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61 Possible Causes for Autosomal Dominant, Retinal Lipid Deposits

  • Hypercholesterolemia

    RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[ncbi.nlm.nih.gov] Atherosclerosis. 2007, 193 (2): 235-240. 10.1016/j.atherosclerosis.2006.08.060 View Article PubMed Google Scholar Crispin S: Ocular lipid deposition and hyperlipoproteinaemia[doi.org] Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive[ncbi.nlm.nih.gov]

  • Familial Hypercholesterolemia

    Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[ncbi.nlm.nih.gov] Abstract Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[doi.org]

  • Familial Hyperlipidemia

    […] with FCH Chromosome locus (specific region) 1q21-q23 has been linked to FCH APOA5 gene association with APOA1/CIII/AIV has also been linked to FCH Autosomal dominant: Autosomal[dovemed.com] Answers Teaching Points Click Your Answer Below Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Would you like to access teaching points and more[knowledge.statpearls.com] Familial hypercholesterolemia is inherited in families in an autosomal dominant manner.[genome.gov]

  • Retinopathy

    Keywords Retinal Detachment Vascular Endothelial Growth Factor Gene Cholesterol Ester Transfer Protein Autosomal Recessive Autosomal Dominant Introduction Retinopathy of prematurity[doi.org] […] hereditary optic atrophy; Autosomal dominant optic atrophy plus syndrome; Glaucoma, normal tension, susceptibility to OPA3 Optic atrophy and cataract, autosomal dominant[asperbio.com] In autosomal dominant RP , usually one parent is affected and is the only parent with a mutated gene.[blindness.org]

  • Nephrotic Syndrome

    Abstract A little over 30 cases on co-existing nephrotic syndrome and autosomal dominant polycystic kidney disease (ADPKD) have been reported from different regions of the[ncbi.nlm.nih.gov] The condition may be inherited in an autosomal dominant or autosomal recessive manner.[dovemed.com] Excessive activation of the alternative complement pathway in autosomal dominant polycystic kidney disease. J Intern Med. 2014;276(5):470–85.[clinicalproteomicsjournal.biomedcentral.com]

  • Familial Combined Hyperlipidemia

    The authors report an affected North Indian kindred spanning three successive generations with a possible autosomal dominant pattern of inheritance and all of them had combined[ncbi.nlm.nih.gov] APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively. Copyright 2012 Elsevier Ireland Ltd.[ncbi.nlm.nih.gov] […] with FCH Chromosome locus (specific region) 1q21-q23 has been linked to FCH APOA5 gene association with APOA1/CIII/AIV has also been linked to FCH Autosomal dominant: Autosomal[dovemed.com]

  • Lipoid Nephrosis

    dominant polycystic kidney disease -- Other cystic kidney diseases -- Alport syndrome and other familial glomerular syndromes -- Inherited disorders of sodium and water handling[worldcat.org] […] cord injury -- Renovascular hypertension and ischemic nephropathy -- Renal physiology and complications in normal pregnancy -- Pregnancy with preexisting kidney disease -- Autosomal[worldcat.org]

  • Retinitis Pigmentosa

    In some patients with autosomal dominant retinitis pigmentosa, the disease is caused by one of a variety of mutations of the rhodopsin gene.[ncbi.nlm.nih.gov] retinitis punctata albescens in some cases. • Bietti's disease shows characteristic microcrystalline deposits in fundus and cornea.[ojrd.com] Genetic heterogeneity is present in autosomal dominant retinitis pigmentosa.[doi.org]

  • Diabetic Retinopathy

    They are inherited in an autosomal dominant pattern. Abnormalities at three genetic loci on different chromosomes have been identified to date.[doi.org] A type of non-insulin-requiring diabetes in young people, inherited in an autosomal-dominant fashion, is clearly different from the classic acute-onset diabetes that typically[doi.org] Genetic abnormalities that result in the inability to convert proinsulin to insulin have been identified in a few families, and such traits are inherited in an autosomal dominant[doi.org]

  • Hereditary Corneal Dystrophy

    Three autosomal dominant corneal dystrophies map to chromosome 5q . Nat Genet. 1994 Jan;6(1):47-51. Dinh R, Rapuano CJ, Cohen EJ, Laibson PR.[disorders.eyes.arizona.edu] […] studies is important. 29. 7.Marginal Crystalline Dystrophy (Bietti's( AD Crystalline deposits in the paralimbal anterior stroma associated with a retinal pigmentary abnormality[slideshare.net] There are two types of CHED: (i). the autosomal dominant type or CHED1 and (ii). the autosomal recessive type or CHED2.[link.springer.com]

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