Familial digital arthropathy-brachydactyly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial digital arthropathy-brachydactyly | |
| fr | Syndrome d'arthropathie digitale-brachydactylie familiale | |
| de | Familiäre digitale Arthropathie mit Brachydaktylie | |
| es | Artropatía digital-braquidactilia familiar | |
| it | Artropatia digitale - brachidattilia familiare | |
| nl | Familiale digitale artropathie-brachydactylie | |
| pt | Artropatia digital-braquidactilia familiar | |
| pl | Rodzinna artropatia-brachydaktylia palców | |
| cs | Familiární digitální artropatie a brachydaktylie | |
| uk | Сімейна пальцева артропатія-брахідактилія | |
| zh | 家族性指关节病-短指畸形 | |
| tr | ailesel dijital artropati-brakidaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606835 | E | validated | |
| ICD-10 | M06.8 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0011732 | E | validated | |
| MeSH | C564656 | E | validated | |
| UMLS | C1847406 | 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:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364820TRPV4-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 21964574[PMID]_24830047[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0004268 | Osteoarthritis of the small joints of the hand | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0005793 | Shortening of all distal phalanges of the toes | |
| HP:0006239 | Shortening of all middle phalanges of the toes | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85169
- This record as JSON: /data/d/85169.json