Isolated congenital anonychia
Synonyms: Isolated anonychia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital anonychia | Isolated anonychia |
| fr | Anonychie congénitale isolée | Anonychie isolée |
| de | Anonychie, isolierte kongenitale | Anonychie, isolierte |
| es | Anoniquia congénita aislada | Anoniquia aislada |
| it | Anonichia congenita isolata | Anonichia isolata |
| nl | Geïsoleerde congenitale anonychie | Geïsoleerde anonychie |
| pt | Anoníquia congénita | |
| pl | Izolowany wrodzony brak paznokci | Izolowana anonychia |
| cs | Izolovaná vrozená anonychie | Izolovaná anonychie |
| uk | Ізольована вроджена аноніхія | Ізольована аноніхія |
| zh | 孤立型先天性甲缺如 | 孤立型甲缺如 |
| tr | İzole doğumsal anonişi | İzole anonişi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107000 | BTNT | validated | |
| OMIM | 206800 | BTNT | validated | |
| OMIM | 614149 | BTNT | validated | |
| ICD-10 | Q84.3 | E | specific | validated |
| ICD-11 | EC22.0 | NTBT | index | validated |
| MONDO | 0019211 | E | validated | |
| MeSH | C536377 | E | validated | |
| UMLS | C0265998 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79369Isolated nail anomaly
rare genetic diseases; rare skin diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| RSPO4 | ORPHA:94150Anonychia congenita totalis | Disease-causing germline mutation(s) in | Assessed | HGNC:16175 | ENSG00000101282 | 610573 | 20p13 | R-spondin 4 | 17914448[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79143
- This record as JSON: /data/d/79143.json