eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pityriasis rubra pilaris | ||||
| Disease ID | 7 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0032027 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0041296 | tuberculosis | 1 C0003864 | arthritis | 1 C0020676 | hypothyroidism | 1 C0684249 | carcinoma of the lung | 1 C0036421 | systemic sclerosis | 1 C0152013 | adenocarcinoma of the lung | 1 C0011633 | dermatomyositis | 1 C0013592 | ectropion | 1 C1258104 | diffuse cutaneous systemic sclerosis | 1 C0037274 | skin diseases | 1 C0017665 | membranous nephropathy | 1 C0037274 | skin disease | 1 C0042769 | virus infection | 1 C0011603 | dermatitis | 1 C0003873 | rheumatoid arthritis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 488 | ATP2A2 | 3.412 | DISEASES 84433 | CARD11 | 2.388 | DISEASES 79092 | CARD14 | 6.57 | DISEASES 1041 | CDSN | 2.289 | DISEASES 387836 | CLEC2A | 2.646 | DISEASES 2312 | FLG | 1.372 | DISEASES 3107 | HLA-C | 2.639 | DISEASES 112744 | IL17F | 1.684 | DISEASES 3683 | ITGAL | 1.435 | DISEASES 3713 | IVL | 3.026 | DISEASES 25818 | KLK5 | 2.555 | DISEASES 100885779 | LINC-ROR | 2.103 | DISEASES 8559 | PRPF18 | 4.434 | DISEASES 23451 | SF3B1 | 3.365 | DISEASES 6520 | SLC3A2 | 1.968 | DISEASES 11005 | SPINK5 | 2.177 | DISEASES 7124 | TNF | 2.657 | DISEASES 7133 | TNFRSF1B | 3.739 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) CARD14 | 17q25.3 |
| Disease ID | 7 |
|---|---|
| Disease | pityriasis rubra pilaris |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0200039 | Pustule HP:0001597 | Abnormality of the nail HP:0002664 | Neoplasm HP:0008392 | Subungual hyperkeratosis HP:0000163 | Abnormality of the oral cavity HP:0007400 | Irregular hyperpigmentation HP:0001019 | Erythroderma HP:0200034 | Papule HP:0001072 | Thickened skin HP:0000989 | Pruritus HP:0000964 | Eczema HP:0100725 | Lichenification HP:0000982 | Palmoplantar keratoderma HP:0008064 | Ichthyosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0012578 | Membranous glomerulonephritis | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0010783 | Erythema | 1 HP:0000821 | Underactive thyroid | 1 HP:0001369 | Arthritis | 1 HP:0000656 | Ectropion | 1 |
| Disease ID | 7 |
|---|---|
| Disease | pityriasis rubra pilaris |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008392 | Subungual hyperkeratosis | MP:0001242 | hyperkeratosis | thickening of the horny layer of the epidermis |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000163 | Abnormality of the oral cavity | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0007400 | Irregular hyperpigmentation | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0100725 | Lichenification | MP:0011939 | increased food intake | increase in the total number of calories/food amount taken in over time when compared to the normal state |
| HP:0001019 | Erythroderma | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000163 | Abnormality of the oral cavity | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008392 | Subungual hyperkeratosis | MP:0011940 | decreased food intake | reduction in the total number of calories/food amount taken in over time when compared to the normal state |
| HP:0200039 | Pustule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| Disease ID | 7 |
|---|---|
| Disease | pityriasis rubra pilaris |
| Case | (Waiting for update.) |