ORPHA:2387
Leukonychia totalis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukonychia totalis | |
| fr | Leuconychie totale | |
| de | Leukonychia totalis | |
| es | Leuconiquia total | |
| it | Leuconichia totale | Sindrome di Gorlin-Bushkell-Jensen |
| nl | Leukonychia totalis | |
| pt | Leuconiquia total | Síndrome Gorlin-Bushkell-Jensen |
| pl | Bielactwo paznokci całkowite | |
| cs | Totální leukonychie | |
| uk | Leukonychia totalis | |
| zh | 全白甲 | |
| tr | Lökonişi totalis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151600 | NTBT | validated | |
| ICD-10 | Q84.4 | NTBT | attributed | validated |
| ICD-11 | EC22.0 | NTBT | index | validated |
| MONDO | 0016557 | E | validated | |
| MeSH | C535889 | E | validated | |
| UMLS | C4551625 | E | validated | |
| GARD | 9759 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79369Isolated nail anomaly
rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLCD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9060 | ENSG00000187091 | 602142 | 3p22.2 | phospholipase C delta 1 | 21665001[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 44 cases | Worldwide | Case(s) | Validated | 29805369[PMID]_19401242[PMID]_30003652[PMID]_36987828[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29805369[PMID]_19401242[PMID]_30003652[PMID]_36987828[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0009720 | Adenoma sebaceum | |
| HP:0000787 | Nephrolithiasis | |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000498 | Blepharitis | |
| HP:0000613 | Photophobia | |
| Occasional (29-5%) | ||
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2387
- This record as JSON: /data/d/2387.json