Familial osteochondritis dissecans
Synonyms: Osteochondritis dissecans and short stature
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial osteochondritis dissecans | Osteochondritis dissecans and short stature |
| fr | Ostéochondrite disséquante familiale | Ostéochondrite disséquante et petite taille |
| de | Osteochondrosis dissecans, familiäre | Osteochondritis dissecans und Kleinwuchs |
| es | Osteocondritis disecante familiar | Osteocondritis disecante y talla baja |
| it | Osteocondrite dissecante familiare | Osteocondrite dissecante e bassa statura |
| nl | Familiale osteochondritis dissecans | Osteochondritis dissecans en kleine gestalte |
| pt | Osteocondrite dissecante familiar | Osteocondrite dissecante e baixa estatura |
| pl | Rodzinna oddzielająca jałowa martwica kostno-chrzęstna | Oddzielająca jałowa martwica kostno-chrzęstna i niski wzrost |
| cs | Familiární osteochondritis dissecans | Osteochondritis dissecans a nízký vzrůst |
| uk | Сімейний остеохондроз розсіяний | Остеохондроз дисекантний і низький зріст |
| zh | 家族性剥脱性骨软骨炎 | 剥脱性骨软骨炎和身材矮小 |
| tr | Ailesel osteokondrit dissecans | Osteokondritis dissekans ve kısa boy |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M93.2 | NTBT | attributed | validated |
| ICD-11 | FB82.1 | NTBT | index | validated |
| MONDO | 0100462 | E | validated | |
| MeSH | C580095 | E | validated | |
| UMLS | C3665488 | E | validated | |
| GARD | 4133 | 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 (3):
- ORPHA:399158Osteonecrosis
rare systemic and rheumatological diseases; rare bone diseases - ORPHA:399380Osteonecrosis of genetic origin
rare genetic diseases - ORPHA:674499Proteoglycan-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACAN | Disease-causing germline mutation(s) in | Assessed | HGNC:319 | ENSG00000157766 | 155760 | 15q26.1 | aggrecan | 20137779[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251262
- This record as JSON: /data/d/251262.json