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Nijmegen breakage syndrome-like disorder
1 OMIM reference -
1 associated gene
45 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Ataxia-telangiectasia-like disorder
Nijmegen breakage syndrome
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Li-Fraumeni syndrome
Osteosarcoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Fanconi anemia
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Omenn syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
Amyotrophic lateral sclerosis
Burkitt lymphoma
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated adermatoglyphia
Jawad syndrome
Precursor T-cell acute lymphoblastic leukemia
Seckel syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Wolf-Hirschhorn syndrome
Spinocerebellar ataxia type 36
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Bloom syndrome
Combined cervical dystonia
Mantle cell lymphoma
Synonym(s):
- Microcephaly and chromosomal instability without immunodeficiency
- NBS-like disorder
- NBSLD
- RAD50 deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RAD50 Q92878604040
No signs/symptoms info available.