ORPHA:280654
Autosomal recessive nail dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive nail dysplasia | |
| fr | Dysplasie des ongles autosomique récessive | |
| de | Nageldysplasie, autosomal-rezessive | |
| es | Displasia ungueal autosómica recesiva | |
| it | Displasia ungueale autosomica recessiva | |
| nl | Autosomaal recessieve nageldysplasie | |
| pt | Displasia das unhas autossómica recessiva | |
| pl | Autosomalna recesywna dystrofia paznokci | |
| cs | Autozomálně recesivní dysplázie nehtů | |
| uk | Аутосомно-рецесивна дисплазія нігтів | |
| zh | 常染色体隐性指甲发育不良 | |
| tr | Otozomal resesif tırnak displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 161050 | NTBT | validated | |
| ICD-10 | Q84.6 | NTBT | attributed | validated |
| ICD-11 | EC22.0 | NTBT | attributed | validated |
| MONDO | 0029051 | E | validated | |
| UMLS | C5190687 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FZD6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4044 | ENSG00000164930 | 603409 | 8q22.3 | frizzled class receptor 6 | 21665003[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 21665003[PMID] | |
| 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.
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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/280654
- This record as JSON: /data/d/280654.json