Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | |
| fr | Arthrose précoce avec dysplasie spondyloépiphysaire intermédiaire due à une mutation du gène COL2A1 | |
| de | Milde spondyloepiphysäre Dysplasie durch COL2A1-Genmutation mit früh beginnender Osteoarthritis | |
| es | Osteoartritis de inicio precoz con displasia espondiloepifisaria leve por una mutación en el gen COL2A1 | |
| it | Osteoartrite a esordio precoce con lieve displasia spondiloepifisaria da mutazioni di COL2A1 | |
| nl | Milde spondylo-epifysaire dysplasie als gevolg van COL2A1-mutatie met vroege-aanvang osteoartritis | |
| pt | Displasia espondiloepifisária ligeira por mutação no COL2A1 com osteoartrite de início precoce | |
| pl | Łagodna dysplazja kręgowo-nasadowa spowodowana mutacją COL2A1 z zapaleniem kostno-stawowym o wczesnym początku | |
| cs | Lehká spondyloepifyzární dysplázie na podkladě mutace COL2A1 s časnou osteoartrózou | |
| uk | Легка спондилоепіфізарна дисплазія внаслідок мутації COL2A1 з раннім початком остеоартрозу | |
| zh | COL2A1变异伴早发性关节炎所致轻度脊椎骨骺发育不良 | |
| tr | Erken başlangıçlı osteoartrit ile seyreden COL2A1 mutasyonuna bağlı hafif spondiloepifizyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604864 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0011496 | E | validated | |
| UMLS | C4275063 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 1975693[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 7757086[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7757086[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93279
- This record as JSON: /data/d/93279.json