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3,059 Possible Causes for Abnormal Corticomedullary Differentiation, Immunoglobulin A Decreased, Retinal Degeneration

  • Ataxia Telangiectasia

    Patients classically present with recurring infections, and labs will reveal decreased immunoglobulins levels of all classes.[pixorize.com] Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com]

  • Retinitis Pigmentosa

    A 25-year-old woman with retinitis pigmentosa presented with decreased visual acuity, interested in a second opinion.[ncbi.nlm.nih.gov] degeneration (AMD), according to a new report.[sciencedaily.com] […] the retina leading to progressive sight loss RP pericentral pigmentary retinopathy pigmentary degeneration of the retina edit English retinitis pigmentosa retinal degeneration[wikidata.org]

    Missing: Abnormal Corticomedullary Differentiation
  • Mucolipidosis

    Low serum levels of immunoglobulin A, G2, and G4 were also observed before HSCT; however, these values normalized after transplantation.[ncbi.nlm.nih.gov] Her vision began deteriorating at 12 years of age, due to bilateral corneal opacities and retinal degeneration.[ncbi.nlm.nih.gov] ., delayed development of movement and coordination), corneal opacity, retinal degeneration and other ophthalmological abnormalities.[en.wikipedia.org]

    Missing: Abnormal Corticomedullary Differentiation
  • Mucopolysaccharidosis 2

    ., decreased discomfort, improved quality of life), but patient/family perspectives were not studied. Findings for spleen volume were consistent (data not shown).[nature.com] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com] Retinal degeneration is seen to a lesser degree in MPS IIB. Patients diagnosed with MPS IIB can live beyond the fifth decade of life.[emedicine.medscape.com]

    Missing: Abnormal Corticomedullary Differentiation
  • Medullary Cystic Kidney Disease

    The function of this conserved region is not known, but deletion of an adjacent region of the UMOD protein is associated with decreased ability to inhibit binding of immunoglobulin[doi.org] degeneration.[ncbi.nlm.nih.gov] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[lecturio.com]

  • Senior Loken Syndrome

    […] 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] Mutations in nine genes are linked to retinal degeneration and mutated NPHP1 to NPHP13 genes result in nephronophthisis.[symptoma.com]

    Missing: Immunoglobulin A Decreased
  • Stickler Syndrome

    Ultimately, the AZPs cluster and decrease in number.[emedicine.medscape.com] The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment[ncbi.nlm.nih.gov] Of the eight patients, five did not need any therapy, two children had retinal degeneration in the left eye and retinal detachment in the right eye while one child had retinal[ncbi.nlm.nih.gov]

    Missing: Abnormal Corticomedullary Differentiation
  • Nephronophthisis 1

    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] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com]

    Missing: Immunoglobulin A Decreased
  • Nephronophthisis 3

    […] 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] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com]

    Missing: Immunoglobulin A Decreased
  • Nephronophthisis 12

    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] degeneration.[doi.org]

    Missing: Immunoglobulin A Decreased

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