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70 Possible Causes for Hyperbiliverdinemia, Optic Atrophy

  • Neuronal Ceroid Lipofuscinosis

    An optic fundoscopy revealed a devastated retina and severe optic atrophy. We report this case with the brief review of related literature.[ncbi.nlm.nih.gov] […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] All of the patients had seizures, myoclonia, cognitive deterioration, cerebellar and pyramidal signs and also optic atrophy.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Primary Microcephaly Type 10

    PCH3 ( OMIM ) is characterized by hypotonia, hyperreflexia, microcephaly, optic atrophy, and seizures.[mendelian.co] […] to 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1-SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] 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]

  • Craniodiaphyseal Dysplasia

    atrophy ; Papilledema ; Progressive ; Progressive visual loss ; Short stature ; Thickened ribs ; Wide nasal bridge Associated Genes SOST (Withdrawn symbols: DAND6, VBCH )[mousephenotype.org] Joubert syndrome 17 Cardiac conduction defect, nonspecific Lethal multiple pterygium syndrome Non-small cell lung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] atrophy 0000648 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Diaphyseal dysplasia 0100252 Diaphyseal sclerosis[rarediseases.info.nih.gov]

  • Familial Benign Flecked Retina

    atrophy (MT-CO1) Leber optic atrophy (MT-CO3) Leber optic atrophy (MT-ND1) Leber optic atrophy (MT-ND2) Leber optic atrophy (MT-ND4) Leber optic atrophy (MT-ND4L) Leber optic[oftalmic.ru] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] […] neuropathy MAK Retinitis pigmentosa MT-ND1 MELAS MT-ND5 MELAS MT-TH MELAS MT-TL1 MELAS MT-TV MELAS MERTK Retinitis pigmentosa MFN2 dominant optic atrophy with neuropathy[molecularvisionlab.com]

  • Waters-West Syndrome

    Atrophy OMIM:500001 Leber Optic Atrophy and Dystonia OMIM:308905 Leber Optic Atrophy, Susceptibility to OMIM:245900 Lecithin:cholesterol Acyltransferase Deficiency OMIM:615396[informatics.jax.org] 21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] Atrophy 3, Autosomal Dominant OPA3, Autosomal Dominant Optic Atrophy And Cataract, Autosomal Dominant OPA3 165300 Genetic Test Registry Optic Disc Anomalies With Retinal[ukgtn.nhs.uk]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    Less commonly reported features include optic atrophy, brachydactyly, and cone epiphyses.[marinesco-sjogren.org] Hyperbilirubinemia, Rotor Type; HBLRR OMIM:237800 Hyperbilirubinemia, Shunt, Primary; PSHB OMIM:237900 Hyperbilirubinemia, Transient Familial Neonatal; HBLRTFN OMIM:614156 Hyperbiliverdinemia[informatics.jax.org] Patients of the two excluded families had all MSS features (but the myopathic changes) plus peripheral neuropathy and optic atrophy, and various combinations of microcornea[nature.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Atrophy Metaphyseal Dysplasia, Braun-Tinschert Type Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth Metatropic Dwarfism Metatropic Dwarfism, Type II Microcephalic[rgd.mcw.edu] 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] Atrophy 1 Optic Atrophy 1 with Deafness Optic Atrophy, Deafness, Opthalmoplegia, and Myopathy Optic Atrophy and Cataract Ornithine Transcarbamylase Deficiency Osteogenesis[sequencing.com]

  • Oculootoradial Syndrome

    atrophy colobomas Dysmorphism Craniofacial dysmorphism with Dysostosis acral with facial and Optic atrophy opthalmoplegia ocular coloboma absent corpus HLA Class 2-Negative[yumpu.com] […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] Treft Sanborn Carey syndrome 0 *Ataxia *Blepharoptosis *Hearing Loss, Sensorineural *Muscular Diseases *Ophthalmoplegia *Optic Atrophy.[reference.md]

  • Familial Recurrent Peripheral Facial Palsy

    atrophy Early-onset ataxia with dementia Early-onset autosomal dominant Alzheimer disease Early-onset cerebellar ataxia with retained tendon reflexes Early-onset epileptic[se-atlas.de] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] atrophy plus syndrome Autosomal dominant primary microcephaly Autosomal dominant proximal spinal muscular atrophy Autosomal dominant pure spastic paraplegia Autosomal dominant[se-atlas.de]

  • Beta-Ureidopropionase Deficiency

    In addition, there were partial optic atrophy, pigmentary retinopathy and mild cerebellar hypoplasia.[ncbi.nlm.nih.gov] […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] Atrophy Leber Optic Atrophy And Dystonia Leigh Syndrome Lesch-Nyhan Syndrome Leukodystrophy And Acquired Microcephaly With Or Without Dystonia Leukodystrophy , Hypomyelinating[familydiagnosis.com]

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