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6 Possible Causes for Mutation in the VPS53 Gene, Reported in Individuals of Jewish Moroccan Ancestry

  • Pontocerebellar Hypoplasia Type 2E

    The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com] Gene Human Gene Mutation Database (HGMD) VPS53 SNPedia medical, phenotypic, and genealogical associations of SNPs for VPS53 SNP Genotyping and Copy Number Assay Products[genecards.org]

  • Autosomal Recessive Primary Microcephaly Type 10

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[mendelian.co] […] in the TSEN34 gene ( OMIM ) on chromosome 19q13.[mendelian.co]

    Missing: Reported in Individuals of Jewish Moroccan Ancestry
  • Familial Infantile Bilateral Striatal Necrosis

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[mendelian.co] […] in the TSEN34 gene ( OMIM ) on chromosome 19q13.[mendelian.co]

    Missing: Reported in Individuals of Jewish Moroccan Ancestry
  • Valinemia

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[mendelian.co] […] in the TSEN34 gene ( OMIM ) on chromosome 19q13.[mendelian.co]

    Missing: Reported in Individuals of Jewish Moroccan Ancestry
  • Cerebellar Hypoplasia and Atrophy

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[mendelian.co] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[mendelian.co] […] in the TSEN34 gene ( OMIM ) on chromosome 19q13.[mendelian.co]

    Missing: Reported in Individuals of Jewish Moroccan Ancestry
  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    PCH2E is caused by changes (mutations) in the VPS53 gene and is inherited in an autosomal recessive manner.[nipd.com]

    Missing: Reported in Individuals of Jewish Moroccan Ancestry

Further symptoms