HPLE
MCID: ACT164
MIFTS: 44

Actinic Prurigo (HPLE)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Actinic Prurigo

MalaCards integrated aliases for Actinic Prurigo:

Name: Actinic Prurigo 56 58 71
Hereditary Polymorphous Light Eruption of American Indians 58
Familial Polymorphous Light Eruption of American Indians 58
Polymorphic Light Eruption, Hereditary; Hple 56
Polymorphic Light Eruption, Hereditary 56
Hutchinson Summer Prurigo 58
Hydroa Aestivale 58
Hple 56

Characteristics:

Orphanet epidemiological data:

58
actinic prurigo
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
actinic prurigo:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 174770
ICD10 via Orphanet 33 L56.4
UMLS via Orphanet 72 C0406217
Orphanet 58 ORPHA330061
MedGen 41 C0406217
UMLS 71 C0406217

Summaries for Actinic Prurigo

OMIM : 56 Hereditary polymorphic light eruption is a form of photosensitivity found in the American Indians of the central plains of Canada and the United States and in the Indians of Central and South America. The disorder has also been called familial actinic prurigo, solar dermatitis, and hydroa aestivale. In northern latitudes, skin lesions appear on exposed areas early in spring, become severe during the summer, and abate in the fall. Usually the disorder appears in childhood with eczematous crusted eruptions on the face and arms. Fissured, crusted exudative cheilitis develops on the lips, especially the lower lip. The dorsum of the hands, the laterodorsal aspects of the forearms, and the lower half of the arms often show excoriated papular and nodular lesions. Children frequently have complicating pyoderma. Adults usually exhibit an erythematous plaquelike eruption on the face and other exposed areas. The disease is more severe in children than in adults. Glomerulonephritis can follow streptococcal pyoderma (summary by Fusaro and Johnson, 1980). (174770)

MalaCards based summary : Actinic Prurigo, also known as hereditary polymorphous light eruption of american indians, is related to conjunctivitis and keratoconjunctivitis. An important gene associated with Actinic Prurigo is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. Affiliated tissues include skin, b cells and lung, and related phenotypes are cutaneous photosensitivity and cheilitis

Wikipedia : 74 Actinic prurigo is a rare sunlight-induced, pruritic, papular or nodular skin eruption. Some medical... more...

Related Diseases for Actinic Prurigo

Diseases related to Actinic Prurigo via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 conjunctivitis 30.7 TNF IL13 ICAM1
2 keratoconjunctivitis 30.0 TNF IL13 ICAM1
3 cutaneous lupus erythematosus 29.6 TNF SELE ICAM1
4 urticaria 29.4 TNF SELE IL13
5 allergic hypersensitivity disease 29.3 TNF ITGA4 IL13 ICAM1 CD69
6 contact dermatitis 29.3 TNF SELE IL1B ICAM1
7 allergic contact dermatitis 29.0 TNF SELE IL1B ICAM1
8 skin disease 29.0 TNF SELE ITGAL IL13 ICAM1
9 autoimmune disease 28.0 VCAM1 TNF ITGAL IL1B IL13 HLA-DRB1
10 dermatitis, atopic 27.1 VCAM1 TNF SELE IL1B IL13 ICAM3
11 porphyria 10.5
12 cheilitis 10.5
13 microscopic polyangiitis 10.5 TNF HLA-DRB1
14 beryllium disease 10.4 TNF HLA-DRB1
15 chronic beryllium disease 10.4 TNF HLA-DRB1
16 protoporphyria, erythropoietic, 1 10.4
17 hypertrichosis 10.4
18 nontuberculous mycobacterial lung disease 10.4 TNF HLA-DRB1
19 spondylarthropathy 10.3 TNF ITGAL
20 autoimmune enteropathy 10.3 ITGAL ICAM1
21 oligoarticular juvenile idiopathic arthritis 10.3 TNF HLA-DRB1
22 angioimmunoblastic lymphadenopathy with dysproteinemia 10.3 TNF IL13
23 mesial temporal lobe epilepsy with hippocampal sclerosis 10.3 IL1B HLA-DRB1
24 lethal midline granuloma 10.3 ICAM1 CD2
25 whipple disease 10.3 HLA-DRB1 CD58
26 systemic onset juvenile idiopathic arthritis 10.3 TNF IL1B
27 staphylococcal toxic shock syndrome 10.2 TNF IL1B
28 intermediate uveitis 10.2 TNF HLA-DRB1 CD69
29 vulvar vestibulitis syndrome 10.2 TNF IL1B
30 palladium allergic contact dermatitis 10.2 TNF IL1B
31 kashin-beck disease 10.2 TNF IL1B
32 carbapenem allergy 10.2 IL13 CD69
33 dowling-degos disease 1 10.2
34 dermatitis 10.2
35 lichen planus 10.2 TNF ITGAL ICAM1
36 combined thymoma 10.2 TNF IL13
37 rheumatic fever 10.2 TNF ICAM1 HLA-DRB1
38 idiopathic eosinophilic pneumonia 10.2 ITGAL ITGA4
39 co-trimoxazole allergy 10.2 IL13 CD69
40 mumps 10.2 TNF HLA-DRB1 CD69
41 congenital cytomegalovirus 10.2 TNF IL1B
42 pulmonary sarcoidosis 10.2 TNF ITGAL ICAM1
43 lepromatous leprosy 10.2 TNF ICAM1 CD2
44 stachybotrys chartarum 10.1 TNF IL1B
45 eales disease 10.1 TNF IL1B
46 exanthem 10.1
47 keratosis 10.1
48 actinic cheilitis 10.1
49 cytokine deficiency 10.1
50 hydroa vacciniforme 10.1

