APS1
MCID: ATM096
MIFTS: 65

Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia (APS1)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive 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 58
Polyglandular Autoimmune Syndrome, Type 1 26 30 6 41
Apeced 58 26 76 56
Aps1 58 26 60 76
Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 58 30 13
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 58 26 76
Pga I 58 26 76
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 58 76
Polyglandular Type I Autoimmune Syndrome 26 74
Aps Type 1 26 60
Autoimmune Polyendocrine Syndrome 1, with or Without Reversible Metaphyseal Dysplasia 76
Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome 60
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 26
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome 60
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy; Apeced 58
Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome 60
Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome 60
Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I 76
Polyglandular Deficiency Syndrome Persian-Jewish Type 76
Autoimmune Polyendocrinopathy Syndrome Type 1 26
Autoimmune Polyendocrinopathy Syndrome Type I 76
Autoimmune Polyglandular Syndrome, Type I 58
Polyglandular Autoimmune Syndrome, Type I 58
Autoimmune Polyglandular Syndrome, Type 1 26
Autoimmune Polyendocrine Syndrome Type 1 60
Autoimmune Polyglandular Syndrome Type 1 60
Autoimmune Polyendocrine Syndrome Type I 76
Polyglandular Autoimmune Syndrome Type I 76
Autoimmune Polyendocrinopathy Type 1 60
Whitaker Syndrome 76
Aire Deficiency 26
Apeced Syndrome 60
Medac Syndrome 60
Ham Syndrome 60
Aps I 58
Aps-1 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 diabetes mellitus, insulin-dependent, 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 Thiopental and Isoflurane have been mentioned in the context of this disorder. Affiliated tissues include thyroid, skin and liver, and related phenotypes are visual impairment and photophobia

Genetics Home Reference : 26 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 : 58 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 top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 31.9 GAD1 GAD2
2 diabetes mellitus, insulin-dependent 30.0 AIRE GAD1 GAD2
3 autoimmune hepatitis 29.9 AIRE CYP1A2 DDC
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 AIRE GAD1 GAD2
5 limbic encephalitis 29.8 GAD1 GAD2
6 autoimmune polyendocrine syndrome type 1 29.3 AIRE CASR CYP21A2 DDC TH TPH1
7 autoimmune polyendocrine syndrome 28.6 AIRE CASR CYP11A1 DDC GAD1 GAD2
8 autoimmune oophoritis 11.4
9 autoimmune disease 10.6
10 hypoparathyroidism 10.6
11 chronic mucocutaneous candidiasis 10.6
12 panniculitis 10.5
13 lung disease 10.5
14 cataract 10.4
15 keratopathy 10.4
16 leukemia 10.4
17 muscle disorders 10.4
18 pure red-cell aplasia 10.4
19 oral candidiasis 10.4
20 urticaria 10.4
21 long qt syndrome 10.4
22 myopathy 10.4
23 thyroiditis 10.4
24 herpes simplex 10.4
25 large granular lymphocyte leukemia 10.4
26 lymphomatous thyroiditis 10.4
27 autoimmune hypoparathyroidism 10.4
28 autoimmune addison disease 10.3 AIRE CYP21A2
29 acute adrenal insufficiency 10.3 CYP11A1 CYP21A2
30 hypoparathyroidism, familial isolated 10.3 AIRE CASR
31 transsexualism 10.2 CYP17A1 CYP21A2
32 turner syndrome 10.2
33 psoriasis 10.2
34 adrenal cortical hypofunction 10.2 AIRE CYP11A1 CYP21A2
35 supratentorial primitive neuroectodermal tumor 10.2 DDC TH
36 alopecia 10.2
37 antley-bixler syndrome 10.2 CYP17A1 CYP21A2
38 testicular leydig cell tumor 10.1 CYP11A1 CYP17A1 CYP21A2
39 leydig cell tumor 10.1 CYP11A1 CYP17A1 CYP21A2
40 holoprosencephaly 1 10.1 AIRE TRAPPC10
41 steroid inherited metabolic disorder 10.1 CYP11A1 CYP17A1 CYP21A2
42 thymoma, familial 10.1
43 thymoma 10.1
44 adrenal cortical adenoma 10.1 CYP11A1 CYP17A1 CYP21A2
45 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 CYP11A1 CYP17A1 CYP21A2
46 cortisone reductase deficiency 10.1 CYP11A1 CYP17A1 CYP21A2
47 adrenal adenoma 10.1 CYP11A1 CYP17A1 CYP21A2
48 adrenal carcinoma 10.1 CYP11A1 CYP17A1 CYP21A2
49 lipoid congenital adrenal hyperplasia 10.1 CYP11A1 CYP17A1 CYP21A2
50 pure autonomic failure 10.1 DDC TH

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...

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

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
2 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
3 opacification of the corneal stroma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007759
4 autoimmunity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002960
5 hypoparathyroidism 60 33 very rare (1%) Very frequent (99-80%) HP:0000829
6 abnormality of the cerebral vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0100659
7 chronic mucocutaneous candidiasis 60 33 very rare (1%) Very frequent (99-80%) HP:0002728
8 adrenal hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008221
9 decreased circulating aldosterone level 33 hallmark (90%) HP:0004319
10 increased circulating cortisol level 33 hallmark (90%) HP:0003118
11 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
12 abnormal calcium-phosphate regulating hormone level 33 hallmark (90%) HP:0100530
13 cataract 60 33 very rare (1%) Frequent (79-30%) HP:0000518
14 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
15 alopecia 60 33 very rare (1%) Occasional (29-5%) HP:0001596
16 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
17 primary adrenal insufficiency 60 33 very rare (1%) Very frequent (99-80%) HP:0008207
18 hypothyroidism 33 very rare (1%) HP:0000821
19 malabsorption 33 very rare (1%) HP:0002024
20 vitiligo 33 very rare (1%) HP:0001045
21 nephrocalcinosis 33 very rare (1%) HP:0000121
22 chronic atrophic gastritis 33 very rare (1%) HP:0002582
23 hypoplasia of dental enamel 33 very rare (1%) HP:0006297
24 keratoconjunctivitis 33 very rare (1%) HP:0001096
25 diabetes mellitus 33 HP:0000819
26 type i diabetes mellitus 33 HP:0100651
27 anemia 33 HP:0001903
28 pallor 33 HP:0000980
29 abnormality of the fingernails 60 Very frequent (99-80%)
30 reduced visual acuity 33 HP:0007663
31 cholelithiasis 33 HP:0001081
32 male hypogonadism 33 HP:0000026
33 abnormality of calcium-phosphate metabolism 60 Very frequent (99-80%)
34 diarrhea 33 HP:0002014
35 hypercortisolism 60 Very frequent (99-80%)
36 constriction of peripheral visual field 33 HP:0001133
37 asplenia 33 HP:0001746
38 female hypogonadism 33 HP:0000134
39 hypoaldosteronism 60 Very frequent (99-80%)
40 pigmentary retinopathy 33 HP:0000580
41 chronic active hepatitis 33 HP:0200120
42 decreased circulating parathyroid hormone level 33 HP:0031817

Symptoms via clinical synopsis from OMIM:

58
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

Abdomen Spleen:
asplenia

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

Immunology:
chronic mucocutaneous candidiasis

Head And Neck Eyes:
pigmentary retinopathy
keratoconjunctivitis
decreased visual acuity
keratopathy
waxy optic nerve pallor
more
Hematology:
pernicious anemia

Laboratory Abnormalities:
multiple autoantibodies
antiretinal antibodies

Clinical features from OMIM:

240300

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 AIRE CASR CYP11A1 CYP17A1 CYP1A2 DDC
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 AIRE CASR CCK CYP11A1 CYP1A2 GAD1
5 mortality/aging MP:0010768 9.97 AIRE CASR CYP11A1 CYP17A1 CYP1A2 DDC
6 nervous system MP:0003631 9.86 AIRE CCK CYP11A1 DDC GAD1 GAD2
7 no phenotypic analysis MP:0003012 9.63 AIRE CCK CYP1A2 GAD1 GAD2 TH
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 top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
2
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
5 Fat Emulsions, Intravenous Phase 4
6 Pharmaceutical Solutions Phase 4,Phase 2,Not Applicable
7 Soybean oil, phospholipid emulsion Phase 4
8 Anesthetics, Intravenous Phase 4
9 Soy Bean Phase 4
10 Anesthetics, General Phase 4
11 Parenteral Nutrition Solutions Phase 4
12 Hypnotics and Sedatives Phase 4
13 Anesthetics, Inhalation Phase 4
14 Anesthetics Phase 4
15 Central Nervous System Depressants Phase 4
16 Analgesics, Non-Narcotic Phase 4,Phase 2
17 Peripheral Nervous System Agents Phase 4,Phase 2
18 Analgesics Phase 4,Phase 2
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4
20 Anti-Infective Agents Phase 4,Phase 2
21 Anti-Bacterial Agents Phase 4,Phase 2
22 Anti-Inflammatory Agents Phase 4
23 Antirheumatic Agents Phase 4
24 Immunosuppressive Agents Phase 4
25 Angiogenesis Inhibitors Phase 4
26 Immunologic Factors Phase 4
27 Angiogenesis Modulating Agents Phase 4
28
Mineral oil Approved, Vet_approved Phase 2, Phase 3 8042-47-5
29
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2 14986
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3 59-02-9 14985
31 Tocotrienol Investigational Phase 2, Phase 3 6829-55-6
32 Omega 3 Fatty Acid Phase 2, Phase 3
33 Vitamins Phase 2, Phase 3
34 Tocopherols Phase 2, Phase 3
35 Tocotrienols Phase 2, Phase 3
36
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
37
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
38
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
39 Psychotropic Drugs Phase 2
40 Hormone Antagonists Phase 2
41 Epidiolex Phase 2
42 Hormones Phase 2
43 Neurotransmitter Agents Phase 2
44 Cannabinoid Receptor Agonists Phase 2
45 Olive Phase 2
46 Anticonvulsants Phase 2
47 Hallucinogens Phase 2
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
49 Antiparasitic Agents Phase 2
50 Antiprotozoal Agents Phase 2

Interventional clinical trials:

(show all 16)
# 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 Cannabinoids for Behavioral Problems in Children With ASD Completed NCT02956226 Phase 2 Cannabinoids - 99% pure cannabinoids mix;Placebo;Cannabinoids - whole plant extract
5 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
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 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
9 Efficacy of Vivomixx on Behaviour and Gut Function in Autism Spectrum Disorder Recruiting NCT03369431 Not Applicable
10 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741
11 Early Diagnostic of Sepsis and Potential Impact on Antibiotic Management Based on Serial.Pancreatic Stone Protein (PSP) Measured Using the AbioScope. Recruiting NCT03474809
12 Different Proprioceptive Neuromuscular Facilitation (PNF) Technique in Patients With Knee Osteoarthritis Recruiting NCT03615521 Not Applicable
13 Evaluation Genotypic, Phenotypic and Prognosis APECED Syndrome Active, not recruiting NCT03751683
14 Characterization of the Fungal Origins in the Autoimmune Polyendocrinopathy of Type 1 Compared With the Autoimmune Polyendocrinopathies of Type 2 Not yet recruiting NCT03800056
15 Return to Physical Activity Following Injury: Towards Understanding a More Accessible Solution for Shorter Recovery Time. Not yet recruiting NCT03899714 Not Applicable
16 Feasibility of Virtual Reality in Children With Neuromuscular Disease, Effectiveness of Virtual Reality and Biofeedback Not yet recruiting NCT03689660 Not Applicable

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 30 AIRE
2 Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 30

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:

