PPR1
MCID: PHT010
MIFTS: 46

Photoparoxysmal Response 1 (PPR1)

Categories: Skin diseases

Aliases & Classifications for Photoparoxysmal Response 1

MalaCards integrated aliases for Photoparoxysmal Response 1:

Name: Photoparoxysmal Response 1 57 13 70
Photosensitivity Disease 12 15 17
Photosensitivity Disorders 44 70
Photosensitivity 57 6
Photoconvulsive Reaction 57
Photosensitivity of Skin 70
Dermatitis, Phototoxic 70
Epilepsy, Photogenic 57
Photodermatitis 12
Ppr1 57
Ppr 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
age-dependent penetrance
occurs most often between 5 and 15 years of age
associated with idiopathic generalized epilepsy (ige, )
associated with myoclonic epilepsy
genetic heterogeneity (see ppr2, )

Inheritance:
autosomal dominant


HPO:

31
photoparoxysmal response 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course age-dependent penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:3159
OMIM® 57 132100
OMIM Phenotypic Series 57 PS132100
MeSH 44 D010787
SNOMED-CT 67 22649008
MedGen 41 C1868677
SNOMED-CT via HPO 68 263681008
UMLS 70 C0031762 C0162830 C0349506 more

Summaries for Photoparoxysmal Response 1

OMIM® : 57 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). (132100) (Updated 20-May-2021)

MalaCards based summary : Photoparoxysmal Response 1, also known as photosensitivity disease, is related to porphyria, congenital erythropoietic and trichothiodystrophy, and has symptoms including photophobia, pruritus and exanthema. An important gene associated with Photoparoxysmal Response 1 is ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Biosynthesis of cofactors. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related phenotypes are eeg with photoparoxysmal response and homeostasis/metabolism

Related Diseases for Photoparoxysmal Response 1

Diseases in the Photoparoxysmal Response 1 family:

Photoparoxysmal Response 2 Photoparoxysmal Response 3

Diseases related to Photoparoxysmal Response 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 421)
# Related Disease Score Top Affiliating Genes
1 porphyria, congenital erythropoietic 32.1 UROD FECH
2 trichothiodystrophy 31.9 XPA ERCC6 ERCC1
3 cerebrooculofacioskeletal syndrome 1 31.9 ERCC6 ERCC1
4 uv-sensitive syndrome 31.9 XPA ERCC6 ERCC1
5 coproporphyria, hereditary 31.8 UROD PPOX FECH
6 protoporphyria, erythropoietic, 1 31.8 UROD PPOX FECH
7 cockayne syndrome a 31.7 XPA ERCC6 ERCC1
8 xeroderma pigmentosum, complementation group f 31.7 XPA ERCC6 ERCC1
9 cutaneous porphyria 31.6 UROD PPOX FECH
10 variegate porphyria 31.6 UROD PPOX FECH
11 xeroderma pigmentosum, complementation group d 31.5 XPA ERCC6 ERCC1
12 cockayne syndrome b 31.4 ERCC6 ERCC1
13 porphyria cutanea tarda 30.7 UROD PPOX FECH
14 porphyria 30.6 UROD TDO2 PPOX FECH
15 phototoxic dermatitis 29.9 TRIM21 PPOX
16 acute porphyria 29.8 UROD PPOX FECH
17 xeroderma pigmentosum group e 29.8 XPA ERCC6 ERCC1
18 xeroderma pigmentosum, complementation group a 29.7 XPA ERCC6 ERCC1
19 cutaneous photosensitivity and colitis, lethal 11.5
20 photosensitive epilepsy 11.3
21 hair defect-photosensitivity-intellectual disability syndrome 11.3
22 chronic actinic dermatitis 11.2
23 ataxia-telangiectasia-like disorder 2 11.2
24 xeroderma pigmentosum, variant type 11.2
25 cockayne syndrome 11.2
26 kindler syndrome 11.2
27 epilepsy, photogenic, with spastic diplegia and mental retardation 11.1
28 trichothiodystrophy 1, photosensitive 11.0
29 protoporphyria, erythropoietic, x-linked 11.0
30 trichothiodystrophy 4, nonphotosensitive 11.0
31 uv-sensitive syndrome 1 11.0
32 uv-sensitive syndrome 2 11.0
33 uv-sensitive syndrome 3 11.0
34 undifferentiated connective tissue disease 11.0
35 hair defect with photosensitivity and mental retardation 10.9
36 genetic photodermatosis 10.9
37 ataxia-photosensitivity-short stature syndrome 10.9
38 rare photodermatosis 10.9
39 actinic prurigo 10.9
40 dermatomyositis 10.9
41 jeavons syndrome 10.8
42 corneal dystrophy, lattice type i 10.8
43 prolidase deficiency 10.8
44 hartnup disorder 10.8
45 trichothiodystrophy 5, nonphotosensitive 10.8
46 epilepsy, familial adult myoclonic, 2 10.8
47 trichothiodystrophy 6, nonphotosensitive 10.8
48 protoporphyria, erythropoietic, 2 10.8
49 trichothiodystrophy 7, nonphotosensitive 10.8
50 cockayne syndrome type iii 10.8

