eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| white sponge nevus | ||||
| Disease ID | 571 |
|---|---|
| Disease | white sponge nevus |
| Definition | An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white opalescent tint. Other MUCOSAL TISSUE may also be involved mucosa found in the VAGINA; RECTUM, and NASAL CAVITY may be similarly involved. This form of LEUKOKERATOSIS can be caused by a mutation in the gene for KERATIN 4 and is not considered a PRENEOPLASTIC CONDITION. |
| Synonym | familial white folded mucosal dysplasia hereditary leukokeratosis of mucosa hereditary mucosal leukokeratoses hereditary mucosal leukokeratosis hereditary oral keratosis hereditary white sponge naevus hereditary white sponge nevus leucokeratosis mucosae oris leukokeratoses, hereditary mucosal leukokeratosis mucosae oris leukokeratosis, hereditary mucosal leukokeratosis, hereditary mucosal [disease/finding] mucosal leukokeratoses, hereditary mucosal leukokeratosis, hereditary white folded gingivostomatosis white folded stomatitis white sponge naevus white sponge naevus of mucosa white sponge nevus of cannon white sponge nevus of mucosa white sponge nevus of mucosa (disorder) white sponge nevus of mucosa [ambiguous] (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1721005 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences: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:6) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 571 |
|---|---|
| Disease | white sponge nevus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 571 |
|---|---|
| Disease | white sponge nevus |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587776844 | NA | 3851 | KRT4 | umls:C1721005 | CLINVAR | NA | 0.241628651 | NA | KRT4 | 12 | 52813619 | TTG | - |
| rs587776845 | NA | 3851 | KRT4 | umls:C1721005 | CLINVAR | NA | 0.241628651 | NA | KRT4 | 12 | 52813639 | - | TTG |
| rs62642055 | NA | 3851 | KRT4 | umls:C1721005 | CLINVAR | NA | 0.241628651 | NA | KRT3;KRT4 | 12 | 52807687 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002745 | Oral leukoplakia | MP:0003751 | oral leukoplakia | white patchy lesions of the mucous membranes of the oral cavity; often considered a precancerous condition |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002745 | Oral leukoplakia | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| Disease ID | 571 |
|---|---|
| Disease | white sponge nevus |
| Case | (Waiting for update.) |