MCID: PTY003
MIFTS: 52

Pityriasis Rubra Pilaris malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pityriasis Rubra Pilaris

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 23Genetics Home Reference, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pityriasis Rubra Pilaris:

Name: Pityriasis Rubra Pilaris 49 10 11 45 22 12 51 67 36 24 65
Familial Pityriasis Rubra Pilaris 45 23 65
Prp 45 22 67
 
Pityriasis Rubra Pilaris--Familial Type 45
Devergie's Disease 10
Familial Prp 23

Characteristics:

Orphanet epidemiological data:

51
pityriasis rubra pilaris:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
pityriasis rubra pilaris:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 173200
Disease Ontology10 DOID:9212
ICD1027 L44.0
ICD9CM29 696.4
MeSH36 D010916
NCIt42 C85014
SNOMED-CT59 3755001
Orphanet51 2897
ICD10 via Orphanet28 L44.0
MESH via Orphanet37 D010916
UMLS via Orphanet66 C0032027
MedGen34 C0032027
UMLS65 C0032027, C2930842

Summaries for Pityriasis Rubra Pilaris

About this section
OMIM:49 Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules,... (173200) more...

MalaCards based summary: Pityriasis Rubra Pilaris, also known as familial pityriasis rubra pilaris, is related to mitochondrial encephalomyopathy and prp systemic amyloidosis, and has symptoms including irregular hyperpigmentation, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14), and among its related pathways are Transcription_NF-kB signaling pathway and Cellular Transformation by HTLV1. Affiliated tissues include skin, breast and thyroid, and related mouse phenotypes are respiratory system and integument.

NIH Rare Diseases:45 Pityriasis rubra pilaris (prp) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. there are several types of prp, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. prp is usually sporadic (occurring randomly) but some forms may be inherited. last updated: 3/10/2014

UniProtKB/Swiss-Prot:67 Pityriasis rubra pilaris: A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema.

Genetics Home Reference:23 Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.

Wikipedia:68 Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...

Related Diseases for Pityriasis Rubra Pilaris

About this section

Graphical network of the top 20 diseases related to Pityriasis Rubra Pilaris:



Diseases related to pityriasis rubra pilaris

Symptoms for Pityriasis Rubra Pilaris

About this section

Symptoms by clinical synopsis from OMIM:

173200

Clinical features from OMIM:

173200

Symptoms:

 51 (show all 14)
  • palmoplantar hyperkeratosis/keratoderma
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • irregular/in bands/reticular skin hyperpigmentation
  • pruritus/itching
  • thick skin/pachydermia/orange skin
  • nails anomalies
  • dysplastic/thick/grooved fingernails
  • anomalies of tongue, gingiva and oral mucosa
  • ichthyosis/ichthyosiform dermatitis
  • eczema
  • lichen
  • pustula/pustulosis
  • neoplasms/tumors

HPO human phenotypes related to Pityriasis Rubra Pilaris:

(show all 12)
id Description Frequency HPO Source Accession
1 irregular hyperpigmentation hallmark (90%) HP:0007400
2 palmoplantar keratoderma hallmark (90%) HP:0000982
3 abnormality of the fingernails typical (50%) HP:0001231
4 pruritus typical (50%) HP:0000989
5 pustule occasional (7.5%) HP:0200039
6 lichenification occasional (7.5%) HP:0100725
7 ichthyosis occasional (7.5%) HP:0008064
8 neoplasm occasional (7.5%) HP:0002664
9 eczema occasional (7.5%) HP:0000964
10 abnormality of the oral cavity occasional (7.5%) HP:0000163
11 subungual hyperkeratosis HP:0008392
12 palmoplantar keratoderma HP:0000982

Drugs & Therapeutics for Pityriasis Rubra Pilaris

About this section

Drugs for Pityriasis Rubra Pilaris (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunosuppressive AgentsPhase 410422
2Dermatologic AgentsPhase 44555

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Pilot Study of Alefacept for the Treatment of Pityriasis Rubra PilarisTerminatedNCT00815633Phase 4

Search NIH Clinical Center for Pityriasis Rubra Pilaris


Cochrane evidence based reviews: pityriasis rubra pilaris

Genetic Tests for Pityriasis Rubra Pilaris

About this section

Genetic tests related to Pityriasis Rubra Pilaris:

id Genetic test Affiliating Genes
1 Pityriasis Rubra Pilaris22 CARD14

Anatomical Context for Pityriasis Rubra Pilaris

About this section

MalaCards organs/tissues related to Pityriasis Rubra Pilaris:

