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1,312 Possible Causes for Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia, Thumb Absence

  • Oculootoradial Syndrome

    recessive proximal renal tubular acidosis Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive Robinow syndrome Autosomal recessive Segawa syndrome Autosomal[csbg.cnb.csic.es] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 6/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov] Thumb involvement is the most typical clinical manifestation and can range from absence or hypoplasia to the presence of a triphalangic thumb.[malacards.org]

  • 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: Thumb Absence
  • Holt Oram Syndrome

    eminence, clinodactyly, or hypoplasia of the thumb 2 - Present arms and forearms, with one or more bones missing 3 - Phocomelia.[aeronline.org] This rare syndrome characterized by upper limb defects such as carpal bone defects, triphalangeal thumbs, hypoplasia or absence of the thumb and the radial ray are more frequent[ajner.com] Besides the absence of thumbs and an atrial septal defect, she presented multiple strokes and end-stage renal failure.[ncbi.nlm.nih.gov]

    Missing: Proximal Renal Tubular Acidosis
  • Adult Fanconi Syndrome

    Abstract To compare the difference between primary proximal renal tubular acidosis (PRTA) and Fanconi syndrome (FS), and to find out possible risk factors for growth retardation[ncbi.nlm.nih.gov] These defects may include failure of the radius to grow (radial aplasia), underdevelopment of the radius (radial hypoplasia), underdevelopment or absence of the thumb and[rarediseases.org] Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement.[sjkdt.org]

    Missing: Thenar Eminence Hypoplasia
  • Fanconi Renotubular Syndrome

    These findings were suggestive of proximal renal tubular acidosis (Fanconi syndrome).[ncbi.nlm.nih.gov] Diagnosis of TAR syndrome is confirmed if a deletion is present in an individual with bilateral absence of the radius and presence of thumbs.[rarediseases.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
  • Acrootoocular Syndrome

    […] coloboma syndrome Renal Dysplasia - Limb Defects Syndrome Renal Nutcracker Syndrome Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation restless[rgd.mcw.edu] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] , absence or hypoplasia of the thumbs and loss of the flexion-extension ability of the thumbs, sindactyly, clinodactily, frequent proximal radio-ulnar synostosis.[pocketdentistry.com]

  • Autosomal Dominant Mental Retardation Type 21

    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] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] Deficient resorption in proximal tubules. (1) Cystine deposition throughout body, cystinuria. (2) Defective tubular resorption leads to amino-aciduria, polyuria, glycosuria[kumc.edu]

  • Hypokalemic Periodic Paralysis

    Abstract Proximal renal tubular acidosis (pRTA) is a rare disorder.[ncbi.nlm.nih.gov] A good rule of thumb is not to exceed 100 mEq in a day in the absence of an attack. Renal excretion of potassium is 90% and fecal excretion is 10%.[translational-medicine.com] The third has an isolated proximal renal tubular acidosis complicated with multiple organ abnormalities, unilateral carotid artery stenosis, respiratory failure, and consciousness[ncbi.nlm.nih.gov]

    Missing: 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] […] of, with Taurodontia and Sparse Hair Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental Dysplasia[nfed.org]

  • Tricho-Retino-Dento-Digital Syndrome

    tubular acidosis SLC4A1 Spherocytosis SLC4A1 Ovalocytosis SLC4A1 Erythrocyte band 3 deficiency SLC4A1 Corneal endothelial dystrophy 2 SLC4A11 Proximal renal tubular acidosis[springer.com] absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic[mindmappedia.com] Acidosis, Distal, With Hemolytic Anemia 2 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 1 Renal Tubular Dysgenesis 6 Renpenning Syndrome[preventiongenetics.com]

    Missing: Thenar Eminence Hypoplasia