Nijmegen breakage syndrome
Information
- Disease name
- Nijmegen breakage syndrome
- Disease ID
- DOID:7400
- Description
- "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/3277755, url:https\://www.ncbi.nlm.nih.gov/pubmed/9042920]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT06198842 | Recruiting | Phase 2 | Low Dose Treosulfan Based Conditioning Regimen and PTCy in HSCT for Nijmegen Breakage Syndrome | November 22, 2023 | January 31, 2029 |
| NCT04400045 | Unknown status | Phase 2 | Low Dose Treosulfan Based Conditioning Regimen in HSCT for Nijmegen Breakage Syndrome | May 22, 2020 | May 2023 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:3904
- Cross Reference ID (Disease Ontology)
- MESH:D049932
- Cross Reference ID (Disease Ontology)
- MIM:251260
- Cross Reference ID (Disease Ontology)
- NCI:C4692
- Cross Reference ID (Disease Ontology)
- ORDO:647
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:234638009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0398791
- Exact Synonym (Disease Ontology)
- ataxia-telangiectasia variant
- Exact Synonym (Disease Ontology)
- Berlin breakage syndrome
- Exact Synonym (Disease Ontology)
- immunodeficiency-microcephaly-chromosomal instability syndrome
- Exact Synonym (Disease Ontology)
- Microcephaly, normal intelligence and immunodeficiency
- Exact Synonym (Disease Ontology)
- microcephaly-immunodeficiency-lymphoreticuloma syndrome
- Exact Synonym (Disease Ontology)
- NBS
- Exact Synonym (Disease Ontology)
- Seemanova syndrome II
- Exact Synonym (Disease Ontology)
- Seemanova syndrome type 2
- OrphaNumber from OrphaNet (Orphanet)
- 647
- MeSH unique ID (MeSH (Medical Subject Headings))
- D049932