Graphical network of the top 20 diseases related to Actinic Prurigo:



Diseases related to Actinic Prurigo

Symptoms & Phenotypes for Actinic Prurigo

Human phenotypes related to Actinic Prurigo:

31
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 31 HP:0000992
2 cheilitis 31 HP:0100825
3 glomerulonephritis 31 HP:0000099
4 pyoderma 31 HP:0000999

Symptoms via clinical synopsis from OMIM:

56
Skin:
photosensitivity
actinic prurigo
solar dermatitis
hydroa aestivale
eczematous crusted eruptions on face and arms
more
G U:
glomerulonephritis can follow streptococcal pyoderma

Misc:
found in indians of north, central and south america
frequent complicating pyoderma
more severe in children than in adults
oral beta carotene provides photoprotection

Clinical features from OMIM:

174770

GenomeRNAi Phenotypes related to Actinic Prurigo according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.62 IL13
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.62 IL1B ITGA4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.62 ITGA4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.62 IL13
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.62 IL1B ITGA4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.62 IL1B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.62 CD58
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.62 CD58 ITGA4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.62 CD58
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.62 IL13
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-172 9.62 ITGA4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.62 CD58 IL13 IL1B ITGA4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.62 CD58
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.62 IL1B

MGI Mouse Phenotypes related to Actinic Prurigo:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 CD69 ICAM1 IL13 IL1B ITGA4 ITGAL
2 immune system MP:0005387 9.28 CD69 ICAM1 IL13 IL1B ITGA4 ITGAL

Drugs & Therapeutics for Actinic Prurigo

Search Clinical Trials , NIH Clinical Center for Actinic Prurigo

Genetic Tests for Actinic Prurigo

Anatomical Context for Actinic Prurigo

MalaCards organs/tissues related to Actinic Prurigo:

40
Skin, B Cells, Lung, Eye, Testes, T Cells, Bone

Publications for Actinic Prurigo

Articles related to Actinic Prurigo:

(show top 50) (show all 163)
# Title Authors PMID Year
1
Major gene segregation of actinic prurigo among North American Indians in Saskatchewan. 61 56
10817657 2000
2
Actinic prurigo: clinical features and prognosis. 61 56
1583166 1992
3
Juvenile spring eruption of the ears: a probable variant of polymorphic light eruption. 56
2025559 1991
4
Current aspects of polymorphous light eruptions in Sweden. 56
3547354 1986
5
Hereditary polymorphic light eruption in American Indians. Photoprotection and prevention of streptococcal pyoderma and glomerulonephritis. 56
7420635 1980
6
Heredity of chronic polymorphous light eruptions. 56
629543 1978
7
Hereditary polymorphic light eruption of American Indians. 56
1091569 1975
8
Juvenile spring eruption. 56
13153106 1954
9
Thalidomide: An option for the pediatric patient with actinic prurigo. 61
31875999 2019
10
Actinic prurigo: a condition that affects the Latin American population. 61
31350757 2019
11
Epidermal Langerhans cells resistance to solar-simulated radiation in actinic prurigo patients with low minimal erythema dose. 61
31541482 2019
12
Photocontact Dermatitis and Its Clinical Mimics: an Overview for the Allergist. 61
29951786 2019
13
Serum cytokine profiling in patients with actinic prurigo. 61
30530429 2018
14
Expression of E-cadherin, syndecan 1, Ki-67, and maintenance minichromosome 3 in tissue lesions of actinic prurigo obtained by incisional biopsy. 61
29676362 2018
15
Risk factors associated with actinic prurigo: a case control study. 61
29364431 2017
16
Actinic prurigo as a hypersensitivity reaction type 4. 61
28239837 2017
17
Actinic Prurigo in Scandinavian Adolescent Successfully Treated with Cyclosporine A. 61
29142659 2017
18
Adult-onset actinic prurigo: report of 19 patients from Taiwan. 61
26538497 2016
19
Actinic Prurigo Cheilitis: A Clinicopathologic Review of 75 Cases. 61
26981737 2016
20
Characteristics of actinic prurigo in Scotland: 24 cases seen between 2001 and 2015. 61
26847497 2016
21
Actinic Prurigo in Singaporean Chinese: A Positive Association with HLA-DRB1*03:01. 61
26787110 2016
22
Thalidomide for the treatment of chronic refractory pruritus. 61
26577510 2016
23
Correlation of serum IgE levels and clinical manifestations in patients with actinic prurigo. 61
26982774 2016
24
Apoptosis and apoptotic pathway in actinic prurigo by immunohistochemistry. 61
26615506 2016
25
Inmunohistochemical detection of mastocytes in tissue from patients with actinic prurigo. 61
26644844 2015
26
Actinic Prurigo. 61
26861426 2015
27
Review of thalidomide use in the pediatric population. 61
25617013 2015
28
Determination of apoptosis in actinic prurigo by TUNEL technique. 61
25377923 2015
29
Oral and Maxillofacial Pathology. Case of the Month. Actinic prurigo. 61
26234110 2015
30
Allergic contact dermatitis to Parthenium hysterophorus mimicking actinic prurigo. 61
25566915 2015
31
Actinic prurigo: a case-control study of risk factors. 61
23968196 2014
32
Actinic prurigo of the lip: Two case reports. 61
25133153 2014
33
Actinic prurigo. 61
24891055 2014
34
[Current therapeutic indications of thalidomide and lenalidomide]. 61
23830554 2014
35
Clinical characteristics of adult-onset actinic prurigo in Asians: a case series. 61
24177610 2013
36
Energy-saving lamps and their impact on photosensitive and normal individuals. 61
23746038 2013
37
Photodermatoses in pigmented skin. 61
23123922 2013
38
Impact of photosensitivity disorders on the life quality of children. 61
23126289 2012
39
Case for diagnosis. Actinic prurigo. 61
21152806 2010
40
Innovative uses of thalidomide. 61
20510766 2010
41
Chronic actinic prurigo presenting in an adopted child. 61
20199425 2010
42
Epidermal Langerhans cells in actinic prurigo: a comparison between lesional and non-lesional skin. 61
19744180 2009
43
Hypodontia in a patient with actinic prurigo: a case report. 61
19619430 2009
44
Epidermal Langerhans cells in Actinic Prurigo: a comparison between lesional and non-lesional skin. 61
19335731 2009
45
Immunologically mediated photodermatoses: diagnosis and treatment. 61
19354331 2009
46
Chlamydia trachomatis Infection and Photosensitive Dermatoses. 61
27688572 2008
47
Actinic prurigo. 61
18811871 2008
48
The quality of life of 790 patients with photodermatoses. 61
18460025 2008
49
[Actinic prurigo]. 61
18405482 2008
50
Adult-onset actinic prurigo in Thailand. 61
17986059 2007

Variations for Actinic Prurigo

Expression for Actinic Prurigo

Search GEO for disease gene expression data for Actinic Prurigo.

