Photoparoxysmal response 1

Preferred Label : Photoparoxysmal response 1;

Symbol : PPR1;

CISMeF acronym : PPR1; PPR;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : PPR; PHOTOSENSITIVITY; Epilepsy, photogenic; Photoconvulsive reaction;

Description : The photoparoxysmal response (PPR), also referred to as photosensitivity, is defined as the abnormal occurrence of cortical spikes or spike and wave discharges on electroencephalogram (EEG) in response to intermittent light stimulation (Doose and Waltz, 1993). Photosensitivity is a frequent finding in patients with idiopathic generalized epilepsy (see 600669), especially those with juvenile myoclonic epilepsy, suggesting a common epileptogenic pathway for both phenomena. The comorbidity of the 2 disorders suggests that presence of PPR may also increase the risk for epilepsy (Stephani et al., 2004; Tauer et al., 2005). - Genetic Heterogeneity of Photoparoxysmal Response The PPR1 locus has been mapped to chromosome 6p21. See also PPR2 (609572), mapped to chromosome 13q31, and PPR3 (609573), mapped to chromosome 7q32.;

Inheritance : Autosomal dominant;

Prefixed ID : %132100;

Details

Origin ID

132100;

UMLS CUI

C1868677;

Automatic exact mappings (from CISMeF team)
- ACKR4 wt Allele [NCIt concept]
- Abnormal sensitivity to light or UV radiation of uncertain or unspecified nature [ICD-11 Subcategory]
- Atypical Chemokine Receptor 4 [NCIt concept]
- Photosensitivity [PASCAL descriptor]
- Photosensitivity, CTCAE [NCIt concept]
- Photosensitized [MedDRA LLT]
- Photosensitizing Agent [NCIt concept]
- Polymyalgia Rheumatica [NCIt concept]
- atypical chemokine receptor 4 [HGNC gene]
- epilepsy, reflex [MeSH Descriptor]
- percent platelet recovery [Blood Transfusion thesaurus concept]
- photosensitivity disorders [MeSH Descriptor]
- photosensitization [IUPAC Term]
- photosensitization [MeSH concept]
- photosensitizer [IUPAC Term]
- photosensitizing agents [MeSH Descriptor]
- phototoxic dermatitis [DO Concept]
Currated CISMeF NLP mapping
- EEG with photoparoxysmal response [HPO term]
- Photogenic epilepsy (disorder) [SNOMED CT concept]
- Photoparoxysmal response on EEG [HPO term]
- Photosensitive epilepsy [ORDO Disease]
- photogenic epilepsy [SNOMED Notion]
- photosensitive epilepsy [DO Concept]
DO Cross reference
- photosensitive epilepsy [DO Concept]
False automatic mappings
- Cutaneous photosensitivity [HPO term]
- Peste des petits ruminants (disorder) [Inactive SNOMED CT concept]
- Photosensitivity [MedDRA LLT]
- Photosensitivity (finding) [SNOMED CT concept]
- Skin Photosensitivity [NCIt concept]
- photosensitivity [SNOMED Notion]
- pseudopolyarthritis, rhizomelic [MeSH concept]
HPO term(s)
- Age-dependent penetrance [HPO term]
- Autosomal dominant inheritance [HPO term]
- EEG with photoparoxysmal response [HPO term]
- Epilepsy [HPO term]
- Heterogeneous [HPO term]
ORDO concept(s)
- Photosensitive epilepsy [ORDO Disease]
See also inter- (CISMeF)
- photosensitive epilepsy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Photoparoxysmal response on EEG [HPO term]

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