eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	lymphomatoid papulosis

Disease ID	718
Disease	lymphomatoid papulosis
Definition	Clinically benign, histologically malignant, recurrent cutaneous T-cell lymphoproliferative disorder characterized by an infiltration of large atypical cells surrounded by inflammatory cells. The atypical cells resemble REED-STERNBERG CELLS of HODGKIN DISEASE or the malignant cells of CUTANEOUS T-CELL LYMPHOMA. In some cases, lymphomatoid papulosis progresses to lymphomatous conditions including MYCOSIS FUNGOIDES; HODGKIN DISEASE; CUTANEOUS T-CELL LYMPHOMA; or ANAPLASTIC LARGE-CELL LYMPHOMA.
Synonym	lymphomatoid papuloses lymphomatoid papulosis (disorder) lymphomatoid papulosis (morphologic abnormality) lymphomatoid papulosis [disease/finding] lyp papuloses, lymphomatoid papulosis, lymphomatoid
Orphanet	ORPHANET:98842
OMIM	OMIM:600716
UMLS	C0206182
MeSH	D017731
SNOMED-CT	SNOMEDCT_US_2016_09_01:31047003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0024299 \| lymphoma \| 2 C0026946 \| mycosis \| 2 C0026948 \| mycosis fungoides \| 2 C0267572 \| ulcerative proctitis \| 1 C0024314 \| lymphoproliferative disorders \| 1 C0033246 \| proctitis \| 1 C0206180 \| anaplastic large cell lymphoma \| 1 C0024314 \| lymphoproliferative disorder \| 1 C0079731 \| b-cell lymphoma \| 1 C0024302 \| large cell lymphoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 26191 \| PTPN22 \| OMIM 7297 \| TYK2 \| ORPHANET 4869 \| NPM1 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) TYK2 \| 19p13.2 NPM1 \| 5q35.1

Disease ID	718
Disease	lymphomatoid papulosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002665 \| Lymphoma \| 2 HP:0012190 \| T cell lymphoma \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0005523 \| Lymphoproliferative disorder \| 1

Disease ID	718
Disease	lymphomatoid papulosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C1540912 \| hypereosinophilic syndrome C1336829 \| tuberculum sellae meningioma C0426768 \| o sign C0037285 \| skin manifestations C0037284 \| skin lesions C0035328 \| retinal vein occlusion C0026948 \| mycosis fungoides C0024299 \| lymphomas C0004779 \| nevoid basal cell carcinoma syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0026948 \| mycosis fungoides \| 2

