Cernunnos deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Cernunnos deficiency | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Cernunnos deficiency is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = XLF deficiency, X-ray repair cross-complementing protein 4-like factor deficiency | |||
| specialty = [[Immunology]], [[Genetics]] | |||
| symptoms = [[Immunodeficiency]], [[microcephaly]], [[growth retardation]], [[developmental delay]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[NHEJ1]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Severe combined immunodeficiency]], [[Ataxia-telangiectasia]], [[Nijmegen breakage syndrome]] | |||
| treatment = [[Hematopoietic stem cell transplantation]], [[supportive care]] | |||
| prognosis = Variable, depending on severity and treatment | |||
| frequency = Rare | |||
}} | |||
[[File:Protein_NHEJ1_PDB_2QM4.png|Structure of the NHEJ1 protein|thumb|left]] | |||
[[File:IgM_scheme.svg|Schematic of IgM antibody|thumb|left]] | |||
'''Cernunnos deficiency''' is a rare genetic disorder characterized by a deficiency in the Cernunnos protein, which plays a crucial role in the repair of DNA double-strand breaks. This condition is also known as [[XLF deficiency]] or [[NHEJ1 deficiency]], named after the gene that encodes the Cernunnos protein. | '''Cernunnos deficiency''' is a rare genetic disorder characterized by a deficiency in the Cernunnos protein, which plays a crucial role in the repair of DNA double-strand breaks. This condition is also known as [[XLF deficiency]] or [[NHEJ1 deficiency]], named after the gene that encodes the Cernunnos protein. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Cernunnos deficiency can vary widely among affected individuals. Common symptoms include [[microcephaly]] (small head size), [[growth retardation]], [[immune deficiency]], and increased susceptibility to [[cancer]]. Some individuals may also have [[radiosensitivity]], which means they are more sensitive to radiation than normal. | The symptoms of Cernunnos deficiency can vary widely among affected individuals. Common symptoms include [[microcephaly]] (small head size), [[growth retardation]], [[immune deficiency]], and increased susceptibility to [[cancer]]. Some individuals may also have [[radiosensitivity]], which means they are more sensitive to radiation than normal. | ||
== Causes == | == Causes == | ||
Cernunnos deficiency is caused by mutations in the [[NHEJ1 gene]], which provides instructions for making the Cernunnos protein. This protein is involved in the process of non-homologous end joining (NHEJ), a method that cells use to repair DNA double-strand breaks. Mutations in the NHEJ1 gene disrupt the function of the Cernunnos protein, leading to an increased risk of DNA damage and the associated symptoms of Cernunnos deficiency. | Cernunnos deficiency is caused by mutations in the [[NHEJ1 gene]], which provides instructions for making the Cernunnos protein. This protein is involved in the process of non-homologous end joining (NHEJ), a method that cells use to repair DNA double-strand breaks. Mutations in the NHEJ1 gene disrupt the function of the Cernunnos protein, leading to an increased risk of DNA damage and the associated symptoms of Cernunnos deficiency. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Cernunnos deficiency is based on the presence of characteristic symptoms, a detailed patient history, and specialized laboratory tests. Genetic testing can confirm a diagnosis by identifying a mutation in the NHEJ1 gene. | Diagnosis of Cernunnos deficiency is based on the presence of characteristic symptoms, a detailed patient history, and specialized laboratory tests. Genetic testing can confirm a diagnosis by identifying a mutation in the NHEJ1 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Cernunnos deficiency. Treatment is symptomatic and supportive, and may include regular monitoring for cancer, immune system support, and management of other symptoms as needed. | There is currently no cure for Cernunnos deficiency. Treatment is symptomatic and supportive, and may include regular monitoring for cancer, immune system support, and management of other symptoms as needed. | ||
== See also == | == See also == | ||
* [[DNA repair]] | * [[DNA repair]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Microcephaly]] | * [[Microcephaly]] | ||
* [[Cancer]] | * [[Cancer]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:DNA repair]] | [[Category:DNA repair]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:23, 4 April 2025
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Obesity, Sleep & Internal medicine
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| Cernunnos deficiency | |
|---|---|
| |
| Synonyms | XLF deficiency, X-ray repair cross-complementing protein 4-like factor deficiency |
| Pronounce | N/A |
| Specialty | Immunology, Genetics |
| Symptoms | Immunodeficiency, microcephaly, growth retardation, developmental delay |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the NHEJ1 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Severe combined immunodeficiency, Ataxia-telangiectasia, Nijmegen breakage syndrome |
| Prevention | N/A |
| Treatment | Hematopoietic stem cell transplantation, supportive care |
| Medication | N/A |
| Prognosis | Variable, depending on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
Cernunnos deficiency is a rare genetic disorder characterized by a deficiency in the Cernunnos protein, which plays a crucial role in the repair of DNA double-strand breaks. This condition is also known as XLF deficiency or NHEJ1 deficiency, named after the gene that encodes the Cernunnos protein.
Symptoms[edit]
The symptoms of Cernunnos deficiency can vary widely among affected individuals. Common symptoms include microcephaly (small head size), growth retardation, immune deficiency, and increased susceptibility to cancer. Some individuals may also have radiosensitivity, which means they are more sensitive to radiation than normal.
Causes[edit]
Cernunnos deficiency is caused by mutations in the NHEJ1 gene, which provides instructions for making the Cernunnos protein. This protein is involved in the process of non-homologous end joining (NHEJ), a method that cells use to repair DNA double-strand breaks. Mutations in the NHEJ1 gene disrupt the function of the Cernunnos protein, leading to an increased risk of DNA damage and the associated symptoms of Cernunnos deficiency.
Diagnosis[edit]
Diagnosis of Cernunnos deficiency is based on the presence of characteristic symptoms, a detailed patient history, and specialized laboratory tests. Genetic testing can confirm a diagnosis by identifying a mutation in the NHEJ1 gene.
Treatment[edit]
There is currently no cure for Cernunnos deficiency. Treatment is symptomatic and supportive, and may include regular monitoring for cancer, immune system support, and management of other symptoms as needed.
See also[edit]
References[edit]
<references />
