HPLE
MCID: ACT164
MIFTS: 50

Actinic Prurigo (HPLE)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Actinic Prurigo

MalaCards integrated aliases for Actinic Prurigo:

Name: Actinic Prurigo 57 59 73
Hereditary Polymorphous Light Eruption of American Indians 59
Familial Polymorphous Light Eruption of American Indians 59
Polymorphic Light Eruption, Hereditary; Hple 57
Polymorphic Light Eruption, Hereditary 57
Hutchinson Summer Prurigo 59
Hydroa Aestivale 59
Hple 57

Characteristics:

Orphanet epidemiological data:

59
actinic prurigo
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
actinic prurigo:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 174770
Orphanet 59 ORPHA330061
ICD10 via Orphanet 34 L56.4
UMLS via Orphanet 74 C0406217
MedGen 42 C0406217
UMLS 73 C0406217

Summaries for Actinic Prurigo

OMIM : 57 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 cutaneous lupus erythematosus and allergic contact dermatitis. 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 cheilitis and cutaneous photosensitivity

Wikipedia : 76 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 150)
# Related Disease Score Top Affiliating Genes
1 cutaneous lupus erythematosus 30.0 TNF SELE ICAM1
2 allergic contact dermatitis 29.7 TNF SELE IL1B ICAM1
3 contact dermatitis 29.7 TNF SELE IL1B ICAM1
4 porphyria 10.4
5 protoporphyria, erythropoietic, 1 10.3
6 hypertrichosis 10.3
7 hydroa vacciniforme 10.3
8 microscopic polyangiitis 10.3 TNF HLA-DRB1
9 beryllium disease 10.3 TNF HLA-DRB1
10 chronic beryllium disease 10.3 TNF HLA-DRB1
11 anca-associated vasculitis 10.3 TNF HLA-DRB1
12 whipple disease 10.2 HLA-DRB1 CD58
13 recurrent respiratory papillomatosis 10.2 IL13 HLA-DRB1
14 angioimmunoblastic lymphadenopathy with dysproteinemia 10.2 TNF IL13
15 microscopic colitis 10.2 HLA-DRB1 TNF
16 pediatric multiple sclerosis 10.2 ITGA4 HLA-DRB1
17 autoimmune enteropathy 10.2 ITGAL ICAM1
18 lethal midline granuloma 10.2 ICAM1 CD2
19 mesial temporal lobe epilepsy with hippocampal sclerosis 10.2 IL1B HLA-DRB1
20 exudative glomerulonephritis 10.2 TNF IL1B
21 penicilliosis 10.2 ITGAL TNF
22 sympathetic ophthalmia 10.2 HLA-DRB1 TNF
23 staphylococcal toxic shock syndrome 10.2 TNF IL1B
24 trichuriasis 10.2 IL13 TNF
25 vulvar vestibulitis syndrome 10.2 TNF IL1B
26 rheumatoid lung disease 10.2 TNF IL1B
27 kashin-beck disease 10.2 TNF IL1B
28 nontuberculous mycobacterial lung disease 10.2 HLA-DRB1 TNF
29 cheilitis 10.2
30 burns 10.2 TNF IL1B
31 laryngitis 10.2 TNF IL1B
32 glossitis 10.2 TNF IL1B
33 haemophilus influenzae 10.2 TNF IL1B
34 marburg hemorrhagic fever 10.2 TNF ICAM3
35 critical limb ischemia 10.2 TNF SELE
36 opisthorchiasis 10.2 TNF IL1B
37 congenital cytomegalovirus 10.2 TNF IL1B
38 trichosporonosis 10.2 TNF ICAM3
39 acute vascular insufficiency of intestine 10.2 TNF IL1B
40 irritant dermatitis 10.2 TNF IL1B
41 scleritis 10.2 TNF SELE
42 diffuse infiltrative lymphocytosis syndrome 10.2 ITGAL TNF
43 osteosclerotic myeloma 10.1 IL1B TNF
44 diversion colitis 10.1 IL1B ICAM1
45 heterophyiasis 10.1 SELE ICAM1
46 focal segmental glomerulosclerosis 1 10.1 IL1B ICAM1
47 lichen planus 10.1 TNF ITGAL ICAM1
48 crohn's colitis 10.1 IL1B TNF
49 central nervous system vasculitis 10.1 TNF IL1B HLA-DRB1
50 poems syndrome 10.1 IL1B TNF

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



Diseases related to Actinic Prurigo

Symptoms & Phenotypes for Actinic Prurigo

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Actinic Prurigo:

32
# Description HPO Frequency HPO Source Accession
1 cheilitis 32 HP:0100825
2 cutaneous photosensitivity 32 HP:0000992
3 pyoderma 32 HP:0000999
4 glomerulonephritis 32 HP:0000099

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.55 IL1B ITGA4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.55 ITGA4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.55 IL1B ITGA4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.55 IL1B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.55 CD58
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.55 CD58 ITGA4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.55 CD58
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.55 IL13
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.55 CD58 IL13 IL1B ITGA4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.55 IL13
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.55 CD58

MGI Mouse Phenotypes related to Actinic Prurigo:

46
# 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:

41
Skin, B Cells, Lung, Bone, Colon, Heart, Lymph Node

Publications for Actinic Prurigo

Articles related to Actinic Prurigo:

(show top 50) (show all 99)
# Title Authors Year
1
Actinic Prurigo ( 29763132 )
2018
2
Expression of E-cadherin, syndecan 1, Ki-67, and maintenance minichromosome 3 in tissue lesions of actinic prurigo obtained by incisional biopsy. ( 29676362 )
2018
3
Serum cytokine profiling in patients with actinic prurigo. ( 30530429 )
2018
4
Risk factors associated with actinic prurigo: a case control study. ( 29364431 )
2017
5
Actinic Prurigo in Scandinavian Adolescent Successfully Treated with Cyclosporine A. ( 29142659 )
2017
6
Actinic prurigo as a hypersensitivity reaction type 4. ( 28239837 )
2017
7
Apoptosis and apoptotic pathway in actinic prurigo by immunohistochemistry. ( 26615506 )
2016
8
Actinic Prurigo Cheilitis: A Clinicopathologic Review of 75 Cases. ( 26981737 )
2016
9
Correlation of serum IgE levels and clinical manifestations in patients with actinic prurigo. ( 26982774 )
2016
10
Actinic Prurigo in Singaporean Chinese: A Positive Association with HLA-DRB1*03:01. ( 26787110 )
2016
11
Characteristics of actinic prurigo in Scotland: 24 cases seen between 2001 -2015. ( 26847497 )
2016
12
Allergic contact dermatitis to Parthenium hysterophorus mimicking actinic prurigo. ( 25566915 )
2015
13
Adult-onset actinic prurigo: report of 19 patients from Taiwan. ( 26538497 )
2015
14
Actinic Prurigo. ( 26861426 )
2015
15
Oral and Maxillofacial Pathology. Case of the Month. Actinic prurigo. ( 26234110 )
2015
16
Inmunohistochemical detection of mastocytes in tissue from patients with actinic prurigo. ( 26644844 )
2015
17
Actinic prurigo. ( 24891055 )
2014
18
Determination of apoptosis in actinic prurigo by TUNEL technique. ( 25377923 )
2014
19
Actinic prurigo of the lip: Two case reports. ( 25133153 )
2014
20
Clinical characteristics of adult-onset actinic prurigo in Asians: a case series. ( 24177610 )
2013
21
Actinic prurigo: a case-control study of risk factors. ( 23968196 )
2013
22
Chronic actinic prurigo presenting in an adopted child. ( 20199425 )
2010
23
Case for diagnosis. Actinic prurigo. ( 21152806 )
2010
24
Hypodontia in a patient with actinic prurigo: a case report. ( 19619430 )
2009
25
Epidermal Langerhans cells in Actinic Prurigo: a comparison between lesional and non-lesional skin. ( 19335731 )
2009
26
Epidermal Langerhans cells in actinic prurigo: a comparison between lesional and non-lesional skin. ( 19744180 )
2009
27
Actinic prurigo. ( 18811871 )
2008
28
Adult-onset actinic prurigo in Thailand. ( 17986059 )
2007
29
Actinic prurigo deterioration due to degradation of DermaGard window film. ( 17553049 )
2007
30
Class I and class II major histocompatibility complex genes in Mexican patients with actinic prurigo. ( 17355228 )
2007
31
Immune responses to isolated human skin antigens in actinic prurigo. ( 16501416 )
2006
32
Association of HLA subtype DRB10407 in Colombian patients with actinic prurigo. ( 16606409 )
2006
33
Actinic prurigo in an Albanian girl. ( 16445427 )
2006
34
Successful thalidomide therapy for actinic prurigo in a European woman. ( 17081272 )
2006
35
Actinic prurigo. ( 16101881 )
2005
36
Primary cutaneous B-cell lymphoma associated with actinic prurigo. ( 16029348 )
2005
37
Evidence that thalidomide modifies the immune response of patients suffering from actinic prurigo. ( 15569010 )
2004
38
Pentoxifylline in the treatment of actinic prurigo. A preliminary report of 10 patients. ( 15118367 )
2004
39
Diagnosis and treatment of actinic prurigo. ( 12919125 )
2003
40
Actinic prurigo cheilitis: clinicopathologic analysis and therapeutic results in 116 cases. ( 12193899 )
2002
41
Actinic prurigo: a retrospective analysis of 21 cases referred to an Australian photobiology clinic. ( 11982570 )
2002
42
Lymphocyte subtypes and adhesion molecules in actinic prurigo: observations with cyclosporin A. ( 12010338 )
2002
43
Actinic prurigo: clinical features and HLA associations in a Canadian Inuit population. ( 11369906 )
2001
44
Caucasian actinic prurigo: 8 cases observed in France. ( 11167711 )
2001
45
A case of severe actinic prurigo successfully treated with thalidomide. ( 11488714 )
2001
46
Tumour necrosis factor alpha promoter polymorphism at position -308 is not associated with actinic prurigo. ( 11722460 )
2001
47
Effectors of inflammation in actinic prurigo. ( 11369907 )
2001
48
A candidate gene analysis of three related photosensitivity disorders: cutaneous lupus erythematosus, polymorphic light eruption and actinic prurigo. ( 11531784 )
2001
49
Long-term thalidomide for actinic prurigo. ( 11903163 )
2001
50
Use of topical cyclosporin for conjunctival manifestations of actinic prurigo. ( 11124306 )
2000

