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Nijmegen breakage syndrome
Summary
- Synonym
-
- Berlin breakage syndrome
- Microcephaly, normal intelligence and immunodeficiency
- NBS
- Seemanova syndrome II
- Seemanova syndrome type 2
- ataxia-telangiectasia variant
- immunodeficiency-microcephaly-chromosomal instability syndrome
- microcephaly-immunodeficiency-lymphoreticuloma syndrome
- Definition
- 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.
- Super Class
- autosomal recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 23423 | TMED3 | transmembrane p24 trafficking protein 3 |
Related Glycoprotein
