Ehlers-Danlos/osteogenesis imperfecta syndrome
Synonyms: EDS/OI syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ehlers-Danlos/osteogenesis imperfecta syndrome | EDS/OI syndrome |
| fr | Syndrome d'Ehlers-Danlos/ostéogenèse imparfaite | Syndrome EDS/OI · Syndrome SED/OI |
| de | Ehlers-Danlos/Osteogenesis imperfecta-Syndrom | EDS/OI-Syndrom |
| es | Síndrome de Ehlers-Danlos/osteogénesis imperfecta | Síndrome SED/OI |
| it | Sindrome di Ehlers-Danlos/osteogenesi imperfetta | Sindrome di EDS/OI |
| nl | Ehlers-Danlos/osteogenesis imperfecta-syndroom | EDS/OI-syndroom |
| pt | Síndrome Ehlers-Danlos/osteogenesis imperfecta | Síndrome EDS/OI |
| pl | Zespół Ehlersa i Danlosa/wrodzona łamliwość kości | Zespół EDS/OI |
| cs | Syndrom osteogenesis imperfecta/Ehlersův-Danlosův | OI/EDS syndrom · Syndrom osteogenesis imperfecta/Ehlers-Danlosův |
| uk | Синдром Елерса-Данлоса/недосконалого остеогенезу | Синдром EDS/ОІ |
| zh | 埃勒斯-当洛斯/成骨不全综合征 | EDS/OI 综合征 |
| tr | Ehlers-Danlos/osteogenezis imperfekta sendromu | EDS / OI sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619115 | BTNT | validated | |
| OMIM | 619120 | BTNT | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | index | validated |
| MONDO | 0016470 | E | validated | |
| UMLS | C4518787 | 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 (6):
- ORPHA:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:619249Rare hereditary connective tissue disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2197 | ENSG00000108821 | 120150 | 17q21.33 | collagen type I alpha 1 chain | 15728585[PMID]_23692737[PMID]_25674388[PMID] |
| COL1A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2198 | ENSG00000164692 | 120160 | 7q21.3 | collagen type I alpha 2 chain | 23692737[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET_23692737[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/230857
- This record as JSON: /data/d/230857.json