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Nijmegen breakage syndrome

1 OMIM reference -
1 associated gene
44 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 8

Seckel syndrome

6 OMIM references -
6 associated genes
24 signs/symptoms

Nijmegen breakage syndrome

Seckel syndrome

NBN	(UniProt - OMIM)		ATR	(UniProt - OMIM)
			ATRIP	(UniProt - OMIM)
			CENPJ	(UniProt - OMIM)
			CEP152	(UniProt - OMIM)
			PCNT	(UniProt - OMIM)
			RBBP8	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NBN NBN NBN	(0.85) (0.72) (0.63)	ATR RBBP8 ATRIP

Citations in the biomedical literature:

Nijmegen breakage syndrome		Seckel syndrome
	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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 2 MeSH references: D049932 / C531759		External references: 6 OMIM references - 1 MeSH reference: C537533


COMMON SIGNS	- Autosomal recessive inheritance - Beaked nose - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Short stature / dwarfism / nanism - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Nijmegen breakage syndrome		Seckel syndrome
	Very frequent - Anomalies of ear and hearing - Anus / rectum anomalies - Chromosome breakage - Depressed nasal bridge - Face / facial anomalies - Hair and scalp anomalies - Hemolytic anemia - Hyperactivity / attention deficit - 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 - Monoclonal immunoglobulins / gammapathy / dysglobulinemia - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Philtrum deeply grooved - Repeat respiratory infections - Short neck - Sloping forehead - Thrombocytopenia / thrombopenia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures 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 - Abnormal / absent ossification - Clinodactyly of fifth finger - Craniostenosis / craniosynostosis / sutural synostosis - Intrauterine growth retardation - Narrow face - Premature ageing - Small / hypoplastic / adherent / absent ear lobe - Wide space between 1st-2nd toes Frequent - Anodontia / oligodontia / hypodontia - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Enamel anomaly - Glaucoma - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity Occasional - Scoliosis