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5,913 Possible Causes for (allelic, Hutchinson Gilford, Progeria, Syndrome, variant)

  • Cockayne Syndrome

    RESULTS: We identified a novel homozygous ERCC6 variant at the donor splice site of intron 9 (c.1992 3A G), which was predicted to only slightly perturb splicing efficiencies[ncbi.nlm.nih.gov] Only a minor fraction of XPG mRNA was encoded by this allele. The second, more significantly expressed XPG allele contained a 215C-- A transversion.[ncbi.nlm.nih.gov] They also compared Cockayne syndrome to what is now known as HutchinsonGilford progeria syndrome (HGPS), then called progeria, due to the advanced aging that characterizes[en.wikipedia.org] It has been considered a progeria, and many of the clinical features resemble accelerated aging.[ncbi.nlm.nih.gov] There are no guidelines for prevention of Cockayne syndrome. Cockayne Syndrome is a congenital autosomal recessive condition that has been categorized as rare.[symptoma.com]

  • Werner Syndrome

    Remarkably, centenarian studies revealed WRN and LMNA polymorphic variants among those who have escaped various geriatric disorders.[ncbi.nlm.nih.gov] The results suggest that Japanese subjects bearing at least one A allele of rs2230009 of the WRN gene are at a significantly higher risk of femoral fracture, possibly due[ncbi.nlm.nih.gov] The Hutchinson-Gilford Progeria (HGP) and Werner Syndrome (WS) are two premature aging diseases showing features of common natural aging early in life.[ncbi.nlm.nih.gov] Progeria , also known as Hutchinson-Gilford progeria syndrome (HGPS), is a rare genetic condition that causes a child's body to age fast.[webmd.com] Abstract Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene.[ncbi.nlm.nih.gov]

  • Generalized Lipodystrophy

    Twenty-six pedigrees harbored mutations, including seven novel variants, in the AGPAT2 gene, and 11 pedigrees harbored mutations in the BSCL2 gene, including five novel variants[ncbi.nlm.nih.gov] As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia[ncbi.nlm.nih.gov] Background: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia ,[ncbi.nlm.nih.gov] […] dictionary Metabolic syndrome — Dysmetabolic syndrome X Classification and external resources An obese male.[medicine.academic.ru] Homozygosity mapping coupled with candidate gene sequencing is an effective tool for identifying the causative pathogenic variants in familial cases.[ncbi.nlm.nih.gov]

  • Progeria

    We report a hitherto unreported compound cardiac phenotype, dubbed as "non-syndromic cardiac progeria", in a young patient who carried a rare pathogenic variant in the LMNA[ncbi.nlm.nih.gov] All molecularly characterized autosomal dominant HGP cases described so far result from de novo LMNA mutations, mostly originating on the paternal allele and are often linked[ncbi.nlm.nih.gov] Abstract Hutchinson-Gilford progeria syndrome is an extremely rare condition of premature aging.[ncbi.nlm.nih.gov] All these tests confirm the diagnosis of progeria. So far, no breakthrough has been made for treating progeria. Progeria has no cure.[symptoma.com] This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems.[ncbi.nlm.nih.gov]

  • Cataract

    PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract[ncbi.nlm.nih.gov] It is characterized by the appearance of unusually accelerated aging (progeria) including bilateral senile cataract.[ncbi.nlm.nih.gov] Variant segregation was consistent with autosomal recessive inheritance and the missense substitution was predicted to be pathogenic.[ncbi.nlm.nih.gov] However, this syndrome is still a poorly understood.[ncbi.nlm.nih.gov] This study aimed to investigate the combined effects of different genetic variants on ARC risk.[ncbi.nlm.nih.gov]

  • Pravastatin

    […] the variant.[ncbi.nlm.nih.gov] METHODS: Thirty-seven participants with Hutchinson-Gilford progeria syndrome received pravastatin, zoledronic acid, and lonafarnib.[ncbi.nlm.nih.gov] DIAGNOSES: Severe, recurrent early-onset HELLP syndrome. INTERVENTIONS: In her fourth pregnancy, pravastatin was commenced at GA 13.[ncbi.nlm.nih.gov] […] clearance among patients that exhibit SCLO1B1 polymorphism SLCO1B1 CC genotype is most common in Caucasians and Asians (15%) Risk of myopathy is 2.6- to 4.3-fold higher if the C allele[reference.medscape.com] Abstract Pregnant women with antiphospholipid syndrome (APS) are at a high risk of obstetrical complications.[ncbi.nlm.nih.gov]

  • Alstrom Syndrome

    In total, 79 disease-causing variants were identified, of which 55 are novel mutations.[ncbi.nlm.nih.gov] […] study the population dynamics of deleterious alleles in isolated communities.[ncbi.nlm.nih.gov] Sindrom Progeria Hutchinson-Gilford Progeria adalah kelainan genetik yang sangat langka dimana penyakit ini membuat fisik bayi menua dengan cepat.[ragamlampung.com] Alstrom syndrome is a rare genetic disorder with an autosomal recessive pattern of inheritance.[symptoma.com] Abstract Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome.[ncbi.nlm.nih.gov]

  • Marfan Syndrome

    The protective effect of TGFBR1/2 genetic score including all the 4 variants was also evaluated.[ncbi.nlm.nih.gov] KEYWORDS: Congenital lipodystrophy; Fibrillinopathy; Marfanoïd features; Neonatal progeria[ncbi.nlm.nih.gov] Marfan syndrome becomes more obvious as changes occur in connective tissue.[symptoma.com] Both individuals were heterozygous for the R2726W variant.[ncbi.nlm.nih.gov] […] system compared with carriers of only one mutated FBN1 allele.[ncbi.nlm.nih.gov]

  • Premature Aging

    CONCLUSION: Therefore, patients with this variant may be treated with SOD3 as a therapeutic strategy to prevent or cure these diseases.[ncbi.nlm.nih.gov] Allelic skewing of DNA methylation is widespread across the genome. Am J Hum Genet. 2010;86(2):196–212.[clinicalepigeneticsjournal.biomedcentral.com] The Hutchinson-Gilford Progeria (HGP) and Werner Syndrome (WS) are two premature aging diseases showing features of common natural aging early in life.[ncbi.nlm.nih.gov] " progeria syndromes (APS) that are later in onset.[ncbi.nlm.nih.gov] Abstract The premature aging syndromes are a rare eccentric group of syndromes in which predominantly senile features develop prematurely.[ncbi.nlm.nih.gov]

  • Sudden Infant Death Syndrome

    CONCLUSION: Our study did not replicate published associations of IL10 variants with SIDS.[ncbi.nlm.nih.gov] In our study population, the allelic frequency of the 9.3 allele is similarly distributed in SIDS cases and controls (27.2% vs. 25.6%; p-value 0.562).[ncbi.nlm.nih.gov] […] duPont Hospital for Children Click here for Patient Education Miscellaneous Disorders in Infants and Children ALTE and BRUE Failure to Thrive (FTT) Kawasaki Disease (KD) Progeria[msdmanuals.com] Abstract We report a child with Sudden Infant Death Syndrome (SIDS), aged 16 months.[ncbi.nlm.nih.gov] Syndrome, Task Force on Sudden Infant Death (24 October 2016).[en.wikipedia.org]

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