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746 Possible Causes for All Cases due to De Novo Mutation, Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • Lenz-Majewski Syndrome

    Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation prune belly syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness[rgd.mcw.edu] […] of the thenar and hypothenar eminences (Learman et al. 1981).[rrnursingschool.biz] Progressive Vitiligo with Mental Retardation and Urethral Duplication Prolonged Bleeding Time, Brachydactyly, and Mental Retardation Propofol Infusion Syndrome Proud Syndrome Proximal[rgd.mcw.edu]

  • 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: All Cases due to De Novo Mutation
  • 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: All Cases due to De Novo Mutation 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: All Cases due to De Novo Mutation 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: All Cases due to De Novo Mutation 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: All Cases due to De Novo Mutation 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: All Cases due to De Novo Mutation 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: All Cases due to De Novo Mutation 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: All Cases due to De Novo Mutation 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: All Cases due to De Novo Mutation Thenar Eminence Hypoplasia