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93 Possible Causes for CIRH1A, gene

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  • Indian Childhood Cirrhosis

    Abstract Cirhin (NP_116219), the product of the CIRH1A gene is mutated in North American Indian childhood cirrhosis (NAIC/CIRH1A, OMIM 604901), a severe autosomal recessive[ncbi.nlm.nih.gov] These results provide significant evidence of linkage for a candidate gene on chromosome 16q22.[ncbi.nlm.nih.gov] All NAIC patients are homozygous for a missense mutation (R565W) in CIRH1A, the human homolog of the yeast nucleolar protein Utp4.[ncbi.nlm.nih.gov]

  • Hereditary North American Indian Childhood Cirrhosis

    292 3 KIAA1988 4 CPERP-E 4 TEX292 3 NAIC 3 External Ids for UTP4 Gene Previous HGNC Symbols for UTP4 Gene This gene encodes a WD40-repeat-containing protein that is localized[genecards.org] We mapped NAIC to chromosome 16q22, and identified mutations in CIRH1A in patients.[ncbi.nlm.nih.gov] (NAIC/CIRH1A, OMIM 604901), a severe autosomal recessive intrahepatic cholestasis.[semanticscholar.org]

  • Atrichia with Papular Lesions

    To confirm the diagnosis of APL and to identify the specific mutation, we sequenced the hairless gene.[ncbi.nlm.nih.gov] DNAH11 Ciliary dyskinesia, primary, 9, with or without situs inversus; 612444; DNAI2 CINCA syndrome; 607115; NLRP3 Cirrhosis, North American Indian childhood type; 604901; CIRH1A[howlingpixel.com] On the basis of a linkage analysis of this kindred using six microsatellite markers spanning the human hairless gene region, we found that the APL locus maps to chromosome[ncbi.nlm.nih.gov]

  • Benign Recurrent Intrahepatic Cholestasis Type 1

    The ATP8B1 gene, located on the long arm of chromosome 18 (18q21-q22), belongs to the family of ATP (superfamily ATPase) gene.[ivami.com] […] cell fate during embryogenesis PKHD1: ARPKD (fibrocystin -important in ciliary function and tubulogenesis) PRKCSH: ADPLD (hepatocystin) ABCC2: Dubin-Johnson syndrome (MRP2) CIRH1A[gutsandgrowth.wordpress.com] Previous HGNC Symbols for ATP8B1 Gene Previous GeneCards Identifiers for ATP8B1 Gene GC18P055466 GC18M055290 GC18M055100 GC18M053464 GC18M053466 GC18M052024 GC18M055313 This[genecards.org]

  • Neuronal Ceroid Lipofuscinosis

    Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database ().[ncbi.nlm.nih.gov] CHD2 CHD7 CHEK2 CHKB CHL1 CHM CHMP1A CHMP2B CHMP4B CHN1 CHRDL1 CHRM3 CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNB1 CHRNB2 CHRND CHRNE CHRNG CHST14 CHST3 CHST6 CHST8 CHSY1 CIB2 CIITA CIRH1A[csbg.cnb.csic.es] CLN12 is caused by pathogenic variants in the ATP13A2 gene.[preventiongenetics.com]

  • Anauxetic Dysplasia

    RMRP related disorders - The RMRP gene encodes an RNA component of an enzyme involved in the processing of mitochondrial RNA.[ctgt.net] CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA7, CHRNA9, CHRNB1, CHRNB2, CHRNB4, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST6, CHST8, CHSY1, CHUK, CIB2, CIC, CIDEA, CIDEC, CIITA, CILP, CIRH1A[inteligene.com.br] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    We identified three novel mutations in the PCNT gene, including one single base alteration (9842A C in exon 45) and two deletions (Del-C in exon 30 and Del-16 in exon 41).[ncbi.nlm.nih.gov] DNAH11 Ciliary dyskinesia, primary, 9, with or without situs inversus; 612444; DNAI2 CINCA syndrome; 607115; NLRP3 Cirrhosis, North American Indian childhood type; 604901; CIRH1A[howlingpixel.com] Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C T, evidencing a new mutation not reported in the literature for microcephalic[ncbi.nlm.nih.gov]

  • Hereditary Hyperekplexia

    Thus, we found no evidence to support a deficit in the cerebral cortex in patients with hereditary hyperekplexia due to mutations in the GLRA1 gene.[ncbi.nlm.nih.gov] […] type) CHST3 (Spondyloepiphyseal dysplasia with congenital joint dislocations) CHST6 (Macular corneal dystrophy) CHUK (Cocoon syndrome) CHX10 (Microphthalmia, isolated 2) CIRH1A[en.praenatal-medizin.de] Mutations in other genes such as the glycine receptor beta subunit gene ( GLRB ; HKPX2, OMIM614619) [ 6 ], the glycine transporter solute carrier family 6 member 5 gene ([jmedicalcasereports.biomedcentral.com]

  • Musculocontractural Ehlers-Danlos Syndrome

    We identified a previously unreported mutation in the CHST14 gene, which codes for the enzyme dermatan 4-O-sulfotransferase.[ncbi.nlm.nih.gov] […] syndrome, CHUK % 99% Cocoon syndrome, CIB % 100% Deafness, autosomal recessive 48, Usher syndrome, type IJ, CIITA % 96% Bare lymphocyte syndrome type II complementation group A CIRH1A[docplayer.net] Homozygous nonsense and missense mutations were identified in CHST14 gene in each of families.[omicsonline.org]

  • Jalili Syndrome

    This syndrome is caused by mutations in the CNNM4 gene.[ncbi.nlm.nih.gov] DNAH11 Ciliary dyskinesia, primary, 9, with or without situs inversus; 612444; DNAI2 CINCA syndrome; 607115; NLRP3 Cirrhosis, North American Indian childhood type; 604901; CIRH1A[howlingpixel.com] […] denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene[ncbi.nlm.nih.gov]

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