42
Thyroid, Skin, Liver, Eye, Pituitary, T Cells, Testes

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

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

(show all 37)
# Title Authors Year
1
Cytokine Autoantibody Screening in the Swedish Addison Registry Identifies Patients With Undiagnosed APS1. ( 29069385 )
2018
2
Sugary Kefir Strain Lactobacillus mali APS1 Ameliorated Hepatic Steatosis by Regulation of SIRT-1/Nrf-2 and Gut Microbiota in Rats. ( 29508520 )
2018
3
A combination of Lactobacillus mali APS1 and dieting improved the efficacy of obesity treatment via manipulating gut microbiome in mice. ( 29670255 )
2018
4
Lack of mutagenicity, genotoxicity and developmental toxicity in safety assessment tests of Lactobacillus mali APS1. ( 30543670 )
2018
5
Correction: HPLC-MS/MS analyses show that the near-starchless aps1 and pgm leaves accumulate wild type levels of ADPglucose: further evidence for the occurrence of important ADPglucose biosynthetic pathway(s) alternative to the pPGI-pPGM-AGP pathway. ( 25803451 )
2015
6
ACHT4-driven oxidation of APS1 attenuates starch synthesis under low light intensity in Arabidopsis plants. ( 26424450 )
2015
7
HPLC-MS/MS analyses show that the near-Starchless aps1 and pgm leaves accumulate wild type levels of ADPglucose: further evidence for the occurrence of important ADPglucose biosynthetic pathway(s) alternative to the pPGI-pPGM-AGP pathway. ( 25133777 )
2014
8
Mutagenesis of cysteine 81 prevents dimerization of the APS1 subunit of ADP-glucose pyrophosphorylase and alters diurnal starch turnover in Arabidopsis thaliana leaves. ( 22098298 )
2012
9
Hepatitis and the polyglandular autoimmune syndrome, type 1. ( 22312376 )
2011
10
Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians. ( 19807739 )
2009
11
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. ( 19758376 )
2009
12
An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE). ( 17891543 )
2008
13
Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire. ( 18414681 )
2008
14
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. ( 17118990 )
2007
15
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9. ( 17539912 )
2007
16
The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus. ( 17284223 )
2007
17
Lessons on immune tolerance from the monogenic disease APS1. ( 17466510 )
2007
18
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. ( 16965330 )
2006
19
Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. ( 16290093 )
2005
20
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. ( 16114041 )
2005
21
Polyglandular autoimmune syndrome type 1 without chronic mucocutaneous candidiasis in a 16 year-old male. ( 12585347 )
2003
22
Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. ( 14557425 )
2003
23
Disruption and overexpression of the Schizosaccharomyces pombe aps1 gene, and effects on growth rate, morphology and intracellular diadenosine 5',5"'-P1,P5-pentaphosphate and diphosphoinositol polyphosphate concentrations. ( 12387729 )
2003
24
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. ( 12050215 )
2002
25
A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis. ( 11600535 )
2001
26
APECED mutations in the autoimmune regulator (AIRE) gene. ( 11524731 )
2001
27
Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. ( 10946904 )
2000
28
A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. ( 10720083 )
2000
29
Schizosaccharomyces pombe Aps1, a diadenosine 5',5' "-P1, P6-hexaphosphate hydrolase that is a member of the nudix (MutT) family of hydrolases: cloning of the gene and characterization of the purified enzyme. ( 10090752 )
1999
30
Mutation analyses of North American APS-1 patients. ( 9888391 )
1999
31
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. ( 9856486 )
1998
32
Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). ( 9921903 )
1998
33
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. ( 9837820 )
1998
34
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. ( 9398840 )
1997
35
Positional cloning of the APECED gene. ( 9398839 )
1997
36
The Saccharomyces cerevisiae APS1 gene encodes a homolog of the small subunit of the mammalian clathrin AP-1 complex: evidence for functional interaction with clathrin at the Golgi complex. ( 8157009 )
1994
37
[An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism]. ( 6031738 )
1967

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:

76 (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 272)
# 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 NM_000383.3(AIRE): c.239T> G (p.Val80Gly) single nucleotide variant Pathogenic rs267606642 GRCh37 Chromosome 21, 45706546: 45706546
16 AIRE NM_000383.3(AIRE): c.239T> G (p.Val80Gly) single nucleotide variant Pathogenic rs267606642 GRCh38 Chromosome 21, 44286663: 44286663
17 AIRE NM_000383.3(AIRE): c.1203T> C (p.Pro401=) single nucleotide variant Benign rs61737072 GRCh37 Chromosome 21, 45712983: 45712983
18 AIRE NM_000383.3(AIRE): c.1203T> C (p.Pro401=) single nucleotide variant Benign rs61737072 GRCh38 Chromosome 21, 44293100: 44293100
19 AIRE NM_000383.3(AIRE): c.1279-18C> T single nucleotide variant Uncertain significance rs72650678 GRCh37 Chromosome 21, 45713654: 45713654
20 AIRE NM_000383.3(AIRE): c.1279-18C> T single nucleotide variant Uncertain significance rs72650678 GRCh38 Chromosome 21, 44293771: 44293771
21 AIRE NM_000383.3(AIRE): c.1296G> A (p.Ala432Ala=) single nucleotide variant Benign/Likely benign rs144359012 GRCh37 Chromosome 21, 45713689: 45713689
22 AIRE NM_000383.3(AIRE): c.1296G> A (p.Ala432Ala=) single nucleotide variant Benign/Likely benign rs144359012 GRCh38 Chromosome 21, 44293806: 44293806
23 AIRE NM_000383.3(AIRE): c.1404G> A (p.Thr468Thr=) single nucleotide variant Benign/Likely benign rs7281600 GRCh37 Chromosome 21, 45714287: 45714287
24 AIRE NM_000383.3(AIRE): c.1404G> A (p.Thr468Thr=) single nucleotide variant Benign/Likely benign rs7281600 GRCh38 Chromosome 21, 44294404: 44294404
25 AIRE NM_000383.3(AIRE): c.1567-5C> T single nucleotide variant Benign/Likely benign rs192215705 GRCh37 Chromosome 21, 45717534: 45717534
26 AIRE NM_000383.3(AIRE): c.1567-5C> T single nucleotide variant Benign/Likely benign rs192215705 GRCh38 Chromosome 21, 44297651: 44297651
27 AIRE NM_000383.3(AIRE): c.342G> T (p.Lys114Asn) single nucleotide variant Likely pathogenic rs142788946 GRCh37 Chromosome 21, 45706895: 45706895
28 AIRE NM_000383.3(AIRE): c.342G> T (p.Lys114Asn) single nucleotide variant Likely pathogenic rs142788946 GRCh38 Chromosome 21, 44287012: 44287012
29 AIRE NM_000383.3(AIRE): c.371C> T (p.Pro124Leu) single nucleotide variant Likely pathogenic rs193922417 GRCh37 Chromosome 21, 45706924: 45706924
30 AIRE NM_000383.3(AIRE): c.371C> T (p.Pro124Leu) single nucleotide variant Likely pathogenic rs193922417 GRCh38 Chromosome 21, 44287041: 44287041
31 AIRE NM_000383.3(AIRE): c.463G> A (p.Gly155Ser) single nucleotide variant Likely pathogenic rs193922418 GRCh37 Chromosome 21, 45707016: 45707016
32 AIRE NM_000383.3(AIRE): c.463G> A (p.Gly155Ser) single nucleotide variant Likely pathogenic rs193922418 GRCh38 Chromosome 21, 44287133: 44287133
33 AIRE NM_000383.3(AIRE): c.538+42delA deletion Uncertain significance rs3214074 GRCh37 Chromosome 21, 45707516: 45707516
34 AIRE NM_000383.3(AIRE): c.538+42delA deletion Uncertain significance rs3214074 GRCh38 Chromosome 21, 44287633: 44287633
35 AIRE NM_000383.3(AIRE): c.652+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41277546 GRCh37 Chromosome 21, 45708355: 45708355
36 AIRE NM_000383.3(AIRE): c.652+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41277546 GRCh38 Chromosome 21, 44288472: 44288472
37 AIRE NM_000383.3(AIRE): c.755C> T (p.Pro252Leu) single nucleotide variant Benign/Likely benign rs34397615 GRCh37 Chromosome 21, 45709642: 45709642
38 AIRE NM_000383.3(AIRE): c.755C> T (p.Pro252Leu) single nucleotide variant Benign/Likely benign rs34397615 GRCh38 Chromosome 21, 44289759: 44289759
39 AIRE NM_000383.3(AIRE): c.99T> C (p.Ala33=) single nucleotide variant Benign rs3746964 GRCh37 Chromosome 21, 45705988: 45705988
40 AIRE NM_000383.3(AIRE): c.99T> C (p.Ala33=) single nucleotide variant Benign rs3746964 GRCh38 Chromosome 21, 44286105: 44286105
41 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic rs386833672 GRCh37 Chromosome 21, 45712943: 45712944
42 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic rs386833672 GRCh38 Chromosome 21, 44293060: 44293061
43 AIRE NM_000383.3(AIRE): c.1638A> T (p.Ter546Cys) single nucleotide variant Likely pathogenic rs386833673 GRCh37 Chromosome 21, 45717610: 45717610
44 AIRE NM_000383.3(AIRE): c.1638A> T (p.Ter546Cys) single nucleotide variant Likely pathogenic rs386833673 GRCh38 Chromosome 21, 44297727: 44297727
45 AIRE NM_000383.3(AIRE): c.932G> A (p.Cys311Tyr) single nucleotide variant Likely pathogenic rs386833674 GRCh37 Chromosome 21, 45711030: 45711030
46 AIRE NM_000383.3(AIRE): c.932G> A (p.Cys311Tyr) single nucleotide variant Likely pathogenic rs386833674 GRCh38 Chromosome 21, 44291147: 44291147
47 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh37 Chromosome 21, 45717588: 45717588
48 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh38 Chromosome 21, 44297705: 44297705
49 AIRE NM_000383.3(AIRE): c.254A> G (p.Tyr85Cys) single nucleotide variant Pathogenic rs179363882 GRCh37 Chromosome 21, 45706561: 45706561
50 AIRE NM_000383.3(AIRE): c.254A> G (p.Tyr85Cys) single nucleotide variant Pathogenic rs179363882 GRCh38 Chromosome 21, 44286678: 44286678