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:10)
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
1	114356663	rs3811021	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000429398,ENSG00000231128	ENST00000418238,ENSG00000231128	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000469077,ENSG00000134242	ENST00000532224,ENSG00000134242	NA	NA	NA	NA	Barhl2_3868,8.8571	Barx1_2877,17.822	Barx2_3447,28.4272	Homez_1063,80.3277	Hoxa13_3126,1.3035	hsa-miR-548ad,-0.189000	NA	NA	NA	NA	NA	0.003	-0.058	-0.896	F0	A	NA	NA	NA	NA	NA
1	114357750	rs1217413	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000429398,ENSG00000231128	ENST00000418238,ENSG00000231128	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000469077,ENSG00000134242	ENST00000532224,ENSG00000134242	NA	NA	NA	NA	LM31,1.5273	LM77,1.2766	LM102,1.757	LM172,3.8332	ACTAYRNNNCCCR,3.3842	NA	NA	NA	NA	NA	NA	0.000	-1.620	-8.81	F0	A	NA	NA	NA	0.710	0.400
1	114374435	rs1217395	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	NA	NA	chr1,114370001,114380000,chr1,53330001,53340000,4,Hi-C	NA	LM11,2.0154	LM12,2.1486	LM62,4.4815	LM89,13.9838	LM192,1.8438	NA	NA	NA	NA	NA	NA	0.001	0.010	-0.0424	R2	T	NA	NA	NA	NA	NA	NA
1	114377568	rs2476601	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	ENST00000484147,ENSG00000134242	ENST00000354605,ENSG00000134242	TFP.STAT3	MCV-7	NA	chr1,114370001,114380000,chr1,53330001,53340000,4,Hi-C	NA	Cbf1-primary,6.1413	Cbf1-primary,1.6485	Ecm22-primary,5.6695	Hal9-primary,4.2437	Hal9-primary,4.2437	NA	NA	NA	PTPN22,A,T,W,R,0,0,0.999963,0.000022	PTPN22,A,G,W,R,0,0,0.999963,0.000021	PTPN22,A,C,W,G,0.254932,0.47,0.999963,0.000084	PTPN22,A,T,W,R,0,0,0.999963,0.000022	PTPN22,A,G,W,R,0,0,0.999963,0.000021	PTPN22,A,C,W,G,0.254932,0.47,0.999963,0.000084	NA	NM_012411,TypeII+,CGG->TGG,R->W,2.125	NM_015967,TypeII-,TGG->CGG,W->R,2.125	NM_015967,TypeIII+,TGG->CGG,W->R,4.167	NM_015967,TypeIII+,TGG->CGG,W->R,3.383
1	114380886	rs138092829	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	ENST00000484147,ENSG00000134242	ENST00000354605,ENSG00000134242	TFP.MAFK	MCV-1	NA	NA	NA	NA	NA	NA	NA	PTPN22,T,G,D,A,0.127,0.92,0.815028,0.011853	PTPN22,T,C,D,G,0.063,0.72,0.815028,0.009318	PTPN22,T,A,D,V,0.206,0.99,0.815028,0.046439	PTPN22,T,G,D,A,0.127,0.92,0.815028,0.011853	PTPN22,T,C,D,G,0.063,0.72,0.815028,0.009318	PTPN22,T,A,D,V,0.206,0.99,0.815028,0.046439	NA	NA	0.982	3.100	5.82	GM0	T	NA	NA
1	114393748	rs1217407	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	ENST00000484147,ENSG00000134242	ENST00000354605,ENSG00000134242	NA	NA	chr1,114390001,114400000,chr1,121140001,121150000,28,Hi-C	chr1,114390001,114400000,chr7,76090001,76100000,18,Hi-C	NA	Barhl1_2590,1.3694	Barhl2_3868,2.4829	Cup9-primary,8.9507	Six2_2307,2.372	Six3_1732,1.8663	NA	NA	NA	NA	NA	NA	0.000	0.236	0.997	TF1	A	NA	NA	NA
1	114396816	rs1217410	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	ENST00000484147,ENSG00000134242	ENST00000354605,ENSG00000134242	NA	NA	chr1,114390001,114400000,chr1,121140001,121150000,28,Hi-C	chr1,114390001,114400000,chr7,76090001,76100000,18,Hi-C	NA	LM202,3.1286	LM202,1.4792	IRF1,1.2821	REST,2.7199	NA	NA	NA	NA	NA	NA	0.080	0.172	0.149	H3K9me1	T	NA	NA	NA	NA
1	114397799	rs3789609	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	ENST00000484147,ENSG00000134242	ENST00000354605,ENSG00000134242	NA	NA	chr1,114390001,114400000,chr1,121140001,121150000,28,Hi-C	chr1,114390001,114400000,chr7,76090001,76100000,18,Hi-C	NA	LM49,1.2771	LM155,1.3593	TGACCTTG,4.6861	p53,1.4841	CdxA,2.0979	NA	NA	NA	NA	NA	NA	0.001	-1.936	-0.451	R1	C	NA	NA	NA
1	114401231	rs1217418	NR_037864,LOC100287722	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000419536,ENSG00000226167	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	ENST00000484147,ENSG00000134242	ENST00000354605,ENSG00000134242	ENST00000534519,ENSG00000134242	ENST00000529045,ENSG00000134242	TFP.SPI1	TFP.RAD21	MCV-7	NA	chr1,114400001,114410000,chr1,116740001,116750000,6,Hi-C	NA	Asg1-DBD-primary,1.5003	Crx_3485,1.7937	Dobox4_3956,4.8873	Dobox4_3956,1.3705	Gln3-primary,3.0747	NA	NA	NA	NA	NA	NA	0.000	-0.074	-4.71
1	114401782	rs79241487	NR_037864,LOC100287722	NM_001193431,PTPN22	NM_015967,PTPN22	NM_012411,PTPN22	ENST00000419536,ENSG00000226167	ENST00000359785,ENSG00000134242	ENST00000460620,ENSG00000134242	ENST00000528414,ENSG00000134242	ENST00000532224,ENSG00000134242	ENST00000420377,ENSG00000134242	ENST00000525799,ENSG00000134242	ENST00000484147,ENSG00000134242	ENST00000354605,ENSG00000134242	ENST00000534519,ENSG00000134242	ENST00000529045,ENSG00000134242	TFP.MAFK	TFP.MAFF	NA	chr1,114400001,114410000,chr1,116740001,116750000,6,Hi-C	NA	Emx2_3420,1.5363	Evx1_3952,3.004	Hoxa3_2783,1.5282	Ipf1_3815,1.2704	Lhx2_0953,1.6321	NA	NA	NA	NA	NA	NA	0.000	0.131	-1.71	GM0

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	718
Disease	lymphomatoid papulosis
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter