Human Phenotype Ontology 
Grandparent Node:
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Abnormal immunoglobulin level (HP:0010701)help
Parent Node:
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Decreased circulating antibody level (HP:0004313)help
..Starting node
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Decreased circulating IgA level (HP:0002720)help
Term ID: 2720
Name: Decreased circulating IgA level
Synonym: Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels
Definition: Decreased levels of immunoglobulin A (IgA).
Comments:
Reference: HP:0002720
Genes and Diseases:
 
       Child Nodes:
........expandTotal immunoglobulin A deficiency (HP:0003460) help
........expandSecretory IgA deficiency (HP:0004433) help
........expandPartial IgA deficiency (HP:0011837) help

 Sister Nodes: 
..expandAgammaglobulinemia (HP:0004432) help
..expandDecreased circulating IgE (HP:0005479) help
..expandDecreased circulating IgG level (HP:0004315) help
..expandDecreased circulating total IgM (HP:0002850) help
..expandDysgammaglobulinemia (HP:0002961) help
..expandPanhypogammaglobulinemia (HP:0003139) help
..expandTransient hypogammaglobulinemia of infancy (HP:0005432) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002720HP:0002720Decreased circulating IgA level0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0002720HP:0002720Decreased circulating IgA level0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0002720HP:0002720Decreased circulating IgA level0AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM119913203605257
HP:0002720HP:0002720Decreased circulating IgA level0AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM117813203605257
HP:0002720HP:0002720Decreased circulating IgA level0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0002720HP:0002720Decreased circulating IgA level0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0002720HP:0002720Decreased circulating IgA level0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM124251058604610
HP:0002720HP:0002720Decreased circulating IgA level0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM120481058604610
HP:0002720HP:0002720Decreased circulating IgA level0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002720HP:0002720Decreased circulating IgA level0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002720HP:0002720Decreased circulating IgA level0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0002720HP:0002720Decreased circulating IgA level0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0002720HP:0002720Decreased circulating IgA level0CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM110911919109535
HP:0002720HP:0002720Decreased circulating IgA level0CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM17711919109535
HP:0002720HP:0002720Decreased circulating IgA level0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM132811935300386
HP:0002720HP:0002720Decreased circulating IgA level0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM130911935300386
HP:0002720HP:0002720Decreased circulating IgA level0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0002720HP:0002720Decreased circulating IgA level0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0002720HP:0002720Decreased circulating IgA level0CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM14532336120650
HP:0002720HP:0002720Decreased circulating IgA level0CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM13582336120650
HP:0002720HP:0002720Decreased circulating IgA level0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0002720HP:0002720Decreased circulating IgA level0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0002720HP:0002720Decreased circulating IgA level0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002720HP:0002720Decreased circulating IgA level0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002720HP:0002720Decreased circulating IgA level0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0002720HP:0002720Decreased circulating IgA level0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0002720HP:0002720Decreased circulating IgA level0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0002720HP:0002720Decreased circulating IgA level0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0002720HP:0002720Decreased circulating IgA level0IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13375961300248
HP:0002720HP:0002720Decreased circulating IgA level0IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13265961300248
HP:0002720HP:0002720Decreased circulating IgA level0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12436008147730
HP:0002720HP:0002720Decreased circulating IgA level0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12106008147730
HP:0002720HP:0002720Decreased circulating IgA level0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0002720HP:0002720Decreased circulating IgA level0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0002720HP:0002720Decreased circulating IgA level0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM113503942601231
HP:0002720HP:0002720Decreased circulating IgA level0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM111683942601231
HP:0002720HP:0002720Decreased circulating IgA level0PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM18219066600220
HP:0002720HP:0002720Decreased circulating IgA level0PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM16779066600220
HP:0002720HP:0002720Decreased circulating IgA level0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0002720HP:0002720Decreased circulating IgA level0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0002720HP:0002720Decreased circulating IgA level0RNF168 CL E G H165918420741ORPHA123226661612688
HP:0002720HP:0002720Decreased circulating IgA level0RNF168 CL E G H165918420741ORPHA114726661612688
HP:0002720HP:0002720Decreased circulating IgA level0TCN2 CL E G H6948859ORPHA135111653613441
HP:0002720HP:0002720Decreased circulating IgA level0TCN2 CL E G H6948859ORPHA129311653613441
