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21 Possible Causes for Hyperbiliverdinemia, Progressive Loss of Vision

  • Neuronal Ceroid Lipofuscinosis

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death,[ncbi.nlm.nih.gov] The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor[ncbi.nlm.nih.gov]

  • Hereditary Hyperekplexia

    Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung cancer Acroerythrokeratoderma Renal hypodysplasia/aplasia 2 Hyperbiliverdinemia[amp.pharm.mssm.edu] […] with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.[amp.pharm.mssm.edu] […] familial intrahepatic cholestasis 4 Stargardt disease 1 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal[amp.pharm.mssm.edu]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] It causes both hearing and vision loss 3. It changes in coloring of the hair and skin. 4. It can cause progressive kidney function. 5.[quizlet.com] […] skin Granulosa cell cancer Granulosa cell malignant tumor Gravidic intrahepatic cholestasis Gray platelet syndrome Grayson-Wilbrandt corneal dystrophy Greenberg dysplasia Green[orpha.net]

  • Familial Benign Flecked Retina

    jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] loss of vision, together with weakness and pain in lower legs.[codelay.com] Bardet-Biedl syndrome • Progressive rod-cone dystrophy • Vision loss has an early onset and usually progresses rapidly with severe loss of central and peripheral vision by[slideshare.net]

  • Congenital Hemihypertrophy

    […] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] […] cataract and loss of vision, making it unsuitable for use as first line therapy.[eyewiki.aao.org] The later is very effective in lowering IOP; however, it is associated with significant complications that include phthisis and retinal detachment in 50% of patients, progressive[eyewiki.aao.org]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia[informatics.jax.org] […] external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.[ojrd.biomedcentral.com] Google Scholar Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Gutiérrez Ríos P, Hirano M, Copeland WC, DiMauro S: Progressive[ojrd.biomedcentral.com]

  • Craniodiaphyseal Dysplasia

    Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung cancer Acroerythrokeratoderma Renal hypodysplasia/aplasia 2 Hyperbiliverdinemia[amp.pharm.mssm.edu] ) blindness Impaired hearing (progressive) deafness Other ocular problems Strabismus Bulging eyes (exophthalmos) Loss of binocular vision Hypertelorism Seizures Mental retardation[healthh.com] […] with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.[amp.pharm.mssm.edu]

  • Schneckenbecken Dysplasia

    Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung cancer Acroerythrokeratoderma Renal hypodysplasia/aplasia 2 Hyperbiliverdinemia[amp.pharm.mssm.edu] […] with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.[amp.pharm.mssm.edu] […] familial intrahepatic cholestasis 4 Stargardt disease 1 An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal[amp.pharm.mssm.edu]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Hyperbiliverdinemia, 614156 (3) BLVRB G:600941 . . BLZF1 G:608692 . . BMF G:606266 . . BMI1 G:164831 . . BMIQ1 P:606641 . . BMIQ2 P:606643 . . BMIQ3 P:607446 . .[usegalaxy.org] It is characterized by progressing hair loss from childhood, culminating ...[kegg.jp] H00787 Congenital stationary night blindness Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision[kegg.jp]

  • Tricho-Dento-Osseous Syndrome

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] CRDs are inherited retinal dystrophies characterized by decreased visual acuity, colour vision defects, followed by progressive loss in peripheral vision and colour blindness[slda.lk] jaundice Greenberg dysplasia Greig cephalopolysyndactyly syndrome Greither disease Grisart-Destrée syndrome Griscelli disease type 1 Griscelli disease type 2 Griscelli disease[csbg.cnb.csic.es]

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