PedAM

Pediatric Disease Annotations & Medicines


	pityriasis rubra pilaris

Disease ID	5
Disease	pityriasis rubra pilaris
Definition	A chronic skin disease characterized by small follicular papules, disseminated reddish-brown scaly patches, and often, palmoplantar hyperkeratosis. The papules are about the size of a pin and topped by a horny plug.
Synonym	devergie's disease lichen ruber acuminatus pityriasis pilaris rubra pityriasis rubra pilaris (disorder) pityriasis rubra pilaris [disease/finding] prp prp - pityriasis rubra pilaris
Orphanet	ORPHANET:2897
OMIM	OMIM:173200 OMIM:176640
DOID	DOID:9212
ICD10	ICD10CM:L44.0
UMLS	C0032027
MeSH	D010916
SNOMED-CT	SNOMEDCT_US_2016_09_01:3755001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0036421 \| systemic sclerosis \| 1 C0037274 \| skin diseases \| 1 C0684249 \| carcinoma of the lung \| 1 C0042769 \| virus infection \| 1 C0003873 \| rheumatoid arthritis \| 1 C0152013 \| adenocarcinoma of the lung \| 1 C0011603 \| dermatitis \| 1 C0013592 \| ectropion \| 1 C0003864 \| arthritis \| 1 C0020676 \| hypothyroidism \| 1 C0037274 \| skin disease \| 1 C0011633 \| dermatomyositis \| 1 C0017665 \| membranous nephropathy \| 1 C0041296 \| tuberculosis \| 1 C1258104 \| diffuse cutaneous systemic sclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) PRNP \| 5621 \| OMIM CARD14 \| 79092 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 7051 \| TGM1 \| DISEASES 23581 \| CASP14 \| DISEASES 5947 \| RBP1 \| DISEASES 1509 \| CTSD \| DISEASES 26525 \| IL36RN \| DISEASES 3442 \| IFNA5 \| DISEASES 642 \| BLMH \| DISEASES 939 \| CD27 \| DISEASES 5141 \| PDE4A \| DISEASES 9607 \| CARTPT \| DISEASES 1381 \| CRABP1 \| DISEASES 3868 \| KRT16 \| DISEASES 255239 \| ANKK1 \| DISEASES 56246 \| MRAP \| DISEASES 924 \| CD7 \| DISEASES 51268 \| PIPOX \| DISEASES 23451 \| SF3B1 \| DISEASES 112744 \| IL17F \| DISEASES 25818 \| KLK5 \| DISEASES 79092 \| CARD14 \| DISEASES 3683 \| ITGAL \| DISEASES 11005 \| SPINK5 \| DISEASES 3713 \| IVL \| DISEASES 2312 \| FLG \| DISEASES 3107 \| HLA-C \| DISEASES 7133 \| TNFRSF1B \| DISEASES 1041 \| CDSN \| DISEASES 6520 \| SLC3A2 \| DISEASES 8559 \| PRPF18 \| DISEASES 84433 \| CARD11 \| DISEASES 387836 \| CLEC2A \| DISEASES 7124 \| TNF \| DISEASES 488 \| ATP2A2 \| DISEASES 100885779 \| LINC-ROR \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CARD14 \| 17q25.3

Disease ID	5
Disease	pityriasis rubra pilaris
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:14) HP:0002664 \| Neoplasm HP:0001072 \| Thickened skin HP:0007400 \| Irregular hyperpigmentation HP:0008064 \| Ichthyosis HP:0200039 \| Pustule HP:0000982 \| Palmoplantar keratoderma HP:0000989 \| Pruritus HP:0000163 \| Abnormality of the oral cavity HP:0008392 \| Subungual hyperkeratosis HP:0001597 \| Abnormality of the nail HP:0200034 \| Papule HP:0100725 \| Lichenification HP:0000964 \| Eczema HP:0001019 \| Erythroderma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0001370 \| Rheumatoid arthritis \| 1 HP:0010783 \| Erythema \| 1 HP:0001369 \| Arthritis \| 1 HP:0000656 \| Ectropion \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0000821 \| Underactive thyroid \| 1

Disease ID	5
Disease	pityriasis rubra pilaris
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C1562901 \| peripheral ulcerative keratitis C1547219 \| basal cell carcinoma C0302858 \| protein-losing gastroenteropathy C0022504 \| kaposi's varicelliform eruption C0011606 \| erythroderma C0007137 \| squamous cell carcinomas C0007117 \| basal cell carcinomas
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0022504 \| kaposi's varicelliform eruption \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs387907240	NA	79092	CARD14	umls:C0032027	CLINVAR	NA	0.360542884	NA	CARD14	17	80184030	T	C

