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722 Possible Causes for Cysteine and Disulfide Bonds in Hair Decreased, Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • Hidrotic Ectodermal Dysplasia

    tubular acidosis with deafness ATP6V1B1 Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A4 Renale[meduniwien.ac.at] […] wrist movement Small thenar eminence Aplastic clavicle Limited elbow movement Short 1st metacarpal Cleft lip Rectovaginal fistula Right bundle branch block Carpal synostosis[mendelian.co] Analytical biochemical investigations in hidrotic ectodermal dysplasia have demonstrated that the abnormal hair exhibits lower levels of disulfide bonds and cysteine, which[symptoma.com]

  • Acquired Fanconi Syndrome

    , low-molecular-weight proteinuria and proximal renal tubular acidosis.[orpha.net] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] Kamn DE, Fischer MS (1972) Proximal renal tubular acidosis and the Fanconi’s syndrome in a patient with hypergammaglobulinemia.[link.springer.com]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased
  • Acidosis

    […] include: Kidney disease (distal renal tubular acidosis and proximal renal tubular acidosis) Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol Severe[nlm.nih.gov] Kidney disease ( distal renal tubular acidosis and proximal renal tubular acidosis ). Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol.[medlineplus.gov] Exercising intensely Liver failure Medicines, such as salicylates Prolonged lack of oxygen from shock, heart failure, or severe anemia Seizures Other causes of metabolic acidosis[nlm.nih.gov]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia
  • Sjögren Syndrome

    Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular[ncbi.nlm.nih.gov] acidosis and hypophosphatemia.[ncbi.nlm.nih.gov] Sjögren's syndrome can also be associated with renal involvement.[ncbi.nlm.nih.gov]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia
  • Multiple Myeloma

    Plasma cells are cells in the immune system that make antibodies, which help the body fight infection and disease. Plasma cell neoplasms are diseases in which the body makes too many plasma cells in the bone marrow and these cells are abnormal. The abnormal plasma cells make M proteins, which are abnormal antibodies[…][web.archive.org]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia
  • Amyloidosis

    Systemic light chain amyloidosis (AL) is a life-threatening disease caused by aggregation and deposition of monoclonal immunoglobulin light chains (LC) in target organs. Severity of heart involvement is the most important factor determining prognosis. Here, we report the 4.0 Å resolution cryo-electron microscopy map[…][ncbi.nlm.nih.gov]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia
  • Systemic Amyloidosis

    Clin Rheumatol. 2016 Feb;35(2):535-9. doi: 10.1007/s10067-014-2782-0. Epub 2014 Sep 18. Author information 1 Service de Rhumatologie/DAL, CHUV, Av. Pierre Decker 4, 1011, Lausanne, Switzerland. 2 Service de Neurologie/DNC, CHUV, Rue du Bugnon 46, 1011, Lausanne, Switzerland. 3 Service de Pathologie Clinique, Hôpitaux[…][ncbi.nlm.nih.gov]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia
  • Renal Tubular Dysfunction

    Renal tubular acidosis - proximal; Type II RTA; RTA - proximal; Renal tubular acidosis type II Bose A, Monk RD, Bushinsky DA. Kidney stones.[medlineplus.gov] However, other proximal renal tubular dysfunctions have rarely been reported.[ncbi.nlm.nih.gov] ., Gema Ariceta, and Daniel Batlle. " Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies."[derangedphysiology.com]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia
  • Proximal Renal Tubular Acidosis

    Proximal renal tubular acidosis (pRTA) or type 2 renal tubular acidosis (RTA) is a type of RTA caused by a failure of the proximal tubular cells to reabsorb filtered bicarbonate[en.wikipedia.org] Defects in the process of bicarbonate reabsorption result in loss of bicarbonate and proximal renal tubular acidosis.[ncbi.nlm.nih.gov] Proximal renal tubular acidosis, also known as type 2 renal tubular acidosis, is distinguished by the impaired absorption of bicarbonate in the proximal tubule of the nephron[symptoma.com]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia
  • Renal Tubular Acidosis

    Alternative Names Renal tubular acidosis - proximal; Type II RTA; RTA - proximal; Renal tubular acidosis type II Causes When the body performs its normal functions, it produces[umms.org] Renal tubular acidosis - proximal; Type II RTA; RTA - proximal; Renal tubular acidosis type II Bose A, Monk RD, Bushinsky DA. Kidney stones.[medlineplus.gov] renal tubular acidosis (pRTA).[ncbi.nlm.nih.gov]

    Missing: Cysteine and Disulfide Bonds in Hair Decreased Thenar Eminence Hypoplasia