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 57
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 57 20 43 72
Polyglandular Autoimmune Syndrome, Type 1 43 29 6 39
Apeced 57 43 72 54
Aps1 57 43 58 72
Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 57 29 13
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 57 20 72
Autoimmune Polyendocrinopathy Syndrome Type 1 20 43 36
Pga I 57 43 72
Autoimmune Polyendocrine Syndrome Type 1 20 58
Autoimmune Polyglandular Syndrome Type 1 20 58
Polyglandular Type I Autoimmune Syndrome 43 70
Whitaker Syndrome 20 72
Aps Type 1 43 58
Autoimmune Polyendocrine Syndrome 1, with or Without Reversible Metaphyseal Dysplasia 72
Autoimmune Hypoparathyroidism-Chronic Candidiasis-Addison Disease Syndrome 58
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 43
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome 58
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy; Apeced 57
Hypoparathyroidism-Addison Disease-Mucocutaneous Candidiasis Syndrome 58
Multiple Endocrine Deficiency-Addison Disease-Candidiasis Syndrome 58
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant 6
Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I 72
Polyglandular Deficiency Syndrome Persian-Jewish Type 72
Autoimmune Polyendocrinopathy Syndrome Type I 72
Autoimmune Polyglandular Syndrome, Type I 57
Polyglandular Autoimmune Syndrome, Type I 57
Autoimmune Polyglandular Syndrome, Type 1 43
Autoimmune Polyglandular Syndrome Type I 20
Polyglandular Autoimmune Syndrome Type 1 20
Type I Polyglandular Autoimmune Syndrome 20
Autoimmune Polyendocrine Syndrome Type I 72
Polyglandular Autoimmune Syndrome Type I 72
Autoimmune Polyendocrinopathy Type 1 58
Aire Deficiency 43
Apeced Syndrome 58
Medac Syndrome 58
Ham Syndrome 58
Aps I 57
Aps 1 20
Pga 1 20
Pga-I 20
Aps-1 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
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:

31
autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare gastroenterological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Rare immunological diseases


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

MedlinePlus Genetics : 43 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.In most cases, the signs and symptoms of APECED begin in childhood or adolescence. This condition commonly involves three characteristic features: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland insufficiency. Affected individuals typically have at least two of these features, and many have all three.CMC is a tendency to develop infections of the skin, the nails, and the moist lining of body cavities (mucous membranes) caused by a type of fungus called Candida. These infections, which are commonly known as yeast infections, are chronic, which means they recur and can last a long time. CMC is usually the first of the three characteristic features of APECED to become apparent in people with this disorder. Almost all affected individuals develop infections of the oral cavity (known as thrush). Infections of the tube that carries food from the mouth to the stomach (the esophagus) are also common, while the skin and nails are affected less often. In women, vaginal infections frequently occur.Other features of APECED result from the body's immune system attacking the network of hormone-producing glands (the endocrine system). The second characteristic feature of the disorder is hypoparathyroidism, which is a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Damage to the parathyroid glands leads to reduced parathyroid hormone production (hypoparathyroidism). Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. Serious effects of hypoparathyroidism, such spasms of the voicebox (larynx) leading to breathing problems and seizures, can be life-threatening.Damage to the small hormone-producing glands on top of each kidney (adrenal glands) results in a third major feature of APECED, adrenal gland insufficiency (autoimmune Addison disease). Reduced hormone production by the adrenal glands leads to signs and symptoms that can include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Other endocrine problems that can occur in APECED include type 1 diabetes resulting from impaired production of the hormone insulin; a shortage of growth hormone leading to short stature; problems affecting the internal reproductive organs (ovaries or testes) that can cause inability to conceive children (infertility); and dysfunction of the thyroid gland (a butterfly-shaped tissue in the lower neck), which can result in many symptoms including weight gain and fatigue.Autoimmune problems affecting non-endocrine tissues can lead to a variety of additional signs and symptoms in people with APECED. These features occur more often in North American populations than in European populations. Rashes that resemble hives (urticarial eruptions) are common and often occur in infancy and early childhood. Other early signs and symptoms may include thin enamel on the teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with difficulty in absorbing nutrients from food. Additional features that occur in people with APECED, many of which can lead to permanent organ and tissue damage if left untreated, include stomach irritation (gastritis), liver inflammation (hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis), vitamin B12 deficiency, hair loss (alopecia), loss of skin color in blotches (vitiligo), high blood pressure (hypertension), or a small (atrophic) or absent spleen (asplenia).

MalaCards based summary : Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to autoimmune polyendocrine syndrome, type ii and polyendocrinopathy, 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 Primary immunodeficiency and Metabolism. The drugs Levoleucovorin and Oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include skin, adrenal gland and eye, and related phenotypes are visual impairment and photophobia

GARD : 20 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. This syndrome can cause a variety of additional signs and symptoms, such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation. Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency. Complications of APS-1 can affect the bones, joints, skin, and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and several internal organs (kidneys, liver, lungs and the spleen). Anemia may also be present due to a lack of production of the red blood cells. Type 1 diabetes also occurs in some patients with this condition. APS-1 is progressive, with symptoms appearing at different time intervals (chronic mucocutaneous candidiasis and hypoparathyroidism classically appear early in childhood, whereas adrenal insufficiency usually start in the second decade of life). Diagnosis is suspected when there are at least two of these features, specially in young people. APS-1 is caused by variations ( mutations ) in the AIRE gene. Inheritance is autosomal recessive. Treatment may include hormone -replacement, and medication for candidiasis, as well as specific treatment of any complications. Patients with APS-1 are best followed by an endocrinologist and other specialists. Most people with APS-1, develop earlier and more severe symptoms than people with a related disease known as autoimmune polyendocrine syndrome type 2 (APS-2).

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) (Updated 20-May-2021)

KEGG : 36 Autoimmune polyendocrine syndrome type 1 (APS1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. It is characterized by multiple autoimmune endocrinopathies, chronic mucocutaneous candidiasis, and ectodermal dystrophies. APS1 has been reported to be inherited in an autosomal recessive manner. However, a novel mutation was recently described to be inherited in a dominant fashion.

UniProtKB/Swiss-Prot : 72 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.

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 296)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 31.3 GAD2 GAD1 AIRE
2 polyendocrinopathy 30.7 CYP11A1 AIRE
3 pernicious anemia 30.7 GAD2 AIRE
4 wissler-fanconi syndrome 30.6 TPH1 AIRE
5 autoimmune hepatitis type 2 30.2 CYP21A2 CYP17A1 CYP11A1
6 premature menopause 30.2 CYP21A2 CYP17A1 CYP11A1 AIRE
7 acute adrenal insufficiency 30.2 CYP21A2 CYP11A1
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.9 GAD2 GAD1 AIRE
9 celiac disease 1 29.9 GAD2 CYP21A2 CCK AIRE
10 autoimmune hepatitis 29.8 DDC CYP1A2 AIRE
11 stiff-person syndrome 29.8 TH GAD2 GAD1
12 autoimmune polyendocrine syndrome type 1 29.6 TPH1 TH DDC CYP21A2 CASR AIRE
13 hypoadrenocorticism, familial 29.1 TPH1 DDC CYP21A2 CYP17A1 CYP11A1 AIRE
14 limbic encephalitis 29.1 GAD2 GAD1
15 body mass index quantitative trait locus 11 28.7 GAD2 CYP21A2 CYP1A2 CYP11A1 CCK
16 autoimmune polyendocrine syndrome 28.4 TPH1 TH GAD2 GAD1 DDC CYP21A2
17 diabetes mellitus 28.0 TH GAD2 GAD1 CCK CASR AIRE
18 autoimmune oophoritis 11.3
19 oral candidiasis 10.7
20 keratopathy 10.5
21 keratitis, hereditary 10.5
22 ifap syndrome 2 10.5
23 gastritis 10.5
24 interstitial nephritis 10.4
25 uveitis 10.4
26 exocrine pancreatic insufficiency 10.4
27 cataract 10.4
28 herpes simplex 10.4
29 hair whorl 10.4
30 otitis media 10.4
31 ocular motor apraxia 10.4
32 hypothyroidism 10.4
33 panniculitis 10.4
34 squamous cell carcinoma 10.4
35 hypogonadism 10.4
36 dental caries 10.4
37 amelogenesis imperfecta 10.4
38 connective tissue disease 10.4
39 thyroiditis 10.4
40 lung disease 10.4
41 vasculitis 10.4
42 lupus erythematosus 10.4
43 keratoconjunctivitis 10.4
44 hypopituitarism 10.4
45 bronchiectasis 10.4
46 alopecia areata 10.4
47 autoimmune enteropathy 10.4
48 leukoplakia 10.4
49 autoimmune hypoparathyroidism 10.4
50 severe immune-mediated enteropathy 10.4

