Human Phenotype Ontology 
Grandparent Node:
expandAbnormal immunoglobulin level (HP:0010701)help
Parent Node:
expandDecreased circulating antibody level (HP:0004313)help
..Starting node
..expandDecreased circulating total IgM (HP:0002850)help
Term ID: 2850
Name: Decreased circulating total IgM
Synonym: Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels
Definition: An abnormally decreased level of immunoglobulin M (IgM) in blood.
Comments:
Reference: HP:0002850
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAgammaglobulinemia (HP:0004432) help
..expandDecreased circulating IgA level (HP:0002720) help
..expandDecreased circulating IgE (HP:0005479) help
..expandDecreased circulating IgG level (HP:0004315) 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:0002850HP:0002850Decreased circulating total IgM0ADA 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:0002850HP:0002850Decreased circulating total IgM0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0002850HP:0002850Decreased circulating total IgM0ARHGEF1 CL E G H9138681OMIM:618459Immunodeficiency 62
HP:0002850HP:0002850Decreased circulating total IgM0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0002850HP:0002850Decreased circulating total IgM0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002850HP:0002850Decreased circulating total IgM0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0002850HP:0002850Decreased circulating total IgM0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0002850HP:0002850Decreased circulating total IgM0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive4
HP:0002850HP:0002850Decreased circulating total IgM0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0002850HP:0002850Decreased circulating total IgM0CARD11 CL E G H8443316393OMIM:616452B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA45
HP:0002850HP:0002850Decreased circulating total IgM0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0002850HP:0002850Decreased circulating total IgM0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0002850HP:0002850Decreased circulating total IgM0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0002850HP:0002850Decreased circulating total IgM0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive6
HP:0002850HP:0002850Decreased circulating total IgM0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0002850HP:0002850Decreased circulating total IgM0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0002850HP:0002850Decreased circulating total IgM0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0002850HP:0002850Decreased circulating total IgM0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0002850HP:0002850Decreased circulating total IgM0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0002850HP:0002850Decreased circulating total IgM0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0002850HP:0002850Decreased circulating total IgM0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0002850HP:0002850Decreased circulating total IgM0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0002850HP:0002850Decreased circulating total IgM0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0002850HP:0002850Decreased circulating total IgM0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0002850HP:0002850Decreased circulating total IgM0IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive3
HP:0002850HP:0002850Decreased circulating total IgM0IKBKG CL E G H85175961OMIM:30108152
HP:0002850HP:0002850Decreased circulating total IgM0IKBKG CL E G H85175961OMIM:300636Immunodeficiency 3352
HP:0002850HP:0002850Decreased circulating total IgM0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0002850HP:0002850Decreased circulating total IgM0IL6R CL E G H35706019OMIM:618944HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES51
HP:0002850HP:0002850Decreased circulating total IgM0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002850HP:0002850Decreased circulating total IgM0IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0002850HP:0002850Decreased circulating total IgM0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0002850HP:0002850Decreased circulating total IgM0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0002850HP:0002850Decreased circulating total IgM0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0002850HP:0002850Decreased circulating total IgM0LAMTOR2 CL E G H2895629796OMIM:610798Immunodeficiency due to defect in mapbp-interacting protein.1
HP:0002850HP:0002850Decreased circulating total IgM0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0002850HP:0002850Decreased circulating total IgM0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002850HP:0002850Decreased circulating total IgM0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040282 - Frequent37
HP:0002850HP:0002850Decreased circulating total IgM0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0002850HP:0002850Decreased circulating total IgM0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0002850HP:0002850Decreased circulating total IgM0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0002850HP:0002850Decreased circulating total IgM0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0002850HP:0002850Decreased circulating total IgM0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0002850HP:0002850Decreased circulating total IgM0PLCG2 CL E G H53369066OMIM:614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated.21
HP:0002850HP:0002850Decreased circulating total IgM0POLE CL E G H54269177OMIM:615139Facial dysmorphism, immunodeficiency, livedo, and short stature1129
HP:0002850HP:0002850Decreased circulating total IgM0PRIM1 CL E G H55579369OMIM:620005
HP:0002850HP:0002850Decreased circulating total IgM0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0002850HP:0002850Decreased circulating total IgM0PTPRC CL E G H57889666OMIM:61992425
HP:0002850HP:0002850Decreased circulating total IgM0RAC2 CL E G H58809802OMIM:618987IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C9
HP:0002850HP:0002850Decreased circulating total IgM0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040281 - Very frequent127
HP:0002850HP:0002850Decreased circulating total IgM0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040281 - Very frequent50
HP:0002850HP:0002850Decreased circulating total IgM0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0002850HP:0002850Decreased circulating total IgM0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0002850HP:0002850Decreased circulating total IgM0SASH3 CL E G H5444015975OMIM:3010821
HP:0002850HP:0002850Decreased circulating total IgM0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002850HP:0002850Decreased circulating total IgM0SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0002850HP:0002850Decreased circulating total IgM0STAT2 CL E G H677311363OMIM:616636Immunodeficiency 449
HP:0002850HP:0002850Decreased circulating total IgM0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0002850HP:0002850Decreased circulating total IgM0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0002850HP:0002850Decreased circulating total IgM0TCN2 CL E G H694811653ORPHA:859Transcobalamin deficiencyHP:0040282 - Frequent57
HP:0002850HP:0002850Decreased circulating total IgM0TCN2 CL E G H694811653OMIM:275350Transcobalamin II deficiency.57
HP:0002850HP:0002850Decreased circulating total IgM0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0002850HP:0002850Decreased circulating total IgM0TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0002850HP:0002850Decreased circulating total IgM0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002850HP:0002850Decreased circulating total IgM0TYMS CL E G H729812441OMIM:6200401
HP:0002850HP:0002850Decreased circulating total IgM0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65


Genes (62) :ADA ADA2 ARHGEF1 ATP6AP1 BACH2 BLM BLNK BTK CARD11 CASP10 CASP8 CD19 CD79B CNBP CTLA4 DOCK8 EXTL3 FAS FASLG FNIP1 ICOS IGHG2 IGKC IGLL1 IKBKG IL2RG IL6R IL6ST IRF2BP2 IVNS1ABP JAK3 KNSTRN LAMTOR2 LIG1 LRBA MOGS NFKB2 PIGT PIK3CD PIK3CG PLCG2 POLE PRIM1 PRKCD PTPRC RAC2 RAG1 RAG2 RASGRP1 RNF168 SASH3 SIK3 SPI1 STAT2 SYK TCF3 TCN2 TNFRSF11A TNFRSF13C TOM1 TYMS WAS

Diseases (59) :OMIM:102700 OMIM:182410 OMIM:618459 OMIM:300972 OMIM:618394 ORPHA:125 OMIM:210900 OMIM:613502 OMIM:300755 OMIM:616452 ORPHA:3261 OMIM:607271 OMIM:613493 OMIM:612692 OMIM:602668 OMIM:616100 OMIM:243700 ORPHA:508533 OMIM:619705 OMIM:607594 ORPHA:183675 OMIM:613500 OMIM:301081 OMIM:300636 OMIM:300400 OMIM:618944 OMIM:619752 OMIM:617765 OMIM:618969 ORPHA:35078 ORPHA:221139 OMIM:610798 OMIM:619774 OMIM:614700 ORPHA:79330 OMIM:615577 ORPHA:369837 OMIM:619281 OMIM:619802 OMIM:614878 OMIM:615139 OMIM:620005 OMIM:619924 OMIM:618987 ORPHA:331206 ORPHA:420741 OMIM:301082 OMIM:618162 OMIM:619707 OMIM:616636 OMIM:619381 OMIM:619824 ORPHA:859 OMIM:275350 OMIM:612301 OMIM:613494 OMIM:619510 OMIM:620040 OMIM:301000
 

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