GWASdb Annotation(Total Genotypes:4)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
20	4672759	rs6084833	NM_000311,PRNP	NM_001080121,PRNP	NM_001080122,PRNP	NM_183079,PRNP	NM_001080123,PRNP	ENST00000455665,ENSG00000171867	ENST00000420824,ENSG00000171867	ENST00000531860,ENSG00000171867	ENST00000379440,ENSG00000171867	ENST00000525336,ENSG00000171867	ENST00000430350,ENSG00000171867	ENST00000444805,ENSG00000171867	ENST00000424424,ENSG00000171867	ENST00000379436,ENSG00000171867	ENST00000457586,ENSG00000171867	TFP.FOXA2	TFP.TCF4	TFP.FOXA1	NA	NA	NA	Fkh1-FL-primary,1.7997	Hmx1_3423,1.3014	Hmx2_3424,4.9234	Hmx3_3490,3.6955	Otx1_2325,1.4524	NA	NA	NA	NA	NA	NA	0.000	-0.711	-2.76
20	4677092	rs6107516	NM_000311,PRNP	NM_001080121,PRNP	NM_001080122,PRNP	NM_183079,PRNP	NM_001080123,PRNP	ENST00000455665,ENSG00000171867	ENST00000420824,ENSG00000171867	ENST00000531860,ENSG00000171867	ENST00000379440,ENSG00000171867	ENST00000525336,ENSG00000171867	ENST00000430350,ENSG00000171867	ENST00000444805,ENSG00000171867	ENST00000424424,ENSG00000171867	ENST00000379436,ENSG00000171867	ENST00000457586,ENSG00000171867	NA	NA	NA	NA	Cep3-primary,1.3418	Tec1-primary,2.6226	Xbp1-FL-primary,1.8936	Yap1-primary,1.2928	Yap6-primary,3.44	NA	NA	NA	NA	NA	NA	0.000	-0.086	-0.416	TF2	G
20	4679519	rs11087653	NM_000311,PRNP	NM_001080121,PRNP	NM_001080122,PRNP	NM_183079,PRNP	NM_001080123,PRNP	ENST00000455665,ENSG00000171867	ENST00000420824,ENSG00000171867	ENST00000531860,ENSG00000171867	ENST00000379440,ENSG00000171867	ENST00000525336,ENSG00000171867	ENST00000430350,ENSG00000171867	ENST00000444805,ENSG00000171867	ENST00000424424,ENSG00000171867	ENST00000379436,ENSG00000171867	ENST00000457586,ENSG00000171867	ENST00000431433,ENSG00000171867	NA	NA	NA	NA	Cdx1_2245,13.3106	Cdx2_4272,9.7115	Gsm1-FL-primary,1.5722	Hoxa10_2318,5.257	Hoxa13_3126,2.5685	NA	NA	NA	NA	NA	NA	0.000	0.106	0.349	H3K9me1
20	4680251	rs1799990	NM_000311,PRNP	NM_001080121,PRNP	NM_001080122,PRNP	NM_183079,PRNP	NM_001080123,PRNP	ENST00000455665,ENSG00000171867	ENST00000420824,ENSG00000171867	ENST00000531860,ENSG00000171867	ENST00000379440,ENSG00000171867	ENST00000525336,ENSG00000171867	ENST00000430350,ENSG00000171867	ENST00000444805,ENSG00000171867	ENST00000424424,ENSG00000171867	ENST00000379436,ENSG00000171867	ENST00000457586,ENSG00000171867	ENST00000431433,ENSG00000171867	NA	NA	chr20,4680001,4690000,chr6,169540001,169550000,5,Hi-C	chr20,4680001,4690000,chr5,25880001,25890000,6,Hi-C	NA	Aro80-primary,1.6562	Asg1-DBD-primary,2.1064	Cbf1-primary,10.0498	Ceh-22,3.4348	Hal9-primary,1.4089	NA	NA	NA	PRNP,A,C,M,L,0.01,0.93,0.999205,0.18924	PRNP,A,G,M,V,0.628,0.99,0.999205,0.231307	PRNP,A,T,M,L,0.01,0.93,0.999205,0.18924	NA	NM_000311,TypeII-,ATG->GTG,M->V,2.5	NM_001080121,TypeII-,ATG->GTG,M->V,2.5

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002671	Basal cell carcinoma	MP:0004207	increased squamous cell carcinoma incidence;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002671	Basal cell carcinoma	MP:0009873	abnormal aorta tunica media morphology;HP:0001019	Erythroderma

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0032027	methotrexate	D008727	1959/5/2	pityriasis rubra pilaris	MESH:D010916	therapeutic	5501901

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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