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 top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 CD58 HLA-DRB1 ICAM1 ICAM3 IL13 IL1B
2
Show member pathways
13.46 CD2 ICAM1 IL13 IL1B ITGA4 ITGAL
3
Show member pathways
13.36 HLA-DRB1 ICAM1 ICAM3 ITGA4 ITGAL VCAM1
4
Show member pathways
13.33 CD2 IL13 IL1B ITGA4 ITGAL TNF
5
Show member pathways
13.27 HLA-DRB1 ICAM1 IL13 IL1B TNF VCAM1
6
Show member pathways
12.83 HLA-DRB1 ICAM1 IL13 IL1B ITGA4 ITGAL
7
Show member pathways
12.74 HLA-DRB1 ICAM1 IL13 IL1B TNF
8
Show member pathways
12.7 ICAM1 ICAM3 ITGA4 ITGAL VCAM1
9
Show member pathways
12.58 ICAM1 ITGA4 ITGAL VCAM1
10
Show member pathways
12.53 HLA-DRB1 IL13 IL1B TNF
11 12.5 CD2 IL1B TNF VCAM1
12 12.4 HLA-DRB1 ICAM1 ITGAL TNF VCAM1
13 12.29 CD58 HLA-DRB1 ICAM1 ITGAL TNF
14
Show member pathways
12.23 HLA-DRB1 IL1B ITGA4 TNF
15
Show member pathways
12.23 CD2 CD58 ITGA4 ITGAL SELE
16
Show member pathways
12.17 ICAM1 IL1B ITGA4 ITGAL VCAM1
17
Show member pathways
12.13 ICAM1 ICAM3 ITGA4 ITGAL VCAM1
18 12.1 IL13 IL1B TNF
19 12.08 ICAM1 IL1B SELE TNF VCAM1
20 12.05 ICAM1 ICAM3 ITGA4 ITGAL VCAM1
21
Show member pathways
12 CD2 ICAM1 IL13 IL1B
22 11.99 CD2 CD69 ITGAL TNF
23
Show member pathways
11.98 IL13 IL1B TNF
24 11.97 ICAM1 IL13 IL1B TNF VCAM1
25 11.96 ICAM1 ITGA4 VCAM1
26
Show member pathways
11.96 IL13 IL1B ITGA4
27 11.95 ICAM1 IL1B TNF
28 11.93 ICAM1 IL1B SELE TNF VCAM1
29 11.88 ICAM1 IL1B TNF VCAM1
30 11.85 ICAM1 IL1B SELE TNF VCAM1
31 11.82 CD2 HLA-DRB1 IL1B ITGA4 TNF
32 11.8 IL13 IL1B ITGA4 TNF
33 11.77 ICAM1 IL13 SELE
34 11.76 HLA-DRB1 ICAM1 IL1B ITGAL TNF
35 11.7 IL13 IL1B TNF
36 11.64 IL13 IL1B TNF
37 11.59 HLA-DRB1 ICAM1 ITGAL
38
Show member pathways
11.57 ICAM1 IL1B SELE TNF VCAM1
39 11.56 ICAM1 IL13 IL1B TNF
40 11.47 ICAM1 SELE VCAM1
41
Show member pathways
11.46 ITGA4 ITGAL VCAM1
42 11.43 CD2 CD58 HLA-DRB1 ICAM1 ICAM3 ITGA4
43 11.31 IL13 IL1B TNF
44 11.3 ICAM1 ICAM3 ITGA4 ITGAL VCAM1
45 11.24 HLA-DRB1 IL13 IL1B TNF
46 11.18 CD2 IL13 IL1B TNF
47 11.14 IL1B TNF VCAM1
48 11.12 ICAM1 IL1B ITGAL SELE TNF VCAM1
49 11.11 ICAM1 IL1B
50 11.1 ICAM1 IL1B SELE TNF VCAM1

