PPR
MCID: PHT010
MIFTS: 40

Photoparoxysmal Response 1 (PPR)

Categories: Skin diseases

Aliases & Classifications for Photoparoxysmal Response 1

MalaCards integrated aliases for Photoparoxysmal Response 1:

Name: Photoparoxysmal Response 1 57 13 73
Photosensitivity Disorders 44 73
Photosensitivity Disease 12 15
Photoconvulsive Reaction 57
Photosensitivity of Skin 73
Dermatitis, Phototoxic 73
Epilepsy, Photogenic 57
Photosensitivity 57
Photodermatitis 12
Ppr1 57
Ppr 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
photoparoxysmal response 1:
Onset and clinical course age-dependent penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 132100
Disease Ontology 12 DOID:3159
MeSH 44 D010787
SNOMED-CT 68 22649008
MedGen 42 C1868677

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)

MalaCards based summary : Photoparoxysmal Response 1, also known as photosensitivity disorders, is related to photosensitive epilepsy and phototoxic dermatitis, and has symptoms including photophobia, pruritus and exanthema. An important gene associated with Photoparoxysmal Response 1 is PPR1 (Photoparoxysmal Response 1). Affiliated tissues include skin, brain and bone, and related phenotypes are eeg with photoparoxysmal response and Increased shRNA abundance (Z-score > 2)

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 244)
# Related Disease Score Top Affiliating Genes
1 photosensitive epilepsy 31.8 PPR1 IER3IP1
2 phototoxic dermatitis 31.5 TRIM21 IER3IP1
3 trichothiodystrophy 1, photosensitive 12.6
4 trichothiodystrophy 2, photosensitive 12.4
5 trichothiodystrophy 3, photosensitive 12.4
6 cutaneous photosensitivity and colitis, lethal 12.3
7 hair defect-photosensitivity-intellectual disability syndrome 12.2
8 epilepsy, photogenic, with spastic diplegia and mental retardation 12.2
9 hair defect with photosensitivity and mental retardation 12.0
10 ataxia-photosensitivity-short stature syndrome 12.0
11 chronic actinic dermatitis 11.8
12 trichothiodystrophy 4, nonphotosensitive 11.8
13 trichothiodystrophy 5, nonphotosensitive 11.7
14 trichothiodystrophy 6, nonphotosensitive 11.7
15 ataxia-telangiectasia-like disorder 2 11.6
16 cockayne syndrome 11.6
17 xeroderma pigmentosum, variant type 11.6
18 kindler syndrome 11.5
19 porphyria, congenital erythropoietic 11.5
20 protoporphyria, erythropoietic, 1 11.4
21 coproporphyria, hereditary 11.4
22 porphyria variegata 11.4
23 protoporphyria, erythropoietic, x-linked 11.4
24 actinic prurigo 11.2
25 dermatomyositis 11.2
26 xeroderma pigmentosum, complementation group d 11.2
27 jeavons syndrome 11.2
28 photoallergic dermatitis 11.1
29 hydroa vacciniforme 11.1
30 perrault syndrome 1 11.1
31 cerebrooculofacioskeletal syndrome 1 11.0
32 hartnup disorder 11.0
33 xeroderma pigmentosum, complementation group f 11.0
34 uv-sensitive syndrome 1 11.0
35 uv-sensitive syndrome 2 11.0
36 uv-sensitive syndrome 3 11.0
37 protoporphyria, erythropoietic, 2 11.0
38 uv-sensitive syndrome 11.0
39 corneal dystrophy, lattice type i 10.9
40 prolidase deficiency 10.9
41 cockayne syndrome a 10.9
42 nonphotosensitive trichothiodystrophy 10.9
43 chd2 myoclonic encephalopathy 10.9
44 cockayne syndrome type i 10.9
45 cockayne syndrome type ii 10.9
46 cockayne syndrome type iii 10.9
47 dermatitis 10.5
48 lupus erythematosus 10.4
49 cutaneous lupus erythematosus 10.3
50 porphyria 10.3

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



Diseases related to Photoparoxysmal Response 1

Symptoms & Phenotypes for Photoparoxysmal Response 1

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Photoparoxysmal Response 1:

32
# Description HPO Frequency HPO Source Accession
1 eeg with photoparoxysmal response 32 HP:0010852

UMLS symptoms related to Photoparoxysmal Response 1:


photophobia, pruritus, exanthema

GenomeRNAi Phenotypes related to Photoparoxysmal Response 1 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.44 FERMT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.44 FERMT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.44 FECH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.44 FERMT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.44 FERMT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.44 FERMT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.44 FECH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.44 FECH FERMT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.44 FECH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.44 FECH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.44 FECH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.44 FERMT1

MGI Mouse Phenotypes related to Photoparoxysmal Response 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 FECH FERMT1 TDO2 TRIM21

Drugs & Therapeutics for Photoparoxysmal Response 1

Genetic Tests for Photoparoxysmal Response 1

Anatomical Context for Photoparoxysmal Response 1

MalaCards organs/tissues related to Photoparoxysmal Response 1:

41
Skin, Brain, Bone, Liver, Colon, Prostate, Bone Marrow

Publications for Photoparoxysmal Response 1

Articles related to Photoparoxysmal Response 1:

(show all 15)
# Title Authors Year
1
Pediatric photosensitivity disorders. ( 23557658 )
2013
2
Update on pediatric photosensitivity disorders. ( 23817304 )
2013
3
A review of UVB-mediated photosensitivity disorders. ( 23023766 )
2013
4
Normal minimal erythema dose responses in patients with suspected photosensitivity disorders. ( 23126294 )
2012
5
Photosensitivity disorders in children: part I. ( 23158621 )
2012
6
Photosensitivity disorders in children: part II. ( 23158622 )
2012
7
A review of UVA-mediated photosensitivity disorders. ( 22127510 )
2012
8
Impact of photosensitivity disorders on the life quality of children. ( 23126289 )
2012
9
The impact of photosensitivity disorders on aspects of lifestyle. ( 20545692 )
2010
10
Photosensitivity disorders: cause, effect and management. ( 12010069 )
2002
11
Increase in sunburns and photosensitivity disorders at the edge of the Antarctic ozone hole, southern Chile, 1986-2000. ( 11807429 )
2002
12
A candidate gene analysis of three related photosensitivity disorders: cutaneous lupus erythematosus, polymorphic light eruption and actinic prurigo. ( 11531784 )
2001
13
Pediatric photosensitivity disorders. ( 9704212 )
1998
14
Photosensitivity disorders in childhood. ( 9551148 )
1997
15
SUNLIGHT AND SKIN. II. PHOTOSENSITIVITY DISORDERS. ( 14218576 )
1964

Variations for Photoparoxysmal Response 1

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

Sources for Photoparoxysmal Response 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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