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Nijmegen breakage syndrome
1 OMIM reference -
1 associated gene
46 connected diseases
44 signs/symptoms
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Seckel syndrome
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Nijmegen breakage syndrome-like disorder
Ataxia-telangiectasia-like disorder
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Fanconi anemia
Mantle cell lymphoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Dedifferentiated liposarcoma
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Well-differentiated liposarcoma
Werner syndrome
Jawad syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Omenn syndrome
Severe combined immunodeficiency due to DCLRE1C deficiency
Intellectual deficit, X-linked, Nascimento type
Li-Fraumeni syndrome
Osteosarcoma
Bloom syndrome
Aicardi-Goutières syndrome
Autosomal recessive primary microcephaly
Cerebroretinal vasculopathy
Chilblain lupus
HERNS syndrome
Hereditary vascular retinopathy
Premature chromosome condensation with microcephaly and intellectual deficit
Synonym(s):
- AT V1
- Ataxia-telangiectasia, variant 1
- Berlin breakage syndrome
- Immunodeficiency - microcephaly - chromosomal instability
- Microcephaly - immunodeficiency - lymphoreticuloma
- NBS
- Seemanova syndrome type 2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
2 MeSH references: D049932 / C531759
Gene symbol UniProt reference OMIM reference
NBN O60934602667
Very frequent
- Anomalies of ear and hearing
- Anus / rectum anomalies
- Autosomal recessive inheritance
- Beaked nose
- Chromosome breakage
- Depressed nasal bridge
- Face / facial anomalies
- Hair and scalp anomalies
- Hemolytic anemia
- Hyperactivity / attention deficit
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Low hair line-front
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Philtrum deeply grooved
- Repeat respiratory infections
- Short neck
- Short stature / dwarfism / nanism
- Sloping forehead
- Thrombocytopenia / thrombopenia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Neoplasms / tumors
- Thymic aplasia / hypoplasia

Occasional
- Acute leukemia
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Excessive freckling
- Glial tumor / glioblastoma
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Lymphoma
- Medulloblastoma
- Muscle anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skin photosensitivity