MIR140-related spondyloepiphyseal dysplasia
Synonyms: MIR140-related SED · Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MIR140-related spondyloepiphyseal dysplasia | MIR140-related SED · Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses |
| fr | Dysplasie spondylo-épiphysaire liée à MIR140 | Dysplasie spondylo-épiphysaire avec brachydactylie sévère-épiphyses coniques |
| de | Dysplasie, spondyloepiphysäre, MIR140-assoziierte | MIR140-abhängige SED · Spondyloepiphysäre Dysplasie mit schwerer Brachydaktylie und Zapfenepiphysen |
| es | Displasia espondiloepifisaria asociada a MIR140 | DEE asociada a MIR140 · Displasia espondiloepifisaria con braquidactilia grave y epífisis en forma de cono |
| it | Displasia spondiloepifisaria correlata a MIR140 | Displasia spondiloepifisaria con brachidattilia grave ed epifisi a cono · SED correlata a MIR140 |
| nl | MIR140-gerelateerde spondylo-epifysaire dysplasie | MIR140-gerelateerde SED · Spondylo-epifysaire dysplasie met ernstige brachydactylie-kegelvormige epifysen |
| pt | Displasia espondiloepifisária MIR140-relacionada | Displasia espondiloepifisária com braquidactilia grave e epífises cónicas · SED MIR140-relacionada |
| pl | Dysplazja kręgowo-nasadowa związana z MIR140 | = en |
| cs | MIR140-asociovaná spondyloepifyzární dysplázie | = en |
| uk | Спондилоепіфізарна дисплазія, повязана з MIR140 | SED, повязаний з MIR140 · Спондилоепіфізарна дисплазія з вираженою брахідактилією та конусоподібними епіфізами |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618618 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0850099 | E | validated | |
| UMLS | C5680411 | 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 (1):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MIR140 | Disease-causing germline mutation(s) in | Assessed | HGNC:31527 | ENSG00000208017 | 611894 | 16q22.1 | microRNA 140 | 30804514[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 30804514[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30804514[PMID]_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/623695
- This record as JSON: /data/d/623695.json