Create issue ticket

36 Possible Causes for Abnormal Corticomedullary Differentiation, Leukemia, Retinal Degeneration

  • Ataxia Telangiectasia

    Of the acute leukemias, T-cell lymphoblastic leukemia (T-ALL) is by far the most common.[ncbi.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]

  • Fanconi Renotubular Syndrome

    […] mesylate (Gleevec, Glivec; Novartis, Basel, Switzerland) is a specific tyrosine kinase inhibitor that has become the gold-standard treatment for patients with chronic myeloid leukemia[ncbi.nlm.nih.gov] , progressive degeneration, and wearing away of certain eye structures [ 4 ].[jmedicalcasereports.biomedcentral.com] Abdominal ultrasound showed kidneys measuring 146 mm with preserved corticomedullary differentiation and no signs of hydronephrosis.[revistanefrologia.com]

  • Senior Loken Syndrome

    Below is a partial list of conditions that we can identify in embryos: A Aarskog-Scott Syndrome Achondroplasia Achromatopsia Acute Myeloid Leukemia Adenylosuccinase Deficiency[hfi-ivf.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]

  • Hematopoietic Stem Cell Transplantation

    Treatment of macular degeneration using embryonic stem cell-derived retinal pigment epithelium: preliminary results in Asian patients.[doi.org] KEYWORDS: Acute myeloid leukemia; Autologous transplantation; Cord blood transplantation; Hematopoietic stem cell transplantation[ncbi.nlm.nih.gov] 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]

  • Nephronophthisis 13

    We integrated the following cancer types: • Acute Myeloid Leukemia (TCGA, NEJM 2013) • Bladder Urothelial Carcinoma (TCGA, Nature 2014) • Breast Invasive Carcinoma (TCGA,[phosphosite.org] 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]

  • Osteopetrosis

    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] These findings fulfilled the diagnosis criteria for juvenile myelomonocytic leukemia (JMML), but no mutations in the CBL, NRAS, KRAS, or PTPN11 genes were detected.[ncbi.nlm.nih.gov] 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]

  • Waters-West Syndrome

    :151380 Leukemia, Acute Monocytic OMIM:246470 Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer OMIM:601626 Leukemia, Acute Myeloid; AML OMIM:308960 Leukemia[informatics.jax.org] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[mendelian.co] […] pigmentosa-deafness syndrome Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial[checkrare.com]

  • Primary Optic Atrophy

    Metabolic – diabetes Neoplastic – lymphoma, leukemia, tumor, glioma Genetic – Autosomal dominant optic atrophy (OPA1), Leber’s hereditary optic atrophy, Leber's hereditary[eyewiki.aao.org] 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]

  • Nephronophthisis 16

    We integrated the following cancer types: • Acute Myeloid Leukemia (TCGA, NEJM 2013) • Bladder Urothelial Carcinoma (TCGA, Nature 2014) • Breast Invasive Carcinoma (TCGA,[phosphosite.org] 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]

  • Cystic Kidney

    Hypertension : heart failure, stroke, MI, arterial aneurysm, diabetes [1] Blood in the urine : UTI, kidney infection, kidney injury, bladder cancer, STD, hemophilia, leukemia[physio-pedia.com] Arf4 deletion in photoreceptors did not cause protein mislocalization or retinal degeneration, as expected if Arf4 played a role in protein transport to the ciliary outer[ncbi.nlm.nih.gov] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts ( Figure[renalandurologynews.com]

Similar symptoms