Details of Disease

General Information of Disease (ID: DISQF01Z)

• Disease Name: Nijmegen breakage syndrome-like disorder
• Synonyms: Rad50 deficiency; microcephaly and spontaneous chromosome instability without immunodeficiency; NBs-like disorder; microcephaly and chromosomal instability without immunodeficiency; RAD50 deficiency; NBSLD; Nijmegen breakage syndrome-like disorder
• Definition: Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
• Disease Hierarchy:
  DISMFQKM: Developmental anomaly of metabolic origin
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISN7YWO: DNA repair disease
  DISQF01Z: Nijmegen breakage syndrome-like disorder
• Disease Identifiers:
  MONDO ID: MONDO_0013118
  MESH ID: C567767
  UMLS CUI: C2751318
  OMIM ID: 613078
  MedGen ID: 442700
  Orphanet ID: 240760
  SNOMED CT ID: 766753005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MRE11	OTGU8TZM	Strong	GermlineCausalMutation	[1]
RAD50	OTYMU9G1	Strong	Autosomal recessive	[2]

References

• [1] Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.DNA Repair (Amst). 2011 Mar 7;10(3):314-21. doi: 10.1016/j.dnarep.2010.12.002. Epub 2011 Jan 12.
• [2] Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet. 2009 May;84(5):605-16. doi: 10.1016/j.ajhg.2009.04.010. Epub 2009 Apr 30.