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39 Possible Causes for Abnormal Corticomedullary Differentiation, Retinal Degeneration, Skeletal Dysplasia

  • Primary Optic Atrophy

    Degeneration of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual[unboundmedicine.com] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[djo.org.in] Retinal degeneration (eg, retinitis pigmentosa ). Retinal storage diseases (eg, Tay-Sachs disease ). Radiation neuropathy. Syphilis.[patient.info]

  • Senior-Løken Syndrome

    Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): a new syndrome? Am J Med Genet 1997; 73: 1–4.[link.springer.com] […] 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

    The association of tapetoretinal degeneration with skeletal dysplasia may indicate asymptomatic renal or hepatic disease.[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 9

    , and hypoplastic Iliac wings PHYNS syndrome - Retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia Laurence-Moon-Bardet-Biedl syndrome - Retinitis[emedicine.medscape.com] 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 12

    , and hypoplastic Iliac wings PHYNS syndrome - Retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia Laurence-Moon-Bardet-Biedl syndrome - Retinitis[emedicine.medscape.com] 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

    , and hypoplastic Iliac wings PHYNS syndrome - Retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia Laurence-Moon-Bardet-Biedl syndrome - Retinitis[emedicine.medscape.com] 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

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Skeletal Dysplasias and Disorders Panel Panel By Blueprint Genetics in Finland.[mendelian.co] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 3

    , and hypoplastic Iliac wings PHYNS syndrome - Retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia Laurence-Moon-Bardet-Biedl syndrome - Retinitis[emedicine.medscape.com] […] 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]

  • Mulibrey Nanism Syndrome

    Dysplasia Sotos Syndrome Spina Bifida Spondyloepiphyseal Dysplasia Tangiers Syndrome Trichorhinophalangeal Syndrome Trisomy 14, Mosaic Pattern Trisomy 18 Trisomy 21 trisomy[magicfoundation.org] Sensorineural hearing loss and pigmentary retinal degeneration is invariably present.[emedicine.medscape.com] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[academic.oup.com]

  • Nephronophthisis 16

    skeletal dysplasia, Torrance type,151210 COL2A1115.20.990.98SED congenita,183900 COL2A1115.20.990.98SMED Strudwick type,184250 COL2A1115.20.990.98Spondyloepiphyseal dysplasia[qgenomics.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]

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