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 opacification of the corneal stroma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007759
4 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
5 autoimmunity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002960
6 hypoparathyroidism 58 31 very rare (1%) Very frequent (99-80%) HP:0000829
7 abnormality of the cerebral vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0100659
8 chronic mucocutaneous candidiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002728
9 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
10 adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008221
11 increased circulating cortisol level 31 hallmark (90%) HP:0003118
12 abnormal calcium-phosphate regulating hormone level 31 hallmark (90%) HP:0100530
13 cataract 58 31 very rare (1%) Frequent (79-30%) HP:0000518
14 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
15 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
16 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
17 hypothyroidism 31 very rare (1%) HP:0000821
18 malabsorption 31 very rare (1%) HP:0002024
19 type i diabetes mellitus 31 very rare (1%) HP:0100651
20 vitiligo 31 very rare (1%) HP:0001045
21 nephrocalcinosis 31 very rare (1%) HP:0000121
22 reduced visual acuity 31 very rare (1%) HP:0007663
23 nail dystrophy 31 very rare (1%) HP:0008404
24 pigmentary retinopathy 31 very rare (1%) HP:0000580
25 constriction of peripheral visual field 31 very rare (1%) HP:0001133
26 alopecia universalis 31 very rare (1%) HP:0002289
27 hypoplasia of dental enamel 31 very rare (1%) HP:0006297
28 keratoconjunctivitis 31 very rare (1%) HP:0001096
29 iridocyclitis 31 very rare (1%) HP:0001094
30 chronic atrophic gastritis 31 very rare (1%) HP:0002582
31 chronic oral candidiasis 31 very rare (1%) HP:0009098
32 chronic active hepatitis 31 very rare (1%) HP:0200120
33 tympanosclerosis 31 very rare (1%) HP:0020123
34 premature ovarian insufficiency 31 HP:0008209
35 cholelithiasis 31 HP:0001081
36 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
37 primary adrenal insufficiency 58 Very frequent (99-80%)
38 asplenia 31 HP:0001746
39 diarrhea 31 HP:0002014
40 male hypogonadism 31 HP:0000026
41 hypercortisolism 58 Very frequent (99-80%)
42 female hypogonadism 31 HP:0000134
43 perifoveal ring of hyperautofluorescence 31 HP:0030629
44 decreased circulating parathyroid hormone level 31 HP:0031817

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 External Genitalia Male:
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

Abdomen Spleen:
asplenia

Genitourinary Internal Genitalia Female:
hypogonadism

Immunology:
chronic mucocutaneous candidiasis

Hematology:
pernicious anemia

Laboratory Abnormalities:
multiple autoantibodies
antiretinal antibodies

Clinical features from OMIM®:

240300 (Updated 20-May-2021)

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 10.25 AIRE CASR CCK CYP11A1 CYP17A1 CYP1A2
2 growth/size/body region MP:0005378 10.11 AIRE CASR CYP11A1 CYP17A1 CYP21A2 DDC
3 endocrine/exocrine gland MP:0005379 10.1 AIRE CASR CCK CYP11A1 CYP1A2 GAD1
4 homeostasis/metabolism MP:0005376 10.1 AIRE CASR CCK CYP11A1 CYP17A1 CYP1A2
5 mortality/aging MP:0010768 9.96 AIRE CASR CYP11A1 CYP17A1 CYP1A2 CYP21A2
6 nervous system MP:0003631 9.81 AIRE CASR CCK CYP11A1 DDC GAD1
7 no phenotypic analysis MP:0003012 9.43 AIRE CCK CYP1A2 GAD1 GAD2 TH
8 respiratory system MP:0005388 9.1 AIRE CYP1A2 GAD1 GAD2 TH TPH1

