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6 Possible Causes for Mutation in the SPLRTN Gene, Urine Hyaluronic Acid Increased

  • Ruijs Aalfs Syndrome

    Symptoms related to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping shoulders • • • Back to: « Ruijs-Aalfs syndrome Related Symptom Articles Triangular face : Summary Facial contour, as[…][familydiagnosis.com]

  • Stiff Skin Syndrome

    PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com] […] appears in urine.[drmhijazy.com]

    Missing: Mutation in the SPLRTN Gene
  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    Notably, hyaluronic acid levels in the urine normally increase with age, although not approaching the levels observed in progeria.[encyclopedia.com] The most prevalent physiological abnormality associated with progeria is elevated hyaluronic acid in the urine.[encyclopedia.com] Hyaluronic acid is involved in maintenance of the skeletal, muscular, cutaneous, and vascular systems of the body, and is thought to block angiogenesis (vascularization).[encyclopedia.com]

    Missing: Mutation in the SPLRTN Gene
  • Acrogeria

    Since the glycosaminoglycans and hydroxyproline excreted in the urine were not increased, we speculate that a localized rather than a systemic abnormality may be present in[ncbi.nlm.nih.gov] Decreased collagen and hyaluronic acid contents in the patient are discussed in relation to Werner’s syndrome and type IV Ehlers-Danlos syndrome. 1986 S.[karger.com] PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com]

    Missing: Mutation in the SPLRTN Gene
  • Familial Osteodysplasia

    PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com] […] appears in urine.[drmhijazy.com]

    Missing: Mutation in the SPLRTN Gene
  • Progeroid Facial Appearance with Hand Anomalies

    PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com] […] appears in urine.[drmhijazy.com]

    Missing: Mutation in the SPLRTN Gene

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