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2,395 Possible Causes for Abnormal Corticomedullary Differentiation, Absent Tonsils, Retinal Degeneration

  • Ataxia Telangiectasia

    The exam may show signs of the following: Tonsils, lymph nodes, and spleen below normal size Decreased to absent deep tendon reflexes Delayed or absent physical and sexual[nlm.nih.gov] 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]

  • Mucopolysaccharidosis

    degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Color/ cracks/ ulceration Oral cavity Mucus membrane color Gum-bleeding/ ulceration/ swelling Missing teeth Dental caries Tongue Odor from mouth Difficulty in swallowing Tonsils[slideshare.net] Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[icd9data.com]

    Missing: Abnormal Corticomedullary Differentiation
  • 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: Absent Tonsils
  • Alstrom Syndrome

    Phoebe had her tonsils and adenoids removed but problmes are still arising.[gofundme.com] degeneration before the age of 1 year (P 0.02), the occurrence of urological dysfunction (P 0.02), of DCM (P 0.03), and of diabetes (P 0.03).[ncbi.nlm.nih.gov] Alström syndrome - retinal degeneration with nystagmus and loss of central vision.[medical-dictionary.thefreedictionary.com]

    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: Absent Tonsils
  • 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: Absent Tonsils
  • 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: Absent Tonsils
  • Nephronophthisis 9

    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.[oadoi.org]

    Missing: Absent Tonsils
  • Nephronophthisis 2

    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] Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists.[oxfordmedicine.com]

    Missing: Absent Tonsils
  • Nephronophthisis 13

    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] Tapeto-retinal degeneration is frequent in patients with nephronophthisis.[ncbi.nlm.nih.gov]

    Missing: Absent Tonsils

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