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67 Possible Causes for High-Arched Palate (61%), Mutation in the PEX26 Gene

Did you mean: High-Arched Palate (61, ), Mutation in the PEX26 Gene

  • Zellweger Syndrome

    CONCLUSION(S): To the best of our knowledge, this is the first successful PGD for ZS caused by mutation in PEX26 gene, with the subsequent delivery of a homozygous normal[ncbi.nlm.nih.gov] palate 50% (4/8) 95% (35/37) present abnormal ears 50% (4/8) 98% (39/40) present high forehead present 97% (58/60) present neonatal seizures no 92% (56/61) 95% (36/38) neuronal[dx.doi.org] Mutations in the PEX1, PEX6, PEX10, PEX12, or PEX26 genes are found in approximately 90% of PBD-ZSS patients.[ncbi.nlm.nih.gov]

  • Moebius Syndrome

    palate (61%) tongue hypoplasia (77%), teeth defects (37%) Limb malformations Syndactyly, oligodactyly, brachydactyly, arthrogryposis, absent trapezius or pectoral muscles[patient.info] 2 ] Associated abnormalities [ 1 ] Orofacial dysmorphism Micrognathia (64% of patients), ocular hypertelorism (25%), epicanthal folds (89%), external ear defects (47%), high-arched[patient.info]

    Missing: Mutation in the PEX26 Gene
  • Neonatal Adrenoleukodystrophy

    […] in the PEX26 gene ( 608666 ) on chromosome 22q11.21; PBD8B ( 614877 ) iscaused by mutation in the PEX16 gene ( 603360 ) on chromosome 11p12-p12.2; and PBD11B ( 614885 ) iscaused[repository.innermed.eu] Genotype-phenotype correlations in disorders of peroxisome biogenesis could be illustrated with the following findings 7 : Frameshift mutations in the PEX genes are associated[centogene.com] […] in the PEX2 gene ( 170993 ) on chromosome 8q21.1; PBD6B ( 614871 ) iscaused by mutation in the PEX10 gene ( 602859 ) on chromosome 1p36.32; PBD7B ( 614873 )iscaused by mutation[repository.innermed.eu]

    Missing: High-Arched Palate (61%)
  • Retinitis Pigmentosa

    . • Infantile Refsum disease (caused by mutation in the PEX1, PEX2 or PEX26 genes) presents with elevated phytanic acid and pigmentary retinopathy with characteristic prominent[doi.org] […] macular involvement. • Adult Refsum disease caused by mutation in the gene encoding phytanoyl-CoA hydroxylase ( PAHX or PHYH ) or the gene encoding peroxin-7 ( PEX7 ) presents[doi.org]

    Missing: High-Arched Palate (61%)
  • Unverricht-Lundborg Syndrome

    CENTOGENE has identified genetic variants associated with neurological diseases in more than 1,000 different genes.[centogene.com] CentoMD is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants.[centogene.com] Zellweger syndrome PEX10 Zellweger syndrome PEX12 Zellweger syndrome PEX13 Zellweger syndrome PEX14 Zellweger syndrome PEX16 Zellweger syndrome PEX19 Zellweger syndrome PEX26[centogene.com]

    Missing: High-Arched Palate (61%)
  • Progressive Myoclonic Epilepsy Type 3

    CENTOGENE has identified genetic variants associated with neurological diseases in more than 1,000 different genes.[centogene.com] CentoMD is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants.[centogene.com] Zellweger syndrome PEX10 Zellweger syndrome PEX12 Zellweger syndrome PEX13 Zellweger syndrome PEX14 Zellweger syndrome PEX16 Zellweger syndrome PEX19 Zellweger syndrome PEX26[centogene.com]

    Missing: High-Arched Palate (61%)
  • Progressive Myoclonic Epilepsy Type 8

    CENTOGENE has identified genetic variants associated with neurological diseases in more than 1,000 different genes.[centogene.com] CentoMD is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants.[centogene.com] Zellweger syndrome PEX10 Zellweger syndrome PEX12 Zellweger syndrome PEX13 Zellweger syndrome PEX14 Zellweger syndrome PEX16 Zellweger syndrome PEX19 Zellweger syndrome PEX26[centogene.com]

    Missing: High-Arched Palate (61%)
  • Lafora Disease

    Perry syndrome Next Generation Sequencing and Sanger Sequencing of the DCTN1 gene Persistent Mullerian Duct Syndrome type II Detection of mutation c.6331del27 in the AMHR2[pentacorelab.hu] Adrenoleukodystrophy, Refsum disease neonatal e infantil, Rhizomelic chondrodysplasia punctata 1 NGS of 15 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26[pentacorelab.hu]

    Missing: High-Arched Palate (61%)
  • Pericardial Effusion

    […] in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 38 71 Matsumoto N...Fujiki Y 12851857[malacards.org] Etiology The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes.[orpha.net] […] patients with a peroxisome biogenesis disorder. 38 71 Gootjes J...Wanders RJ 14630978 2004 26 Zellweger Spectrum Disorder 38 71 Steinberg SJ...Moser AB 20301621 2003 27 Mutations[malacards.org]

    Missing: High-Arched Palate (61%)
  • Cystic Fibrosis

    A sweat test was negative and genetic testing revealed she was heterozygous for CFTR and PEX26 gene mutations.[ncbi.nlm.nih.gov]

    Missing: High-Arched Palate (61%)

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