Graphical network of the top 20 diseases related to Photoparoxysmal Response 1:



Diseases related to Photoparoxysmal Response 1

Symptoms & Phenotypes for Photoparoxysmal Response 1

Human phenotypes related to Photoparoxysmal Response 1:

31
# Description HPO Frequency HPO Source Accession
1 eeg with photoparoxysmal response 31 HP:0010852

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
abnormal visual sensitivity of the brain in reaction to intermittent photic stimulation
abnormal cortical eeg discharges triggered by intermittent light
type i eeg response is occipital spikes
type ii eeg response is parietooccipital spikes followed by biphasic slow waves
type iii eeg response is parietooccipital spikes followed by biphasic slow waves and spreading to the frontal region
more

Clinical features from OMIM®:

132100 (Updated 20-May-2021)

UMLS symptoms related to Photoparoxysmal Response 1:


photophobia; pruritus; exanthema

MGI Mouse Phenotypes related to Photoparoxysmal Response 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 CARMIL2 CD4 DCUN1D3 ERCC1 ERCC6 FECH
2 integument MP:0010771 9.36 CARMIL2 CD4 ERCC1 ERCC6 FECH FERMT1

Drugs & Therapeutics for Photoparoxysmal Response 1

Drugs for Photoparoxysmal Response 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 169)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
4
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
5
Ethanol Approved Phase 4 64-17-5 702
6
Fluorouracil Approved Phase 4 51-21-8 3385
7
Phenothiazine Experimental, Vet_approved Phase 4 92-84-2
8 Epinephryl borate Phase 4
9 Antirheumatic Agents Phase 4
10 Cyclooxygenase Inhibitors Phase 4
11 Analgesics Phase 4
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4
13 Analgesics, Non-Narcotic Phase 4
14 Psychotropic Drugs Phase 4
15 Anticonvulsants Phase 4
16 Antimetabolites Phase 4
17
Trioxsalen Approved Phase 3 3902-71-4 5585
18
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
19
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
20
Butenafine Approved Phase 3 101828-21-1 2484
21
Levetiracetam Approved Phase 2, Phase 3 102767-28-2 441341
22
Brivaracetam Approved, Investigational Phase 2, Phase 3 357336-20-0 9837243
23
Fenfluramine Approved, Illicit, Investigational, Withdrawn Phase 3 458-24-2 3337
24 Dihematoporphyrin Ether Phase 3
25 Hematoporphyrin Derivative Phase 3
26 Ether Phase 3
27 Hematoporphyrins Phase 3
28 Antifungal Agents Phase 3
29 Neurotransmitter Agents Phase 3
30 Serotonin Uptake Inhibitors Phase 3
31 Sunflower Phase 3
32
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
33
Papain Approved Phase 2 9001-73-4
34
Mepivacaine Approved, Vet_approved Phase 2 96-88-8 4062
35
Norepinephrine Approved Phase 2 51-41-2 439260
36
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
37
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
38
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
39
Lorazepam Approved Phase 2 846-49-1 3958
40
Aminolevulinic acid Approved Phase 2 106-60-5 137
41
Fluoxymesterone Approved, Illicit Phase 1, Phase 2 76-43-7 6446
42
nivolumab Approved Phase 2 946414-94-4
43
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
44
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
45
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
46
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
47
Melatonin Approved, Nutraceutical, Vet_approved Phase 2 73-31-4 896
48 Anesthetics Phase 2
49 Anti-Infective Agents Phase 2
