loading...| Preferred Name | Nijmegen breakage syndrome | |
| 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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| 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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| ID |
http://www.orpha.net/ORDO/Orphanet_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 |
|
| 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. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=647 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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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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| label |
Nijmegen breakage syndrome |
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| notation |
ORPHA:647 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_169346 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| prefixIRI |
ORDO:Orphanet_647 |
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| prefLabel |
Nijmegen breakage syndrome |
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| 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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| treeView |
http://www.orpha.net/ORDO/Orphanet_169346 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| subClassOf |