33
Skin, Breast, Thyroid, Tongue, Prostate, Lung, Bone

Animal Models for Pityriasis Rubra Pilaris or affiliated genes

About this section

MGI Mouse Phenotypes related to Pityriasis Rubra Pilaris:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.6ATP2A2, CARD11, SLURP1, TNF, TNFRSF1B
2MP:00107717.0ATP2A2, BLMH, CARD11, IL36RN, SLURP1, TNF
3MP:00053766.3ABCB6, ATP2A2, BLMH, CARD11, IL36RN, PTDSS1

Publications for Pityriasis Rubra Pilaris

About this section

Articles related to Pityriasis Rubra Pilaris:

(show top 50)    (show all 381)
idTitleAuthorsYear
1
&quot;Hockey Stick&quot; may Strike Back: Hepatocellular Carcinoma on Noncirrhotic Liver as a Late Toxicity of Lombo-Aortic Radiotherapy for Seminoma. A Review Triggered by an Unusual Case. (27194897)
2016
2
Redox regulation of Rac1 by thiol oxidation. (25289457)
2015
3
Mucin levels in saliva of adolescents with dental caries. (24441930)
2014
4
Epidemiology of undiagnosed trichomoniasis in a probability sample of urban young adults. (24626058)
2014
5
Neurotransmitter release in motor nerve terminals of a mouse model of mild spinal muscular atrophy. (23489475)
2014
6
Ischemic retinopathy and neovascular proliferation secondary to severe head injury. (25143848)
2014
7
Echocardiography in mitral valve disease. Preface. (23743080)
2013
8
Commentary on: Implications of thyroglobulin antibody positivity in patients with differentiated thyroid cancer: a clinical position statement. (23987661)
2013
9
Relationship between PTEN, DNA mismatch repair, and tumor histotype in endometrial carcinoma: retained positive expression of PTEN preferentially identifies sporadic non-endometrioid carcinomas. (23599155)
2013
10
Chemical mutagenesis of vaccinia DNA topoisomerase lysine 167 provides insights to the catalysis of DNA transesterification. (23317114)
2013
11
Om Prakash Sharma, MD, FRCP, FCCP - 4 July 1936 - 19 August 2012. Internationally acclaimed specialist in sarcoidosis. (24284301)
2013
12
Complete somatostatin-induced insulin suppression combined with heparin loading does not significantly suppress myocardial 18F-FDG uptake in patients with suspected cardiac sarcoidosis. (24132814)
2013
13
The relationship between postmenopausal osteoporosis and periodontal disease. (24357562)
2013
14
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. (22504268)
2012
15
Heat shock protein 10 of Chlamydophila pneumoniae induces proinflammatory cytokines through Toll-like receptor (TLR) 2 and TLR4 in human monocytes THP-1. (21789730)
2011
16
Alanine aminotransferase is an inadequate surrogate marker for detecting lamivudine resistance. (20872970)
2010
17
Source category-specific PM2.5 and urinary levels of Clara cell protein CC16. The ULTRA study. (19852548)
2009
18
Neurological findings and outcome in adult cerebral malaria. (19637540)
2009
19
Ethnic and genetic determinants of cardiovascular response to the selective alpha 2-adrenoceptor agonist dexmedetomidine. (18071056)
2008
20
Plasticity of ovarian cancer cell SKOV3ip and vasculogenic mimicry in vivo. (17645504)
2008
21
A splicing isoform of LPP1, LPP1a, exhibits high phosphatase activity toward FTY720 phosphate. (18755152)
2008
22
A nonradioisotope, enzymatic assay for 2-deoxyglucose uptake in L6 skeletal muscle cells cultured in a 96-well microplate. (16442489)
2006
23
Transient reduction of PTI-1 expression by short interfering RNAs inhibits the growth of human prostate cancer cell lines. (16707856)
2006
24
Molecular characterization of soluble factors from human menstrual effluent that induce epithelial to mesenchymal transitions in mesothelial cells. (16082522)
2005
25
Mild to moderate muscular symptoms with high-dosage statin therapy in hyperlipidemic patients--the PRIMO study. (16453090)
2005
26
The FcgammaRIIa polymorphism in children with atopic diseases. (14976391)
2004
27
Neuro-BehAset's disease (isolated cerebral thrombophlebitis excluded). Clinical pattern, prognostic factors, treatment and long term follow-up. (12918726)
2003
28
Identification of a novel variant of the human NR2B gene promoter region and its possible association with schizophrenia. (12476325)
2002
29
Ventilatory defect in coal workers with simple pneumoconiosis: early detection of functional abnormalities. (11517863)
2001
30
Primary cardiac lipoblastoma. (11370265)
2001
31
Signaling of transforming growth factor-beta family members through Smad proteins. (11106403)
2000
32
A child with adrenocortical adenoma accompanied by congenital hemihypertrophy: report of a case. (11039721)
2000
33
Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene. (10876089)
2000
34
Juvenile rheumatoid arthritis in a Canadian First Nations (aboriginal) population: onset subtypes and HLA associations. (9558186)
1998
35
Cloning and characterization of a third human lysyl hydroxylase isoform. (9724729)
1998
36
Characterization and partial purification of a novel 36 kDa peripheral myelin protein recognized by the sera of patients with neurological disorders. (9846814)
1998
37
Diagnostic validity of bone metabolic markers for bone metastasis. (9466334)
1997
38
Molecular cloning of cDNA and genomic DNA for human 25-hydroxyvitamin D3 1 alpha-hydroxylase. (9344864)
1997
39
Stimulation and inhibition of nitric oxide production in macrophages and neural cells as observed by spin trapping. (8958124)
1997
40
Cholecystokinin-A and cholecystokinin-B/gastrin receptor mRNA expression in the gastrointestinal tract and pancreas of the rat and man. A polymerase chain reaction study. (8726308)
1996
41
The B isoform of the insulin receptor signals more efficiently than the A isoform in HepG2 cells. (7657666)
1995
42
Intrathyroid salivary gland-type tissue in multinodular goiter. (7812521)
1994
43
Etiology of neonatal jaundice at Shimla. (7875794)
1994
44
The Vannini-Rizzoli orthosis: a unique case of thoracic outlet syndrome. (8466429)
1993
45
Neurocalcin family: a novel calcium-binding protein abundant in bovine central nervous system. (8387172)
1993
46
Single agent activity of carboplatin in patients with previously untreated non-seminomatous germ cell tumours. (1376619)
1992
47
LFA-1 defect: a rare granulocyte function disorders as a cause of therapy-resistant omphalitis in newborn infants]. (1922120)
1991
48
Isolation and autolysis of human meizothrombin in the presence of dansylarginine-N-(3-ethyl-1,5-pentanediyl)amide. (1893062)
1991
49
Heterogeneity in mucolipidosis II (I-cell disease). (6839528)
1983
50
Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD). (5514400)
1970

