ORPHA:171723
White sponge nevus
Synonyms: Hereditary mucosal leukokeratosis · White sponge nevus of Cannon
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | White sponge nevus | Hereditary mucosal leukokeratosis · White sponge nevus of Cannon |
| fr | Naevus blanc spongieux | Hamartome muqueux spongieux · Leucokératose mucosale héréditaire · Naevus spongieux blanc de Cannon · White sponge naevus |
| de | Schleimhaut-Naevus, weißer | Leukokeratose, mukosale, hereditäre · Weißer Schleimhaut-Naevus Typ Cannon |
| es | Nevo blanco esponjoso | Leucoqueratosis mucosa hereditaria · Nevo blanco esponjoso de Cannon |
| it | Nevo bianco spongiforme | Leucocheratosi ereditaria delle mucose · Nevo bianco spongiforme di Cannon |
| nl | Witte sponsachtige naevus | Erfelijke mucosale leukokeratose · Witte sponsachtige naevus van Cannon |
| pt | Nevo branco esponjoso | |
| pl | Znamię gąbczaste białe | Dziedziczna leukokeratoza błony śluzowej · Znamię gąbczaste białe Cannona |
| cs | Dědičná slizniční leukokeratóza | = en |
| uk | Білий губчастий невус | Спадковий лейкокератоз слизових оболонок · Білий губчастий невус Кеннона |
| zh | 白色海绵状痣 | 遗传性粘膜白斑病 |
| tr | Beyaz sünger nevüs | Cannon beyaz sünger nevüsü · Kalıtsal mukozal lökokeratoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193900 | E | validated | |
| OMIM | 615785 | BTNT | validated | |
| ICD-10 | Q38.6 | NTBT | index | validated |
| ICD-11 | DA02.0 | NTBT | index | validated |
| MONDO | 0015748 | E | validated | |
| MeSH | D053529 | E | validated | |
| UMLS | C1721005 | E | validated | |
| GARD | 8501 | E | validated | |
| MedDRA | 10072666 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT13 | Disease-causing germline mutation(s) in | Assessed | HGNC:6415 | ENSG00000171401 | 148065 | 17q21.2 | keratin 13 | 7493031[PMID]_10561721[PMID]_11379896[PMID]_14600690[PMID] |
| KRT4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6441 | ENSG00000170477 | 123940 | 12q13.13 | keratin 4 | 10652003[PMID]_12828738[PMID]_23182699[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171723
- This record as JSON: /data/d/171723.json