eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lichen sclerosus | ||||
| Disease ID | 391 |
|---|---|
| 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 | |
| ICD10 | |
| UMLS | C0023652 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:22) C0007137 | squamous cell carcinoma | 4 C0041974 | urethral stricture | 3 C0021053 | immune disease | 2 C0033953 | sexual dysfunction | 1 C0025202 | melanoma | 1 C0006142 | breast cancer | 1 C0346054 | verruciform xanthoma | 1 C1527383 | morphea | 1 C0023646 | lichen planus | 1 C0040128 | thyroid diseases | 1 C0031538 | phimosis | 1 C0030805 | pemphigoid | 1 C0009806 | constipation | 1 C0853105 | carcinoma of the penis | 1 C0030805 | bullous pemphigoid | 1 C0019621 | langerhans cell histiocytosis | 1 C0853105 | penile carcinoma | 1 C0040128 | thyroid disease | 1 C0206706 | verrucous carcinoma | 1 C0041408 | turner syndrome | 1 C0019618 | histiocytosis | 1 C0027960 | naevus | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 391 |
|---|---|
| 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:15) HP:0002860 | Squamous cell carcinoma | 4 HP:0030731 | Carcinoma | 4 HP:0002960 | Autoimmune condition | 3 HP:0012227 | Urethral stricture | 3 HP:0002019 | Dyschezia | 1 HP:0030418 | Vulvar melanoma | 1 HP:0003764 | Naevus | 1 HP:0012344 | Morphea | 1 HP:0003002 | Breast carcinoma | 1 HP:0001741 | Phimosis | 1 HP:0001036 | Parakeratosis | 1 HP:0000820 | Thyroid abnormality | 1 HP:0001371 | Flexion contractures of joints | 1 HP:0002861 | Melanoma | 1 HP:0100727 | Histiocytosis | 1 |
| Disease ID | 391 |
|---|---|
| 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) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:0011903 | decreased hematopoietic stem cell proliferation | reduction in the expansion rate of a hematopoietic stem cell population by cell division |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002860 | Squamous cell carcinoma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| Disease ID | 391 |
|---|---|
| Disease | lichen sclerosus |
| Case | (Waiting for update.) |