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 extracellular exosome GO:0070062 9.86 CD58 HLA-DRB1 ICAM1 ICAM3 IL1B ITGA4
2 integral component of plasma membrane GO:0005887 9.76 CD2 CD58 CD69 ICAM1 ICAM3 SELE
3 external side of plasma membrane GO:0009897 9.5 CD2 CD69 HLA-DRB1 ICAM1 IL13 TNF
4 cell surface GO:0009986 9.28 CD2 CD58 CD69 HLA-DRB1 ICAM1 ITGA4
5 plasma membrane GO:0005886 10.07 CD2 CD58 HLA-DRB1 ICAM1 ICAM3 ITGA4
6 integral component of membrane GO:0016021 10.06 CD2 CD58 CD69 HLA-DRB1 ICAM1 ICAM3

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 CD2 ICAM1 ICAM3 ITGA4 ITGAL SELE
2 inflammatory response GO:0006954 9.92 IL13 IL1B ITGAL SELE TNF
3 cytokine-mediated signaling pathway GO:0019221 9.88 ICAM1 IL13 IL1B TNF VCAM1
4 cellular response to lipopolysaccharide GO:0071222 9.85 ICAM1 IL1B TNF
5 regulation of immune response GO:0050776 9.85 ICAM1 ICAM3 ITGA4 ITGAL VCAM1
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.84 ICAM1 IL1B TNF
7 cellular response to tumor necrosis factor GO:0071356 9.83 CD58 ICAM1 VCAM1
8 response to lipopolysaccharide GO:0032496 9.83 ICAM1 IL13 IL1B SELE VCAM1
9 cell-matrix adhesion GO:0007160 9.8 ITGA4 ITGAL VCAM1
10 response to ethanol GO:0045471 9.8 ICAM1 IL13 IL1B VCAM1
11 extracellular matrix organization GO:0030198 9.8 ICAM1 ICAM3 ITGA4 ITGAL TNF VCAM1
12 interferon-gamma-mediated signaling pathway GO:0060333 9.79 HLA-DRB1 ICAM1 VCAM1
13 positive regulation of nitric oxide biosynthetic process GO:0045429 9.73 ICAM1 IL1B TNF
14 heterotypic cell-cell adhesion GO:0034113 9.69 CD2 CD58 ITGA4
15 negative regulation of neurogenesis GO:0050768 9.67 IL1B TNF
16 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.67 ICAM1 ITGAL SELE VCAM1
17 microglial cell activation GO:0001774 9.66 IL13 TNF
18 negative regulation of lipid catabolic process GO:0050995 9.65 IL1B TNF
19 positive regulation of glial cell proliferation GO:0060252 9.65 IL1B TNF
20 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.65 IL1B TNF
21 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.64 IL1B TNF
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.64 IL1B TNF
23 positive regulation of interleukin-8 secretion GO:2000484 9.63 CD2 CD58
24 cell-cell adhesion GO:0098609 9.63 CD2 CD58 ICAM1 ICAM3 ITGAL VCAM1
25 positive regulation of chemokine biosynthetic process GO:0045080 9.62 IL1B TNF
26 regulation of establishment of endothelial barrier GO:1903140 9.61 IL1B TNF
27 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.61 ICAM1 TNF
28 positive regulation of neuroinflammatory response GO:0150078 9.6 IL1B TNF
29 membrane to membrane docking GO:0022614 9.59 ICAM1 VCAM1
30 positive regulation of fever generation GO:0031622 9.58 IL1B TNF
31 chronic inflammatory response to antigenic stimulus GO:0002439 9.58 IL1B TNF
32 sequestering of triglyceride GO:0030730 9.57 IL1B TNF
33 leukocyte tethering or rolling GO:0050901 9.56 ITGA4 SELE TNF VCAM1
34 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.55 IL1B TNF
35 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 9.54 ICAM1 ITGAL
36 leukocyte cell-cell adhesion GO:0007159 9.35 ICAM1 ITGA4 ITGAL SELE VCAM1
37 leukocyte migration GO:0050900 9.23 CD2 CD58 ICAM1 IL1B ITGA4 ITGAL

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 ITGA4 ITGAL VCAM1
2 integrin binding GO:0005178 8.92 ICAM1 ICAM3 IL1B VCAM1

Sources for Actinic Prurigo

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
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49 NCI
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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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