Create issue ticket

14 Possible Causes for Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia, Thick, Dyskeratotic Soles

  • 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] […] palms & soles Tufting of terminal Phalanges,myopia EEC ED Thin, pitted, striated nails Hypotrichosis of scalp,body Eye brow/Lashes - abs Ano/hypo/mic ro dontia Occasionally[slideshare.net] The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed.[en.wikipedia.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] DRUGS. 2008; 68(7): 963-980 [Pubmed] 6 Relationship between ankle-brachial index and carotid intima-media thickness in HIV-infected patients.[jpgmonline.com] Kamn DE, Fischer MS (1972) Proximal renal tubular acidosis and the Fanconi’s syndrome in a patient with hypergammaglobulinemia.[link.springer.com]

    Missing: Dyskeratotic Soles
  • 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] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Wide mouth Broad mouth Large mouth [ more ] 0000154 5%-29% of people[rarediseases.info.nih.gov] Progressive Vitiligo with Mental Retardation and Urethral Duplication Prolonged Bleeding Time, Brachydactyly, and Mental Retardation Propofol Infusion Syndrome Proud Syndrome Proximal[rgd.mcw.edu]

    Missing: Dyskeratotic Soles
  • 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] […] with extra X chromosomes (XXy, XXXy, XXXXy); infertility; males with some female characteristics Klinefelter Nondisjunction Protein for transporting Cl - ions doesn't work; Thick[quizlet.com] Central corneal thickness is often increased. AAK may be caused by a deficiency in matrix metalloproteinase 9 (MMP-9), which is also regulated by PAX6.[eyewiki.aao.org]

    Missing: Dyskeratotic Soles
  • 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] 21 102100 Acromegaloid changes, cutis vertcis gyrata, and corneal leukoma (Rosenthal-Kloepfer syndrome) 22 102150 Acromegaloid facial appearance syndrome (AFA syndrome) (Thick[becomerich.lab.u-ryukyu.ac.jp] Increased corneal thickness ( 600 microns) has been found in some series and should be considered when IOP measurements are made.[disorders.eyes.arizona.edu]

    Missing: Dyskeratotic Soles
  • 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] 21 102100 Acromegaloid changes, cutis vertcis gyrata, and corneal leukoma (Rosenthal-Kloepfer syndrome) 22 102150 Acromegaloid facial appearance syndrome (AFA syndrome) (Thick[becomerich.lab.u-ryukyu.ac.jp] 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]

    Missing: Dyskeratotic Soles
  • 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] Effect of atorvastatin on lipid profile and carotid intima media thickness (cIMT) in TEENren with refractory nephrotic syndrome: a randomized double blind, placebo controlled[gt5.fantasticsams.biz] Successful treatment of proximal renal tubular acidosis and Fanconi syndrome with vitamin D replacement.[sjkdt.org]

    Missing: Dyskeratotic Soles
  • Autosomal Dominant Spastic Paraplegia Type 13

    tubular acidosis with deafness ATP6V1B1 Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities SLC4A4 Renale[meduniwien.ac.at] Palms & soles may become thickened, and sufferers may present intraoral papules . Fingernails become fragile, which helps in the diagnosis of the disease.[en.wikipedia.org] CNS is detected in some forms of hsp HSP. [22] Several genes were linked to myelin malformation, namely PLP1, GFC2 and FA2H. [3] The mutations alter myelin composition, thickness[en.wikipedia.org] Some authors consider it hypoplasia occurring early in the course of the disease, and the thickness of the corpus callosum remains stable with time in the follow-up examinations[ajnr.org]

    Missing: Thenar Eminence Hypoplasia
  • 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] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.com] […] bizarre, enlarged polyhedral cells with granular eosinophilic cytoplasm and large, hyperchromatic nuclei with pseudoinclusions Placental mesenchymal dysplasia Dilated and thick[pathologyoutlines.com]

    Missing: Dyskeratotic Soles
  • 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] Two patients with full thickness cleft reported by Srikanth et al [ 6 ] had intractable seizures and motor dysfunction but normal intelligence.[ispub.com] Increased corneal thickness ( 600 microns) has been found in some series and should be considered when IOP measurements are made.[disorders.eyes.arizona.edu]

    Missing: Dyskeratotic Soles