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12 Possible Causes for Abnormal Corticomedullary Differentiation, Retinal Degeneration, Varicose Veins

  • 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] 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] Mari Sild & Linda Booij Molecular Psychiatry (2019) Histone Deacetylases Contribute to Excitotoxicity-Triggered Degeneration of Retinal Ganglion Cells In Vivo Annabelle Schlüter[doi.org]

  • Senior-Løken Syndrome

    Klippel Trenaunay syndrome • Portwine stains • Excess growth of bones and soft tissues varicose veins 121.[de.slideshare.net] […] 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]

  • Cystic Kidney

    veins, and hemorrhoids.[stanfordchildrens.org] 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]

  • Medullary Cystic Kidney Disease

    degeneration.[ncbi.nlm.nih.gov] vein 大動脈嚢胞状中膜壊死:cystic medial necrosis of aorta 血栓症:thrombosis リンパ・造血系 1)骨髄 貧血:anemia 再生不良性:aplastic, 巨赤芽球性:megaloblastic.[medical-e.net] Histological examination usually reveals abnormalities in ductal differentiation and minimal corticomedullary differentiation.[lecturio.com]

  • Congenital Hemihypertrophy

    KTW is characterized by port wine stains on the skin, extra bone and soft tissue growth, and varicose veins. Classically associated with vascular malformations.[congenitalhand.wustl.edu] 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]

  • Hypotrichosis - Lymphedema - Telangiectasia with Membranoproliferative Glomerulonephritis

    Degeneration in Ciliopathies Retinal Degeneration with Early Macular Involvement Retinitis Pigmentosa Retinitis Pigmentosa 1 Retinitis Pigmentosa 2 Retinitis Pigmentosa 4[sequencing.com] Some with varicose veins on the legs. [69] Not noted. [69] [70] [71] [72] Chronically elevated, but increase during flares: CRP, ESR, WBC. High during flares: IgG, Ig A.[autoinflammatory-search.org] differentiation Deeply set eye Abnormality of the pinna Sporadic Neonatal hypotonia EEG abnormality Hyperactivity Abnormality of the genital system Oxycephaly Immunodeficiency[mendelian.co]

  • CAMFAK Syndrome

    Hyperpigmentation, varicose or spider veins ( telangiectasia ), [8] and serious sensitivity to sunlight are common, even in individuals without XP-CS.[ipfs.io] Cockayne described a syndrome characterized by cachectic dwarfism, deafness, and pigmentary retinal degeneration with a characteristic “salt and pepper” appearance of the[dermaamin.com] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[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] […] excision Surgery for portal hypertension Arteriovenous access for hemodialysis Permanent vascular access Venous surgery-vein stripping and perforator ligation Varicose vein[whsmith.co.uk] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[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] *varicose vein *varix *phlebangioma 【静脈瘤症】*varicosis 【静脈瘤様腫脹】*varicosity (褥) 【褥瘡】*decubitus 【褥瘡性潰瘍】*decubital ulcer (塵) 【塵埃感染】*dust infection 【塵埃症】*coniosis 【塵肺[症]】*pneumoconiosis[medo.jp] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[mendelian.co]

  • Thyro-Cerebro-Renal Syndrome

    Glaucoma Retinal degeneration[tsbvi.edu] Veins Skin Disorders Bullous Diseases Burns Cellulitis Chronic Skin Diseases Dermatitis Genetic Photosensitivity Disorders Hidradenitis Suppurativa Ichthyosis Psoriasis Special[disabilitybenefitscenter.org] differentiation Abnormality of the umbilicus Dysplastic tricuspid valve Atresia of the external auditory canal Stenosis of the external auditory canal Anemia of inadequate[mendelian.co]

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