HP:0002720HP:0002720Decreased circulating IgA level0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM135111653613441
HP:0002720HP:0002720Decreased circulating IgA level0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM129311653613441
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM132218153604907
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM128418153604907
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0002720HP:0002720Decreased circulating IgA level0UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM119912572191525
HP:0002720HP:0002720Decreased circulating IgA level0UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM117212572191525
HP:0002720HP:0011837Partial IgA deficiency1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0002720HP:0011837Partial IgA deficiency1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0002720HP:0003460Decreased circulating total IgA1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0002720HP:0033024Transient decreased circulating IgA1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1387186608958
HP:0002720HP:0003460Decreased circulating total IgA1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0002720HP:0033024Transient decreased circulating IgA1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM1341186608958
HP:0002720HP:0011837Partial IgA deficiency1AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM119913203605257
HP:0002720HP:0011837Partial IgA deficiency1AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM117813203605257
HP:0002720HP:0003460Decreased circulating total IgA1AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM119913203605257
HP:0002720HP:0033024Transient decreased circulating IgA1AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM119913203605257
HP:0002720HP:0003460Decreased circulating total IgA1AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM117813203605257
HP:0002720HP:0033024Transient decreased circulating IgA1AICDA CL E G H57379605258Immunodeficiency with hyper IgM type 2605258C1720956OMIM117813203605257
HP:0002720HP:0011837Partial IgA deficiency1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0002720HP:0011837Partial IgA deficiency1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0002720HP:0003460Decreased circulating total IgA1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0002720HP:0033024Transient decreased circulating IgA1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0002720HP:0003460Decreased circulating total IgA1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0002720HP:0033024Transient decreased circulating IgA1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0002720HP:0011837Partial IgA deficiency1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM124251058604610
HP:0002720HP:0011837Partial IgA deficiency1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM120481058604610
HP:0002720HP:0003460Decreased circulating total IgA1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM124251058604610
HP:0002720HP:0033024Transient decreased circulating IgA1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM124251058604610
HP:0002720HP:0003460Decreased circulating total IgA1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM120481058604610
HP:0002720HP:0033024Transient decreased circulating IgA1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM120481058604610
HP:0002720HP:0011837Partial IgA deficiency1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002720HP:0011837Partial IgA deficiency1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002720HP:0033024Transient decreased circulating IgA1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002720HP:0003460Decreased circulating total IgA1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0002720HP:0033024Transient decreased circulating IgA1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002720HP:0003460Decreased circulating total IgA1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0002720HP:0011837Partial IgA deficiency1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0002720HP:0011837Partial IgA deficiency1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0002720HP:0003460Decreased circulating total IgA1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0002720HP:0033024Transient decreased circulating IgA1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0002720HP:0003460Decreased circulating total IgA1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0002720HP:0033024Transient decreased circulating IgA1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0002720HP:0011837Partial IgA deficiency1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM110911919109535
HP:0002720HP:0011837Partial IgA deficiency1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM17711919109535
HP:0002720HP:0003460Decreased circulating total IgA1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM110911919109535
HP:0002720HP:0033024Transient decreased circulating IgA1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM110911919109535
HP:0002720HP:0003460Decreased circulating total IgA1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM17711919109535
HP:0002720HP:0033024Transient decreased circulating IgA1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM17711919109535
HP:0002720HP:0011837Partial IgA deficiency1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM132811935300386
HP:0002720HP:0011837Partial IgA deficiency1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM130911935300386
HP:0002720HP:0033024Transient decreased circulating IgA1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM132811935300386
HP:0002720HP:0003460Decreased circulating total IgA1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM132811935300386
HP:0002720HP:0033024Transient decreased circulating IgA1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM130911935300386
HP:0002720HP:0003460Decreased circulating total IgA1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM130911935300386