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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
2
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
3
Fluorouracil Approved Phase 3 51-21-8 3385
4
leucovorin Approved Phase 3 58-05-9 6006
5
Raltitrexed Approved, Investigational Phase 3 112887-68-0 104758
6
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
8 Folate Phase 3
9 Vitamin B9 Phase 3
10 Micronutrients Phase 3
11 Folic Acid Antagonists Phase 3
12 Antidotes Phase 3
13 Trace Elements Phase 3
14 Nutrients Phase 3
15 Vitamin B Complex Phase 3
16 Hormones Phase 3
17 Protective Agents Phase 3
18 Vitamins Phase 3
19 Antimetabolites Phase 3
20 Calcium, Dietary Phase 3
21
Calcium Nutraceutical Phase 3 7440-70-2 271
22
Cetuximab Approved Phase 1, Phase 2 205923-56-4 56842117 2333
23
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
24 Antineoplastic Agents, Immunological Phase 1, Phase 2
25
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
26
Tryptophan Approved, Nutraceutical, Withdrawn 73-22-3 6305
27
Glutamic acid Approved, Nutraceutical 56-86-0 33032
28 Immunologic Factors
29 Immunoglobulins
30 Dopa Decarboxylase
31 Antibodies
32 Autoantibodies
33
Leucine Investigational, Nutraceutical 61-90-5 6106

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter, Randomized Controlled Trial Designed to Evaluate the Efficacy and Safety of Adjuvant Hyperthermic Intraperitoneal Chemotherapy (HIPEC) With Raltitrexed or Oxaliplatin Versus no HIPEC in Locally Advanced Colorectal Cancer (APEC Study) Recruiting NCT02965248 Phase 3 Standard adjuvant systemic chemotherapy
2 An Asia Pacific Non-randomized, Open-label Phase II Study Evaluating the Safety and Efficacy of FOLFIRI Plus Cetuximab (Erbitux) or FOLFOX Plus Cetuximab as First-line Therapy in Subjects With KRAS Wild-type Metastatic Colorectal Cancer (APEC-Study) Completed NCT00778830 Phase 1, Phase 2 Cetuximab;FOLFIRI;FOLFOX
3 Evaluation Genotypic, Phenotypic and Prognosis Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome Unknown status NCT03751683
4 Tyrosine Hydroxylase Antibody Levels in Autoimmune Polyglandular Syndrome Type 1 Associated Keratitis Completed NCT04375852
5 The Acute Pulmonary Embolism 1 (APE 1) Trial: Prospective Investigation of Scintigraphic Diagnosis and Pathophysiology of Right Heart Strain Terminated NCT00302601

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:

40
Skin, Adrenal Gland, Eye, Spleen, Kidney, Testes, Liver

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 top 50) (show all 365)
# Title Authors PMID Year
1
Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians. 6 57 54
19807739 2009
2
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients. 61 57 6
19758376 2009
3
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. 57 6 54
17118990 2007
4
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. 54 6 57
16114041 2005
5
Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. 54 6 57
14557425 2003
6
Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. 57 54 6
11524733 2001
7
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. 6 57 54
10677297 2000
8
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. 6 57 61
9837820 1998
9
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. 54 57 6
9856486 1998
10
Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9. 6 57
17539912 2007
11
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. 6 57
16965330 2006
12
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. 6 57
12050215 2002
13
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. 57 6
11600535 2001
14
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. 57 6
9717837 1998
15
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. 57 6
9398840 1997
16
Positional cloning of the APECED gene. 6 57
9398839 1997
17
[An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism]. 57 6
6031738 1967
18
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. 6 61
28446514 2017
19
Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series. 61 57
25926518 2015
20
Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1. 61 6
26114819 2015
21
Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. 6 54
19863576 2010
22
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. 6 61
20453472 2010
23
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. 6 54
18616706 2009
24
Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers. 54 6
18274776 2008
25
Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. 6 54
18728167 2008
26
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. 6 54
18426830 2008
27
Ocular complications of autoimmune polyendocrinopathy syndrome type 1. 61 6
17189144 2006
28
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population. 54 6
17220063 2006
29
Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. 57 54
15886230 2005
30
APECED-causing mutations in AIRE reveal the functional domains of the protein. 6 54
14974083 2004
31
Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. 54 57
14764761 2004
32
Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting. 54 6
12471056 2002
33
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. 54 6
11836330 2002
34
APECED mutations in the autoimmune regulator (AIRE) gene. 54 6
11524731 2001
35
Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 54 6
11275943 2001
36
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. 54 57
11207636 2001
37
Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 6 54
10946904 2000
38
Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I. 54 57
10946908 2000
39
A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. 6 54
10720083 2000
40
Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. 57 54
10623641 2000
41
Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). 61 6
9921903 1998
42
Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. 57 61
9141515 1997
43
Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. 57 54
8989249 1997
44
Delay in the Diagnosis of APECED: A Case Report and Review of Literature from Iran. 6
31588815 2020
45
Autoimmune Polyglandular Syndrome Type 1: a case report. 6
31420020 2019
46
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes. 6
30863741 2019
47
Rapid chromatin repression by Aire provides precise control of immune tolerance. 6
29335648 2018
48
The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages. 6
29666621 2018
49
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. 6
28911151 2017
50
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism. 6
28323927 2017

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

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

6 (show top 50) (show all 349)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AIRE NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) SNV Pathogenic 68222 rs179363882 GRCh37: 21:45706561-45706561
GRCh38: 21:44286678-44286678
2 AIRE NM_000383.4(AIRE):c.682G>T (p.Gly228Trp) SNV Pathogenic 3313 rs121434257 GRCh37: 21:45709569-45709569
GRCh38: 21:44289686-44289686
3 AIRE NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) SNV Pathogenic 3308 rs121434255 GRCh37: 21:45706554-45706554
GRCh38: 21:44286671-44286671
4 AIRE NM_000383.4(AIRE):c.967_979del (p.Leu323fs) Deletion Pathogenic 3309 rs386833675 GRCh37: 21:45711063-45711075
GRCh38: 21:44291180-44291192
5 AIRE NM_000383.4(AIRE):c.1513del (p.Ala505fs) Deletion Pathogenic 3312 rs387906294 GRCh37: 21:45716275-45716275
GRCh38: 21:44296392-44296392
6 AIRE NM_000383.4(AIRE):c.1A>T (p.Met1Leu) SNV Pathogenic 3314 rs121434258 GRCh37: 21:45705890-45705890
GRCh38: 21:44286007-44286007
7 AIRE NM_000383.4(AIRE):c.789del (p.Ala264fs) Deletion Pathogenic 3315 rs387906295 GRCh37: 21:45709676-45709676
GRCh38: 21:44289793-44289793
8 AIRE NM_000383.4(AIRE):c.239T>G (p.Val80Gly) SNV Pathogenic 3317 rs267606642 GRCh37: 21:45706546-45706546
GRCh38: 21:44286663-44286663
9 AIRE NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) Insertion Pathogenic 56221 rs386833672 GRCh37: 21:45712943-45712944
GRCh38: 21:44293060-44293061
10 AIRE NM_000383.4(AIRE):c.967_979del (p.Leu323fs) Deletion Pathogenic 3309 rs386833675 GRCh37: 21:45711063-45711075
GRCh38: 21:44291180-44291192
11 AIRE NM_000383.4(AIRE):c.1265del (p.Pro422fs) Deletion Pathogenic 265456 rs764878471 GRCh37: 21:45713044-45713044
GRCh38: 21:44293161-44293161
12 AIRE NC_000021.9:g.(?_44285987)_(44297747_?)del Deletion Pathogenic 458611 GRCh37: 21:45705870-45717630
GRCh38: 21:44285987-44297747
13 AIRE NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) SNV Pathogenic 379319 rs140630532 GRCh37: 21:45706581-45706581
GRCh38: 21:44286698-44286698
14 AIRE NM_000383.4(AIRE):c.1096-1G>A SNV Pathogenic 551625 rs780906602 GRCh37: 21:45712875-45712875
GRCh38: 21:44292992-44292992
15 AIRE NM_000383.4(AIRE):c.1193del (p.Pro398fs) Deletion Pathogenic 551697 rs1555872988 GRCh37: 21:45712972-45712972
GRCh38: 21:44293089-44293089
16 AIRE NM_000383.4(AIRE):c.1567-2A>G SNV Pathogenic 551748 rs1555873650 GRCh37: 21:45717537-45717537
GRCh38: 21:44297654-44297654
17 AIRE NM_000383.4(AIRE):c.931del (p.Cys311fs) Deletion Pathogenic 554933 rs1555872755 GRCh37: 21:45711029-45711029
GRCh38: 21:44291146-44291146
18 AIRE NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) SNV Pathogenic 567249 rs1488613451 GRCh37: 21:45707405-45707405
GRCh38: 21:44287522-44287522
19 AIRE NM_000383.4(AIRE):c.958del (p.Leu320fs) Deletion Pathogenic 573407 rs1568928525 GRCh37: 21:45711055-45711055
GRCh38: 21:44291172-44291172
20 AIRE NM_000383.4(AIRE):c.132+1_132+3delinsCT Indel Pathogenic 279973 rs886041293 GRCh37: 21:45706022-45706024
GRCh38: 21:44286139-44286141
21 AIRE NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) SNV Pathogenic 648772 rs1601969308 GRCh37: 21:45713053-45713053
GRCh38: 21:44293170-44293170
22 AIRE NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) Duplication Pathogenic 636457 rs1601963938 GRCh37: 21:45705909-45705910
GRCh38: 21:44286026-44286027
23 AIRE NM_000383.4(AIRE):c.489dup (p.Lys164fs) Duplication Pathogenic 664355 rs746101086 GRCh37: 21:45707419-45707420
GRCh38: 21:44287536-44287537
24 AIRE NM_000383.4(AIRE):c.117del (p.Glu40fs) Deletion Pathogenic 803632 rs1248788128 GRCh37: 21:45706003-45706003
GRCh38: 21:44286120-44286120
25 AIRE NM_000383.4(AIRE):c.47C>T (p.Thr16Met) SNV Pathogenic 68227 rs179363877 GRCh37: 21:45705936-45705936
GRCh38: 21:44286053-44286053
26 AIRE NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) Insertion Pathogenic 585381 rs763695515 GRCh37: 21:45713688-45713689
GRCh38: 21:44293805-44293806
27 AIRE NM_000383.4(AIRE):c.789del (p.Ala264fs) Deletion Pathogenic 3315 rs387906295 GRCh37: 21:45709676-45709676
GRCh38: 21:44289793-44289793
28 AIRE NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) SNV Pathogenic 68232 rs179363885 GRCh37: 21:45711075-45711075
GRCh38: 21:44291192-44291192
29 AIRE NM_000383.4(AIRE):c.995+3_995+5delinsTAT Indel Pathogenic 966540 GRCh37: 21:45711096-45711098
GRCh38: 21:44291213-44291215
30 AIRE NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) Duplication Pathogenic 424080 rs940485051 GRCh37: 21:45707437-45707438
GRCh38: 21:44287554-44287555
31 AIRE NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) SNV Pathogenic 950721 GRCh37: 21:45706875-45706875
GRCh38: 21:44286992-44286992
32 AIRE NM_000383.4(AIRE):c.-17_27del (p.Met1fs) Deletion Pathogenic 954404 GRCh37: 21:45705869-45705912
GRCh38: 21:44285986-44286029
33 AIRE NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) SNV Pathogenic 973619 GRCh37: 21:45716311-45716311
GRCh38: 21:44296428-44296428
34 AIRE NM_000383.4(AIRE):c.1103dup (p.Leu370fs) Duplication Pathogenic 3311 rs387906293 GRCh37: 21:45712877-45712878
GRCh38: 21:44292994-44292995
35 AIRE NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) SNV Pathogenic 3310 rs121434256 GRCh37: 21:45706968-45706968
GRCh38: 21:44287085-44287085
36 AIRE NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) SNV Pathogenic 189060 rs179363880 GRCh37: 21:45706539-45706539
GRCh38: 21:44286656-44286656
37 AIRE NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) SNV Pathogenic 3307 rs121434254 GRCh37: 21:45709656-45709656
GRCh38: 21:44289773-44289773
38 AIRE NM_000383.4(AIRE):c.1095+2T>C SNV Pathogenic 646517 rs760280615 GRCh37: 21:45712286-45712286
GRCh38: 21:44292403-44292403
39 AIRE NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) Duplication Pathogenic 279674 rs886041124 GRCh37: 21:45706511-45706512
GRCh38: 21:44286628-44286629
40 AIRE NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) SNV Pathogenic 848152 GRCh37: 21:45708296-45708296
GRCh38: 21:44288413-44288413
41 AIRE NM_000383.4(AIRE):c.1249dup (p.Leu417fs) Duplication Pathogenic/Likely pathogenic 188935 rs786204567 GRCh37: 21:45713024-45713025
GRCh38: 21:44293141-44293142
42 AIRE NM_000383.4(AIRE):c.463+2T>C SNV Pathogenic/Likely pathogenic 188800 rs786204478 GRCh37: 21:45707018-45707018
GRCh38: 21:44287135-44287135
43 AIRE NM_000383.4(AIRE):c.62C>T (p.Ala21Val) SNV Likely pathogenic 68228 rs179363886 GRCh37: 21:45705951-45705951
GRCh38: 21:44286068-44286068
44 AIRE NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) SNV Likely pathogenic 56222 rs386833673 GRCh37: 21:45717610-45717610
GRCh38: 21:44297727-44297727
45 AIRE NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) SNV Likely pathogenic 56223 rs386833674 GRCh37: 21:45711030-45711030
GRCh38: 21:44291147-44291147
46 AIRE NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) SNV Likely pathogenic 68218 rs179363889 GRCh37: 21:45717588-45717588
GRCh38: 21:44297705-44297705
47 AIRE NM_000383.4(AIRE):c.1278+1del Deletion Likely pathogenic 370984 rs996389327 GRCh37: 21:45713058-45713058
GRCh38: 21:44293175-44293175
48 AIRE NM_000383.4(AIRE):c.1566+2dup Duplication Likely pathogenic 370846 rs1057516811 GRCh37: 21:45716329-45716330
GRCh38: 21:44296446-44296447
49 AIRE NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) Indel Likely pathogenic 370206 rs1057516314 GRCh37: 21:45707010-45707011
GRCh38: 21:44287127-44287128
50 AIRE NM_000383.4(AIRE):c.1476_1479CGCC[1] (p.Arg494fs) Microsatellite Likely pathogenic 371185 rs1057517072 GRCh37: 21:45714357-45714360
GRCh38: 21:44294474-44294477

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

72 (show all 19)
# 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.Pro326Leu VAR_026485 rs179363885
19 AIRE p.Pro539Leu VAR_026486 rs179363889

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 KEGG:

36
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 TPH1 TH GAD2 GAD1 DDC CYP21A2
2
Show member pathways
12.69 CYP21A2 CYP17A1 CYP11A1 CCK
3 12.19 TPH1 TH GAD2 GAD1 DDC
5 12.04 GAD2 GAD1 CYP1A2 CYP17A1 CYP11A1
6 11.97 TPH1 TH DDC
7
Show member pathways
11.62 TPH1 DDC CYP1A2
8 11.59 TPH1 TH DDC
9
Show member pathways
11.54 TPH1 DDC CYP1A2
10
Show member pathways
11.48 CYP21A2 CYP17A1 CYP11A1
11 11.44 TH GAD2 GAD1
12 11.2 GAD2 GAD1
13
Show member pathways
11.13 GAD2 GAD1
14
Show member pathways
11.1 TPH1 TH DDC
15 11.08 TH DDC
16
Show member pathways
11.08 CYP21A2 CYP1A2 CYP17A1 CYP11A1
17
Show member pathways
11.06 TPH1 TH
18 11.04 TPH1 DDC
19
Show member pathways
10.9 CYP21A2 CYP17A1
20
Show member pathways
10.81 GAD2 GAD1
21 10.78 GAD2 GAD1
22 10.68 TH DDC
23
Show member pathways
10.64 GAD2 GAD1
24 10.59 TH DDC
25 10.54 GAD2 GAD1
26
Show member pathways
10.36 TPH1 TH GAD2 GAD1 DDC

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 organelle membrane GO:0031090 9.5 CYP21A2 CYP1A2 CYP17A1
2 neuronal cell body GO:0043025 9.35 TH DDC CYP17A1 CCK CASR
3 inhibitory synapse GO:0060077 9.26 GAD2 GAD1
4 axon GO:0030424 9.17 TH GAD2 GAD1 DDC CYP17A1 CCK
5 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD2 GAD1

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 TPH1 TH CYP21A2 CYP1A2 CYP17A1 CYP11A1
2 response to drug GO:0042493 9.88 TH GAD2 GAD1 CYP1A2
3 response to organic cyclic compound GO:0014070 9.77 TH CYP1A2 CASR
4 steroid biosynthetic process GO:0006694 9.71 CYP21A2 CYP17A1 CYP11A1
5 sterol metabolic process GO:0016125 9.62 CYP21A2 CYP11A1
6 steroid metabolic process GO:0008202 9.62 CYP21A2 CYP1A2 CYP17A1 CYP11A1
7 eating behavior GO:0042755 9.61 TH CCK
8 response to metal ion GO:0010038 9.61 TH CASR
9 multicellular organism aging GO:0010259 9.59 TH DDC
10 dopamine biosynthetic process GO:0042416 9.58 TH DDC
11 cellular response to alkaloid GO:0071312 9.57 TH DDC
12 aromatic amino acid family metabolic process GO:0009072 9.56 TPH1 TH
13 catecholamine biosynthetic process GO:0042423 9.55 TH DDC
14 indolalkylamine biosynthetic process GO:0046219 9.52 TPH1 DDC
15 response to pyrethroid GO:0046684 9.51 TH DDC
16 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.49 TH DDC
17 serotonin biosynthetic process GO:0042427 9.48 TPH1 DDC
18 isoquinoline alkaloid metabolic process GO:0033076 9.46 TH DDC
19 response to immobilization stress GO:0035902 9.43 TPH1 TH CYP1A2
20 phytoalexin metabolic process GO:0052314 9.4 TH DDC
21 glutamate decarboxylation to succinate GO:0006540 9.37 GAD2 GAD1
22 carboxylic acid metabolic process GO:0019752 9.33 GAD2 GAD1 DDC
23 neurotransmitter biosynthetic process GO:0042136 9.13 TH GAD2 GAD1
24 glucocorticoid biosynthetic process GO:0006704 8.8 CYP21A2 CYP17A1 CYP11A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.13 TPH1 TH CYP21A2 CYP1A2 CYP17A1 CYP11A1
2 oxidoreductase activity GO:0016491 9.85 TPH1 TH CYP21A2 CYP1A2 CYP17A1 CYP11A1
3 heme binding GO:0020037 9.76 CYP21A2 CYP1A2 CYP17A1 CYP11A1
4 pyridoxal phosphate binding GO:0030170 9.67 GAD2 GAD1 DDC
5 carboxy-lyase activity GO:0016831 9.58 GAD2 GAD1 DDC
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.56 CYP21A2 CYP1A2 CYP17A1 CYP11A1
7 lyase activity GO:0016829 9.55 GAD2 GAD1 DDC CYP1A2 CYP17A1
8 oxygen binding GO:0019825 9.54 TH CYP17A1
9 glutamate binding GO:0016595 9.51 GAD2 GAD1
10 amino acid binding GO:0016597 9.5 TH DDC CASR
11 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 TPH1 TH
12 glutamate decarboxylase activity GO:0004351 9.43 GAD2 GAD1
13 iron ion binding GO:0005506 9.43 TPH1 TH CYP21A2 CYP1A2 CYP17A1 CYP11A1
14 monooxygenase activity GO:0004497 9.1 TPH1 TH CYP21A2 CYP1A2 CYP17A1 CYP11A1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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