ORPHA:171866
Spondyloepimetaphyseal dysplasia, aggrecan type
Synonyms: SEMD, aggrecan type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, aggrecan type | SEMD, aggrecan type |
| fr | Dysplasie spondylo-épimétaphysaire type aggrécane | SEMD type aggrécane |
| de | Dysplasie, spondyloepimetaphysäre, Typ Aggrecan | SEMD, Aggrecan-Typ |
| es | Displasia espondilometafisaria tipo agrecán | |
| it | Displasia spondiloepimetafisaria, tipo aggrecano | SEMD, tipo aggrecano |
| nl | Spondylo-epimetafysaire dysplasie, aggrecan-type | SEMD, aggrecan-type |
| pt | Displasia espondiloepimetafisária, tipo aggrecan | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa, typ agrekan | SEMD, typ agrekan |
| cs | Spondyloepimetafyzární dysplázie, typ agrekan | SEMD, typ agrekan |
| uk | Спондилоепіметафізарна дисплазія, агрекановий тип | SEMD, агрегатний тип |
| zh | 蛋白聚糖型脊柱干骺端发育不良 | 蛋白聚糖型SEMD |
| tr | Spondiloepimetafizyal displazi, agrekan tipi | SEMD, agrekan tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612813 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0013014 | E | validated | |
| MeSH | C567558 | E | validated | |
| UMLS | C2748544 | E | validated | |
| GARD | 10513 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:674499Proteoglycan-related bone disorder
rare genetic diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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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 | 19110214[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 19110214[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19110214[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.
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HPO phenotypes
16 annotations · validated 2017-04-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0005285 | Absent nasal bridge | |
| HP:0001552 | Barrel-shaped chest | |
| HP:0001156 | Brachydactyly | |
| HP:0011304 | Broad thumb | |
| HP:0001382 | Joint hypermobility | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0003027 | Mesomelia | |
| HP:0011800 | Midface retrusion | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004482 | Relative macrocephaly | |
| HP:0008905 | Rhizomelia | |
| HP:0000470 | Short neck | |
| Frequent (79-30%) | ||
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0001609 | Hoarse voice | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19110214[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171866
- This record as JSON: /data/d/171866.json