HP:0002720HP:0011837Partial IgA deficiency1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0002720HP:0011837Partial IgA deficiency1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0002720HP:0033024Transient decreased circulating IgA1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0002720HP:0003460Decreased circulating total IgA1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0002720HP:0033024Transient decreased circulating IgA1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0002720HP:0003460Decreased circulating total IgA1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0002720HP:0011837Partial IgA deficiency1CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM14532336120650
HP:0002720HP:0011837Partial IgA deficiency1CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM13582336120650
HP:0002720HP:0003460Decreased circulating total IgA1CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM14532336120650
HP:0002720HP:0033024Transient decreased circulating IgA1CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM14532336120650
HP:0002720HP:0003460Decreased circulating total IgA1CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM13582336120650
HP:0002720HP:0033024Transient decreased circulating IgA1CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM13582336120650
HP:0002720HP:0011837Partial IgA deficiency1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0002720HP:0011837Partial IgA deficiency1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0002720HP:0003460Decreased circulating total IgA1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0002720HP:0033024Transient decreased circulating IgA1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0002720HP:0033024Transient decreased circulating IgA1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0002720HP:0003460Decreased circulating total IgA1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0002720HP:0011837Partial IgA deficiency1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002720HP:0011837Partial IgA deficiency1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002720HP:0003460Decreased circulating total IgA1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002720HP:0033024Transient decreased circulating IgA1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM14022979602900
HP:0002720HP:0003460Decreased circulating total IgA1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002720HP:0033024Transient decreased circulating IgA1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM13392979602900
HP:0002720HP:0011837Partial IgA deficiency1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0002720HP:0011837Partial IgA deficiency1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0002720HP:0003460Decreased circulating total IgA1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0002720HP:0033024Transient decreased circulating IgA1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0002720HP:0003460Decreased circulating total IgA1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0002720HP:0033024Transient decreased circulating IgA1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0002720HP:0011837Partial IgA deficiency1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0002720HP:0011837Partial IgA deficiency1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0002720HP:0003460Decreased circulating total IgA1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0002720HP:0033024Transient decreased circulating IgA1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0002720HP:0003460Decreased circulating total IgA1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0002720HP:0033024Transient decreased circulating IgA1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0002720HP:0011837Partial IgA deficiency1IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13375961300248
HP:0002720HP:0011837Partial IgA deficiency1IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13265961300248
HP:0002720HP:0003460Decreased circulating total IgA1IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13375961300248
HP:0002720HP:0033024Transient decreased circulating IgA1IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13375961300248
HP:0002720HP:0003460Decreased circulating total IgA1IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13265961300248
HP:0002720HP:0033024Transient decreased circulating IgA1IKBKG CL E G H8517300584Immunodeficiency without anhidrotic ectodermal dysplasia300584C1845117OMIM13265961300248
HP:0002720HP:0011837Partial IgA deficiency1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12436008147730
HP:0002720HP:0011837Partial IgA deficiency1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12106008147730
HP:0002720HP:0003460Decreased circulating total IgA1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12436008147730
HP:0002720HP:0033024Transient decreased circulating IgA1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12436008147730
HP:0002720HP:0003460Decreased circulating total IgA1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12106008147730
HP:0002720HP:0033024Transient decreased circulating IgA1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12106008147730
HP:0002720HP:0011837Partial IgA deficiency1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0002720HP:0011837Partial IgA deficiency1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0002720HP:0003460Decreased circulating total IgA1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0002720HP:0033024Transient decreased circulating IgA1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0002720HP:0003460Decreased circulating total IgA1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0002720HP:0033024Transient decreased circulating IgA1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0002720HP:0011837Partial IgA deficiency1MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM113503942601231
