ORPHA:715640
Rothmund-Thomson syndrome type 3
Synonyms: RTS3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rothmund-Thomson syndrome type 3 | RTS3 |
| fr | Syndrome de Rothmund-Thomson type 3 | = en |
| de | Rothmund-Thomson-Syndrom Typ 3 | = en |
| es | Síndrome de Rothmund-Thomson tipo 3 | RTS3 · SRT3 |
| it | Sindrome di Rothmund-Thomson tipo 3 | = en |
| nl | Syndroom van Rothmund-Thomson type 3 | = en |
| pt | Rothmund-Thomson syndrome type 3 | |
| pl | Zespół Rothmunda-Thomsona typu 3 | = en |
| cs | Rothmund-Thomson syndrome type 3 | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615789 | 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:2909Rothmund-Thomson syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CRIPT | Disease-causing germline mutation(s) in | Assessed | HGNC:14312 | ENSG00000119878 | 604594 | 2p21 | CXXC repeat containing interactor of PDZ3 domain | 24389050[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/715640
- This record as JSON: /data/d/715640.json