ORPHA:728902
Craniotubular dysplasia, Ikegawa type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniotubular dysplasia, Ikegawa type | |
| fr | Dysplasie craniotubulaire type Ikegawa | |
| de | Kraniotubuläre Dysplasie Typ Ikegawa | |
| es | Displasia craneotubular, tipo Ikegawa | |
| it | Displasia craniotubulare, tipo Ikegawa | |
| nl | Craniotubulaire dysplasie, Ikegawa-type | |
| pt | Craniotubular dysplasia, Ikegawa type | |
| pl | Craniotubular dysplasia, Ikegawa type | |
| cs | Craniotubular dysplasia, Ikegawa type |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619727 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMEM53 | Disease-causing germline mutation(s) in | Assessed | HGNC:26186 | ENSG00000126106 | 619722 | 1p34.1 | transmembrane protein 53 | 33824347[PMID]_41408477[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 15 cases | Worldwide | Case(s) | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/728902
- This record as JSON: /data/d/728902.json