ORPHA:1930
Herpes simplex virus encephalitis
Synonyms: HSE · HSV encephalitis · HSVE · Herpes simplex meningo-encephalitis · Herpes simplex neuroinvasion · Herpetic encephalitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- All ages
- Status
- active
A rare disorder caused by infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. This disorder often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Herpes simplex virus encephalitis | HSE · HSV encephalitis · HSVE · Herpes simplex meningo-encephalitis · Herpes simplex neuroinvasion · Herpetic encephalitis |
| fr | Encéphalite à herpes simplex | Encéphalite herpétique · Encéphalite à HSV · Méningo-encéphalite à herpes simplex · Neuro-invasion par le virus de l'herpès |
| de | Herpes-simplex-Enzephalitis | HSE · HSV-Enzephalitis · HSVE · Herpes simplex-Meningoenzephalitis · Herpes simplex-Neuroinvasion · Herpesenzephalitis · Herpetische Enzephalitis |
| es | Encefalitis por el virus del herpes simple | Encefalitis herpética · Encefalitis por VHS · Meningoencefalitis por herpes simple · Neuroinvasión por herpes simple |
| it | Encefalite da herpes simplex | Encefalite da HSV · Encefalite erpetica · Meningo-encefalite da herpes simplex · Neuroinvasione da herpes simplex |
| nl | Encefalitis door herpes-simplexvirus | HSE · HSV-encefalitis · HSVE · Herpetische encefalitis · Meningo-encefalitis door herpes-simplexvirus · Neuro-invasie door herpes-simplexvirus |
| pt | Encefalite por virus herpes simplex | Encefalite HSV · Encefalopatia herpética · HSE · HSVE · Meningo-encefalite por herpes simplex |
| pl | Opryszczkowe zapalenie mózgu | Opryszczkowe zapalenie opon mózgowych i mózgu · Zapalenie mózgu HSV |
| cs | Herpetická encefalitida | HSV encefalitida · Herpes simplex meningoencefalitida · Herpes simplex neuroinvaze · Herpes simplex encefalitida |
| uk | Енцефаліт, спиричинений Herpes simplex virus | Простий герпетичний менінгоенцефаліт · Нейроінвазія простого герпесу · Герпетичний енцефаліт · HSE · HSV-енцефаліт · HSVE |
| zh | 单纯疱疹病毒性脑炎 | 单纯疱疹病毒性脑膜脑炎 |
| tr | Herpes simpleks virüs ensefaliti | SEÇ · HSVE · HSV ensefaliti · Herpetik ensefalit · Herpes simpleks nöroinvazyonu · Herpes simpleks meningo-ensefalit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610551 | E | validated | |
| OMIM | 613002 | BTNT | validated | |
| OMIM | 614849 | BTNT | validated | |
| OMIM | 614850 | BTNT | validated | |
| OMIM | 616532 | BTNT | validated | |
| OMIM | 617900 | BTNT | validated | |
| ICD-10 | B00.4+ | E | specific | validated |
| ICD-10 | G05.1* | NTBT | inclusion | validated |
| ICD-11 | 1F00.21 | E | specific | validated |
| MONDO | 0012521 | E | validated | |
| MONDO | 12521 | E | validated | |
| MeSH | D020803 | E | validated | |
| UMLS | C0276226 | E | validated | |
| GARD | 6649 | E | validated | |
| MedDRA | 10019953 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases - ORPHA:98542Infectious disease with dementia
rare neurological diseases - ORPHA:166490Infectious disease with epilepsy
rare neurological diseases - ORPHA:98252Infectious encephalitis
rare neurological diseases; rare infectious diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBK1 | Major susceptibility factor in | Assessed | HGNC:11584 | ENSG00000183735 | 604834 | 12q14.2 | TANK binding kinase 1 | 22851595[PMID] |
| TICAM1 | Major susceptibility factor in | Assessed | HGNC:18348 | ENSG00000127666 | 607601 | 19p13.3 | TIR domain containing adaptor molecule 1 | 22105173[PMID] |
| TLR3 | Major susceptibility factor in | Assessed | HGNC:11849 | ENSG00000164342 | 603029 | 4q35.1 | toll like receptor 3 | 17872438[PMID] |
| TRAF3 | Major susceptibility factor in | Assessed | HGNC:12033 | ENSG00000131323 | 601896 | 14q32.32 | TNF receptor associated factor 3 | 20832341[PMID] |
| UNC93B1 | Major susceptibility factor in | Assessed | HGNC:13481 | ENSG00000110057 | 608204 | 11q13.2 | unc-93B1 regulator of TLR signaling | 16973841[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | Worldwide | Value and class | Validated | 16675036[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | United Kingdom | Value and class | Validated | 20657024[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | United States | Value and class | Validated | 16675036[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
30 annotations · validated 2019-11-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0200149 | CSF lymphocytic pleiocytosis | |
| HP:0002353 | EEG abnormality | |
| HP:0004372 | Reduced consciousness | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0002902 | Hyponatremia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0007185 | Loss of consciousness | |
| HP:0002017 | Nausea and vomiting | |
| HP:0011897 | Neutrophilia | |
| HP:0031179 | Nuchal rigidity | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0030955 | Alcoholism | |
| HP:0002181 | Cerebral edema | |
| HP:0025143 | Chills | |
| HP:0001259 | Coma | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0002349 | Focal aware seizure | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0004302 | Functional motor deficit | |
| HP:0001347 | Hyperreflexia | |
| HP:0011972 | Hypoglycorrhachia | |
| HP:0002721 | Immunodeficiency | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24768322[PMID]_27106239[PMID]_31292686[PMID]_29409994[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1930
- This record as JSON: /data/d/1930.json