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12 Possible Causes for Abnormal Corticomedullary Differentiation, Retinal Degeneration, Vein Disorder

  • 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] The hallmarks of AT are ataxia (lack of muscle control) and other movement disorders, and telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes[kennedykrieger.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]

  • Primary Optic Atrophy

    Venous drainage from the ocular and orbital portions of the optic nerve is chiefly into the central retinal vein.[academy.org.uk] 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]

  • Medullary Cystic Kidney Disease

    degeneration.[ncbi.nlm.nih.gov] Nephronopthisis Nephronopthisis is an autosomal recessive disorder with an infantile, juvenile, and adolescent form depending on the age at presentation.[hawaii.edu] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[lecturio.com]

  • Cystic Kidney

    Nephronopthisis Nephronopthisis is an autosomal recessive disorder with an infantile, juvenile, and adolescent form depending on the age at presentation.[hawaii.edu] 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]

  • Hyperalaninemia

    degeneration-trichomegaly syndrome; septo-optic dysplasia; (iv) craniofacial disorders: acrocephaly-cleft lip-radial aplasia syndrome; acrocephalosyndactyly;type 1 (Apert[nmhealth.org] Infective dermatitis associated with human T-lymphotropic virus type 1 Infective dermatitis associated with human T-lymphotropic virus type I Infective keratitis Inferior caval vein[orpha.net] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[mendelian.co]

  • Mulibrey Nanism Syndrome

    […] document : URI: DOI : Title: Mulibrey nanism Author: Piccione, Maria ; Salzano, Emanuela Abstract: Mulibrey (MUscle-LIver-BRain-EYe) nanism is a rare autosomal recessive disorder[documents.irevues.inist.fr] 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]

  • Congenital Hemihypertrophy

    A combination of May-Thurner syndrome and persistent sciatic vein was found ...[biomedsearch.com] degeneration Coarse facial features Behavioral abnormality Hepatomegaly Failure to thrive Hearing impairment Irregular carpal bones Flared femoral metaphysis Enlarged joints[mendelian.co] Heterogeneous Growth delay Respiratory distress Meningoencephalocele Episodic tachypnea Absence of renal corticomedullary differentiation Brainstem dysplasia Neonatal breathing[mendelian.co]

  • Hypertrichotic Osteochondrodysplasia

    […] early-onset osteoarthritis (OD) [MIM: 165800 ] ACAT1 P24752 non-pleiotropic 3-ketothiolase deficiency (3KTD) [MIM: 203750 ] ACO2 Q99798 non-pleiotropic Infantile cerebellar-retinal[sbg.bio.ic.ac.uk] Genotype-Phenotype Correlations Current information about genotype - phenotype correlation in Cantú syndrome and related disorders is limited.[ncbi.nlm.nih.gov] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[mendelian.co]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    Inherited deficiencies of blood lipoproteins also may result in peripheral neuropathy, retinal degeneration, and other motor and skeletal deformities.[britannica.com] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[mendelian.co] Vascular disorders Cerebellar hemorrhage may occur with high blood pressure, causing sudden headache, neck stiffness, and cerebellar signs, often with evidence of compression[britannica.com]

  • Autosomal Recessive Optic Atrophy Type 7

    […] atresia or stenosis Congenital tracheomalacia Congenital vitamin K-dependent coagulation factors deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency[sanfordresearch.org] […] of the retinal pigment epithelium Retinal degeneration-nanophthalmos-glaucoma syndrome Retinal dystrophy Retinal dystrophy with inner retinal dysfunction and ganglion cell[se-atlas.de] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[djo.org.in]

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