50 Photosensitizing Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 110)
# Name Status NCT ID Phase Drugs
1 Clinical, Microbiological and Biochemical Effects of the Antimicrobial Photodynamic Therapy Unknown status NCT01532674 Phase 4
2 Comparison of the Efficacy and Tolerability of Solaraze for 3 vs. 6 Months in Patients With Mild to Moderate Actinic Keratosis Located at the Face and Head Completed NCT00204542 Phase 4 Diclofenac;Diclofenac
3 Photosensitivity of the Skin Under Azathioprin in Renal Transplant Recipients Completed NCT00492895 Phase 4 Discontinuation of Azathioprin
4 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
5 Daylight Mediated Photodynamic Therapy for Actinic Keratoses: a Multicentre Study Comparing Two Photosensitizers (BF-200 ALA Versus MAL) Completed NCT02464709 Phase 4 Aminolevulinic Acid;Methyl 5-aminolevulinate
6 Treatment of AKs With Daylight-PDT: Comparing Two Photosensitizers (BF-200 ALA and MAL) Completed NCT01893203 Phase 4 BF-200 ALA cream;MAL cream
7 Evaluation of Antimicrobial Photodynamic Therapy in Multiple Applications as a Coadjuvant in the Surgical Therapy of Access to Scaling in Patients With Advanced Chronic Periodontitis Completed NCT03498404 Phase 4
8 Conventional Microneedling Compared to Microneedling Associated With 5-FU Infusion (Microinfusion of Medication Into the Skin - MMP) for Idiopathic Guttate Hypomelanosis (IGH) Repigmentation Recruiting NCT02904564 Phase 4 MMP with 5-FU;MMP with Saline infusion
9 Two-arm Phase III Trial Comparing Different Time of Endoscopic Photodynamic Therapy on Esophageal and/or Gastric Cardiac Cancer Unknown status NCT02628665 Phase 3 photosensitizer(photofrin)
10 HT201308- Human Phototoxicity Test Completed NCT04531527 Phase 3 Butenafine HCl 1% (BAY1896425)
11 Efficacy and Safety of Metvix® Natural Daylight Photodynamic Therapy Versus Conventional Metvix® Photodynamic Therapy in Subject With Mild Actinic Keratoses Completed NCT02373371 Phase 3 Metvix®
12 Does BRV Have a Faster Onset Time and Greater Effect Than LEV in Epilepsy Patients?: A Prospective, Randomized, Crossover, Double-blind, Controlled Intravenous Study Using the PPR as a Pharmacodynamic Efficacy Endpoint Completed NCT03580707 Phase 2, Phase 3 BRV vs LEV in randomized double blinded, crossover fashion
13 Laser Therapy Associated With Photodynamic Therapy in the Treatment of Oral Mucositis Induced by Chemotherapy in Young Patients: Randomized Blind Clinical Trial Completed NCT02555501 Phase 3
14 An Open-Label Treatment of ZX008 (Fenfluramine Hydrochloride) in Pediatric and Adult Epilepsy Patients (Ages 4-25) With Sunflower Syndrome. Active, not recruiting NCT03790137 Phase 3 Fenfluramine Hydrochloride
15 Photodynamic Therapy for Palliation of Unresectable Cholangiocarcinoma A Multicenter, Open Label, Randomized, Controlled Phase III Trial Terminated NCT00907413 Phase 3
16 Effect of Photodymamic Therapy With Urucum and LED in the Reduction of Halitosis: a Clinical and Microbiological Trial Unknown status NCT03346460 Phase 2
17 Photodynamic Therapy Using a Novel Photosensitizer in Locally Advanced Hilar Cholangiocarcinoma Unknown status NCT02725073 Phase 2
18 Antimicrobial Photodynamic Therapy Mediated by Papain Gel on Peri-implantitis Lesions: A Randomized Controlled Clinical Trial Unknown status NCT03753958 Phase 2
19 Antimicrobial Photodynamic Therapy Mediated by PapaMBlue® on Chronic Periodontal Disease - Randomized Blind Controlled Trial Unknown status NCT03855345 Phase 2
