539: 45706539
38 AIRE NM_000383.3(AIRE): c.463+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786204478 GRCh37 Chromosome 21, 45707018: 45707018
39 AIRE NM_000383.3(AIRE): c.463+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786204478 GRCh38 Chromosome 21, 44287135: 44287135
40 AIRE NM_000383.3(AIRE): c.1249dupC (p.Leu417Profs) duplication Pathogenic/Likely pathogenic rs786204567 GRCh38 Chromosome 21, 44293146: 44293146
41 AIRE NM_000383.3(AIRE): c.1249dupC (p.Leu417Profs) duplication Pathogenic/Likely pathogenic rs786204567 GRCh37 Chromosome 21, 45713029: 45713029
42 AIRE NM_000383.3(AIRE): c.497C> T (p.Pro166Leu) single nucleotide variant Benign/Likely benign rs11910214 GRCh37 Chromosome 21, 45707433: 45707433
43 AIRE NM_000383.3(AIRE): c.497C> T (p.Pro166Leu) single nucleotide variant Benign/Likely benign rs11910214 GRCh38 Chromosome 21, 44287550: 44287550
44 AIRE NM_000383.3(AIRE): c.1476C> T (p.Pro492=) single nucleotide variant Benign rs72650679 GRCh37 Chromosome 21, 45714359: 45714359
45 AIRE NM_000383.3(AIRE): c.1476C> T (p.Pro492=) single nucleotide variant Benign rs72650679 GRCh38 Chromosome 21, 44294476: 44294476
46 AIRE NM_000383.3(AIRE): c.1265delC (p.Pro422Leufs) deletion Pathogenic rs886039556 GRCh37 Chromosome 21, 45713045: 45713045
47 AIRE NM_000383.3(AIRE): c.1265delC (p.Pro422Leufs) deletion Pathogenic rs886039556 GRCh38 Chromosome 21, 44293162: 44293162
48 AIRE NM_000383.3(AIRE): c.205_208dupCAGG (p.Asp70Alafs) duplication Pathogenic rs886041124 GRCh37 Chromosome 21, 45706515: 45706515
49 AIRE NM_000383.3(AIRE): c.205_208dupCAGG (p.Asp70Alafs) duplication Pathogenic rs886041124 GRCh38 Chromosome 21, 44286629: 44286632
50 AIRE NM_000383.3(AIRE): c.157G> T (p.Glu53Ter) single nucleotide variant Likely pathogenic rs1057516272 GRCh37 Chromosome 21, 45706464: 45706464

Expression for Autoimmune Polyendocrine Syndrome, Type I, with or Without...

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

Pathways for Autoimmune Polyendocrine Syndrome, Type I, with or Without...

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 CYP11A1 CYP17A1 CYP1A2 CYP21A2 DDC GAD1
2 12.19 DDC GAD1 GAD2 TH TPH1
4 12.04 CYP11A1 CYP17A1 CYP1A2 GAD1 GAD2
5
Show member pathways
11.99 CYP1A2 DDC TPH1
6 11.96 DDC TH TPH1
7 11.57 DDC TH TPH1
8
Show member pathways
11.52 CYP11A1 CYP17A1 CYP21A2
9 11.44 GAD1 GAD2 TH
10
Show member pathways
11.2 GAD1 GAD2
11 11.16 GAD1 GAD2
12
Show member pathways
11.14 GAD1 GAD2
13
Show member pathways
11.1 DDC TH TPH1
14 11.08 DDC TH
15
Show member pathways
11.07 CYP11A1 CYP17A1 CYP1A2 CYP21A2
16
Show member pathways
11.05 TH TPH1
17 11.03 DDC TPH1
18
Show member pathways
10.88 CYP17A1 CYP21A2
19
Show member pathways
10.79 GAD1 GAD2
20 10.75 GAD1 GAD2
21 10.66 DDC TH
22
Show member pathways
10.61 GAD1 GAD2
23 10.56 DDC TH
24 10.5 GAD1 GAD2
25
Show member pathways
10.36 DDC GAD1 GAD2 TH TPH1

GO Terms for Autoimmune Polyendocrine Syndrome, Type I, with or Without...

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.35 CASR CCK CYP17A1 DDC TH
2 inhibitory synapse GO:0060077 9.26 GAD1 GAD2
3 axon GO:0030424 9.17 CASR CCK CYP17A1 DDC GAD1 GAD2
4 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD1 GAD2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 CYP11A1 CYP17A1 CYP1A2 CYP21A2 TH TPH1
2 response to drug GO:0042493 9.89 CYP1A2 GAD1 GAD2 TH
3 response to organic cyclic compound GO:0014070 9.78 CASR CYP1A2 TH
4 steroid biosynthetic process GO:0006694 9.72 CYP11A1 CYP17A1 CYP21A2
5 steroid metabolic process GO:0008202 9.67 CYP11A1 CYP17A1 CYP1A2 CYP21A2
6 eating behavior GO:0042755 9.62 CCK TH
7 response to metal ion GO:0010038 9.61 CASR TH
8 multicellular organism aging GO:0010259 9.6 DDC TH
9 cellular response to alkaloid GO:0071312 9.58 DDC TH
10 dopamine biosynthetic process GO:0042416 9.58 DDC TH
11 aromatic amino acid family metabolic process GO:0009072 9.57 TH TPH1
12 catecholamine biosynthetic process GO:0042423 9.56 DDC TH
13 indolalkylamine biosynthetic process GO:0046219 9.54 DDC TPH1
14 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.52 DDC TH
15 response to pyrethroid GO:0046684 9.51 DDC TH
16 sterol metabolic process GO:0016125 9.5 CYP11A1 CYP17A1 CYP21A2
17 isoquinoline alkaloid metabolic process GO:0033076 9.49 DDC TH
18 serotonin biosynthetic process GO:0042427 9.48 DDC TPH1
19 glutamate decarboxylation to succinate GO:0006540 9.46 GAD1 GAD2
20 response to immobilization stress GO:0035902 9.43 CYP1A2 TH TPH1
21 phytoalexin metabolic process GO:0052314 9.4 DDC TH
22 carboxylic acid metabolic process GO:0019752 9.33 DDC GAD1 GAD2
23 neurotransmitter biosynthetic process GO:0042136 9.13 GAD1 GAD2 TH
24 glucocorticoid biosynthetic process GO:0006704 8.8 CYP11A1 CYP17A1 CYP21A2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 CYP11A1 CYP17A1 CYP1A2 CYP21A2 TH TPH1
2 lyase activity GO:0016829 9.71 CYP17A1 DDC GAD1 GAD2
3 pyridoxal phosphate binding GO:0030170 9.67 DDC GAD1 GAD2
4 heme binding GO:0020037 9.67 CYP11A1 CYP17A1 CYP1A2 CYP21A2
5 oxygen binding GO:0019825 9.63 CYP17A1 CYP1A2 TH
6 glutamate binding GO:0016595 9.51 GAD1 GAD2
7 carboxy-lyase activity GO:0016831 9.5 DDC GAD1 GAD2
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 9.48 TH TPH1
9 glutamate decarboxylase activity GO:0004351 9.43 GAD1 GAD2
10 amino acid binding GO:0016597 9.33 CASR DDC TH
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP11A1 CYP17A1 CYP1A2 CYP21A2
12 iron ion binding GO:0005506 9.1 CYP11A1 CYP17A1 CYP1A2 CYP21A2 TH TPH1
13 metal ion binding GO:0046872 10.13 AIRE CASR CYP11A1 CYP17A1 CYP1A2 CYP21A2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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