Human Phenotype
Ontology
Grandparent Node: Morphological central nervous system abnormality (HP:0002011) Parent Node: Unusual CNS infection (HP:0011450) ..Starting node Infectious encephalitis (HP:0002383)
Term ID: 2383
Name: Infectious encephalitis
Synonym: Brain inflammation
Definition: A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.
Comments:
Reference: HP:0002383
Genes and Diseases: Child Nodes: Sister Nodes: ..Brain abscess (HP:0030049) ..Meningitis (HP:0001287) ..Recurrent meningitis (HP:0006946) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0002383 HP:0002383 Infectious encephalitis 0 ATRX CL E G H 546 886 ORPHA:847 Alpha-thalassemia-X-linked intellectual disability syndrome HP:0040283 - Occasional 169 HP:0002383 HP:0002383 Infectious encephalitis 0 BCL10 CL E G H 8915 989 OMIM:616098 IMMUNODEFICIENCY 37; IMD37 18 HP:0002383 HP:0002383 Infectious encephalitis 0 BTK CL E G H 695 1133 OMIM:300755 Agammaglobulinemia, X-linked 109 HP:0002383 HP:0002383 Infectious encephalitis 0 BTK CL E G H 695 1133 OMIM:307200 Isolated growth hormone deficiency, type III, with agammaglobulinemia 109 HP:0002383 HP:0002383 Infectious encephalitis 0 C4A CL E G H 720 1323 ORPHA:117 Behçet disease HP:0040283 - Occasional 1 HP:0002383 HP:0002383 Infectious encephalitis 0 CCR1 CL E G H 1230 1602 ORPHA:117 Behçet disease HP:0040283 - Occasional HP:0002383 HP:0002383 Infectious encephalitis 0 CD27 CL E G H 939 11922 OMIM:615122 Lymphoproliferative syndrome 2 4 HP:0002383 HP:0002383 Infectious encephalitis 0 CD40LG CL E G H 959 11935 OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM 33 HP:0002383 HP:0002383 Infectious encephalitis 0 CIITA CL E G H 4261 7067 OMIM:209920 Bare lymphocyte syndrome, type II 118 HP:0002383 HP:0002383 Infectious encephalitis 0 CLTRN CL E G H 57393 29437 ORPHA:2116 Hartnup disease HP:0040283 - Occasional HP:0002383 HP:0002383 Infectious encephalitis 0 DBR1 CL E G H 51163 15594 OMIM:619441 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11 HP:0002383 HP:0002383 Infectious encephalitis 0 ERAP1 CL E G H 51752 18173 ORPHA:117 Behçet disease HP:0040283 - Occasional 1 HP:0002383 HP:0002383 Infectious encephalitis 0 FAS CL E G H 355 11920 ORPHA:117 Behçet disease HP:0040283 - Occasional 59 HP:0002383 HP:0002383 Infectious encephalitis 0 HLA-B CL E G H 3106 4932 ORPHA:117 Behçet disease HP:0040283 - Occasional 4 HP:0002383 HP:0002383 Infectious encephalitis 0 HYOU1 CL E G H 10525 16931 OMIM:233600 Immunodeficiency 59 and hypoglycemia HP:0002383 HP:0002383 Infectious encephalitis 0 IFNGR1 CL E G H 3459 5439 ORPHA:117 Behçet disease HP:0040283 - Occasional 60 HP:0002383 HP:0002383 Infectious encephalitis 0 IKBKG CL E G H 8517 5961 ORPHA:464 Incontinentia pigmenti HP:0040283 - Occasional 52 HP:0002383 HP:0002383 Infectious encephalitis 0 IL10 CL E G H 3586 5962 ORPHA:117 Behçet disease HP:0040283 - Occasional 2 HP:0002383 HP:0002383 Infectious encephalitis 0 IL12A CL E G H 3592 5969 ORPHA:117 Behçet disease HP:0040283 - Occasional HP:0002383 HP:0002383 Infectious encephalitis 0 IL12A-AS1 CL E G H 101928376 49094 ORPHA:117 Behçet disease HP:0040283 - Occasional HP:0002383 HP:0002383 Infectious encephalitis 0 IL23R CL E G H 149233 19100 ORPHA:117 Behçet disease HP:0040283 - Occasional 1 HP:0002383 HP:0002383 Infectious encephalitis 0 IRF3 CL E G H 3661 6118 OMIM:616532 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 1 HP:0002383 HP:0002383 Infectious encephalitis 0 IRF4 CL E G H 3662 6119 ORPHA:3452 Whipple disease HP:0040283 - Occasional 1 HP:0002383 HP:0002383 Infectious encephalitis 0 KLRC4 CL E G H 8302 6377 ORPHA:117 Behçet disease HP:0040283 - Occasional HP:0002383 HP:0002383 Infectious encephalitis 0 L2HGDH CL E G H 79944 20499 ORPHA:79314 L-2-hydroxyglutaric aciduria HP:0040281 - Very frequent 34 HP:0002383 HP:0002383 Infectious encephalitis 0 LBR CL E G H 3930 6518 ORPHA:779 Reynolds syndrome HP:0040283 - Occasional 70 HP:0002383 HP:0002383 Infectious encephalitis 0 MEFV CL E G H 4210 6998 ORPHA:117 Behçet disease HP:0040283 - Occasional 281 HP:0002383 HP:0002383 Infectious encephalitis 0 NCKAP1L CL E G H 3071 4862 OMIM:618982 IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 HP:0002383 HP:0002383 Infectious encephalitis 0 PRF1 CL E G H 5551 9360 ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0040283 - Occasional 58 HP:0002383 HP:0002383 Infectious encephalitis 0 PRF1 CL E G H 5551 9360 OMIM:603553 Hemophagocytic lymphohistiocytosis, familial, 2 58 HP:0002383 HP:0002383 Infectious encephalitis 0 RFX5 CL E G H 5993 9986 OMIM:209920 Bare lymphocyte syndrome, type II 38 HP:0002383 HP:0002383 Infectious encephalitis 0 RFXANK CL E G H 8625 9987 OMIM:209920 Bare lymphocyte syndrome, type II 26 HP:0002383 HP:0002383 Infectious encephalitis 0 RFXAP CL E G H 5994 9988 OMIM:209920 Bare lymphocyte syndrome, type II 34 HP:0002383 HP:0002383 Infectious encephalitis 0 SH2D1A CL E G H 4068 10820 OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 37 HP:0002383 HP:0002383 Infectious encephalitis 0 SLC6A19 CL E G H 340024 27960 ORPHA:2116 Hartnup disease HP:0040283 - Occasional 12 HP:0002383 HP:0002383 Infectious encephalitis 0 SNORA31 CL E G H 677814 32621 OMIM:619396 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10 HP:0002383 HP:0002383 Infectious encephalitis 0 STAT1 CL E G H 6772 11362 ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0040283 - Occasional 89 HP:0002383 HP:0002383 Infectious encephalitis 0 STAT1 CL E G H 6772 11362 OMIM:614892 Immunodeficiency 31A 89 HP:0002383 HP:0002383 Infectious encephalitis 0 STAT1 CL E G H 6772 11362 OMIM:613796 Mycobacterial and viral infections, susceptibility to, autosomal recessive 89 HP:0002383 HP:0002383 Infectious encephalitis 0 STAT4 CL E G H 6775 11365 ORPHA:117 Behçet disease HP:0040283 - Occasional 2 HP:0002383 HP:0002383 Infectious encephalitis 0 STX11 CL E G H 8676 11429 ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0040283 - Occasional 85 HP:0002383 HP:0002383 Infectious encephalitis 0 STXBP2 CL E G H 6813 11445 ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0040283 - Occasional 70 HP:0002383 HP:0002383 Infectious encephalitis 0 TBK1 CL E G H 29110 11584 OMIM:617900 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 20 HP:0002383 HP:0002383 Infectious encephalitis 0 TICAM1 CL E G H 148022 18348 OMIM:614850 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 6 HP:0002383 HP:0002383 Infectious encephalitis 0 TLR3 CL E G H 7098 11849 OMIM:613002 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 3 HP:0002383 HP:0002383 Infectious encephalitis 0 TLR4 CL E G H 7099 11850 ORPHA:117 Behçet disease HP:0040283 - Occasional 3 HP:0002383 HP:0002383 Infectious encephalitis 0 TMEM70 CL E G H 54968 26050 ORPHA:1194 TMEM70-related mitochondrial encephalo-cardio-myopathy HP:0040281 - Very frequent 63 HP:0002383 HP:0002383 Infectious encephalitis 0 TOM1 CL E G H 10043 11982 ORPHA:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome HP:0040283 - Occasional HP:0002383 HP:0002383 Infectious encephalitis 0 UBAC2 CL E G H 337867 20486 ORPHA:117 Behçet disease HP:0040283 - Occasional HP:0002383 HP:0002383 Infectious encephalitis 0 UNC13D CL E G H 