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21 Possible Causes for Caused by Mutation in the Seipin Gene

  • Upper Motor Neuron Disease

    Spastic paraplegia 17 (SPG17) is caused by mutations in the seipin gene on chromosome 11q12-q14.[clinicalgate.com] […] in this same gene can also cause Pelizaeus-Merzbacher disease).[clinicalgate.com] L1CAM) may disrupt neuronal migration or differentiation; in the second mutant proteolipid protein (PLP1) is found in association with changes in white matter (duplication mutations[clinicalgate.com]

  • Distal Hereditary Motor Neuropathy Type 1

    Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape.[ghr.nlm.nih.gov] Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V .[ghr.nlm.nih.gov] The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown.[ghr.nlm.nih.gov]

  • Distal Hereditary Motor Neuropathy

    Congenital Lipodystrophy 2 (BSCL2) gene or Seipin.[ncbi.nlm.nih.gov] Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape.[ghr.nlm.nih.gov] BACKGROUND: Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip[ncbi.nlm.nih.gov]

  • Generalized Lipodystrophy

    No seipin mutation was found in any exon in one patient.[ncbi.nlm.nih.gov] We did not find any AGPAT2 mutations in our Japanese patients, suggesting that AGPAT2 is a minor causative gene, if any, for CGL in Japanese.[ncbi.nlm.nih.gov] genes for CGL.[ncbi.nlm.nih.gov]

  • Distal Hereditary Motor Neuropathy Type 5

    Mutations in the BSCL2 gene likely alter the structure of seipin, causing it to fold into an incorrect 3-dimensional shape.[ghr.nlm.nih.gov] Mutations in the BSCL2 and GARS genes cause distal hereditary motor neuropathy, type V .[ghr.nlm.nih.gov] The BSCL2 gene provides instructions for making a protein called seipin, whose function is unknown.[ghr.nlm.nih.gov]

  • Lower Motor Neuron Syndrome with Late-Adult Onset

    Spastic paraplegia 17 (SPG17) is caused by mutations in the seipin gene on chromosome 11q12-q14.[clinicalgate.com] […] in this same gene can also cause Pelizaeus-Merzbacher disease).[clinicalgate.com] L1CAM) may disrupt neuronal migration or differentiation; in the second mutant proteolipid protein (PLP1) is found in association with changes in white matter (duplication mutations[clinicalgate.com]

  • Acquired Generalized Lipodystrophy

    Simha V et al. (2003) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes[moldiag.com] Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J. Clin.[doi.org]

  • Lipodystrophy

    Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.[dmsjournal.biomedcentral.com] Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or Seipin genes.[ncbi.nlm.nih.gov] Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J. Clin.[dx.doi.org]

  • Acquired Partial Lipodystrophy

    Simha V et al. (2003) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes[moldiag.com]

  • Familial Partial Lipodystrophy

    This gene is located in chromosome 11q13 and encodes a 398-amino-acid protein called seipin. 24 The BSCL2 gene mutation has been found in patients of European and Middle Eastern[clinicalgate.com] […] origins but has also been reported as a causative gene in Japanese patients with CGL.[clinicalgate.com] Seipin is expressed diffusely in many tissues but predominantly in testis and brain; its function in humans is largely unknown.[clinicalgate.com]

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