APS1
MCID: ATM096
MIFTS: 60

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
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 hepatitis, 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. Affiliated tissues include skin, eye and lung, 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 top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 autoimmune polyendocrine syndrome, type ii 31.8 GAD1 GAD2
2 autoimmune hepatitis 30.0 AIRE CYP1A2 DDC
3 limbic encephalitis 29.9 GAD1 GAD2
4 autoimmune polyendocrine syndrome type 1 29.3 AIRE CASR CYP21A2 DDC TH TPH1
5 autoimmune polyendocrine syndrome 29.0 AIRE CASR CYP11A1 DDC GAD1 GAD2
6 autoimmune oophoritis 11.3
7 autoimmune disease 10.6
8 hypoparathyroidism 10.6
9 chronic mucocutaneous candidiasis 10.6
10 panniculitis 10.5
11 lung disease 10.5
12 cataract 10.4
13 keratopathy 10.4
14 leukemia 10.4
15 pure red-cell aplasia 10.4
16 oral candidiasis 10.4
17 urticaria 10.4
18 long qt syndrome 10.4
19 myopathy 10.4
20 thyroiditis 10.4
21 herpes simplex 10.4
22 viral infectious disease 10.4
23 large granular lymphocyte leukemia 10.4
24 autoimmune hypoparathyroidism 10.4
25 autoimmune addison disease 10.2 AIRE CYP21A2
26 acute adrenal insufficiency 10.2 CYP11A1 CYP21A2
27 turner syndrome 10.2
28 psoriasis 10.2
29 hypoparathyroidism, familial isolated 10.2 AIRE CASR
30 transsexualism 10.2 CYP17A1 CYP21A2
31 alopecia 10.2
32 sex differentiation disease 10.1 CYP17A1 CYP21A2
33 supratentorial primitive neuroectodermal tumor 10.1 DDC TH
34 antley-bixler syndrome 10.1 CYP17A1 CYP21A2
35 adrenal cortical hypofunction 10.1 AIRE CYP11A1 CYP21A2
36 thymoma 10.1
37 holoprosencephaly 1 10.1 AIRE TRAPPC10
38 parathyroid gland disease 10.1 AIRE CASR
39 pure autonomic failure 10.1 DDC TH
40 testicular leydig cell tumor 10.1 CYP11A1 CYP17A1 CYP21A2
41 leydig cell tumor 10.1 CYP11A1 CYP17A1 CYP21A2
42 steroid inherited metabolic disorder 10.1 CYP11A1 CYP17A1 CYP21A2
43 adrenal cortical adenoma 10.1 CYP11A1 CYP17A1 CYP21A2
44 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 CYP11A1 CYP17A1 CYP21A2
45 cortisone reductase deficiency 10.1 CYP11A1 CYP17A1 CYP21A2
46 adrenal adenoma 10.1 CYP11A1 CYP17A1 CYP21A2
47 adrenal carcinoma 10.1 CYP11A1 CYP17A1 CYP21A2
48 lipoid congenital adrenal hyperplasia 10.1 CYP11A1 CYP17A1 CYP21A2
49 dopamine beta-hydroxylase deficiency, congenital 10.1 DDC TH
50 systemic lupus erythematosus 10.1

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

Abdomen Spleen:
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 37)
# 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 pallor 32 HP:0000980
20 vitiligo 32 HP:0001045
21 reduced visual acuity 32 HP:0007663
22 cholelithiasis 32 HP:0001081
23 primary adrenal insufficiency 59 Very frequent (99-80%)
24 diarrhea 32 HP:0002014
25 hypercortisolism 59 Very frequent (99-80%)
26 constriction of peripheral visual field 32 HP:0001133
27 chronic atrophic gastritis 32 HP:0002582
28 asplenia 32 HP:0001746
29 decreased circulating aldosterone level 32 hallmark (90%) HP:0004319
30 female hypogonadism 32 HP:0000134
31 increased circulating cortisol level 32 hallmark (90%) HP:0003118
32 hypoaldosteronism 59 Very frequent (99-80%)
33 pigmentary retinopathy 32 HP:0000580
34 hypoplasia of dental enamel 32 HP:0006297
35 keratoconjunctivitis 32 HP:0001096
36 chronic active hepatitis 32 HP:0200120
37 decreased circulating parathyroid hormone level 32 HP:0031817

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 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...

