Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal immunoglobulin level (HP:0010701)help
Parent Node:
expand
Decreased circulating antibody level (HP:0004313)help
..Starting node
..expand
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002720HP:0002720Decreased circulating IgA level0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0002720HP:0002720Decreased circulating IgA level0AICDA CL E G H5737913203OMIM:605258Immunodeficiency with hyper-igm, type 2.58
HP:0002720HP:0002720Decreased circulating IgA level0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0002720HP:0002720Decreased circulating IgA level0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0002720HP:0002720Decreased circulating IgA level0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002720HP:0002720Decreased circulating IgA level0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0002720HP:0002720Decreased circulating IgA level0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0002720HP:0002720Decreased circulating IgA level0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive4
HP:0002720HP:0002720Decreased circulating IgA level0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0002720HP:0002720Decreased circulating IgA level0CARD11 CL E G H8443316393OMIM:616452B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA45
HP:0002720HP:0002720Decreased circulating IgA level0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0002720HP:0002720Decreased circulating IgA level0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0002720HP:0002720Decreased circulating IgA level0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0002720HP:0002720Decreased circulating IgA level0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0002720HP:0002720Decreased circulating IgA level0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0002720HP:0002720Decreased circulating IgA level0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0002720HP:0002720Decreased circulating IgA level0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0002720HP:0002720Decreased circulating IgA level0CD40 CL E G H95811919OMIM:606843Immunodeficiency with hyper-igm, type 3.27
HP:0002720HP:0002720Decreased circulating IgA level0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0002720HP:0002720Decreased circulating IgA level0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive6
HP:0002720HP:0002720Decreased circulating IgA level0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0002720HP:0002720Decreased circulating IgA level0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0002720HP:0002720Decreased circulating IgA level0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0002720HP:0002720Decreased circulating IgA level0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0002720HP:0002720Decreased circulating IgA level0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040282 - Frequent94
HP:0002720HP:0002720Decreased circulating IgA level0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0002720HP:0002720Decreased circulating IgA level0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0002720HP:0002720Decreased circulating IgA level0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0002720HP:0002720Decreased circulating IgA level0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0002720HP:0002720Decreased circulating IgA level0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0002720HP:0002720Decreased circulating IgA level0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0002720HP:0002720Decreased circulating IgA level0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0002720HP:0002720Decreased circulating IgA level0IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive3
HP:0002720HP:0002720Decreased circulating IgA level0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0002720HP:0002720Decreased circulating IgA level0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0002720HP:0002720Decreased circulating IgA level0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040282 - Frequent48
HP:0002720HP:0002720Decreased circulating IgA level0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002720HP:0002720Decreased circulating IgA level0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002720HP:0002720Decreased circulating IgA level0IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0002720HP:0002720Decreased circulating IgA level0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0002720HP:0002720Decreased circulating IgA level0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002720HP:0002720Decreased circulating IgA level0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0002720HP:0002720Decreased circulating IgA level0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0002720HP:0002720Decreased circulating IgA level0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0002720HP:0002720Decreased circulating IgA level0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002720HP:0002720Decreased circulating IgA level0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB37
HP:0002720HP:0002720Decreased circulating IgA level0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040282 - Frequent37
HP:0002720HP:0002720Decreased circulating IgA level0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040284 - Very rare68