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
13.84 CYP11A1 CYP17A1 CYP1A2 CYP21A2 DDC GAD1
2 12.19 DDC GAD1 GAD2 TH TPH1
4 12.04 CYP11A1 CYP17A1 CYP1A2 GAD1 GAD2
5 11.96 DDC TH TPH1
6
Show member pathways
11.68 CYP1A2 DDC 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 11.17 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
11.08 CYP11A1 CYP17A1 CYP1A2 CYP21A2
16
Show member pathways
11.05 TH TPH1
17 11.03 DDC TPH1
18
Show member pathways
10.9 CYP17A1 CYP21A2
19
Show member pathways
10.8 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 23)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 CYP11A1 CYP17A1 CYP1A2 CYP21A2 TH TPH1
2 response to drug GO:0042493 9.88 CYP1A2 GAD1 GAD2 TH
3 response to organic cyclic compound GO:0014070 9.77 CASR CYP1A2 TH
4 steroid biosynthetic process GO:0006694 9.71 CYP11A1 CYP17A1 CYP21A2
5 steroid metabolic process GO:0008202 9.67 CYP11A1 CYP17A1 CYP1A2 CYP21A2
6 eating behavior GO:0042755 9.61 CCK TH
7 response to metal ion GO:0010038 9.61 CASR TH
8 multicellular organism aging GO:0010259 9.6 DDC TH
9 dopamine biosynthetic process GO:0042416 9.58 DDC TH
10 aromatic amino acid family metabolic process GO:0009072 9.57 TH TPH1
11 cellular response to alkaloid GO:0071312 9.56 DDC TH
12 catecholamine biosynthetic process GO:0042423 9.55 DDC TH
13 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.52 DDC TH
14 response to pyrethroid GO:0046684 9.51 DDC TH
15 isoquinoline alkaloid metabolic process GO:0033076 9.49 DDC TH
16 serotonin biosynthetic process GO:0042427 9.48 DDC TPH1
17 glutamate decarboxylation to succinate GO:0006540 9.43 GAD1 GAD2
18 response to immobilization stress GO:0035902 9.43 CYP1A2 TH TPH1
19 phytoalexin metabolic process GO:0052314 9.4 DDC TH
20 carboxylic acid metabolic process GO:0019752 9.33 DDC GAD1 GAD2
21 sterol metabolic process GO:0016125 9.32 CYP11A1 CYP21A2
22 neurotransmitter biosynthetic process GO:0042136 9.13 GAD1 GAD2 TH
23 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 heme binding GO:0020037 9.67 CYP11A1 CYP17A1 CYP1A2 CYP21A2
4 pyridoxal phosphate binding GO:0030170 9.65 DDC GAD1 GAD2
5 oxygen binding GO:0019825 9.52 CYP17A1 TH
6 carboxy-lyase activity GO:0016831 9.5 DDC GAD1 GAD2
7 glutamate binding GO:0016595 9.49 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 9.46 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 10.11 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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