Create issue ticket

727 Possible Causes for 22, IVS4AS,, LCAT,, T C

Show results in: 日本語

  • Hypoalphalipoproteinemia

    Linkage analysis was performed by use of 22 STRP markers in a 55-cM region of chromosome 11.[ncbi.nlm.nih.gov] Carriers of LCAT mutation had lower LCAT activity and a tendency to reduced cholesterol esterification rate (CER) and LCAT mass as compared to non-carrier family members.[ncbi.nlm.nih.gov] .(-636)C A, g.(-625)G A, g.(-620)T del, g.(-479C T and g.(-452)T C, located upstream of the apo C-III gene, were in normal range, and no other mutation was found in this region[ncbi.nlm.nih.gov] Nature Genet. 22:336-345,1999.[diagene.ch]

    Missing: IVS4AS
  • Lecithin Acyltransferase Deficiency

    In contrast to these results, longer chains such as 22:0 and 24:0 were decreased, especially in sphingomyelin.[ncbi.nlm.nih.gov] -- Stop mutation in the LCAT gene.[ncbi.nlm.nih.gov] A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder. Genes come in pairs.[nlm.nih.gov] The location of the gene is identified to be on q21-22 region of chromosome 16 . [7] Classification LCAT deficiency is classified based on the quantity of enzyme function[wikidoc.org]

    Missing: IVS4AS
  • Fish-Eye Disease

    Most of the 22 reported cases were homozygous or heterozygous for a Thr-Ile mutation at codon 123 of the lecithin:cholesterol acyltransferase (LCAT) gene.[ncbi.nlm.nih.gov] Direct sequencing of the LCAT gene revealed two novel missense mutations in exon 1 and exon 4, resulting in the substitution of Pro10 with Gln (P10Q) and Arg135 with Gln ([ncbi.nlm.nih.gov] DNA sequence analysis of the proband's LCAT gene showed two C to T transitions resulting in the substitution of Thr123 with Ile and Tyr144 with Cys.[ncbi.nlm.nih.gov] Lipids. 1987 May;22(5):305-11.[ncbi.nlm.nih.gov]

    Missing: IVS4AS
  • Apolipoprotein A-I Deficiency

    They had decreased LCAT function and cholesterol efflux . [22] Demographics, Epidemiology Worldwide, 82 Apo A1 mutations have been reported. [22] The prevalence of Apo A1[wikidoc.org] Mutations in the LCAT (LCAT deficiency, Fish Eye Disease) or ABCA1 gene (Tangier disease) may also be causal for HDL deficiency (hypoalphalipoproteinemia).[medical-genetics.de] Analysis of his APOA1 gene revealed a novel heterozygous mutation with a C to T change at nucleotide 718, resulting in the replacement of a Q for an X at amino acid 240 in[endocrine.org] Hiasa Y, Maeda T, Mori H (1986) Deficiency of apolipoproteins A-I and C-III and severe coronary artery disease. Clin Cardiol 9:349–352 CrossRef PubMed Google Scholar 16.[link.springer.com]

    Missing: IVS4AS
  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    The obtained PCR product was 22 bp shorter than the expected 720 bp.[ncbi.nlm.nih.gov] , TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT[mendelian.co] T (p.Ser192Leu) single nucleotide variant Pathogenic rs199690076 GRCh37 Chromosome 9, 140127675: 140127675 21 SLC34A3 NM_001177317.1(SLC34A3): c.575C T (p.Ser192Leu) single[malacards.org] Accessed March 22, 2016.[rarediseases.org]

