PPR1
MCID: PHT010
MIFTS: 38

Photoparoxysmal Response 1 (PPR1)

Categories: Skin diseases

Aliases & Classifications for Photoparoxysmal Response 1

MalaCards integrated aliases for Photoparoxysmal Response 1:

Name: Photoparoxysmal Response 1 58 13 74
Photosensitivity Disease 12 15 17
Photosensitivity Disorders 45 74
Photoconvulsive Reaction 58
Photosensitivity of Skin 74
Dermatitis, Phototoxic 74
Epilepsy, Photogenic 58
Photosensitivity 58
Photodermatitis 12
Ppr1 58
Ppr 58

Characteristics:

OMIM:

58
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:

33
photoparoxysmal response 1:
Onset and clinical course age-dependent penetrance
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3159
OMIM 58 132100
MeSH 45 D010787
SNOMED-CT 69 22649008
MedGen 43 C1868677

Summaries for Photoparoxysmal Response 1

OMIM : 58 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 disease, is related to trichothiodystrophy 1, photosensitive and trichothiodystrophy 2, photosensitive, 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 prostate, 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 301)
# Related Disease Score Top Affiliating Genes
1 trichothiodystrophy 1, photosensitive 12.6
2 trichothiodystrophy 2, photosensitive 12.4
3 trichothiodystrophy 3, photosensitive 12.4
4 cutaneous photosensitivity and colitis, lethal 12.4
5 hair defect-photosensitivity-intellectual disability syndrome 12.3
6 epilepsy, photogenic, with spastic diplegia and mental retardation 12.3
7 hair defect with photosensitivity and mental retardation 12.1
8 ataxia-photosensitivity-short stature syndrome 12.0
9 chronic actinic dermatitis 11.9
10 trichothiodystrophy 4, nonphotosensitive 11.8
11 trichothiodystrophy 5, nonphotosensitive 11.7
12 trichothiodystrophy 6, nonphotosensitive 11.7
13 ataxia-telangiectasia-like disorder 2 11.7
14 xeroderma pigmentosum, variant type 11.6
15 cockayne syndrome 11.6
16 kindler syndrome 11.5
17 porphyria, congenital erythropoietic 11.5
18 protoporphyria, erythropoietic, 1 11.5
19 coproporphyria, hereditary 11.4
20 porphyria variegata 11.4
21 protoporphyria, erythropoietic, x-linked 11.4
22 uv-sensitive syndrome 11.4
23 photosensitive epilepsy 11.4
24 dermatomyositis 11.3
25 actinic prurigo 11.3
26 xeroderma pigmentosum, complementation group d 11.3
27 jeavons syndrome 11.3
28 phototoxic dermatitis 11.2
29 photoallergic dermatitis 11.1
30 hydroa vacciniforme 11.1
31 cone-rod dystrophy and hearing loss 2 11.1
32 cerebrooculofacioskeletal syndrome 1 11.1
33 hartnup disorder 11.1
34 xeroderma pigmentosum, complementation group f 11.1
35 uv-sensitive syndrome 1 11.1
36 uv-sensitive syndrome 2 11.1
37 uv-sensitive syndrome 3 11.1
38 protoporphyria, erythropoietic, 2 11.1
39 undifferentiated connective tissue disease 11.1
40 corneal dystrophy, lattice type i 10.9
41 prolidase deficiency 10.9
42 cockayne syndrome a 10.9
43 nonphotosensitive trichothiodystrophy 10.9
44 chd2 myoclonic encephalopathy 10.9
45 cockayne syndrome type i 10.9
46 cockayne syndrome type ii 10.9
47 cockayne syndrome type iii 10.9
48 dermatitis 10.5
49 lupus erythematosus 10.4
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

Human phenotypes related to Photoparoxysmal Response 1:

33
# Description HPO Frequency HPO Source Accession
1 eeg with photoparoxysmal response 33 HP:0010852

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Photoparoxysmal Response 1:


photophobia, pruritus, exanthema

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

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 FERMT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.47 FERMT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 FECH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.47 FERMT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.47 FERMT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.47 FERMT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.47 FECH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.47 FECH FERMT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.47 FECH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.47 FECH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.47 FECH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.47 FECH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.47 FERMT1
14 Effect on mitosis GR00257-A-2 9.13 HEXA TDO2 TRIM21

MGI Mouse Phenotypes related to Photoparoxysmal Response 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 FECH FERMT1 HEXA TDO2 TRIM21
2 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:

42
Skin, Brain, Prostate, T Cells, Bone, Spinal Cord, Bone Marrow

Publications for Photoparoxysmal Response 1

Articles related to Photoparoxysmal Response 1:

# Title Authors Year
1
Photosensitivity disease: pathophysiology and management. ( 2311926 )
1990
2
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. ( 7194997 )
1980
3
A HEPATOGENOUS PHOTOSENSITIVITY DISEASE OF CATTLE. II. HISTOPATHOLOGY AND PATHOGENESIS OF THE HEPATIC LESIONS. ( 14287520 )
1965

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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