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10 Possible Causes for Abnormal Corticomedullary Differentiation, Basement Membrane Altered, Retinal Degeneration

  • Nephronophthisis 3

    Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development[genecards.org] […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Senior-Løken Syndrome

    Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development[ghr.nlm.nih.gov] […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] Absence of renal corticomedullary differentiation Short proximal phalanx of finger Vascular ring Aplasia of the middle phalanx of the hand Pyelonephritis Frontal upsweep[mendelian.co]

  • Nephronophthisis 1

    Electron microscopy revealed notable alterations of the tubular basement membrane.[ncbi.nlm.nih.gov] Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration.[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 12

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] […] characterized by thickened or disrupted tubular basement membranes, tubular atrophy and dilation, interstitial fibrosis and occasional renal cysts.[dnatesting.uchicago.edu] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 9

    […] characterized by thickened or disrupted tubular basement membranes, tubular atrophy and dilation, interstitial fibrosis and occasional renal cysts.[dnatesting.uchicago.edu] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    […] characterized by thickened or disrupted tubular basement membranes, tubular atrophy and dilation, interstitial fibrosis and occasional renal cysts.[dnatesting.uchicago.edu] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 13

    […] characterized by thickened or disrupted tubular basement membranes, tubular atrophy and dilation, interstitial fibrosis and occasional renal cysts.[dnatesting.uchicago.edu] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 16

    Renal disease is characterized by alterations in tubular basement membranes, tubular atrophy and dilation, tubulointerstitial nephropathy sclerosing, and development of renal[ivami.com] NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration[content.iospress.com] Renal corticomedullary cysts (HP:0000108) ........ Abnormal renal corticomedullary differentiation (HP:0005932) ...................[mseqdr.org]

  • Medullary Cystic Kidney Disease

    Alterations are restricted mainly to the tubules and the interstitium and show a characteristic triad of tubular basement membrane disintegration, tubular atrophy with cyst[jasn.asnjournals.org] degeneration.[ncbi.nlm.nih.gov] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[lecturio.com]

  • Osteopetrosis

    membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).[ncbi.nlm.nih.gov] Riproduci file multimediale Optic-Nerve-Compression-and-Retinal-Degeneration-in-Tcirg1-Mutant-Mice-Lacking-the-Vacuolar-Type-H -pone.0012086.s001.ogv 6,7 s, 512 512; 237 KB[commons.wikimedia.org] Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[ncbi.nlm.nih.gov]

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