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1,053 Possible Causes for GLY608SER, Hutchinson Gilford, Progeria, SYNDROME

  • Werner Syndrome

    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] Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Huang S, Lee L, Hanson NB, Lenaerts C, Hoehn H, Poot M, Rubin CD, Chen DF, Yang CC, Juch[ghr.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] Classical Hutchinson-Gilford progeria syndrome (HGPS) is caused by LMNA mutations that generate an alternatively spliced form of lamin A, termed progerin.[ncbi.nlm.nih.gov]

    Missing: GLY608SER
  • Cockayne Syndrome

    , progressive neurological dysfunction, and intellectual deficit Neill-Dingwall syndrome, Kenny Syndrome Neill-Dingwall syndrome Cockayne's syndrome HutchinsonGilford progeria[wikidata.org] She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood[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] Cockayne Syndrome. 2000 Dec 28 [updated 2012 Jun 14].[ghr.nlm.nih.gov]

    Missing: GLY608SER
  • Progeria

    Lamin A truncation in Hutchinson-Gilford progeria.[ncbi.nlm.nih.gov] This syndrome presents alterations in many organs and systems such as the skin and the skeletal and cardiovascular systems.[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] Homepage Rare diseases Search Search for a rare disease Hutchinson-Gilford progeria syndrome Disease definition Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal[orpha.net]

    Missing: GLY608SER
  • Wiedemann-Rautenstrauch Syndrome

    DeBusk FL (1972) The Hutchinson-Gilford progeria syndrome. J Pediatr 80:697–724 Google Scholar 6.[doi.org] […] subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism neonatal progeroid syndrome Wiedemann-Rautenstrauch Syndrome PROGEROID SYNDROME, NEONATAL edit English[wikidata.org] L.: The Hutchinson-Gilford progeria syndrome. J. of Pediatr. 80 , 697 (1972) Google Scholar Djupesland, T.: Progeria.[doi.org] DeBusk FL (1972) The Hutchinson-Gilford progeria syndrome. J Pediatr 80:697–724 Google Scholar 2.[doi.org]

    Missing: GLY608SER
  • Nestor-Guillermo Progeria Syndrome

    We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., HutchinsonGilford progeria syndrome or mandibuloacral[scinapse.io] Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor-Guillermo progeria syndrome (NGPS).[brain-aging.com] Names and Terminology for Nestor-guillermo progeria syndrome Other Names : NGPS; Progeria syndrome , childhood-onset , with osteolysis ; PSCOO Source: GARD (NIH) 1 • • • PROGERIA[familydiagnosis.com] […] osteonecrosis of the mandible: Possible application for intermittent low‐dose parathyroid hormone [rhPTH(1‐34)] Harper, RP; Fung, E HutchinsonGilford progeria syndrome:[deepdyve.com]

    Missing: GLY608SER
  • Hydrocephalus

    (syndromic hydrocephalus).[ncbi.nlm.nih.gov] Abstract The authors present a case of a young girl affected by a syndromal hydrocephalus who developed a bilateral ossified chronic subdural hematoma with the typical radiological[ncbi.nlm.nih.gov] KEYWORDS: cholelithiasis; hydrocephalus; neonatal Bartter syndrome[ncbi.nlm.nih.gov] CONCLUSIONS: GLHS is an uncommon neurocutaneous syndrome, possibly a sporadic condition that is underdiagnosed.[ncbi.nlm.nih.gov]

    Missing: GLY608SER
  • Alopecia

    AGA has also been associated with other metabolic-related conditions, including coronary artery disease, polycystic ovary syndrome, and Cushing syndrome, as well as several[ncbi.nlm.nih.gov] Our study is the first report to identify a homozygous missense mutation for APMR syndrome through whole-exome sequencing.[ncbi.nlm.nih.gov] Androgenetic alopecia (AGA) and its association with the metabolic syndrome (MetS) have received increasing interest since 1972, when the first link between cardiovascular[ncbi.nlm.nih.gov] Here we present whole-exome sequencing results of a large consanguineous family segregating APMR syndrome with seven affected family members.[ncbi.nlm.nih.gov]

    Missing: GLY608SER
  • Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome

    Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature, 423, 293–298.[doi.org] Prognosis - Progeroid syndrome- Penttinen type Not supplied. Treatment - Progeroid syndrome- Penttinen type Not supplied.[checkorphan.org] Brown WT, Gordon LB, Collins FS: Hutchinson-Gilford progeria syndrome. Gene Reviews, 2004. 9.[link.springer.com] Abstract Penttinen syndrome is a distinctive disorder characterized by a prematurely aged appearance with lipoatrophy, epidermal and dermal atrophy along with hypertrophic[unboundmedicine.com]

    Missing: GLY608SER
  • De Barsy Moens Diercks Syndrome

    Somatic and gonadal mosaicism in Hutchinson-Gilford progeria .[lookfordiagnosis.com] Prognosis - De Barsy syndrome Not supplied. Treatment - De Barsy syndrome Not supplied. Resources - De Barsy syndrome Not supplied.[checkorphan.org] […] and Exeter NHS Foundation Trust, Gladstone Road, Exeter, UK. emma.kivuva@rdeft.nhs.uk Abstract De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-like[ncbi.nlm.nih.gov] It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria .[wikinow.co]

    Missing: GLY608SER
  • Premature Aging

    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] Abstract The premature aging syndromes are a rare eccentric group of syndromes in which predominantly senile features develop prematurely.[ncbi.nlm.nih.gov] " progeria syndromes (APS) that are later in onset.[ncbi.nlm.nih.gov] This review focuses on one of the most severe laminopathies, Hutchinson-Gilford Progeria Syndrome (HGPS), which is caused by aberrant splicing of the LMNA gene and expression[ncbi.nlm.nih.gov]

    Missing: GLY608SER

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