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13 Possible Causes for Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • 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]

  • 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] 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]

  • 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] Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement.[sjkdt.org]

  • 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] Fanconi Syndrome is a proximal renal tubular defect which results in loss of potassium, phosphorus, bicarbonate, uric acid, glucose, and amino acid.[entokey.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]

  • 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] Pseudovaginal perineoscrotal hypospadias SRD5A2 Pseudoxanthoma Elasticum P092-B2, ABCC6 Pulmonale Hypertonie BMPR2 Pyruvatkinasemangel PKLR, PK Refsum-Syndrom PHYH, PEX7 Renal[meduniwien.ac.at]

  • 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] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 5/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov]

  • 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]

  • Genee-Wiedemann Syndrome

    tubular acidosis with deafness; 267300; ATP6B1 Renal tubular acidosis, distal, AD; 179800; SLC4A1 Renal tubular acidosis, distal, AR; 611590; SLC4A1 Renal tubular acidosis[howlingpixel.com] Aplastic clavicle Astigmatism Small thenar eminence Limited wrist movement Limited interphalangeal movement Hypoplasia of deltoid muscle Pectoralis major hypoplasia Abnormality[mendelian.co] , distal, autosomal recessive; 602722; ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities; 604278; SLC4A4 Renal tubular dysgenesis; 267430; ACE Renal tubular[howlingpixel.com]

  • Radial Ray Hypoplasia - Choanal Atresia Syndrome

    OMIM:267200 Renal Tubular Acidosis III OMIM:179830 Renal Tubular Acidosis, Proximal OMIM:604278 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation[informatics.jax.org] A sister of the proposita had hemifacial microsomia, cervical abnor- malities, and hypoplasia of the thenar eminence.[docslide.us] The radial dysplasia can range from hypoplasia of the thenar eminence (base of thumb) with or without thumb abduction and apposition weakness, hypoplasia or absence of the[childrenshospital.org]

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