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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_647
http://www.orpha.net/ORDO/Orphanet_647
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|---|---|
| Preferred Name | Nijmegen breakage syndrome |
| Definitions |
A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.
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| Synonyms |
Immunodeficiency-microcephaly-chromosomal instability syndrome
Ataxia-telangiectasia, variant 1
AT V1
NBS
Berlin breakage syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
Seemanova syndrome type 2
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| definition | A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies. |
| label |
Nijmegen breakage syndrome
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| prefLabel |
Nijmegen breakage syndrome
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| hasDbXref |
MedDRA:10067857
MeSH:D049932
OMIM:251260
ICD-11:4A01.31
ICD-10:Q87.8
UMLS:C0398791
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|
| notation |
ORPHA:647
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| alternative_term |
Immunodeficiency-microcephaly-chromosomal instability syndrome
Ataxia-telangiectasia, variant 1
AT V1
NBS
Berlin breakage syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
Seemanova syndrome type 2
See more
See less
|
| present_in |
Ukraine AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 1 000 000
Belarus AND has_point_prevalence_average_value : 2.3 AND has_point_prevalence_range : 1-9 / 1 000 000
Russian Federation AND has_point_prevalence_average_value : 0.7 AND has_point_prevalence_range : <1 / 1 000 000
Worldwide AND has_birth_prevalence_average_value : 1.0 AND has_birth_prevalence_range : 1-9 / 100 000
Czech Republic AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 1 000 000
Slovakia AND has_point_prevalence_average_value : 2.6 AND has_point_prevalence_range : 1-9 / 1 000 000
Worldwide AND has_point_prevalence_range : Unknown
Poland AND has_point_prevalence_average_value : 3.1 AND has_point_prevalence_range : 1-9 / 1 000 000
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| part_of | |
| prefixIRI |
ORDO:Orphanet_647
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal recessive
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| has_age_of_onset |
Infancy
Neonatal
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