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242 Possible Causes for LYS382ASN, NR0B1

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  • Adrenal Insufficiency

    RESULTS: We identified genetic defects in 50 (85%) families: STAR in 19, NR0B1 in 18, SAMD9 in seven, AAAS in two, NNT in two, MC2R in one and CDKN1C in one.[] A form of congenital adrenal hypoplasia due to a defect in DAX1 / NR0B1 is also X-linked and, therefore, is confined to males.[] Genetic defects such as NR0B1 defects are presumed based on phenotypes, while others with broad phenotypic variability, such as STAR defects, are difficult to diagnose.[]

    Missing: LYS382ASN
  • Ewing's Sarcoma

    The functional inhibition of the analogues was measured by an EWS-FLI1/NR0B1 reporter luciferase assay and a paired cell screening approach measuring effects on growth inhibition[]

    Missing: LYS382ASN
  • Hypogonadotropic Hypogonadism

    CONCLUSIONS: Two novel DAX1 (NR0B1) mutations were detected in two Chinese families.[] The mRNA expression levels in carriers of mutant NR0B1 were significantly reduced (62% decrease) compared to those in individuals with wild-type NR0B1 (WT).[] Abstract DAX1/NR0B1 mutations are responsible for X-linked congenital adrenal hypoplasia (AHC) associated with hypogonadotropic hypogonadism (HH).[]

    Missing: LYS382ASN
  • Mineralocorticoid

    CONTEXT: Mutations in DAX1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome gene 1; NR0B1) cause X-linked adrenal hypoplasia[]

    Missing: LYS382ASN
  • Cholestasis

    Abbreviations: AHC — adrenal hypoplasia congenita CK — creatine kinase DMD — Duchenne muscular dystrophy GKD — glycerol kinase deficiency NR0B1 — Nuclear Receptor Subfamily[] […] by measuring serum glycerol levels. 3 , 7 When patients are also missing either of both the dystrophin gene and/or the Nuclear Receptor Subfamily 0, Group B, Member 1 ( NR0B1[] Each gene deletion contributes to the phenotype, with the deletion of the dystrophin gene causing weakness and muscle breakdown consistent with DMD, the deletion of the NR0B1[]

    Missing: LYS382ASN
  • 46,XX Testicular Disorder of Sex Development

    […] hypogonadism ; Polycystic ovaries Associated Genes NR5A1 (Withdrawn symbols: AD4BP, ELP, FTZ1, FTZF1, SF-1, SF1, hSF-1 ) , SOX9 (Withdrawn symbols: CMD1, CMPD1, SRA1 ) , NR0B1[] , SRY (Withdrawn symbols: TDF ) , SOX3 (Withdrawn symbols: PHP ) Mouse Orthologs Nr5a1 (Withdrawn symbols: Ftzf1 ) , Sox9 (Withdrawn symbols: 2010306G03Rik, AV220920 ) , Nr0b1[]

    Missing: LYS382ASN
  • Hypogonadism

    NR0B1 mutation analysis was performed by sequence analysis. NR0B1 expression was investigated by RT-PCR.[] We identified NR0B1 variants in the 4 AHC pedigrees: pedigree 1 (United Arab Emirates), c.1130A G predicting p.[] (Leu286_Val287del); pedigree 4 (English Caucasian), c.1168 1G A, a regulatory variant within the NR0B1 splice donor site.[]

    Missing: LYS382ASN
  • Adrenocortical Carcinoma

    Xp21.3 AHC, AHX, DSS, GTD, HHG, AHCH, DAX1, DAX-1, NROB1, SRXY2 - NR0B1 and Adrenocortical Cancer 4 HSD3B2 1p13.1 HSDB, HSD3B, SDR11E2 - HSD3B2 and Adrenocortical Cancer[] Adrenocortical Cancer 5 GATA6 18q11.1-q11.2 - GATA6 and Adrenocortical Cancer 5 RBP3 10q11.2 IRBP, RBPI, RP66, D10S64, D10S65, D10S66 - RBP3 and Adrenocortical Cancer 5 NR0B1[]

    Missing: LYS382ASN
  • Central Precocious Puberty

    Molecular analysis identified a p.Glu3fsAla*16 in NR0B1.[] NR0B1 frameshift mutation in a boy with idiopathic central precocious puberty . Sex Dev 2016; 10 : 205–209. 15.[] We identified an NR0B1 frameshift mutation in a boy with precocious puberty who had no signs of adrenal insufficiency.[]

    Missing: LYS382ASN
  • Retinitis Pigmentosa 23

    […] provided GRCh37: ChrX:49084860 GRCh38: ChrX:49228398 CACNA1F Retinitis pigmentosa Likely benign (May 9, 2017) no assertion criteria provided GRCh37: ChrX:60814-48317386 NR0B1[] FAM47C , SSX4B , ZNF674 , CXorf30 , MAGEB17 , SPACA5B , SUPT20HL1 , ARSD-AS1 not providedPathogenic (Jan 21, 2016) no assertion criteria provided GRCh37: ChrX:168546-46908284 NR0B1[] ZNF674 , CXorf30 , MAGEB17 , SUPT20HL1 , ARSD-AS1 not providedPathogenic (Apr 27, 2018) no assertion criteria provided GRCh37: ChrX:60701-48928877 GRCh38: ChrX:10701-49071220 NR0B1[]

    Missing: LYS382ASN

Further symptoms