Pathways for Actinic Prurigo

Pathways related to Actinic Prurigo according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 VCAM1 TNF ITGAL ITGA4 IL1B IL13
2
Show member pathways
13.45 TNF ITGAL ITGA4 IL1B IL13 ICAM1
3
Show member pathways
13.36 VCAM1 ITGAL ITGA4 ICAM3 ICAM1 HLA-DRB1
4
Show member pathways
13.32 TNF ITGAL ITGA4 IL1B IL13 CD2
5
Show member pathways
13.26 VCAM1 TNF IL1B IL13 ICAM1 HLA-DRB1
6
Show member pathways
12.78 TNF ITGAL IL1B ICAM1 HLA-DRB1 CD58
7
Show member pathways
12.78 TNF ITGAL ITGA4 IL1B IL13 ICAM1
8
Show member pathways
12.69 VCAM1 ITGAL ITGA4 ICAM3 ICAM1
9
Show member pathways
12.58 VCAM1 ITGAL ITGA4 ICAM1
10
Show member pathways
12.52 TNF IL1B IL13 HLA-DRB1
11 12.49 VCAM1 TNF IL1B CD2
12 12.29 TNF ITGAL ICAM1 HLA-DRB1
13
Show member pathways
12.22 TNF ITGA4 IL1B HLA-DRB1
14
Show member pathways
12.22 SELE ITGAL ITGA4 CD58 CD2
15
Show member pathways
12.16 VCAM1 ITGAL ITGA4 ICAM3 ICAM1
16 12.09 VCAM1 TNF SELE IL1B ICAM1
17 12.06 VCAM1 ITGAL ITGA4 ICAM3 ICAM1
18 11.98 TNF ITGAL CD69 CD2
19 11.98 VCAM1 TNF IL1B IL13 ICAM1
20
Show member pathways
11.97 TNF IL1B IL13
21
Show member pathways
11.96 ITGA4 IL1B IL13
22 11.96 VCAM1 TNF SELE IL1B ICAM1
23 11.95 VCAM1 ITGA4 ICAM1
24 11.94 TNF ITGA4 IL1B
25 11.94 TNF IL1B ICAM1
26 11.91 VCAM1 TNF IL1B ICAM1
27 11.85 VCAM1 TNF SELE IL1B ICAM1
28 11.83 ITGAL ICAM1 HLA-DRB1
29 11.83 TNF ITGA4 IL1B HLA-DRB1 CD2
30 11.79 TNF ITGA4 IL1B IL13
31 11.77 TNF ITGAL IL1B ICAM1 HLA-DRB1
32 11.75 SELE IL13 ICAM1
33 11.69 TNF IL1B IL13
34 11.63 TNF IL1B IL13
35
Show member pathways
11.57 VCAM1 TNF SELE IL1B ICAM1
36 11.55 TNF IL1B IL13 ICAM1
37 11.47 VCAM1 SELE ICAM1
38
Show member pathways
11.45 VCAM1 ITGAL ITGA4
39 11.44 VCAM1 SELE ITGAL ITGA4 ICAM3 ICAM1
40 11.3 TNF IL1B IL13
41 11.3 VCAM1 ITGAL ITGA4 ICAM3 ICAM1
42 11.24 TNF IL1B IL13 HLA-DRB1
43 11.13 VCAM1 TNF IL1B
44 11.13 VCAM1 TNF SELE ITGAL IL1B ICAM1
45 11.12 VCAM1 TNF SELE IL1B ICAM1
46 10.98 TNF ITGAL ITGA4 IL1B IL13 CD2
47 10.83 VCAM1 TNF IL1B ICAM1

GO Terms for Actinic Prurigo

Cellular components related to Actinic Prurigo according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.07 VCAM1 TNF SELE ITGAL ITGA4 ICAM3
2 integral component of membrane GO:0016021 10 VCAM1 TNF SELE ITGAL ITGA4 ICAM3
3 extracellular exosome GO:0070062 9.95 VCAM1 ITGAL ITGA4 ICAM3 ICAM1 HLA-DRB1
4 integral component of plasma membrane GO:0005887 9.76 VCAM1 TNF SELE ICAM3 ICAM1 CD69
5 membrane raft GO:0045121 9.62 TNF SELE ICAM1 CD2
6 external side of plasma membrane GO:0009897 9.5 VCAM1 TNF IL13 ICAM1 HLA-DRB1 CD69
7 cell surface GO:0009986 9.28 VCAM1 TNF ITGAL ITGA4 ICAM1 HLA-DRB1

Biological processes related to Actinic Prurigo according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.95 VCAM1 SELE ITGAL ITGA4 ICAM3 ICAM1
2 inflammatory response GO:0006954 9.92 TNF SELE ITGAL IL1B IL13
3 cytokine-mediated signaling pathway GO:0019221 9.89 VCAM1 TNF IL1B IL13 ICAM1
4 regulation of immune response GO:0050776 9.88 VCAM1 ITGAL ITGA4 ICAM3 ICAM1
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.85 TNF IL1B ICAM1
6 cellular response to tumor necrosis factor GO:0071356 9.85 VCAM1 ICAM1 CD58
7 response to lipopolysaccharide GO:0032496 9.85 VCAM1 SELE IL1B IL13 ICAM1
8 response to ethanol GO:0045471 9.81 VCAM1 IL13 ICAM1
9 extracellular matrix organization GO:0030198 9.8 VCAM1 TNF ITGAL ITGA4 ICAM3 ICAM1
10 cell-matrix adhesion GO:0007160 9.79 VCAM1 ITGAL ITGA4
11 interferon-gamma-mediated signaling pathway GO:0060333 9.78 VCAM1 ICAM1 HLA-DRB1
12 cellular response to amyloid-beta GO:1904646 9.73 VCAM1 ITGA4 ICAM1
13 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.73 VCAM1 SELE ITGAL ICAM1
14 positive regulation of nitric oxide biosynthetic process GO:0045429 9.72 TNF IL1B ICAM1
15 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.67 TNF IL1B
16 heterotypic cell-cell adhesion GO:0034113 9.67 VCAM1 ITGA4 CD58 CD2
17 positive regulation of glial cell proliferation GO:0060252 9.66 TNF IL1B
18 negative regulation of lipid catabolic process GO:0050995 9.66 TNF IL1B
19 astrocyte activation GO:0048143 9.65 TNF IL1B
20 positive regulation of interleukin-8 secretion GO:2000484 9.65 CD58 CD2
21 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.65 TNF IL1B
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.64 TNF IL1B
23 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.64 TNF IL1B
24 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.63 TNF ICAM1
25 cell-cell adhesion GO:0098609 9.63 VCAM1 ITGAL ICAM3 ICAM1 CD58 CD2
26 positive regulation of neuroinflammatory response GO:0150078 9.62 TNF IL1B
27 positive regulation of chemokine biosynthetic process GO:0045080 9.61 TNF IL1B
28 regulation of establishment of endothelial barrier GO:1903140 9.6 TNF IL1B
29 positive regulation of fever generation GO:0031622 9.59 TNF IL1B
30 membrane to membrane docking GO:0022614 9.58 VCAM1 ICAM1
31 sequestering of triglyceride GO:0030730 9.58 TNF IL1B
32 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 9.57 ITGAL ICAM1
33 leukocyte tethering or rolling GO:0050901 9.56 VCAM1 TNF SELE ITGA4
34 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.54 TNF IL1B
35 cell-cell adhesion in response to extracellular stimulus GO:0140039 9.51 VCAM1 ITGA4
36 leukocyte cell-cell adhesion GO:0007159 9.35 VCAM1 SELE ITGAL ITGA4 ICAM1
37 leukocyte migration GO:0050900 9.23 TNF SELE ITGAL ITGA4 IL1B ICAM1

Molecular functions related to Actinic Prurigo according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 9.13 VCAM1 ITGAL ITGA4
2 integrin binding GO:0005178 8.92 VCAM1 IL1B ICAM3 ICAM1

Sources for Actinic Prurigo

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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