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298 Possible Causes for ARG4187CYS, HUWE1

  • X-Linked Intellectual Disability Type Turner

    Froyen G, et al. (2008) No - 2 Support Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.[gene.sfari.org] A third family was also found to have a novel HUWE1 mutation.[bmjopen.bmj.com] […] of HUWE1 -related XLID in an individual in whom sequence analysis was negative.[egl-eurofins.com]

    Missing: ARG4187CYS
  • X-linked Intellectual Disability Type Wilson

    In summary, HUWE1 missense variants may cause syndromic ID in both males and females.[imm.ox.ac.uk] MEHMO (EIF2S3) Aarskog (FGDY) b ll d i (OPHN XLID-choreoathetosis (HADH2) Cornelia de Lange, X-linked (SMC1L1, SMC1A) Goltz (PORCN) XLID-macrocephaly Juberg-Marsidi-Brooks (HUWE1[passeidireto.com] Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID).[imm.ox.ac.uk]

    Missing: ARG4187CYS
  • X-linked Intellectual Disability Type Raymond

    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients..[dial.uclouvain.be] […] our patients gaining publicity on the front page of the Times (3 August 2011) as the first within the UK to have a clinically applied whole genome sequence (mutation in HUWE1[imm.ox.ac.uk] Backe PH , Pellegrino S , Raymond FL , Froyen G , Altmeyer M , Bjørås M , Dianov GL , Loon BV (2018) Publisher Correction: Impaired oxidative stress response characterizes HUWE1[ous-research.no]

    Missing: ARG4187CYS
  • X-linked Intellectual Disability Type Abidi

    A third family was also found to have a novel HUWE1 mutation.[bmjopen.bmj.com] (submitted) Juberg‐Marsidi syndrome and Brooks syndrome are allelic X‐linked intellectual disability syndrome due to a single mutation (p.G4310R) in HUWE1.[els.net] […] behavioural or neurodevelopmental disorders Neurodevelopmental disorders 6A00 Disorders of intellectual development H00658 Syndromic X-linked mental retardation Gene (MRXST) HUWE1[genome.jp]

    Missing: ARG4187CYS
  • X-Linked Syndromic Mental Retardation 11

    Froyen G, et al. (2008) No - 2 Support Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.[gene.sfari.org] Cornelia de Lange syndrome 5 HMGB3 Microphthalmia, syndromic 13 HNRNPH2 Mental retardation, X-linked, Bain type HPRT1 Lesch-Nyhan syndrome HSD17B10 Mental retardation, X-linked HUWE1[preventiongenetics.com] […] jp08403 ] 06 Mental, behavioural or neurodevelopmental disorders Neurodevelopmental disorders 6A00 Disorders of intellectual development H00658 X連鎖精神遅滞症候群 病因遺伝子 (MRXST) HUWE1[genome.jp]

    Missing: ARG4187CYS
  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    A third family was also found to have a novel HUWE1 mutation.[bmjopen.bmj.com] […] jp08403 ] 06 Mental, behavioural or neurodevelopmental disorders Neurodevelopmental disorders 6A00 Disorders of intellectual development H00658 X連鎖精神遅滞症候群 病因遺伝子 (MRXST) HUWE1[genome.jp] Table 1 Comparison of findings in families with missense mutations and duplications of HUWE1 * Figure 1 Pedigrees of families with HUWE1 mutations.[bmjopen.bmj.com]

    Missing: ARG4187CYS
  • X-linked Non-Syndromic Intellectual Disability 30

    (submitted) Juberg‐Marsidi syndrome and Brooks syndrome are allelic X‐linked intellectual disability syndrome due to a single mutation (p.G4310R) in HUWE1.[els.net] BRWD3, CASK, CCDC22, CDK16, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HPRT1, HSD17B10, HUWE1[eurofinsclinicalgenetics.co.in] Cornelia de Lange syndrome 5 HMGB3 Microphthalmia, syndromic 13 HNRNPH2 Mental retardation, X-linked, Bain type HPRT1 Lesch-Nyhan syndrome HSD17B10 Mental retardation, X-linked HUWE1[preventiongenetics.com]

    Missing: ARG4187CYS
  • X-Linked Non-Syndromic Intellectual Disability

    (submitted) Juberg‐Marsidi syndrome and Brooks syndrome are allelic X‐linked intellectual disability syndrome due to a single mutation (p.G4310R) in HUWE1.[els.net] BRWD3, CASK, CCDC22, CDK16, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HPRT1, HSD17B10, HUWE1[eurofinsclinicalgenetics.co.in] XLR 17 HCCS 300056 Microphthalmia, syndromic 7 XLD 2 HPRT1 308000 Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome XLR 8 HSD17B10 300256 HSD10 mitochondrial disease XLD 7 HUWE1[centogene.com]

    Missing: ARG4187CYS
  • X-Linked Intellectual Disability due to GRIA3 Anomalies

    DLG3 DNMT3A DYNC1H1 DYRK1A EHMT1 EIF2S3 EPB41L1 ERLIN2 EZR FBXO31 FLNA FMN2 FMR1 FOXG1 FOXP1 FRMPD4 FTSJ1 GATAD2B GDI1 GRIA3 GRIK2 GRIN2A GRIN2B HCFC1 HERC2 HPRT1 HSD17B10 HUWE1[nextgenerationsequencing.info] XLR 17 HCCS 300056 Microphthalmia, syndromic 7 XLD 2 HPRT1 308000 Lesch-Nyhan syndrome; Kelley-Seegmiller syndrome XLR 7 HSD17B10 300256 HSD10 mitochondrial disease XLD 7 HUWE1[centogene.com] Cornelia de Lange syndrome 5 HMGB3 Microphthalmia, syndromic 13 HNRNPH2 Mental retardation, X-linked, Bain type HPRT1 Lesch-Nyhan syndrome HSD17B10 Mental retardation, X-linked HUWE1[preventiongenetics.com]

    Missing: ARG4187CYS
  • Atypical HSD10 Disease

    Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated[pubman.mpdl.mpg.de] Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.[humpath.com] A chromosomal microduplication involving HSD17B10 and HUWE1 has been found in patients with mental retardation.[uniprot.org]

    Missing: ARG4187CYS

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