HP:0002720HP:0011837Partial IgA deficiency1MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM111683942601231
HP:0002720HP:0003460Decreased circulating total IgA1MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM113503942601231
HP:0002720HP:0033024Transient decreased circulating IgA1MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM113503942601231
HP:0002720HP:0003460Decreased circulating total IgA1MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM111683942601231
HP:0002720HP:0033024Transient decreased circulating IgA1MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM111683942601231
HP:0002720HP:0011837Partial IgA deficiency1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM18219066600220
HP:0002720HP:0011837Partial IgA deficiency1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM16779066600220
HP:0002720HP:0003460Decreased circulating total IgA1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM18219066600220
HP:0002720HP:0033024Transient decreased circulating IgA1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM18219066600220
HP:0002720HP:0003460Decreased circulating total IgA1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM16779066600220
HP:0002720HP:0033024Transient decreased circulating IgA1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM16779066600220
HP:0002720HP:0011837Partial IgA deficiency1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0002720HP:0011837Partial IgA deficiency1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0002720HP:0033024Transient decreased circulating IgA1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0002720HP:0003460Decreased circulating total IgA1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0002720HP:0033024Transient decreased circulating IgA1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0002720HP:0003460Decreased circulating total IgA1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0002720HP:0011837Partial IgA deficiency1RNF168 CL E G H165918420741ORPHA123226661612688
HP:0002720HP:0011837Partial IgA deficiency1RNF168 CL E G H165918420741ORPHA114726661612688
HP:0002720HP:0003460Decreased circulating total IgA1RNF168 CL E G H165918420741ORPHA123226661612688
HP:0002720HP:0033024Transient decreased circulating IgA1RNF168 CL E G H165918420741ORPHA123226661612688
HP:0002720HP:0003460Decreased circulating total IgA1RNF168 CL E G H165918420741ORPHA114726661612688
HP:0002720HP:0033024Transient decreased circulating IgA1RNF168 CL E G H165918420741ORPHA114726661612688
HP:0002720HP:0011837Partial IgA deficiency1TCN2 CL E G H6948859ORPHA135111653613441
HP:0002720HP:0011837Partial IgA deficiency1TCN2 CL E G H6948859ORPHA129311653613441
HP:0002720HP:0003460Decreased circulating total IgA1TCN2 CL E G H6948859ORPHA135111653613441
HP:0002720HP:0033024Transient decreased circulating IgA1TCN2 CL E G H6948859ORPHA135111653613441
HP:0002720HP:0003460Decreased circulating total IgA1TCN2 CL E G H6948859ORPHA129311653613441
HP:0002720HP:0033024Transient decreased circulating IgA1TCN2 CL E G H6948859ORPHA129311653613441
HP:0002720HP:0011837Partial IgA deficiency1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM135111653613441
HP:0002720HP:0011837Partial IgA deficiency1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM129311653613441
HP:0002720HP:0033024Transient decreased circulating IgA1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM135111653613441
HP:0002720HP:0003460Decreased circulating total IgA1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM135111653613441
HP:0002720HP:0033024Transient decreased circulating IgA1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM129311653613441
HP:0002720HP:0003460Decreased circulating total IgA1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM129311653613441
HP:0002720HP:0011837Partial IgA deficiency1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0002720HP:0011837Partial IgA deficiency1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0002720HP:0003460Decreased circulating total IgA1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0002720HP:0033024Transient decreased circulating IgA1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0002720HP:0003460Decreased circulating total IgA1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0002720HP:0033024Transient decreased circulating IgA1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0002720HP:0011837Partial IgA deficiency1TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM132218153604907
HP:0002720HP:0011837Partial IgA deficiency1TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM128418153604907
HP:0002720HP:0003460Decreased circulating total IgA1TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM132218153604907
HP:0002720HP:0033024Transient decreased circulating IgA1TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM132218153604907
HP:0002720HP:0003460Decreased circulating total IgA1TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM128418153604907
HP:0002720HP:0033024Transient decreased circulating IgA1TNFRSF13B CL E G H23495609529Immunoglobulin A deficiency 2609529C1836032OMIM128418153604907
HP:0002720HP:0011837Partial IgA deficiency1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0002720HP:0011837Partial IgA deficiency1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0002720HP:0003460Decreased circulating total IgA1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0002720HP:0033024Transient decreased circulating IgA1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0002720HP:0003460Decreased circulating total IgA1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0002720HP:0033024Transient decreased circulating IgA1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0002720HP:0011837Partial IgA deficiency1UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM119912572191525
HP:0002720HP:0011837Partial IgA deficiency1UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM117212572191525
HP:0002720HP:0003460Decreased circulating total IgA1UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM119912572191525
HP:0002720HP:0033024Transient decreased circulating IgA1UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM119912572191525
HP:0002720HP:0033024Transient decreased circulating IgA1UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM117212572191525
HP:0002720HP:0003460Decreased circulating total IgA1UNG CL E G H7374608106Immunodeficiency with hyper IgM type 5608106C1720958OMIM117212572191525
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002720HP:0002720Decreased circulating IgA level0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0002720HP:0002720Decreased circulating IgA level0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0002720HP:0002720Decreased circulating IgA level0BLM CL E G H641125ORPHA024251058604610
HP:0002720HP:0002720Decreased circulating IgA level0BLM CL E G H641125ORPHA020481058604610
HP:0002720HP:0002720Decreased circulating IgA level0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0002720HP:0002720Decreased circulating IgA level0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0002720HP:0002720Decreased circulating IgA level0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0002720HP:0002720Decreased circulating IgA level0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0002720HP:0002720Decreased circulating IgA level0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0002720HP:0002720Decreased circulating IgA level0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0002720HP:0002720Decreased circulating IgA level0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0002720HP:0002720Decreased circulating IgA level0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0002720HP:0002720Decreased circulating IgA level0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0002720HP:0011837Partial IgA deficiency1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0002720HP:0011837Partial IgA deficiency1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0002720HP:0033024Transient decreased circulating IgA1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0002720HP:0003460Decreased circulating total IgA1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0002720HP:0033024Transient decreased circulating IgA1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0002720HP:0003460Decreased circulating total IgA1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0002720HP:0011837Partial IgA deficiency1BLM CL E G H641125ORPHA024251058604610
HP:0002720HP:0011837Partial IgA deficiency1BLM CL E G H641125ORPHA020481058604610
HP:0002720HP:0003460Decreased circulating total IgA1BLM CL E G H641125ORPHA024251058604610
HP:0002720HP:0033024Transient decreased circulating IgA1BLM CL E G H641125ORPHA024251058604610
HP:0002720HP:0003460Decreased circulating total IgA1BLM CL E G H641125ORPHA020481058604610
HP:0002720HP:0033024Transient decreased circulating IgA1BLM CL E G H641125ORPHA020481058604610
HP:0002720HP:0011837Partial IgA deficiency1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0002720HP:0011837Partial IgA deficiency1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0002720HP:0003460Decreased circulating total IgA1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0002720HP:0033024Transient decreased circulating IgA1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0002720HP:0003460Decreased circulating total IgA1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0002720HP:0033024Transient decreased circulating IgA1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0002720HP:0011837Partial IgA deficiency1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0002720HP:0011837Partial IgA deficiency1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0002720HP:0003460Decreased circulating total IgA1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0002720HP:0033024Transient decreased circulating IgA1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0002720HP:0003460Decreased circulating total IgA1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0002720HP:0033024Transient decreased circulating IgA1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0002720HP:0011837Partial IgA deficiency1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0002720HP:0011837Partial IgA deficiency1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0002720HP:0003460Decreased circulating total IgA1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0002720HP:0033024Transient decreased circulating IgA1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0002720HP:0003460Decreased circulating total IgA1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0002720HP:0033024Transient decreased circulating IgA1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0002720HP:0033024Transient decreased circulating IgA1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0002720HP:0011837Partial IgA deficiency1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0002720HP:0003460Decreased circulating total IgA1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0002720HP:0011837Partial IgA deficiency1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0002720HP:0011837Partial IgA deficiency1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0002720HP:0033024Transient decreased circulating IgA1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0002720HP:0003460Decreased circulating total IgA1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0002720HP:0003460Decreased circulating total IgA1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0002720HP:0033024Transient decreased circulating IgA1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487


Genes (28) :ADA AGPAT2 AICDA ATM BLM BSCL2 CAV1 CAVIN1 CD19 CD40 CD40LG CR2 CSNK2A1 DNMT3B FOS ICOS IKBKG IL2RA LRBA MTOR PLCG2 PMM2 PPARG RNF168 TCN2 TNFRSF13B TNFRSF13C UNG

Diseases (25) :102700 528 605258 208900 125 210900 613327 240500 606843 308230 614699 617062 242860 607594 300584 606367 614700 616638 614878 212065 420741 859 275350 609529 608106
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.