Create issue ticket

30 Possible Causes for Abnormal Corticomedullary Differentiation, Acute Leukemia, Retinal Degeneration

  • Ataxia Telangiectasia

    Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[doi.org] Of the acute leukemias, T-cell lymphoblastic leukemia (T-ALL) is by far the most common.[ncbi.nlm.nih.gov] 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]

  • Senior Loken Syndrome

    […] diagnosis of these varieties of hereditary tapeto-retinal degeneration.[ncbi.nlm.nih.gov] 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] 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

    leukemia, consisting of acute myeloid leukemia or relapsed acute lymphoblastic leukemia, and HSCT recipients-at 76 centers in the United States and Canada, with follow-up[ncbi.nlm.nih.gov] Treatment of macular degeneration using embryonic stem cell-derived retinal pigment epithelium: preliminary results in Asian patients.[doi.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]

  • Nephronophthisis 13

    Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] We integrated the following cancer types: • Acute Myeloid Leukemia (TCGA, NEJM 2013) • Bladder Urothelial Carcinoma (TCGA, Nature 2014) • Breast Invasive Carcinoma (TCGA,[phosphosite.org] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 16

    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] We integrated the following cancer types: • Acute Myeloid Leukemia (TCGA, NEJM 2013) • Bladder Urothelial Carcinoma (TCGA, Nature 2014) • Breast Invasive Carcinoma (TCGA,[phosphosite.org] Renal corticomedullary cysts (HP:0000108) ........ Abnormal renal corticomedullary differentiation (HP:0005932) ...................[mseqdr.org]

  • Waters-West Syndrome

    Familial, with External and Middle Ear Abnormalities OMIM:607330 Lathosterolosis OMIM:150500 Lattice Degeneration of Retina Leading to Retinal Detachment OMIM:245800 Laurence-Moon[informatics.jax.org] […] myeloid leukemia Progressive cerebellar ataxia Impaired vibration sensation in the lower limbs Acute leukemia Gait imbalance Abnormality of neutrophils Vertical nystagmus[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]

  • Osteopetrosis

    leukemia Rx: bone marrow transplant DDx: Heavy metal poisoning Melorheostosis (limited to one extremity) Hypervitaminosis D Pyknodysostosis Fibrous dysplasia of skull / face[learningradiology.com] 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]

  • Medullary Cystic Kidney Disease

    degeneration.[ncbi.nlm.nih.gov] leukemia 急性リンパ性白血病:acute lymphatic leukemia 慢性リンパ性白血病:chronic lymphatic leukemia 骨髄線維症:myelofibrosis 多発性骨髄腫:multiple myeloma 2)リンパ節 反応性変化 反応性濾胞性腫大:reactive follicular hyperplasia[medical-e.net] Kidney size is either normal or reduced in MCKD, and ultrasound demonstrates increased echogenicity, loss of corticomedullary differentiation, and medullary cysts (Figure[renalandurologynews.com]

  • Hyperalaninemia

    […] myeloid leukemia Inherited AML Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited CJD Inherited congenital[orpha.net] degeneration-trichomegaly syndrome; septo-optic dysplasia; (iv) craniofacial disorders: acrocephaly-cleft lip-radial aplasia syndrome; acrocephalosyndactyly;type 1 (Apert[nmhealth.org] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[mendelian.co]

  • Fanconi Renotubular Syndrome

    , progressive degeneration, and wearing away of certain eye structures [ 4 ].[jmedicalcasereports.biomedcentral.com] There were 4 patients (19%; 1 MGUS, 1 SMM, and 2 MM) who developed secondary myelodysplastic syndrome or acute leukemia and died.[bloodjournal.org] Abdominal ultrasound showed kidneys measuring 146 mm with preserved corticomedullary differentiation and no signs of hydronephrosis.[revistanefrologia.com]

Similar symptoms