201294 23147 ORPHA:540 Familial hemophagocytic lymphohistiocytosis HP:0040283 - Occasional 116 HP:0002383 HP:0002383 Infectious encephalitis 0 UNC93B1 CL E G H 81622 13481 OMIM:610551 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1 5 HP:0002383 HP:0002383 Infectious encephalitis 0 XIAP CL E G H 331 592 OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 81 HP:0002383 HP:0034387 Bacterial encephalitis 1 CL E G H HP:0002383 HP:0033993 Viral encephalitis 1 CD27 CL E G H 939 11922 OMIM:615122 Lymphoproliferative syndrome 2 4 HP:0002383 HP:0033993 Viral encephalitis 1 CD40LG CL E G H 959 11935 OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM 33 HP:0002383 HP:0033993 Viral encephalitis 1 DBR1 CL E G H 51163 15594 OMIM:619441 ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11 HP:0002383 HP:0033993 Viral encephalitis 1 HYOU1 CL E G H 10525 16931 OMIM:233600 Immunodeficiency 59 and hypoglycemia HP:0002383 HP:0033993 Viral encephalitis 1 NCKAP1L CL E G H 3071 4862 OMIM:618982 IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 HP:0002383 HP:0033993 Viral encephalitis 1 SNORA31 CL E G H 677814 32621 OMIM:619396 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10 HP:0002383 HP:0033993 Viral encephalitis 1 STAT1 CL E G H 6772 11362 OMIM:614892 Immunodeficiency 31A 89 HP:0002383 HP:0033993 Viral encephalitis 1 STAT1 CL E G H 6772 11362 OMIM:613796 Mycobacterial and viral infections, susceptibility to, autosomal recessive 89 HP:0002383 HP:0033993 Viral encephalitis 1 TBK1 CL E G H 29110 11584 OMIM:617900 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 20 HP:0002383 HP:0033993 Viral encephalitis 1 TICAM1 CL E G H 148022 18348 OMIM:614850 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 6 HP:0002383 HP:0033993 Viral encephalitis 1 TLR3 CL E G H 7098 11849 OMIM:613002 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 3 HP:0002383 HP:0033993 Viral encephalitis 1 UNC93B1 CL E G H 81622 13481 OMIM:610551 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1 5 HP:0002383 HP:0033509 EBV encephalitis 2 CD27 CL E G H 939 11922 OMIM:615122 Lymphoproliferative syndrome 2 4 HP:0002383 HP:0034285 Enteroviral encephalitis 2 CD40LG CL E G H 959 11935 OMIM:308230 Immunodeficiency, X-linked, with hyper-IgM 33 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 HYOU1 CL E G H 10525 16931 OMIM:233600 Immunodeficiency 59 and hypoglycemia HP:0002383 HP:0012302 Herpes simplex encephalitis 2 NCKAP1L CL E G H 3071 4862 OMIM:618982 IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 SNORA31 CL E G H 677814 32621 OMIM:619396 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10; IIAE10 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 STAT1 CL E G H 6772 11362 OMIM:614892 Immunodeficiency 31A . 89 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 STAT1 CL E G H 6772 11362 OMIM:613796 Mycobacterial and viral infections, susceptibility to, autosomal recessive . 89 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 TBK1 CL E G H 29110 11584 OMIM:617900 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 . 20 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 TICAM1 CL E G H 148022 18348 OMIM:614850 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 . 6 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 TLR3 CL E G H 7098 11849 OMIM:613002 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2 . 3 HP:0002383 HP:0012302 Herpes simplex encephalitis 2 UNC93B1 CL E G H 81622 13481 OMIM:610551 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1 5
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
