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Nijmegen breakage syndrome

1 OMIM reference -
1 associated gene
44 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Ataxia-telangiectasia

2 OMIM references -
1 associated gene
39 signs/symptoms

Nijmegen breakage syndrome

Ataxia-telangiectasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NBN	(0.88)	ATM

Citations in the biomedical literature:

Nijmegen breakage syndrome		Ataxia-telangiectasia
	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): - Louis-Bar syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare immune disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 2 MeSH references: D049932 / C531759		External references: 2 OMIM references - 1 MeSH reference: D001260


COMMON SIGNS	- Autosomal recessive inheritance - Chromosome breakage - Intellectual deficit / mental / psychomotor retardation / learning disability - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Neoplasms / tumors - Repeat respiratory infections - Short stature / dwarfism / nanism - Thymic aplasia / hypoplasia

Nijmegen breakage syndrome		Ataxia-telangiectasia
	Very frequent - Anomalies of ear and hearing - Anus / rectum anomalies - Beaked nose - 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 - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Philtrum deeply grooved - Short neck - Sloping forehead - Thrombocytopenia / thrombopenia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy 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 weakness / flaccidity - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Skin photosensitivity		Very frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Abnormal hepatic enzymes / transaminases - Abnormal / polycystic ovaries - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Ataxia / incoordination / trouble of the equilibrium - Immunodeficiency / increased susceptibility to infections / recurrent infections - Late puberty / hypogonadism / hypogenitalism - Lymphopenia - Movement disorder - Nystagmus - Premature ageing - Premature greying of hair - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - T-cell deficiency / cellular immunity deficiency - Telangiectasiae of mucosae - Telangiectasiae of the skin - Tremor Frequent - Albinism (hair) - Diabetes mellitus - Elocution disorders / dysarthria / dysphonia - Hypertonia / spasticity / rigidity / stiffness - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Cafe-au-lait spot - Failure to thrive / difficulties for feeding in infancy / growth delay - Insulin-independent / type 2 diabetes - Skin hypoplasia / aplasia / atrophy - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia