Mitochondria Phenome Knowledgebase

Gene Symbol CYB5R3
Ensembl ID ENSG00000100243 Entrez 1727
Gene Alias B5R; DIA1 Subcellular Locations Endoplasmatic-reticulum Membrane Mitochondria Mitochondrial-outer-membrane
Map Position 22q13.31-qter|22q13.2-q13.31 Subcell PMIDs 7668255
OMIM Gene 250800 Protein Complex
Swissprot ID P00387 Swissprot Description NADH-cytochrome b5 reductase (B5R) (Diaphorase-1)
OMIM Disease Methemoglobinemia (type I and II) due to deficiency of CYB5 [250800]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CYB5R3 250800 Musculoskeletal-diseases musculoskeletal #7668255 #7718898 #9266404 #10874300
CYB5R3 250800 Bone-diseases musculoskeletal #10874300
CYB5R3 250800 Spinal-diseases scoliosis musculoskeletal 10874300
CYB5R3 250800 Craniofacial-abnormalities musculoskeletal #7668255 #7718898 #9266404 #10874300
CYB5R3 250800 Microcephaly severe musculoskeletal 7668255 7718898 9266404 10874300
CYB5R3 250800 Digestive-system-diseases gastrointestinal #7668255
CYB5R3 250800 Feeding-difficulties gastrointestinal 7668255
CYB5R3 250800 Respiratory-tract-diseases respiratory #15953014
CYB5R3 250800 Respiration-disorders dyspnea respiratory 15953014
CYB5R3 250800 Nervous-system-diseases neurologic #2107882 #7668255 #7718898 #8119939 #8874222 #9266404 #9886302 #10874300 #11295830 #15744830 #16304354
CYB5R3 250800 Central-nervous-system-diseases neurologic #7668255 #7718898 #8874222 #9266404 #10874300 #11295830
CYB5R3 250800 Brain-diseases neurologic #7668255 #10874300 #11295830
CYB5R3 250800 Basal-ganglia-diseases MRI findings; hypoplasia neurologic 10874300
CYB5R3 250800 Seizures opisthotonos; epilepsia neurologic 7668255 10874300
CYB5R3 250800 Cerebellar-atrophy MRI findings; cerebellar atrophy neurologic 10874300
CYB5R3 250800 Cerebral-atrophy MRI findings; cortical atrophy; frontal; bitemporal neurologic 10874300
CYB5R3 250800 Corpus-callosum-hypoplasia corpus callosum atrophy neurologic 11295830
CYB5R3 250800 Movement-disorders hyperkinetic; involuntary movements neurologic 7668255 #7718898 #8874222 #9266404 #10874300
CYB5R3 250800 Dystonic-disorders dystonic cerebral palsy; cerebral palsy neurologic 7668255 9266404
CYB5R3 250800 Athetosis bilateral athetosis; athetoid cerebral palsy; cerebral palsy neurologic 7718898 9266404 10874300
CYB5R3 250800 Tremor mild tremor neurologic 8874222
CYB5R3 250800 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; bilateral symmetric; cortex abnormal; cerebellum abnormal; myelinization abnormal; basal ganglia abnormal neurologic 10874300 11295830
CYB5R3 250800 Neurologic-manifestations neurologic #2107882 #7668255 #7718898 #8119939 #8874222 #9266404 #9886302 #10874300 #15744830 #16304354
CYB5R3 250800 Myoclonus myoclonic jerks neurologic 7668255
CYB5R3 250800 Neurobehavioral-manifestations neurologic #2107882 #7668255 #7718898 #8119939 #8874222 #9266404 #15744830 #16304354
CYB5R3 250800 Consciousness-disorders reactions impaired; simple and primitive reactions neurologic 7668255
CYB5R3 250800 Mental-retardation intelligence quotient reduced; methemoglobinemia type II related neurologic 2107882 7718898 8119939 8874222 9266404 15744830 16304354
CYB5R3 250800 Developmental-delay psychomotor retardation; neuropsychologic retardation; head lag; neurodevelopmental delay; methemoglobinemia type II related neurologic 7668255 8119939 8874222 9886302 10874300 11295830 15744830 16304354
CYB5R3 250800 Neuromuscular-manifestations neurologic #7668255 #8874222 #9886302 #10874300
CYB5R3 250800 Muscle-hypertonia generalized; hypertonia; lower limb hypertonia; stiff legs neurologic 8874222 9886302 10874300
CYB5R3 250800 Muscle-spasticity severe spastic and dystonic quadriparesis; spastic quadriparesis; spastic tetraparesis neurologic 7668255 10874300
CYB5R3 250800 Paralysis-Paresis severe spastic and dystonic quadriparesis; spastic quadriparesis; spastic tetraparesis neurologic 7668255 10874300
CYB5R3 250800 Eye-diseases ophthalmologic #8874222 #10874300 #11295830
CYB5R3 250800 Ocular-motility-disorders ophthalmologic #8874222 #10874300
CYB5R3 250800 Strabismus convergent squint ophthalmologic 8874222 10874300
CYB5R3 250800 Vision-disorders amaurosis; blindness ophthalmologic 11295830
CYB5R3 250800 Cardiovascular-diseases cardiovascular #10874300
CYB5R3 250800 Cardiorespiratory-arrest sudden death cardiovascular 10874300
CYB5R3 250800 Hematologic-diseases hematologic #2107882 #7718898 #8119939 #8874222 #9266404 #9695975 #9886302 #10807796 #10874300 #11159544 #11295830 #12393396 #12756024 #15744830 #15953014 #16304354
CYB5R3 250800 Methemoglobinemia methemoglobin levels elevated; decreased methemoglobin reduction; methemoglobulinemia hematologic 2107882 7718898 8119939 8874222 9266404 9695975 9886302 10807796 10874300 11159544 11295830 12393396 12756024 15744830 15953014 16304354
CYB5R3 250800 Polycythemia compensatory elevation; hemoglobin concentration increased hematologic 16304354
CYB5R3 250800 Cyanosis severe; central cyanosis; slate gray cyanosis; cyanosed; cyanotic miscellaneous 2107882 7668255 7718898 8119939 8874222 9266404 9695975 9886302 10807796 10874300 11159544 11295830 12393396 12756024 15744830 15953014 16304354
CYB5R3 250800 Exercise-intolerance fatigue miscellaneous 15953014
CYB5R3 250800 Growth-disorders miscellaneous #7668255 #8874222 #10874300 #15744830
CYB5R3 250800 Failure-to-thrive miscellaneous 7668255 10874300 15744830
CYB5R3 250800 Growth-deficiency growth retardation miscellaneous 8874222 10874300
CYB5R3 250800 Vitamin-responsive ascorbic acid; vitamin C miscellaneous 10807796 11295830 12393396 12756024 15744830

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