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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Agammaglobulinemia (HP:0004432)help
Term ID: 4432
Name: Agammaglobulinemia
Synonym: Agammaglobulinaemia
Definition: A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
Comments:
Reference: HP:0004432
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased circulating IgA level (HP:0002720) 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:0004432HP:0004432Agammaglobulinemia0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive.4
HP:0004432HP:0004432Agammaglobulinemia0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0004432HP:0004432Agammaglobulinemia0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0004432HP:0004432Agammaglobulinemia0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0004432HP:0004432Agammaglobulinemia0CARD11 CL E G H8443316393OMIM:615206Card11 immunodeficiency45
HP:0004432HP:0004432Agammaglobulinemia0CD79A CL E G H9731698OMIM:613501Agammaglobulinemia 3, autosomal recessive.9
HP:0004432HP:0004432Agammaglobulinemia0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0004432HP:0004432Agammaglobulinemia0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0004432HP:0004432Agammaglobulinemia0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0004432HP:0004432Agammaglobulinemia0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 3.4
HP:0004432HP:0004432Agammaglobulinemia0CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II.118
HP:0004432HP:0004432Agammaglobulinemia0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0004432HP:0004432Agammaglobulinemia0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4.6
HP:0004432HP:0004432Agammaglobulinemia0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0004432HP:0004432Agammaglobulinemia0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0004432HP:0004432Agammaglobulinemia0IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive.3
HP:0004432HP:0004432Agammaglobulinemia0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0004432HP:0004432Agammaglobulinemia0IKBKB CL E G H35515960OMIM:615592Immunodeficiency 15.4
HP:0004432HP:0004432Agammaglobulinemia0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0004432HP:0004432Agammaglobulinemia0LRRC8A CL E G H5626219027OMIM:613506Agammaglobulinemia 5, autosomal dominant.3
HP:0004432HP:0004432Agammaglobulinemia0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0004432HP:0004432Agammaglobulinemia0PIK3R1 CL E G H52958979OMIM:615214Agammaglobulinemia 7, autosomal recessive.43
HP:0004432HP:0004432Agammaglobulinemia0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0004432HP:0004432Agammaglobulinemia0RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II.38
HP:0004432HP:0004432Agammaglobulinemia0RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II.26
HP:0004432HP:0004432Agammaglobulinemia0RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II.34
HP:0004432HP:0004432Agammaglobulinemia0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0004432HP:0004432Agammaglobulinemia0SLC39A7 CL E G H79224927OMIM:619693AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0004432HP:0004432Agammaglobulinemia0SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0004432HP:0004432Agammaglobulinemia0TCF3 CL E G H692911633OMIM:616941Agammaglobulinemia 8, autosomal dominant2
HP:0004432HP:0004432Agammaglobulinemia0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0004432HP:0004432Agammaglobulinemia0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0004432HP:0004432Agammaglobulinemia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0004432HP:0004432Agammaglobulinemia0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26


Genes (24) :BLNK BTK CARD11 CD79A CD79B CDCA7 CIITA FNIP1 HELLS IGHM IGLL1 IKBKB IL2RG LRRC8A PIK3R1 RFX5 RFXANK RFXAP SH3KBP1 SLC39A7 SPI1 TCF3 TIMM8A TTC7A

Diseases (24) :OMIM:613502 ORPHA:33110 OMIM:300755 ORPHA:47 OMIM:615206 OMIM:613501 OMIM:612692 OMIM:616910 OMIM:209920 OMIM:619705 OMIM:616911 OMIM:601495 OMIM:613500 OMIM:615592 OMIM:300400 OMIM:613506 OMIM:615214 OMIM:300310 OMIM:619693 OMIM:619707 OMIM:616941 OMIM:619824 ORPHA:52368 OMIM:243150
 

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