ORPHA:94150
Anonychia congenita totalis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
This disease is described under Isolated congenital anonychia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anonychia congenita totalis | |
| fr | Anonychie congénitale totale | |
| de | Anonychia congenita totalis | |
| es | Anoniquina congénita totalis | |
| it | Anonichia congenita totale | |
| nl | Anonychia congenita totalis | |
| pt | Anoníquia total congénita | |
| pl | Wrodzony całkowity brak paznokci | |
| cs | Anonychia congenita totalis | |
| uk | Аноніхія вроджена тотальна | |
| zh | 先天性完全性无甲症 | |
| tr | Anoniki konjenita totalis |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206800 | E | validated | |
| ICD-10 | Q84.3 | NTBT | attributed | validated |
| ICD-11 | EC22.0 | NTBT | attributed | validated |
| MONDO | 0008798 | E | validated | |
| UMLS | C3277900 | 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:79143Isolated congenital anonychia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RSPO4 | Disease-causing germline mutation(s) in | Assessed | HGNC:16175 | ENSG00000101282 | 610573 | 20p13 | R-spondin 4 | 17914448[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94150
- This record as JSON: /data/d/94150.json