20 A Phase II Study of Axitinib in Metastatic Non-clear Cell Renal Cell Carcinoma Patients Previously Treated With Temsirolimus Completed NCT01798446 Phase 2 Axitinib
21 Assessment of Marketed AEDs in the Human Photosensitivity Proof of Concept Trial Completed NCT00894010 Phase 2 carbamazepine 400mg;levetiracetam 1000mg
22 A Double Blind, Randomized, Cross- Over Study Examining Efficacy Of Pf-06372865 In A Photosensitivity Epilepsy Study Using Lorazepam As A Positive Control Completed NCT02564029 Phase 2 PF-06372865;Placebo;Lorazepam
23 A Study of the Effects of JNJ-26489112 on the Photic Induced Paroxysmal Electroencephalogram Response in Patients With Photosensitive Epilepsy Completed NCT00579384 Phase 2 JNJ-26489112;Placebo
24 A Multicenter, Single-blind, Within-subject, Placebo-controlled Proof of Concept Study to Assess the Effect of Single Oral Doses of BGG492 on the Photoparoxysmal EEG Response in Patients With Photosensitive Epilepsy Completed NCT00784212 Phase 2 BGG492;BGG492;Placebo
25 A Phase 2a, Multi-center, Single-blind, Within-subject, Placebo-controlled Study to Assess the Pharmacodynamics of ACT-709478 in Subjects With Photosensitive Epilepsy Completed NCT03239691 Phase 2 ACT-709478 for oral use;Placebo
26 A Placebo-controlled, Single-blind, Multi-center Study to Explore the Photoparoxysmal Response in Photosensitive Epileptic Subjects After One Single Oral Dose of Brivaracetam in Capsules. Completed NCT00401648 Phase 2 Brivaracetam
27 Daylight-mediated Photodynamic Therapy of Actinic Keratoses: a Randomized, Double-blinded Pilot Study Comparing Topical 0.2% Hexylaminolaevulinate With 16% Methylaminolaevulinate Completed NCT02149342 Phase 1, Phase 2 Hexylaminolaevulinate cream;Methylaminolaevulinate cream
28 Application Success of Photodynamic Therapy and Diode Laser During Endodontic Therapy of Young Permanent Teeth Completed NCT03074136 Phase 2 0.5% Sodium hypochlorite
29 Clinical Effects of a Single Application of a Novel Photosensitizer in The Treatment of Chronic Periodontitis - A Randomized Controlled Trial Recruiting NCT04374383 Phase 2 Phthalocyanine Dye;LASER assisted SRP
30 Superficial Basal Cell Cancer's Photodynamic Therapy: Comparing Three Photosensitizers: Hexylaminolevulinate and Aminolevulinic Acid Nano Emulsion Versus Methylaminolevulinate Active, not recruiting NCT02367547 Phase 1, Phase 2 Hexylaminolevulinate cream;Aminolevulinic Acid Nano Emulsion;Methylaminolevulinate cream
31 Vitamin D Supplementation as a Neoadjuvant for Photodynamic Therapy of Actinic Keratoses Active, not recruiting NCT04140292 Phase 2 Photodynamic therapy (PDT);Vitamin D3
32 Intrapleural Photodynamic Therapy by Video-Assisted Thoracoscopy Followed by Anti-PD-1 NIVOLUMAB in Patients With Malignant Pleural Mesothelioma - a Pilot Study Not yet recruiting NCT04400539 Phase 2 Nivolumab Injection
33 Effectiveness of Antimicrobial Photodynamic Therapy and Guedes-Pinto Paste for Endodontic Treatment of Deciduous Teeth - Study Protocol for a Randomized Controlled Clinical Trial Not yet recruiting NCT04587089 Phase 1, Phase 2
34 Sleep and Circadian Regulation in Diabetic Retinopathy: The Role of Intrinsically Photosensitive Retinal Ganglion Cells and Melatonin Supplementation Not yet recruiting NCT04547439 Phase 2 Melatonin
35 Evaluation of Photosensitivity in Dabrafenib or Vemurafenib Treated Metastatic Melanoma Patients - a Phase IIa/IIb Study Terminated NCT02052193 Phase 2 Dabrafenib;Vemurafenib
36 A Multicenter, Double-Blind, Randomized, Crossover, Single-Dose Study With An Open-Label Treatment Period Evaluating Pharmacodynamic Activity of E2082 in Adult Subjects With Photosensitive Epilepsy Terminated NCT03686033 Phase 2 Placebo;E2082
37 A Multicenter, Double-Blind, Randomized, Cross-Over Study Evaluating Pharmacodynamic Activity of E2730 in Adult Subjects With Photosensitive Epilepsy Terminated NCT03603639 Phase 2 Placebo;E2730
38 Prospective, Randomized, Controlled, Partially Blinded, Skin Photobiological Clinical Study of the Efficacy and Safety of a Sunscreen Product as Skin Protector Against Porfimer Sodium-induced Phototoxicity to Visible Light Withdrawn NCT01256203 Phase 2 Solar Protection Formula SPF® 60
39 Photosensitivity Trial. A Randomized, Double-blind, Double Dummy, Placebo- and Positive Controlled Phase I Trial to Evaluate the Photosensitizing Potential of TMC435 in Healthy Subjects. Completed NCT01124799 Phase 1 TMC435;Placebo;Ciprofloxacin
40 A Within-subject, Randomized, Evaluator-blinded, Vehicle-controlled Study to Assess the Photosensitization Potential of Finasteride Cutaneous Solution(P-3074) in Human Subjects Completed NCT02791243 Phase 1 Finasteride 0.25%;Placebo for Finasteride 0.25%;Negative Control
41 A Phase 1 Study Evaluating Skin Irritation, Phototoxicity and Safety After Administration of LEO 90105 on Intact Skin of Healthy Japanese Male Subjects A Single Centre, Randomised, Controlled, Investigator Blinded Study With Intra-individual Comparison of the Active Formulation and Its Components Completed NCT01293357 Phase 1 LEO 90105
42 A Pilot Pediatric/Adult Study of Gene Expression Profiling and Clinical Characterization of Phototoxicity Completed NCT00353158 Phase 1 Doxycycline;Voriconazole
43 A 4-Day, Randomized, Controlled Study to Evaluate the Phototoxicity Potential of FMX-101, 4% in Healthy Volunteers Completed NCT04070742 Phase 1 FMX101
44 A 4-Day, Randomized Study to Evaluate the Potential of MC2-01 Cream to Induce a Phototoxicity Skin Reaction in Healthy Subjects, Using a Controlled Photopatch Test Design Completed NCT03892564 Phase 1 MC2-01 Cream, irradiation;MC2-01 Cream, no irradiation;MC2-01 vehicle, irradiation;MC2-01 vehicle, no irradiation;Control, irradiation
45 Photodynamic Therapy (PDT) for Poor Prognosis Recurrent/Refractory Malignant Brain Tumors - A Phase I Study Completed NCT01682746 Phase 1 Photofrin (porfimer sodium) & photodynamic therapy.
46 Partially-blind, Randomized, Parallel Group, Placebo and Active Comparator-controlled Phase I Clinical Trial to Evaluate the Photosensitivity Potential of BI 730357 Completed NCT04147260 Phase 1 BI 730357;Placebo to match BI 730357;Ciprofloxacin
47 A 6-Week, Randomized Study to Evaluate the Potential of CCP-020 (Diacerein 1%) Topical Ointment to Induce a Photoallergic Skin Reaction in Healthy Subjects, Using a Controlled Photopatch Test Design Completed NCT03473197 Phase 1 Diacerein 1% ointment
48 A Phase 1 Trial of Photodynamic Therapy With HPPH in Patients With Pleural Malignancy Completed NCT01673074 Phase 1 (PDT) Photodynamic therapy
49 Tolerability and Efficacy of Daylight Aminolevulinic-acid-photodynamic Therapy (ALA-PDT) Compared With Conventional ALA-PDT for Treatment of Actinic Keratosis on the Face or Scalp Completed NCT03322293 Phase 1 Aminolevulinic Acid Topical 20% Topical Solution
50 A Phase I Study of Photodynamic Therapy (PDT) Plus Vitamin D3 for High-grade Anal Dysplasia and Microinvasive Anal Cancer Recruiting NCT02698293 Phase 1 Gliolan;Vitamin D3 cholecalciferol)

Search NIH Clinical Center for Photoparoxysmal Response 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


4-Aminobenzoic Acid
avobenzone
cinoxate
Hydroxychloroquine
Hydroxychloroquine Sulfate
oxybenzone
padimate-O
PARA-AMINOBENZOIC PWDR
retinol acetate
retinyl palmitate
Vitamin A
VITAMIN A (AS ACETATE & BETA CAROTENE)
VITAMIN A (AS PALMITATE & BETA CAROTENE)
VITAMIN A (NATURAL)
VITAMIN A PALMITATE (SOLUBILIZED)

Cochrane evidence based reviews: photosensitivity disorders

Genetic Tests for Photoparoxysmal Response 1

Anatomical Context for Photoparoxysmal Response 1

MalaCards organs/tissues related to Photoparoxysmal Response 1:

40
Skin, Liver, Brain, Lung, Colon, Breast

Publications for Photoparoxysmal Response 1

Articles related to Photoparoxysmal Response 1:

(show all 31)
# Title Authors PMID Year
1
Monozygous twin brothers discordant for photosensitive epilepsy: first report of possible visual priming in humans. 57
16146452 2005
2
Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. 57
15929039 2005
3
Genetics of photosensitivity (photoparoxysmal response): a review. 57
14706040 2004
4
Inheritance of photosensitivity. 57
10832582 2000
5
Photosensitivity--genetics and clinical significance. 57
8309513 1993
6
The different patterns of the photoparoxysmal response--a genetic study. 57
1378379 1992
7
[Photoconvulsive and photomyoclonic reactions: age-dependent, genetically determined variants of enhanced photosensitivity]. 57
5001029 1970
8
Some observations on the mechanism of photic and photometrazol activation. 57
12989085 1952
9
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. 54
17003376 2007
10
Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model. 54
17298226 2006
11
Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase. 54
15654982 2005
12
Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection. 54
11592836 2001
13
Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells. 54
11320408 2001
14
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. 54
10942404 2000
15
Long-term cure of the photosensitivity of murine erythropoietic protoporphyria by preselective gene therapy. 54
10395321 1999
16
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. 54
10068685 1999
17
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. 54
9585598 1998
18
Solar urticaria: case report and phototesting with lasers. 61
9486712 1998
19
[Erythropoietic protoporphyria]. 54
7616660 1995
20
Adjuvant-induced persistent photosensitivity models in guinea pigs. II. Characterization of immunological mechanisms. 61
7727356 1995
21
Recessive inheritance of erythropoietic protoporphyria with liver failure. 54
7910885 1994
22
Failure to induce toxicity in lambs by administering saponins from Narthecium ossifragum. 61
1803727 1991
23
Photosensitivity disease: pathophysiology and management. 61
2311926 1990
24
[Hypericum poisoning in sheep]. 61
2815063 1989
25
Drug-induced photoallergy. 61
2937587 1986
26
Photosensitivity. Classification. 61
3955888 1986
