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735 Possible Causes for Mutation in the SLC34A1 Gene, Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • Fanconi Renotubular Syndrome Type 2

    Proximal Renal Tubular Acidosis (Type II) Causes of Proximal Renal Tubular Acidosis When the body performs its normal functions, it produces acid.[medvin2u.net] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] Renotubular Fanconi syndrome 2 is an autosomal recessive disorder caused by mutations of the SLC34A1 gene.[moldiag.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: Mutation in the SLC34A1 Gene
  • Fanconi Renotubular Syndrome

    These findings were suggestive of proximal renal tubular acidosis (Fanconi syndrome).[ncbi.nlm.nih.gov] […] at chromosome 5q35.1–q35.3 containing the SLC34A1 gene.[doi.org] Fanconi syndrome was suggested by multiple proximal tubular defects including renal glucosuria, hyperuricosuria, hyperphosphaturia, proximal renal tubular acidosis, and kaliuresis[ncbi.nlm.nih.gov]

    Missing: Thenar Eminence Hypoplasia
  • Fanconi Renotubular Syndrome Type 3

    DOI: Proximal renal tubular acidosis with primary Fanconi syndrome Abstract Renal tubular acidosis (RTA) is associated with normal or near normal glomerular filtration rate[ijpediatrics.com] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] The clinical picture was dominated by phosphate wasting resulting from homozygous mutations of SLC34A1, the gene coding for NaPi-IIa, the proximal tubular phosphate transporter[clinmedjournals.org]

  • Acidosis

    […] include: Kidney disease (distal renal tubular acidosis and proximal renal tubular acidosis) Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol Severe[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] Kidney disease ( distal renal tubular acidosis and proximal renal tubular acidosis ). Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol.[nlm.nih.gov]

    Missing: Mutation in the SLC34A1 Gene 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: Mutation in the SLC34A1 Gene Thenar Eminence Hypoplasia
  • Multiple Myeloma

    The monoclonal gammopathies are a group of disorders associated with monoclonal proliferation of plasma cells. The characterization of specific entities is an area of difficulty in clinical practice. The International Myeloma Working Group has reviewed the criteria for diagnosis and classification with the aim of[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the SLC34A1 Gene Thenar Eminence Hypoplasia
  • Amyloidosis

    Amyloidosis NORD gratefully acknowledges Vaishali Sanchorawala, MD, Director of Amyloidosis Center, Boston University School of Medicine and Boston Medical Center, for assistance in the preparation of this report. Subdivisions of Amyloidosis AL amyloidosis ATTR amyloidosis – ATTRm or ATTRwt amyloidosis AA amyloidosis[…][rarediseases.org]

    Missing: Mutation in the SLC34A1 Gene Thenar Eminence Hypoplasia
  • Nephrocalcinosis

    Hypercalciuria is also a feature of Fanconi's syndrome and proximal renal tubular acidosis; however, these conditions are less commonly associated with nephrocalcinosis.[patient.info] RESULTS: A novel homozygous mutation in the gene encoding the renal sodium-dependent phosphate transporter SLC34A1 was identified in both siblings (c.1484G A, p.Arg495His)[ncbi.nlm.nih.gov] Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrol. Dial. Transplant. 27, 4273–4287 (2012).[revistas.unc.edu.ar]

    Missing: Thenar Eminence Hypoplasia
  • Systemic Amyloidosis

    Persistent pleural effusions (PPE) occur in 1-2% of cases of systemic amyloidosis and have been postulated to result from direct disruption of the pleura by amyloid deposits. Patients are typically treated with percutaneous pleural drainage techniques. Pleural biopsies, done most commonly via percutaneous[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the SLC34A1 Gene Thenar Eminence Hypoplasia