Spondyloepimetaphyseal dysplasia, matrilin-3 type
Synonyms: SEMD, MATN3-related · SEMD, matrilin-3 type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, matrilin-3 type | SEMD, MATN3-related · SEMD, matrilin-3 type |
| fr | Dysplasie spondylo-épimétaphysaire type matrilin-3 | SEMD type MATN3 · SEMD type matrilin-3 |
| de | Spondyloepimetaphysäre Dysplasie, MATN3-Gen-assoziierte | |
| es | Displasia espondiloepimetafisaria tipo matrilina-3 | |
| it | Displasia spondiloepimetafisaria, tipo matrilin-3 | SEMD, tipo MATN3 · SEMD, tipo matrilin-3 |
| nl | Spondylo-epimetafysaire dysplasie, matriline 3-type | SEMD, MATN3-gerelateerd · SEMD, matriline 3-type |
| pt | Displasia espondiloepimetafisária, tipo Matrilin | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa, typ matryliny-3 | SEMD, typ matryliny-3 · SEMD, związana z MATN3 |
| cs | Spondyloepimetafyzární dysplázie, typ matrilin-3 | MATN3-vázaný SEMD · SEMD, typ matrilin-3 |
| uk | Спондилоепіметафізарна дисплазія, тип матриліну-3 | SEMD, повязані з MATN3 · SEMD, тип матриліну-3 |
| zh | Matrlin-3型脊柱干骺端发育不良 | SEMD MATRILIN-3型 |
| tr | Spondiloepimetafizyal displazi, matrilin-3 tipi | SEMD, MATN3-ilişkili · SEMD, matrilin-3 tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608728 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0012108 | E | validated | |
| MeSH | C563869 | E | validated | |
| UMLS | C1837481 | E | validated | |
| GARD | 10611 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal 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 |
|---|---|---|---|---|---|---|---|---|
| MATN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6909 | ENSG00000132031 | 602109 | 2p24.1 | matrilin 3 | 15121775[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 15121775[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15121775[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
11 annotations · validated 2017-05-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002979 | Bowing of the legs | |
| HP:0009826 | Limb undergrowth | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0001377 | Limited elbow extension | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003037 | Enlarged joints | |
| HP:0012368 | Flat face | |
| HP:0000767 | Pectus excavatum | |
| HP:0005257 | Thoracic hypoplasia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 15121775[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/156728
- This record as JSON: /data/d/156728.json