Nijmegen Breakage Syndrome (NBS)

Alias:

Berlin Breakage Syndrome

Nbs

Microcephaly, Normal Intelligence and Immunodeficiency

Seemanova Syndrome Type 2

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Ataxia-Telangiectasia Variant

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

Ataxia-Telangiectasia, Variant 1

Seemanova Syndrome Ii

at V1

Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence

Immunodeficiency, Microcephaly, and Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Immunodeficiency, Microcephaly with Normal Intelligence

Microcephaly with Normal Intelligence, Immunodeficiency

Microcephaly Immunodeficiency Lymphoreticuloma

Ataxia-Telangiectasia Variant V1

Ataxia Telangiectasia Variant V1

Telangiectasia Ataxia Variant V1

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

at-V1

V-at

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Nijmegen Breakage Syndrome, also known as berlin breakage syndrome, is related to nijmegen breakage syndrome-like disorder and telangiectasis. An important gene associated with Nijmegen Breakage Syndrome is NBN (Nibrin), and among its related pathways/superpathways are Gene expression (Transcription) and Infectious disease. The drugs Fludarabine and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include t cells and brain, and related phenotypes are short neck and depressed nasal bridge

Related ID：

MALACARDS：NJM001

OMIM：251260

MESH：D049932