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Nijmegen breakage syndrome
1 OMIM reference -
1 associated gene
44 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
Premature chromosome condensation with microcephaly and intellectual deficit
1 OMIM reference -
1 associated gene
14 signs/symptoms
Nijmegen breakage syndrome
Premature chromosome condensation with microcephaly and intellectual deficit

NBN
(UniProt - OMIM)
 MCPH1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NBN
(0.52)
MCPH1


Citations in the biomedical literature:


Nijmegen breakage syndrome
NBN
Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1



Nijmegen breakage syndrome
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
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
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
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
2 MeSH references: D049932 / C531759
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism
- Sloping forehead

Nijmegen breakage syndrome
Premature chromosome condensation with microcephaly and intellectual deficit

Very frequent
- Anomalies of ear and hearing
- Anus / rectum anomalies
- 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
- Long / large / bulbous nose
- Low hair line-front
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micrognathia / retrognathia / micrognathism / retrognathism
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Philtrum deeply grooved
- Repeat respiratory infections
- Short neck
- 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


Very frequent
- Chromosomal or genetic anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Thin / retracted lips

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical anomaly / thick bone cortical layer
- Dilated cerebral ventricles without hydrocephaly
- Hypereflexia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter