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Nijmegenský zlomový syndróm

Č. záznamu	d049932
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	Nijmegenský zlomový syndróm
Iný termín	Slovenčina (Pseudonym) Nijmegenský syndróm lomivosti Slovenčina (Pseudonym) Seemanovej syndróm II Slovenčina (Pseudonym) Seemanovej syndróm, typ 2
MDT	C18.452.284.600
Poznámka	A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.

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