Rothmund-Thomson syndrome
Information
- Disease name
- Rothmund-Thomson syndrome
- Disease ID
- DOID:2732
- Description
- "A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24." [url:https\://pubmed.ncbi.nlm.nih.gov/20113479/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01304407 | Completed | N/A | Calcium Absorption in Patients With Rothmund-Thomson Syndrome | March 2011 | February 2017 |
| NCT03050268 | Recruiting | Familial Investigations of Childhood Cancer Predisposition | April 6, 2017 | March 31, 2037 |
- Exact Synonym (Disease Ontology)
- Congenital poikiloderma
- Exact Synonym (Disease Ontology)
- RTS
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:4392
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q82.8
- Cross Reference ID (Disease Ontology)
- MESH:D011038
- Cross Reference ID (Disease Ontology)
- MIM:268400
- Cross Reference ID (Disease Ontology)
- NCI:C3335
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205572001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0032339
- OrphaNumber from OrphaNet (Orphanet)
- 2909
- MeSH unique ID (MeSH (Medical Subject Headings))
- D011038