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62 Possible Causes for HCRT, gene

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  • Knobloch Syndrome Type 1

    , severe congenital 3, autosomal recessive Sequencing of all coding exons of the gene - - 0.8 HCN4 Sick Sinus Syndrome Sequencing of all coding exons of the gene - - 3.6 HCRT[cegat.de] Although genetic heterogeneity has been suspected, COL18A1 is the only known KS disease gene to date.[ncbi.nlm.nih.gov] Identification of ADAMTS18 as a gene mutated in Knobloch syndrome Mohammed A Aldahmesh 1 , Arif O Khan 1 , 2 , Jawahir Y Mohamed 1 , Hisham Alkuraya 1 , 2 , Hala Ahmed 3 ,[doi.org]

  • Hereditary Hyperekplexia

    […] disease gene.[ncbi.nlm.nih.gov] HBG2 (Fetal hemoglobin quantitative trait locus 1) HCCS (Microphthalmia, syndromic 7) HCF2 (Thrombophilia due to heparin cofactor II deficiency) HCN4 (Brugada syndrome 8) HCRT[en.praenatal-medizin.de] , severe congenital 3, autosomal recessive Sequencing of all coding exons of the gene - - 0.8 HCN4 Sick Sinus Syndrome Sequencing of all coding exons of the gene - - 3.6 HCRT[cegat.de]

  • ROHHAD Syndrome

    Weese-Mayer 17 March 2016 Takeshi Sato 5 November 2013 17 March 2016 Elimination of HCRT as a candidate ROHHAD gene Sarah F.[pediatrics.aappublications.org] […] literature. ( 22715259 ) 2011 28 Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes[malacards.org] NTRK2 gene BDNF gene Accepted January 26, 2007.[doi.org]

  • Autosomal Dominant Cerebellar Ataxia - Deafness - Narcolepsy

    Cerebrospinal fluid hypocretin is low suggesting that loss of hcrt cells causes the narcolepsy phenotype.[rigshospitalet.dk] Mutations in exon 20 of this gene were recently reported to cause hereditary sensory neuropathy with dementia and hearing loss (HSAN1).[ncbi.nlm.nih.gov] 3, yeast)-like 2 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) AFG3 ATPase family gene 3-like 2 (yeast) AFG3 ATPase family member 3-like 2 (S. cerevisiae) AFG3-like AAA[ukgtn.nhs.uk]

  • FGFR2-Related Bent Bone Dysplasia

    , severe congenital 3, autosomal recessive Sequencing of all coding exons of the gene - - 0.8 HCN4 Sick Sinus Syndrome Sequencing of all coding exons of the gene - - 3.6 HCRT[cegat.de] Bent bone dysplasia syndrome Bent bone dysplasia syndrome ( BBDS ; MIM 614592) is an autosomal dominant perinatal lethal skeletal dysplasia caused by mutations in the FGFR2 gene[ctgt.net] LETTER TO THE EDITOR Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr‐381 residue in FGFR2 gene Corresponding Author Service de Biochimie[doi.org]

  • Narcolepsy

    Narcoleptics have an approximately 90% loss of Hcrt neurons and commensurate reductions in the levels of Hcrt in their cerebrospinal fluid beginning at disease onset, usually[ncbi.nlm.nih.gov] Genes Immun. 2017 Mar;18(2):75-81. doi: 10.1038/gene.2017.1. Epub 2017 Mar 23.[ncbi.nlm.nih.gov] Conclusions: A significant role of orexin/hcrt-specific T cells in narcolepsy type 1 patients could not be confirmed in this study.[ncbi.nlm.nih.gov]

  • Cerebellar Ataxia - Mental Retardation - Dysequilibrium Syndrome

    , severe congenital 3, autosomal recessive Sequencing of all coding exons of the gene - - 0.8 HCN4 Sick Sinus Syndrome Sequencing of all coding exons of the gene - - 3.6 HCRT[cegat.de] Back to results Cerebellar ataxia, mental retardation and dysequilibrium syndrome 4 (sequence analysis of ATP8A2 gene) ATP8A2 Request Now Methodology NGS Specimen Requirements[cgcgenetics.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Hypomyelination and Congenital Cataract

    , severe congenital 3, autosomal recessive Sequencing of all coding exons of the gene - - 0.8 HCN4 Sick Sinus Syndrome Sequencing of all coding exons of the gene - - 3.6 HCRT[cegat.de] Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: FAM126A ( 1 gene ) Coverage[fulgentgenetics.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Mannose-Binding Lectin Deficiency

    Common variant alleles in exon 1 of the MBL2 gene (R52C, rs5030737; G54D, rs1800450; G57E, rs1800451) were genotyped.[ncbi.nlm.nih.gov] Methods: 470 patients with adult non-cystic fibrosis bronchiectasis (confirmed by HCRT) and matched controls were recruited. MBL serum levels were measured by ELISA.[erj.ersjournals.com] Different studies reported correlation between polymorphism in the MBL gene with low levels of MBL in serum and higher frequency of recurrent infections, severity of sepsis[clinicaltrials.gov]

  • Multisystemic Smooth Muscle Dysfunction Syndrome

    , severe congenital 3, autosomal recessive Sequencing of all coding exons of the gene - - 0.8 HCN4 Sick Sinus Syndrome Sequencing of all coding exons of the gene - - 3.6 HCRT[cegat.de] […] tract (CAKUT) (WES based NGS panel for 66 genes) Mental retardation (WES based NGS panel for 1501 genes)[cgcgenetics.com] Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene[rcpa.edu.au]

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