Nijmegen breakage syndrome-like disorder

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY
NBSLD
Microcephaly and chromosomal instability without immunodeficiency
rad50 deficiency
nbs-like disorder
Number of Symptoms 8
OrphanetNr: 240760
OMIM Id: 613078
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: DNA repair defect other than combined T-cell and B-cell immunodeficiencies
 -Rare genetic disease
 -Rare immune disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000540) Hypermetropia 99 / 7739
3
 (HPO:0001257) Spasticity 251 / 7739
4
 (HPO:0001251) Ataxia 413 / 7739
5
 (HPO:0001249) Intellectual disability 19409520 IBIS 1089 / 7739
6
 (HPO:0004322) Short stature 19409520 IBIS 1232 / 7739
7
 (HPO:0010997) Chromosomal breakage induced by ionizing radiation 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Barbi et al. (1991) reported a microcephalic, growth-retarded newborn girl without major anomalies who had chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia-telangiectasia (AT; 208900). She ...
Molecular genetics OMIM In a patient with a Nijmegen breakage syndrome-like disorder (NBSLD), Waltes et al. (2009) identified compound heterozygosity mutations in the RAD50 gene, a maternally inherited nonsense mutation (604040.0001) and a paternally inherited point mutation that resulted in extension ...