Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal circulating protein concentration (HP:0010876)help
..Starting node
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Elevated circulating C-reactive protein concentration (HP:0011227)help
Term ID: 11227
Name: Elevated circulating C-reactive protein concentration
Synonym: Elevated C-reactive protein level; Elevated CRP
Definition: An abnormal elevation of the C-reactive protein level in the blood circulation.
Comments:
Reference: HP:0011227
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal B-type natriuretic peptide level (HP:0031138) help
..expandAbnormal circulating albumin concentration (HP:0012116) help
..expandAbnormal circulating apolipoprotein concentration (HP:0025201) help
..expandAbnormal circulating beta globulin level (HP:0025465) help
..expandAbnormal circulating beta-C-terminal telopeptide concentration (HP:0031424) help
..expandAbnormal circulating thyroglobulin level (HP:0025483) help
..expandAbnormal hepcidin level (HP:0031875) help
..expandAbnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034) help
..expandAbnormal levels of alpha-fetoprotein (HP:0045056) help
..expandAbnormal retinol-binding protein level (HP:0031031) help
..expandAbnormality of circulating enzyme level (HP:0011021) help
..expandAbnormality of the kinin-kallikrein system (HP:0005559) help
..expandDecreased prealbumin level (HP:0031085) help
..expandElevated carcinoembryonic antigen level (HP:0031029) help
..expandElevated carcinoma antigen 125 level (HP:0031030) help
..expandElevated prostate-specific antigen level (HP:0025020) help
..expandHyperpepsinogenemia I (HP:0003238) help
..expandHyperproteinemia (HP:0002152) help
..expandHypoproteinemia (HP:0003075) help
..expandIncreased circulating thyroxine-binding globulin level (HP:0031222) help
..expandReduced growth-hormone binding protein level (HP:0031036) help
..expandReduced insulin-like factor 3 level (HP:0031037) help
..expandReduced sex -hormone binding protein level (HP:0031419) help
..expandReduced thyroxin-binding globulin (HP:0012509) 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:0011227HP:0011227Elevated circulating C-reactive protein concentration0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CASR CL E G H8461514ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent272
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CD244 CL E G H5174418171OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CFTR CL E G H10801884ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent1371
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CIITA CL E G H42617067OMIM:180300RHEUMATOID ARTHRITIS; RA118
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0COPA CL E G H13142230OMIM:616414AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK5
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CPA1 CL E G H13572296ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent5
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0CTRC CL E G H113302523ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent39
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0IL10 CL E G H35865962OMIM:180300RHEUMATOID ARTHRITIS; RA2
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0IL37 CL E G H2717815563OMIM:619398INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent2
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0MEFV CL E G H42106998OMIM:608068NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE281
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040282 - Frequent281
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040281 - Very frequent1
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NFKBIL1 CL E G H47957800OMIM:180300RHEUMATOID ARTHRITIS; RA1
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0POMP CL E G H5137120330OMIM:618048Proteasome-Associated autoinflammatory syndrome 22
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PRSS1 CL E G H56449475ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent51
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PRSS2 CL E G H56459483ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent1
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0PTPN22 CL E G H261919652OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0SLC22A4 CL E G H658310968OMIM:180300RHEUMATOID ARTHRITIS; RA3
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0SPINK1 CL E G H669011244ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent34
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional20
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional6
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional3
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040281 - Very frequent131
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional2
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional5
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0011227HP:0011227Elevated circulating C-reactive protein concentration0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91


Genes (58) :ADA2 ARPC1B C2ORF69 CARD10 CASR CD244 CFTR CIITA COPA CPA1 CTLA4 CTRC DEF6 ELF4 HLA-DPA1 HLA-DPB1 HLA-DRB1 HMOX1 IL10 IL1RN IL36RN IL37 IL6 IL6ST ITGB2 ITK LACC1 MEFV MIF MVK NFKBIL1 NLRC4 NLRP1 NLRP12 NLRP3 OTULIN POMP PRKCD PRSS1 PRSS2 PRTN3 PSMB8 PSTPIP1 PTPN22 SH2D1A SLC22A4 SPINK1 STING1 SYK TBK1 TICAM1 TLR3 TNFRSF1A TRAF3 UBA1 UNC93B1 XIAP ZNFX1

Diseases (41) :OMIM:615688 OMIM:617718 OMIM:619423 OMIM:619632 ORPHA:676 OMIM:180300 OMIM:616414 ORPHA:900 OMIM:619573 OMIM:301074 ORPHA:85414 OMIM:614034 OMIM:612852 OMIM:614204 OMIM:619398 OMIM:619750 OMIM:116920 OMIM:613011 OMIM:249100 OMIM:608068 ORPHA:3243 OMIM:610377 OMIM:616050 OMIM:617388 OMIM:611762 ORPHA:1451 OMIM:607115 OMIM:120100 OMIM:191900 OMIM:617099 OMIM:618048 OMIM:615559 OMIM:256040 OMIM:604416 OMIM:308240 OMIM:615934 OMIM:619381 ORPHA:1930 ORPHA:32960 OMIM:301054 OMIM:619644
 

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