27
A syndrome of hepatogenous photosensitisation, resembling geeldikkop, in sheep grazing Tribulus terrestris. 61
6525116 1984
28
Photosensitivity in South Africa. II. The experimental production of the ovine hepatogenous photosensitivity disease geeldikkop (Tribulosis ovis) by the simultaneous ingestion of Tribulus terrestris plants and cultures of Pithomyces chartarum containing the mycotoxin sporidesmin. 61
7194997 1980
29
Carotenoid pigments and the treatment of erythropoietic protoporphyria. 61
739162 1978
30
[Darier's photosensitivity disease and its relation to Haber's syndrome]. 61
4283376 1974
31
A HEPATOGENOUS PHOTOSENSITIVITY DISEASE OF CATTLE. II. HISTOPATHOLOGY AND PATHOGENESIS OF THE HEPATIC LESIONS. 61
14287520 1965

Variations for Photoparoxysmal Response 1

ClinVar genetic disease variations for Photoparoxysmal Response 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC1 NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) SNV Pathogenic 978472 GRCh37: 19:45922415-45922415
GRCh38: 19:45419157-45419157
2 ERCC1 NM_001983.4(ERCC1):c.321+61_525+132del Deletion Pathogenic 981245 GRCh37: 19:45922224-45924375
GRCh38: 19:45418966-45421117
3 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) SNV Uncertain significance 9 rs1800562 GRCh37: 6:26093141-26093141
GRCh38: 6:26092913-26092913

Expression for Photoparoxysmal Response 1

Search GEO for disease gene expression data for Photoparoxysmal Response 1.

Pathways for Photoparoxysmal Response 1

GO Terms for Photoparoxysmal Response 1

Cellular components related to Photoparoxysmal Response 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair factor 1 complex GO:0000110 8.62 XPA ERCC1

Biological processes related to Photoparoxysmal Response 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to gamma radiation GO:0010332 9.56 ERCC6 DCUN1D3
2 global genome nucleotide-excision repair GO:0070911 9.55 XPA ERCC1
3 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.54 XPA ERCC1
4 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.52 XPA ERCC1
5 response to X-ray GO:0010165 9.51 ERCC6 ERCC1
6 transcription-coupled nucleotide-excision repair GO:0006283 9.5 XPA ERCC6 ERCC1
7 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.49 ERCC6 ERCC1
8 calcium ion import across plasma membrane GO:0098703 9.48 TRPV4 TRPV3
9 UV protection GO:0009650 9.46 XPA ERCC1
10 positive regulation of viral entry into host cell GO:0046598 9.43 TRIM21 CD4
11 UV-damage excision repair GO:0070914 9.4 XPA ERCC1
12 protoporphyrinogen IX biosynthetic process GO:0006782 9.37 UROD PPOX
13 negative regulation of protein neddylation GO:2000435 9.26 DCUN1D3 COPS9
14 protoporphyrinogen IX metabolic process GO:0046501 9.16 PPOX FECH
15 heme biosynthetic process GO:0006783 9.13 UROD PPOX FECH
16 porphyrin-containing compound biosynthetic process GO:0006779 8.8 UROD PPOX FECH

Sources for Photoparoxysmal Response 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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