PedAM

Pediatric Disease Annotations & Medicines


	discoid lupus erythematosus

Disease ID	448
Disease	discoid lupus erythematosus
Definition	A chronic form of cutaneous lupus erythematosus (LUPUS ERYTHEMATOSUS, CUTANEOUS) in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur.
Synonym	cdle - chronic discoid lupus erythematosus chronic discoid lupus erythematosus chronic discoid lupus erythematosus (disorder) discoid lupus discoid lupus erythematosis discoid lupus erythematosus (disorder) discoid lupus erythematosus (disorder) [ambiguous] discoid lupus erythematosus (dle) dle dle - discoid lupus erythematosus le - discoid lupus erythematosus lupus discoid lupus erythematosis discoid lupus erythematosus, chronic cutaneous lupus erythematosus, cutaneous, chronic lupus erythematosus, discoid lupus erythematosus, discoid [disease/finding]
Orphanet	ORPHANET:90281
ICD10	ICD10CM:L93.0
UMLS	C0024138
MeSH	D008179
SNOMED-CT	SNOMEDCT_US_2016_09_01:238927000;SNOMEDCT_US_2016_09_01:200938002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0409974 \| lupus erythematosus \| 3 C0007137 \| squamous cell carcinoma \| 3 C0024141 \| systemic lupus erythematosus \| 3 C0027121 \| myositis \| 2 C0011644 \| scleroderma \| 2 C0024137 \| cutaneous lupus erythematosus \| 2 C0026896 \| myasthenia gravis \| 1 C0011615 \| atopic dermatitis \| 1 C0042900 \| vitiligo \| 1 C0015458 \| parry-romberg syndrome \| 1 C0013592 \| ectropion \| 1 C0019158 \| hepatitis \| 1 C0024299 \| lymphoma \| 1 C1527383 \| morphea \| 1 C0019196 \| hepatitis c \| 1 C0011603 \| dermatitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3123 \| HLA-DRB1 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	448
Disease	discoid lupus erythematosus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0002860 \| Squamous cell carcinoma \| 3 HP:0002725 \| Systemic lupus erythematosus \| 3 HP:0100324 \| Progressive systemic scleroderma \| 2 HP:0100614 \| Muscle inflammation \| 2 HP:0012115 \| Liver inflammation \| 1 HP:0030731 \| Carcinoma \| 1 HP:0002665 \| Lymphoma \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0001045 \| Blotchy loss of skin color \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0012344 \| Morphea \| 1 HP:0000656 \| Ectropion \| 1 HP:0100699 \| Scarring \| 1 HP:0100578 \| Lipoatrophy \| 1 HP:0000963 \| Thin skin \| 1

Disease ID	448
Disease	discoid lupus erythematosus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:16) C2242539 \| subcutaneous infection C1318020 \| stromal keratitis C0751688 \| squamous cell cancer C0748540 \| limited cutaneous systemic sclerosis C0334166 \| pseudo-ainhum C0162855 \| mucinosis C0162835 \| depigmentation C0086873 \| scarring alopecia C0043037 \| verrucous lesion C0037284 \| skin lesions C0027813 \| peripheral neuritis C0022572 \| keratoacanthoma C0022081 \| iritis C0018923 \| malignant hemangioendothelioma C0007137 \| squamous cell carcinoma C0006664 \| calcinosis cutis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0007137 \| squamous cell carcinoma \| 3 C0037284 \| skin lesions \| 1

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

All Snps(Total Genotypes:14)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10516487	21900951	55024	BANK1	umls:C0024138	BeFree	The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.	0.000542884	2012	BANK1	4	101829919	G	T,A
rs1143679	22586164	3684	ITGAM	umls:C0024138	BeFree	The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes.	0.002442977	2012	ITGAM	16	31265490	G	A
rs1143679	24608226	3684	ITGAM	umls:C0024138	BeFree	Combined protein- and nucleic acid-level effects of rs1143679 (R77H), a lupus-predisposing variant within ITGAM.	0.002442977	2015	ITGAM	16	31265490	G	A
rs1270942	21952918	3663	IRF5	umls:C0024138	BeFree	Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).	0.003800186	2012	CFB	6	31951083	A	G
rs13023380	23441136	4691	NCL	umls:C0024138	BeFree	DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.	0.000271442	2013	IFIH1	2	162297853	G	A
rs13023380	23441136	2547	XRCC6	umls:C0024138	BeFree	DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.	0.000542884	2013	IFIH1	2	162297853	G	A
rs2070197	21952918	3663	IRF5	umls:C0024138	BeFree	Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).	0.003800186	2012	IRF5	7	128948946	T	C
rs2476601	18759295	26191	PTPN22	umls:C0024138	BeFree	The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus.	0.003181358	2008	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	23359562	26191	PTPN22	umls:C0024138	BeFree	The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus.	0.003181358	2013	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	18759295	7124	TNF	umls:C0024138	BeFree	The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus.	0.010901282	2008	PTPN22;AP4B1-AS1	1	113834946	A	G
rs2476601	23359562	52	ACP1	umls:C0024138	BeFree	The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus.	0.000271442	2013	PTPN22;AP4B1-AS1	1	113834946	A	G
rs3131379	21952918	3663	IRF5	umls:C0024138	BeFree	Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively).	0.003800186	2012	MSH5;MSH5-SAPCD1	6	31753256	G	A
rs3813946	17360460	1380	CR2	umls:C0024138	BeFree	Single-nucleotide polymorphism 1 (rs3813946), located in the 5' untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus.	0.000814326	2007	CR2	1	207454348	T	C
rs72556554	21937424	11277	TREX1	umls:C0024138	BeFree	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.	0.001628651	2011	TREX1	3	48466996	G	A,C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

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.)

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0024138	chloroquine	D002738	1954/5/7	lupus erythematosus, discoid	MESH:D008179	therapeutic	10381062
C0024138	thalidomide	D013792	50-35-1	lupus erythematosus, discoid	MESH:D008179	therapeutic	10759967

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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