    Missing: IVS4AS
  • Disorder of Glycerol Metabolism

    (PMID: 9719371) Sjarif DR … Poll-The BT (Journal of medical genetics 1998) 3 4 22 60 Mutations and phenotype in isolated glycerol kinase deficiency.[genecards.org] PALB2 Fanconi anemia type P SLX4 Fanconi anemia, XRCCR2 related XRCC2 Fanconi-Bickel syndrome SLC2A2 Farber disease ASAH1 Favism, susceptibility to G6PD Fish eye disease LCAT[centogene.com] Twelve additional mutations have been mapped to the G6PC gene: R83H, I341D, G188R, A124T, IVS1DS (mutation in the splice donor site of intron 1), W77R, D38V, IVS4AS (mutation[themedicalbiochemistrypage.org] Kupfer-Stoffwechselstörung Kupfermangel, benigner familiärer Kurzketten-Acyl-CoA-Dehydrogenase-Mangel L-2-Hydroxy-Glutarazidurie L-Arginin:Glycin-Amidinotransferase-Mangel LCAT-Mangel[se-atlas.de]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    Biochem. 22 (1968) 597–605 Google Scholar Depierre, J. W. and Dallner, G. Structural aspects of the membrane of the endoplasmic reticulum. Biochim. Biophys.[link.springer.com] […] encephalopathy Exercise intolerance with lactic acidosis Exercise-induced hyperinsulinism FASTKD2-related infantile mitochondrial encephalomyopathy Fabry disease Familial LCAT[se-atlas.de] Twelve additional mutations have been mapped to the G6PC gene: R83H, I341D, G188R, A124T, IVS1DS (mutation in the splice donor site of intron 1), W77R, D38V, IVS4AS (mutation[themedicalbiochemistrypage.org] […] rs104894566 other, Glycogen storage disease 1A (GSD1A) [MIM:232200] 42,901,105( ) TTAAG(C/T)GGTAA reference, missense rs104894567 Pathogenic, Glycogen storage disease 1A[genecards.org]

  • Glycogen Storage Disease Type 1D

    Vet Pathol 22: 311 – 316 , 1985 . Google Scholar SAGE Journals ISI 3.[doi.org] GALT) Morbus Gaucher (GBA) Glukose-Transport-Defekt (SLC2A1) Morbus McArdle, Glykogenose Typ V (PYGM) GM1-Gangliosidose (GLB1) Morbus Pompe (GAA) HDL-Mangel-Syndrom (APOA1, LCAT[yumpu.com] Twelve additional mutations have been mapped to the G6PC gene: R83H, I341D, G188R, A124T, IVS1DS (mutation in the splice donor site of intron 1), W77R, D38V, IVS4AS (mutation[themedicalbiochemistrypage.org] Chen Y-T, Burchell A. Glycogen Storage Disease. En: The Metabolic and Molecular bases of Inherited Disease. Scriver C, Beaudet AL, Sly WS, et al. eds.[genrevista.org]

  • Gluconeogenesis Disorder

    (PMID: 10960498) Weston BW … Chen YT (Pediatric research 2000) 3 4 22 60[genecards.org] […] neuronal ceroid lipofuscinosis Juvenile sialidosis type 2 Kearns-Sayre syndrome Krabbe disease L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency LCAT[se-atlas.de] Twelve additional mutations have been mapped to the G6PC gene: R83H, I341D, G188R, A124T, IVS1DS (mutation in the splice donor site of intron 1), W77R, D38V, IVS4AS (mutation[themedicalbiochemistrypage.org] Diez Marqués 425 Alcohol Bebidas alcohólicas J Rivas Gonzalo 431 Estabilidad y métodos de conservación de los alimentos M C Vidal Carou M Izquierdo Pulido M T VecianaNogués[books.google.es]

  • Tangier Disease

    Sequence analysis of the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleotides 3283 and 3284 (TC) in exon 22.[ncbi.nlm.nih.gov] METHODS: The ABCA1, apoA-I and LCAT genes of a 40-year-old male subject with serum HDL cholesterol of 0.06mmol/l were subjected to DNA sequencing.[ncbi.nlm.nih.gov] Atherosclerosis. 2009 Sep;206(1):216-22. doi: 10.1016/j.atherosclerosis.2009.02.018. Epub 2009 Feb 25.[ncbi.nlm.nih.gov] Abstract Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i) G C in intron 2 (IVS2 5G C) and ii) c.844 C T in exon 9 (R282X).[ncbi.nlm.nih.gov]

    Missing: IVS4AS