PDCD10
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Gene summaries condense public reference material; disease links and population data change as databases are updated. Clinical decisions belong with your care team.
programmed cell death 10
Normal Function
Health Conditions Related to Genetic Changes
Cerebral cavernous malformation
More than a dozen mutations in the PDCD10 gene have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone to leakage. These mutations include a deletion of the entire gene, deletion of small segments of DNA, and changes in single DNA building blocks (nucleotides). These mutations result in an abnormal or absent PDCD10 protein. It is unclear how mutations in the PDCD10 gene lead to the formation of cerebral cavernous malformations.
Mutations in the PDCD10 gene account for approximately 10 percent of familial cerebral cavernous malformation cases.
More About This Health ConditionRelated Conditions
Cerebral cavernous malformation
Health Conditions Related to Genetic Changes
More than a dozen mutations in the PDCD10 gene have been identified in families with cerebral cavernous malformations, which are collections of blood vessels in the brain that are weak and prone to leakage. These mutations include a deletion of the entire gene, deletion of small segments of DNA, and changes in single DNA building blocks (nucleotides). These mutations result in an abnormal or absent PDCD10 protein. It is unclear how mutations in the PDCD10 gene lead to the formation of cerebral cavernous malformations.
Mutations in the PDCD10 gene account for approximately 10 percent of familial cerebral cavernous malformation cases.