PedAM

Pediatric Disease Annotations & Medicines


	lichen sclerosus

Disease ID	216
Disease	lichen sclerosus
Definition	A chronic inflammatory mucocutaneous disease usually affecting the female genitalia (VULVAR LICHEN SCLEROSUS) and BALANITIS XEROTICA OBLITERANS in males. It is also called white spot disease and Csillag's disease.
Synonym	atrophicus lichens sclerosis lichen et atrophicus sclerosus lichen et sclerosus atrophicus lichen scleroses lichen sclerosis lichen sclerosis atrophicus lichen sclerosis et atrophicus lichen sclerosus et atrophicus lichen sclerosus et atrophicus (disorder) lichen sclerosus et atrophicus [disease/finding] lichen sclerosus et atrophicus, nos lichen sclerosus et atropicus lichens sclerosus lsa scleroses, lichen sclerosis, lichen sclerosus lichen sclerosus, lichen white spot disease
OMIM	OMIM:151590
ICD10	ICD10CM:L90.0
UMLS	C0023652
MeSH	D018459
SNOMED-CT	SNOMEDCT_US_2016_09_01:25674000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0007137 \| squamous cell carcinoma \| 4 C0041974 \| urethral stricture \| 3 C0021053 \| immune disease \| 2 C1527383 \| morphea \| 1 C0023646 \| lichen planus \| 1 C0030805 \| bullous pemphigoid \| 1 C0041408 \| turner syndrome \| 1 C0033953 \| sexual dysfunction \| 1 C0346054 \| verruciform xanthoma \| 1 C0206706 \| verrucous carcinoma \| 1 C0027960 \| naevus \| 1 C0030805 \| pemphigoid \| 1 C0019621 \| langerhans cell histiocytosis \| 1 C0031538 \| phimosis \| 1 C0025202 \| melanoma \| 1 C0019618 \| histiocytosis \| 1 C0853105 \| carcinoma of the penis \| 1 C0009806 \| constipation \| 1 C0006142 \| breast cancer \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3557 \| IL1RN \| infer 7124 \| TNF \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	216
Disease	lichen sclerosus
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0002860 \| Squamous cell carcinoma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0002860 \| Squamous cell carcinoma \| 4 HP:0002960 \| Autoimmune condition \| 3 HP:0012227 \| Urethral stricture \| 3 HP:0030731 \| Carcinoma \| 2 HP:0002861 \| Melanoma \| 1 HP:0001741 \| Phimosis \| 1 HP:0001371 \| Flexion contractures of joints \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0003764 \| Naevus \| 1 HP:0001036 \| Parakeratosis \| 1 HP:0012344 \| Morphea \| 1 HP:0002019 \| Dyschezia \| 1 HP:0100727 \| Histiocytosis \| 1 HP:0030418 \| Vulvar melanoma \| 1

Disease ID	216
Disease	lichen sclerosus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:21) C2632116 \| stenosis C2364133 \| infection C2186538 \| thyroid disease C1963274 \| vasculitis C1963139 \| hypopigmentation C0853105 \| carcinoma of the penis C0677055 \| vulvar carcinoma C0677055 \| carcinoma of the vulva C0553844 \| keratoconjunctivitis sicca C0346210 \| vulvar intraepithelial neoplasia C0344311 \| blistering eruption C0238348 \| squamous cell carcinoma of the penis C0221260 \| nail dystrophy C0041974 \| urethral stricture C0033860 \| psoriasis C0033778 \| pruritus vulvae C0025202 \| malignant melanoma C0021053 \| immune disorders C0021053 \| immune diseases C0013426 \| vulvar dystrophy C0007137 \| squamous cell carcinoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0007137 \| squamous cell carcinoma \| 4 C0041974 \| urethral stricture \| 3 C0009814 \| stenosis \| 2 C0021053 \| immune diseases \| 1 C0238348 \| squamous cell carcinoma of the penis \| 1 C0853105 \| carcinoma of the penis \| 1

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912651	17554370	7157	TP53	umls:C0023652	BeFree	In matched samples, immunohistochemistry evaluation of p53 protein expression revealed the presence of epidermal p53 clones in LS whose presence and number significantly correlated with the presence of TP53 C742T and G818C mutations.	0.007348794	2007	TP53	17	7674221	G	A
rs28934576	17554370	7157	TP53	umls:C0023652	BeFree	In matched samples, immunohistochemistry evaluation of p53 protein expression revealed the presence of epidermal p53 clones in LS whose presence and number significantly correlated with the presence of TP53 C742T and G818C mutations.	0.007348794	2007	TP53	17	7673802	C	T,A

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

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:0002860	Squamous cell carcinoma	MP:0003331	increased hepatocellular carcinoma incidence;HP:0000820	Abnormality of the thyroid gland

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002860	Squamous cell carcinoma	MP:0000639	abnormal adrenal gland morphology;HP:0003765	Psoriasis

Chemical(Total Drugs:0)
(Waiting for update.)

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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