Create issue ticket

43 Possible Causes for Hyperbiliverdinemia, Ragged Red Fibers

  • Limb-Girdle Muscular Dystrophy Type 1H

    red fibers; multiple mitochondrial DNA deletions in muscle Table 2: Limb-girdle muscular dystrophy type 2: Autosomal Recessive Disease Protein Defect Onset Hyper CKemia Progression[now.aapmr.org] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] Muscle biopsies showed myopathic features, ragged red fibers, and a sub-sarcolemmal accumulation of structurally normal mitochondria.[mafiadoc.com]

  • 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] Muscle biopsy findings are generally non-specific, although ragged red fibers and abnormal mitochondria have been reported.[marinesco-sjogren.org] red fibers Radial defect Robin sequence Chordoma Tonoki syndrome Short limb dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG[checkrare.com]

  • Hereditary Hyperekplexia

    A typical case of myoclonic epilepsy with ragged red fibers (MERRF) and the lessons learned. J Postgrad Med 2015;61:200-2. [ PUBMED ] [Full text] 10.[pediatricneurosciences.com] 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]

  • Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth

    […] hsa04975 hsa04977 ] H01474 Acquired generalized lipodystrophy H01475 Lipodystrophy H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy [PATH: hsa04150 hsa04151 ] H01936 Hyperbiliverdinemia[genome.jp] [PATH: hsa00280 ] H01351 Spastic ataxia [PATH: hsa00970 ] H01352 Mitochondrial trifunctional protein deficiency [PATH: hsa00071 hsa01212 ] H01356 Myoclonic Epilepsy and Ragged-Red[genome.jp] Fiber Disease [PATH: hsa00970 hsa00190 ] H01363 NARP syndrome [PATH: hsa00190 ] H01364 3-Hydroxyacyl-CoA dehydrogenase deficiency [PATH: hsa00062 hsa00071 hsa00280 hsa00310[genome.jp]

  • Waters-West Syndrome

    21-hydroxylase deficiency, 201910 UGT1A1 Hyperbilirubinemia, familial transcient neonatal, 237900 SLCO1B1- SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 BLVRA Hyperbiliverdinemia[gsdseq.ir] […] of the diaphragm Edema of the dorsum of hands Cataract Epicanthus Nevus Downslanted palpebral fissures Kyphosis Decreased fetal movement Pulmonary hypoplasia Irritability Ragged-red[mendelian.co] red fibers Radial defect Robin sequence Chordoma Tonoki syndrome Short limb dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG[checkrare.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    red fibers Radial defect Robin sequence Chordoma Tonoki syndrome Short limb dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG[checkrare.com] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] Trismus-pseudocamptodactyly syndrome Combined oxidative phosphorylation deficiency 16 Arthrogryposis multiplex congenita, distal, X-linked Absence of gluteal muscle Myoclonic epilepsy with ragged[checkrare.com]

  • Glycogen Storage Disease due to Muscle Beta-Enolase Deficiency

    […] degeneration & Regeneration Increased glycogen in muscle fibers Mitochondria Increased Size & Number Abnormal shape & structure No ragged red fibers Vessels: Degenerating[neuromuscular.wustl.edu] jaundice Green monkey disease Greig cephalopolysyndactyly syndrome Greither disease GRFoma GRF tumor Grisart-Destrée syndrome Griscelli-Pruniéras syndrome Griscelli-Pruniéras[orpha.net] […] axons; Regeneration Joint contractures : Ankles Course Onset 2 years Majority die 6 years Respiratory failure ; Cardiomyopathy Muscle pathology: Variable severity Myopathy: Fiber[neuromuscular.wustl.edu]

  • 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] […] syndrome Myoadenylate deaminase deficiency Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic-astatic epilepsy in early childhood Myoclonus epilepsy associated with ragged-red[csbg.cnb.csic.es] 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]

  • Nestor-Guillermo Progeria Syndrome

    Mitochondrial phosphate carrier deficiency (MPCD) Methacrylic aciduria Spastic ataxia (SPAX) Mitochondrial trifunctional protein (TFP) deficiency Myoclonic Epilepsy and Ragged-Red[csirnotes.com] Maturity onset diabetes of the young, type 11, BLM Bloom syndrome, BLNK Agammaglobulinemia 4, BLOC1S3 Hermansky Pudlak syndrome 8, BLOC1S6 Hermansky pudlak syndrome 9, BLVRA Hyperbiliverdinemia[healthdocbox.com] 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]

  • 2-Aminoadipic 2-Oxoadipic Aciduria

    […] dystrophy type III Granular-lattice corneal dystrophy Granulomatosis with polyangiitis Gravidic intrahepatic cholestasis Gray platelet syndrome Gräsbeck-Imerslund disease Green[csbg.cnb.csic.es] Myoclonic epilepsy with ragged-red fibers syndrome (MERRF). Rett like syndrome; Rett syndrome variant, Atypical Rett syndrome (Atypical RTT).[neurometplus.com] […] deficiency, lysinuric protein intolerance, ubiquinol-cytochrome C reductase (Complex III) deficiency, cytochrome oxidase (Complex IV) deficiency, myoclonic epilepsy with ragged-red[google.com]

Further symptoms

Similar symptoms