Variations for Pityriasis Rubra Pilaris

About this section

UniProtKB/Swiss-Prot genetic disease variations for Pityriasis Rubra Pilaris:

67
id Symbol AA change Variation ID SNP ID
1CARD14p.Leu156ProVAR_068820

Clinvar genetic disease variations for Pityriasis Rubra Pilaris:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CARD14NM_024110.4(CARD14): c.467T> C (p.Leu156Pro)single nucleotide variantPathogenicrs387907240GRCh37Chr 17, 78157829: 78157829
2CARD14CARD14, 3-BP DEL, 412GAGdeletionPathogenic
3CARD14CARD14, IVS3, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Pityriasis Rubra Pilaris

About this section
Search GEO for disease gene expression data for Pityriasis Rubra Pilaris.

Pathways for genes affiliated with Pityriasis Rubra Pilaris

About this section

GO Terms for genes affiliated with Pityriasis Rubra Pilaris

About this section

Biological processes related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of interleukin-6 productionGO:00327159.9IL36RN, TNF
2intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6TNF, TNFRSF1B
3extrinsic apoptotic signaling pathwayGO:00971919.6TNF, TNFRSF1B
4positive regulation of cytokine productionGO:00018199.4CARD11, TNF
5positive regulation of NF-kappaB transcription factor activityGO:00510928.8CARD11, CARD14, TNF

Molecular functions related to Pityriasis Rubra Pilaris according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1CARD domain bindingGO:00507009.4CARD11, CARD14

Sources for Pityriasis Rubra Pilaris

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet