ORPHA:217059
Isolated nail clubbing
Synonyms: Isolated congenital acropachy · Isolated congenital digital clubbing
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated nail clubbing | Isolated congenital acropachy · Isolated congenital digital clubbing |
| fr | Hippocratisme digital isolé | Acropachie isolée congénitale |
| de | Trommelschlägelfinger, isolierte | Akropachie, isolierte kongenitale · Isolierte angeborene Trommelschlegelfinger |
| es | Hipocratismo digital aislado | Acropaquia congénita aislada · Hipocratismo digital congénito aislado |
| it | Ippocratismo ungueale isolato | Acropachia congenita isolata · Ippocratismo digitale congenito isolato |
| nl | Geïsoleerde horlogeglasnagel | Geïsoleerde Hippocrates-nagel · Geïsoleerde congenitale acropachie · Geïsoleerde congenitale trommelstokvingers/-tenen |
| pt | Baqueteamento das unhas isolado | Acrofaquia isolada congénita · Baqueteamento digital isolado congénito |
| pl | Izolowane wrodzone palce maczugowate | Izolowana wrodzona akropachia · Izolowane wrodzone paznokcie maczugowate · Izolowane stłoczenie paznokci |
| cs | Vrozené paličkovité prsty | Izolovaná vrozená akropachie · Izolované vrozené paličkovité prsty |
| uk | Ізольовані нігті у вигляді часових скелець | Ізольована вроджена акропатія · Ізольовані вроджені булавовидні пальці |
| zh | 孤立性先天性杵状指 | 孤立性先天性杵状指 |
| tr | İzole doğumsal dijital clubbing | İzole doğumsal akropaki · İzole doğumsal çomak parmak |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119900 | E | validated | |
| ICD-10 | Q68.1 | NTBT | inclusion | validated |
| ICD-11 | LB90.5 | E | specific | validated |
| MONDO | 0007343 | E | validated | |
| UMLS | C0345408 | 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 (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 |
|---|---|---|---|---|---|---|---|---|
| HPGD | Disease-causing germline mutation(s) in | Assessed | HGNC:5154 | ENSG00000164120 | 601688 | 4q34.1 | 15-hydroxyprostaglandin dehydrogenase | 18805827[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET_24036948[PMID] |
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
17 annotations · validated 2021-12-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003549 | Abnormality of connective tissue | |
| Frequent (79-30%) | ||
| HP:0001500 | Broad finger | |
| HP:0011300 | Broad fingertip | |
| HP:0001821 | Broad nail | |
| HP:0011304 | Broad thumb | |
| HP:0001837 | Broad toe | |
| HP:0100759 | Clubbing of fingers | |
| HP:0100760 | Clubbing of toes | |
| HP:0001795 | Hyperconvex nail | |
| HP:0002164 | Nail dysplasia | |
| HP:0001805 | Onychogryphosis | |
| Occasional (29-5%) | ||
| HP:0008391 | Dystrophic fingernails | |
| HP:0012203 | Onychomycosis | |
| Excluded (0%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0002829 | Arthralgia | |
| HP:0002653 | Bone pain | |
| HP:0000975 | Hyperhidrosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 11466101[PMID]_27681482[PMID]_18805827[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217059
- This record as JSON: /data/d/217059.json