HP:0002720HP:0002720Decreased circulating IgA level0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0002720HP:0002720Decreased circulating IgA level0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0002720HP:0002720Decreased circulating IgA level0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0002720HP:0002720Decreased circulating IgA level0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0002720HP:0002720Decreased circulating IgA level0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0002720HP:0002720Decreased circulating IgA level0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0002720HP:0002720Decreased circulating IgA level0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0002720HP:0002720Decreased circulating IgA level0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0002720HP:0002720Decreased circulating IgA level0PLCG2 CL E G H53369066OMIM:614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated.21
HP:0002720HP:0002720Decreased circulating IgA level0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0002720HP:0002720Decreased circulating IgA level0PRIM1 CL E G H55579369OMIM:620005
HP:0002720HP:0002720Decreased circulating IgA level0PTPRC CL E G H57889666OMIM:61992425
HP:0002720HP:0002720Decreased circulating IgA level0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040281 - Very frequent127
HP:0002720HP:0002720Decreased circulating IgA level0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040281 - Very frequent50
HP:0002720HP:0002720Decreased circulating IgA level0REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0002720HP:0002720Decreased circulating IgA level0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040281 - Very frequent7
HP:0002720HP:0002720Decreased circulating IgA level0SASH3 CL E G H5444015975OMIM:3010821
HP:0002720HP:0002720Decreased circulating IgA level0SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002720HP:0002720Decreased circulating IgA level0STAT2 CL E G H677311363OMIM:616636Immunodeficiency 449
HP:0002720HP:0002720Decreased circulating IgA level0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0002720HP:0002720Decreased circulating IgA level0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0002720HP:0002720Decreased circulating IgA level0TCN2 CL E G H694811653ORPHA:859Transcobalamin deficiencyHP:0040282 - Frequent57
HP:0002720HP:0002720Decreased circulating IgA level0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13B CL E G H2349518153OMIM:609529Immunoglobulin A deficiency 2.32
HP:0002720HP:0002720Decreased circulating IgA level0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0002720HP:0002720Decreased circulating IgA level0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002720HP:0002720Decreased circulating IgA level0TYMS CL E G H729812441OMIM:6200401
HP:0002720HP:0002720Decreased circulating IgA level0UNG CL E G H737412572OMIM:608106Immunodeficiency with hyper-igm, type 5.44
HP:0002720HP:0033024Transient decreased circulating IgA1 CL E G H
HP:0002720HP:0003460Decreased circulating total IgA1ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0002720HP:0003460Decreased circulating total IgA1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent8
HP:0002720HP:0003460Decreased circulating total IgA1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent18
HP:0002720HP:0003460Decreased circulating total IgA1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040282 - Frequent24
HP:0002720HP:0003460Decreased circulating total IgA1IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002720HP:0011837Partial IgA deficiency1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0002720HP:0003460Decreased circulating total IgA1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0002720HP:0003460Decreased circulating total IgA1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0002720HP:0003460Decreased circulating total IgA1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821


Genes (68) :ADA AICDA ATM ATP6AP1 BACH2 BLM BLNK BTK CARD11 CASP8 CAVIN1 CD19 CD247 CD3D CD3E CD40 CD40LG CD79B CR2 CSNK2A1 CTLA4 DCLRE1C DNMT3B HLA-DQA1 HLA-DQB1 ICOS IGHG2 IGKC IGLL1 IL2RA IL2RG IL6ST IPO8 IRF2BP2 ITCH IVNS1ABP JAK3 KNSTRN LIG1 LRBA MOGS MTOR NFE2L2 NFKB2 PIGT PIK3CD PIK3CG PIK3R1 PLCG2 PMM2 PRIM1 PTPRC RAG1 RAG2 REL RNF168 SASH3 SPI1 STAT2 SYK TCF3 TCN2 TNFRSF11A TNFRSF13B TNFRSF13C TOM1 TYMS UNG

Diseases (68) :OMIM:102700 OMIM:605258 OMIM:208900 OMIM:300972 OMIM:618394 OMIM:210900 ORPHA:125 OMIM:613502 OMIM:300755 OMIM:616452 OMIM:607271 OMIM:613327 OMIM:240500 OMIM:613493 ORPHA:169160 OMIM:606843 OMIM:308230 OMIM:612692 OMIM:614699 OMIM:617062 OMIM:616100 ORPHA:275 OMIM:242860 OMIM:212750 OMIM:607594 ORPHA:183675 OMIM:613500 OMIM:606367 OMIM:300400 ORPHA:276 OMIM:619752 OMIM:619472 OMIM:617765 OMIM:613385 OMIM:618969 ORPHA:35078 ORPHA:221139 OMIM:619774 OMIM:614700 OMIM:606056 ORPHA:79330 ORPHA:457485 OMIM:616638 OMIM:617744 OMIM:615577 ORPHA:369837 OMIM:619281 OMIM:619802 OMIM:616005 OMIM:614878 OMIM:212065 OMIM:620005 OMIM:619924 ORPHA:331206 OMIM:619652 ORPHA:420741 OMIM:301082 OMIM:619707 OMIM:616636 OMIM:619381 OMIM:619824 ORPHA:859 OMIM:275350 OMIM:612301 OMIM:609529 OMIM:619510 OMIM:620040 OMIM:608106
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.