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29 Possible Causes for Mutation in the PIGO Gene, Profound Psychomotor Developmental Delay

  • Mental Retardation

    By exome sequencing, we detected compound-heterozygous mutations in PIGO, a gene coding for a membrane protein of the same molecular pathway, in two siblings with HPMRS, and[ncbi.nlm.nih.gov] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.[ncbi.nlm.nih.gov] To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe[ncbi.nlm.nih.gov]

  • Hyperphosphatasia with Mental Retardation Syndrome 2

    PIGO gene, such as PIGV gene, is coinvolved in the glycosylphosphatidylinositol (GPI) anchor synthesis pathway, and PIGO mutations lead to a defect in GPI anchor synthesis[iofbonehealth.org] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech , psychomotor delay, and postnatal microcephaly .[pesquisa.bvsalud.org] Mutations in PIGO gene results in hyperphosphatasia with mental retardation (HPMRS).[sigmaaldrich.com]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    PIGO gene, such as PIGV gene, is coinvolved in the glycosylphosphatidylinositol (GPI) anchor synthesis pathway, and PIGO mutations lead to a defect in GPI anchor synthesis[iofbonehealth.org] Definition An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly[uniprot.org] Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome See also HPMRS2 ({614749}), caused by mutation in the PIGO gene ({614730}) on chromosome 9p13;[diseaseinfosearch.org]

  • Paroxysmal Nocturnal Hemoglobinuria

    Mutations in PIGO , PIGV , PGAP2 and PGAP3 affect enzymes that are involved in proper assembly of GPI anchors.[epilepsygenetics.net] Mutations in these genes often lead to intellectual disability with hyperphosphatasia. Many of these patients also have seizures.[epilepsygenetics.net]

    Missing: Profound Psychomotor Developmental Delay
  • Horseshoe Kidney

    Developmental and behavior In older children with trisomy 18 significant developmental delay is always present ranging from a marked to profound degree of psychomotor and[doi.org]

    Missing: Mutation in the PIGO Gene
  • Hereditary Hyperphosphatasia

    Pathogenesis 1) Caused by mutations in GPI biosynthesis and attachment genes: PIG gene deficiencies (PIGA, PIGQ, PIGY, PIGL, PIGW, PIGM, PIGV, PIGN, PIGO, PIGG, PIGT deficiencies[igd.biken.osaka-u.ac.jp] ) 2) Caused by mutations in genes involved in the modification of GPI-APs: PGAP gene deficiencies (PGAP1, PGAP3, PGAP2 deficiencies) 3) Caused by genes other than GPI pathway[igd.biken.osaka-u.ac.jp]

    Missing: Profound Psychomotor Developmental Delay
  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    Pathogenesis 1) Caused by mutations in GPI biosynthesis and attachment genes: PIG gene deficiencies (PIGA, PIGQ, PIGY, PIGL, PIGW, PIGM, PIGV, PIGN, PIGO, PIGG, PIGT deficiencies[igd.biken.osaka-u.ac.jp] ) 2) Caused by mutations in genes involved in the modification of GPI-APs: PGAP gene deficiencies (PGAP1, PGAP3, PGAP2 deficiencies) 3) Caused by genes other than GPI pathway[igd.biken.osaka-u.ac.jp]

    Missing: Profound Psychomotor Developmental Delay
  • Isolated Congenital Auditory Ossicle Malformation

    Mental and psychomotor developmental delay was noted. Figure 1 The proband aged 18 months. (A, B) Note facial dysmorphism (see text). (C) He cannot stand unsupported.[jmg.bmj.com] Audiometric examinations were consistent with these findings and showed conductive and profound sensorineural hearing loss.[jmg.bmj.com]

    Missing: Mutation in the PIGO Gene
  • Trisomy 8q

    Psychomotor retardation is always severe-to-profound.[lirias.kuleuven.be] The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay.[lirias.kuleuven.be]

    Missing: Mutation in the PIGO Gene
  • Hyperphosphatasia - Intellectual Disability Syndrome

    Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome See also HPMRS2 ({614749}), caused by mutation in the PIGO gene ({614730}) on chromosome 9p13;[diseaseinfosearch.org] Note The disease is caused by mutations affecting the gene represented in this entry. The function about PIGO antigen include molecular_function; transferase activity.[creative-diagnostics.com] Mutations in the PIGO , a member of the GPI-Anchor-Synthesis Pathway, cause hyperphosphastasia with mental retardation. Am J Hum Genet . 91(1): 146–151. 2012.[egl-eurofins.com]

    Missing: Profound Psychomotor Developmental Delay

Further symptoms