Search Clinical Trials , 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, Eye, Lung, Liver, Thyroid, T Cells, B Cells

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
Hepatitis and the polyglandular autoimmune syndrome, type 1. ( 22312376 )
2011
2
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 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.1322C> T (p.Thr441Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72650677 GRCh37 Chromosome 21, 45713715: 45713715
24 AIRE NM_000383.3(AIRE): c.1322C> T (p.Thr441Met) single nucleotide variant Conflicting interpretations of pathogenicity rs72650677 GRCh38 Chromosome 21, 44293832: 44293832
25 AIRE NM_000383.3(AIRE): c.1404G> A (p.Thr468Thr=) single nucleotide variant Benign/Likely benign rs7281600 GRCh37 Chromosome 21, 45714287: 45714287
26 AIRE NM_000383.3(AIRE): c.1404G> A (p.Thr468Thr=) single nucleotide variant Benign/Likely benign rs7281600 GRCh38 Chromosome 21, 44294404: 44294404
27 AIRE NM_000383.3(AIRE): c.1567-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192215705 GRCh37 Chromosome 21, 45717534: 45717534
28 AIRE NM_000383.3(AIRE): c.1567-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192215705 GRCh38 Chromosome 21, 44297651: 44297651
29 AIRE NM_000383.3(AIRE): c.342G> T (p.Lys114Asn) single nucleotide variant Likely pathogenic rs142788946 GRCh37 Chromosome 21, 45706895: 45706895
30 AIRE NM_000383.3(AIRE): c.342G> T (p.Lys114Asn) single nucleotide variant Likely pathogenic rs142788946 GRCh38 Chromosome 21, 44287012: 44287012
31 AIRE NM_000383.3(AIRE): c.371C> T (p.Pro124Leu) single nucleotide variant Likely pathogenic rs193922417 GRCh37 Chromosome 21, 45706924: 45706924
32 AIRE NM_000383.3(AIRE): c.371C> T (p.Pro124Leu) single nucleotide variant Likely pathogenic rs193922417 GRCh38 Chromosome 21, 44287041: 44287041
33 AIRE NM_000383.3(AIRE): c.463G> A (p.Gly155Ser) single nucleotide variant Likely pathogenic rs193922418 GRCh37 Chromosome 21, 45707016: 45707016
34 AIRE NM_000383.3(AIRE): c.463G> A (p.Gly155Ser) single nucleotide variant Likely pathogenic rs193922418 GRCh38 Chromosome 21, 44287133: 44287133
35 AIRE NM_000383.3(AIRE): c.538+42delA deletion Uncertain significance rs3214074 GRCh37 Chromosome 21, 45707516: 45707516
36 AIRE NM_000383.3(AIRE): c.538+42delA deletion Uncertain significance rs3214074 GRCh38 Chromosome 21, 44287633: 44287633
37 AIRE NM_000383.3(AIRE): c.652+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41277546 GRCh37 Chromosome 21, 45708355: 45708355
38 AIRE NM_000383.3(AIRE): c.652+14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs41277546 GRCh38 Chromosome 21, 44288472: 44288472
39 AIRE NM_000383.3(AIRE): c.755C> T (p.Pro252Leu) single nucleotide variant Benign/Likely benign rs34397615 GRCh37 Chromosome 21, 45709642: 45709642
40 AIRE NM_000383.3(AIRE): c.755C> T (p.Pro252Leu) single nucleotide variant Benign/Likely benign rs34397615 GRCh38 Chromosome 21, 44289759: 44289759
41 AIRE NM_000383.3(AIRE): c.99T> C (p.Ala33=) single nucleotide variant Benign rs3746964 GRCh37 Chromosome 21, 45705988: 45705988
42 AIRE NM_000383.3(AIRE): c.99T> C (p.Ala33=) single nucleotide variant Benign rs3746964 GRCh38 Chromosome 21, 44286105: 44286105
43 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic rs386833672 GRCh37 Chromosome 21, 45712943: 45712944
44 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic rs386833672 GRCh38 Chromosome 21, 44293060: 44293061
45 AIRE NM_000383.3(AIRE): c.1638A> T (p.Ter546Cys) single nucleotide variant Likely pathogenic rs386833673 GRCh37 Chromosome 21, 45717610: 45717610
46 AIRE NM_000383.3(AIRE): c.1638A> T (p.Ter546Cys) single nucleotide variant Likely pathogenic rs386833673 GRCh38 Chromosome 21, 44297727: 44297727
47 AIRE NM_000383.3(AIRE): c.932G> A (p.Cys311Tyr) single nucleotide variant Likely pathogenic rs386833674 GRCh37 Chromosome 21, 45711030: 45711030
48 AIRE NM_000383.3(AIRE): c.932G> A (p.Cys311Tyr) single nucleotide variant Likely pathogenic rs386833674 GRCh38 Chromosome 21, 44291147: 44291147
49 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh37 Chromosome 21, 45717588: 45717588
50 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh38 Chromosome 21, 44297705: 44297705

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
13.82 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
11.08 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
10.8 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 sterol metabolic process GO:0016125 9.5 CYP11A1 CYP17A1 CYP21A2
16 isoquinoline alkaloid metabolic process GO:0033076 9.49 DDC TH
17 serotonin biosynthetic process GO:0042427 9.48 DDC TPH1
18 glutamate decarboxylation to succinate GO:0006540 9.43 GAD1 GAD2
19 response to immobilization stress GO:0035902 9.43 CYP1A2 TH TPH1
20 phytoalexin metabolic process GO:0052314 9.4 DDC TH
21 carboxylic acid metabolic process GO:0019752 9.33 DDC GAD1 GAD2
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...

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