ORPHA:93304
Autosomal dominant brachyolmia
Synonyms: Brachyolmia type 3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant brachyolmia | Brachyolmia type 3 |
| fr | Brachyolmie autosomique dominante | Brachyolmie type 3 |
| de | Brachyolmie Typ 3 | |
| es | Braquiolmia autosómica dominante | Braquiolmia tipo 3 |
| it | Brachiolmia autosomica dominante | Brachiolmia tipo 3 |
| nl | Autosomaal dominante brachyolmie | Brachyolmie type 3 |
| pt | Braquiolmia autossómica dominante | |
| pl | Autosomalna dominująca brachyolmia | Brachyolmia typu 3 |
| cs | Autozomálně dominantní brachyolmie | Brachyolmie, typ 3 |
| uk | Аутосомно-домінантна брахіолмія | Брахіолмія типу 3 |
| zh | 常染色体显性短躯干症 | 短躯干症3型 |
| tr | Otozomal dominant brakiyolmi | Brakiyolmi tip 3 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113500 | E | validated | |
| ICD-10 | Q76.3 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | index | validated |
| MONDO | 0007232 | E | validated | |
| MeSH | C562963 | E | validated | |
| UMLS | C0432227 | E | validated | |
| GARD | 10429 | 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:1293Brachyolmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364820TRPV4-related bone disorder
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 18587396[PMID]_24830047[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004570 | Increased vertebral height | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000926 | Platyspondyly | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| Occasional (29-5%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93304
- This record as JSON: /data/d/93304.json