Mitochondria Phenome Knowledgebase

Gene Symbol CPOX
Ensembl ID ENSG00000080819 Entrez 1371
Gene Alias CPO; CPX; HCP Subcellular Locations Mitochondria
Map Position 3q12 Subcell PMIDs 8407975
OMIM Gene 121300 Protein Complex
Swissprot ID P36551 Swissprot Description Coproporphyrinogen III oxidase, mitochondrial precursor
OMIM Disease Hereditary coproporphyria (HCP) [121300]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
CPOX 121300 Digestive-system-diseases gastrointestinal #6886003 #7616659 #9048920 #9454777 #9843038 #9888388 #11074238 #11202054 #11309681 #11739202 #12181641 #12227458 #15896662
CPOX 121300 Gastrointestinal-diseases gastrointestinal #7616659 #12181641 #15896662
CPOX 121300 Intestinal-obstruction ileus; constipation gastrointestinal 7616659 12181641 15896662
CPOX 121300 Liver-diseases map like appearance of the liver surface; slightly depressed dark bluish areas and reddish brown areas; liver biopsy showed red fluorescence; hydropic degeneration of hepatocytes; needle shaped crystallines gastrointestinal #6886003 7616659 #9454777 #11739202
CPOX 121300 Hepatomegaly neonatal; hepatosplenomegaly gastrointestinal 6886003 9454777 11739202
CPOX 121300 Abdominal-pain colic; myalgias; recurrent; abdominal complaints; abdominal attacks; neurovisceral crisis gastrointestinal 7616659 9048920 9454777 9843038 9888388 11074238 11202054 11309681 12181641 12227458 15896662
CPOX 121300 Vomiting nausea; reflux esophagitis gastrointestinal 9888388 11074238 12181641 12227458
CPOX 121300 Respiratory-tract-diseases respiratory #11202054 #11739202
CPOX 121300 Respiration-disorders respiratory #11202054 #11739202
CPOX 121300 Hyperventilation tachypnea respiratory 11739202
CPOX 121300 Respiratory-insufficiency respiratory paralysis respiratory 11202054
CPOX 121300 Nervous-system-diseases neurologic #7616659 #9454777 #9888388 #11074238 #11202054 #11739202 #12181641 #15896662
CPOX 121300 Central-nervous-system-diseases neurologic #7616659 #11202054 #12181641 #15896662
CPOX 121300 Brain-diseases neurologic #7616659 #11202054 #12181641 #15896662
CPOX 121300 Seizures epilepsy; epileptic syndrome neurologic 7616659 11202054 12181641 15896662
CPOX 121300 Headache-disorders headache; dizziness neurologic 11202054
CPOX 121300 Neurologic-manifestations neurologic #11074238 #11202054 #11739202 #15896662
CPOX 121300 Neurobehavioral-manifestations neurologic #11202054 #11739202 #15896662
CPOX 121300 Speech-disorders neurologic #11202054
CPOX 121300 Dysarthria neurologic 11202054
CPOX 121300 Consciousness-disorders coma neurologic 15896662
CPOX 121300 Mental-retardation neurologic 15896662
CPOX 121300 Developmental-delay psychomotor retardation neurologic 15896662
CPOX 121300 Psychomotor-agitation agitation neurologic 15896662
CPOX 121300 Lethargy neurologic 11739202
CPOX 121300 Neuromuscular-manifestations neurologic #11074238 #11202054 #11739202 #15896662
CPOX 121300 Muscle-spasticity spastic motor impairment neurologic 15896662
CPOX 121300 Muscle-hypotonia neurologic 11739202
CPOX 121300 Muscle-weakness spastic weakness; upper limbs; lower limbs; muscular asthenia neurologic 11074238 11202054 15896662
CPOX 121300 Paralysis-Paresis quadriplegia neurologic 11202054
CPOX 121300 Peripheral-nervous-system-diseases peripheral nervous system dysfunction neurologic 7616659 #9454777 #9888388 #11074238 #11202054 #12181641 #15896662
CPOX 121300 Polyneuropathies motor neuropathy; sensory neuropathy; paresthesia; dysesthesia; lower extremities; peripheral neuropathy; neuropathy neurologic 9454777 9888388 11074238 11202054 12181641 15896662
CPOX 121300 Genitourinary-diseases genitourinary #9454777 #11739202
CPOX 121300 Urogenital-abnormalities genitourinary #9454777 #11739202
CPOX 121300 Cryptorchidism unilateral cryptorchidism genitourinary 11739202
CPOX 121300 Hypospadias severe hypospadias genitourinary 9454777 11739202
CPOX 121300 Cardiovascular-diseases cardiovascular #7616659 #9454777 #9888388 #11074238 #11804210 #15896662
CPOX 121300 Heart-diseases cardiovascular #7616659 #9454777 #9888388 #11074238 #15896662
CPOX 121300 Arrhythmia tachycardia cardiovascular 7616659 9454777 9888388 11074238 15896662
CPOX 121300 Vascular-diseases cardiovascular #7616659 #9454777 #9888388 #11804210
CPOX 121300 Hypertension during attacks cardiovascular 7616659 9454777 9888388 11804210
CPOX 121300 Hematologic-diseases hematologic #6886003 #9454777 #11739202 #16159891
CPOX 121300 Anemia hemolytic; sideroblasts; dyserythropoiesis; erythroblastosis; dacryocytes; eptocytes; echinocytes hematologic 6886003 9454777 11739202 16159891
CPOX 121300 Blood-coagulation-disorders hematologic #11739202
CPOX 121300 Petechiae hematologic 11739202
CPOX 121300 Blood-platelet-disorders hematologic #11739202
CPOX 121300 Thrombocytopenia hematologic 11739202
CPOX 121300 Bone-marrow-diseases hyperplastic bone marrow; 50% erythroblasts hematologic 9454777
CPOX 121300 Skin-diseases skin fragility; tingling; cutaneous lesions; milia; hyperplasic epidermis; hypergranulosis; hyperkeratosis; irregular acanthosis; hypoderm and derm inflammation with predominant polynuclear cells; urticarial exanthem dermatologic #6886003 #9454777 #9843038 #9888388 11074238 11202054 11309681 11739202 12181641 16159891
CPOX 121300 Photosensitivity-disorders occasional; skin photosensitivity; photosensitive cutaneous lesions dermatologic 9454777 9843038 9888388 11074238 11739202 16159891
CPOX 121300 Pigmentation-disorders dermatologic #16159891
CPOX 121300 Hyperpigmentation on light exposed areas; backs of hands; arms; face dermatologic 16159891
CPOX 121300 Prurigo on light exposed areas; backs of hands; arms; face dermatologic 16159891
CPOX 121300 Pruritus itching dermatologic 16159891
CPOX 121300 Blistering bullous eruptions dermatologic 6886003 12181641
CPOX 121300 Metabolic-diseases metabolic #6886003 #7616659 #9048920 #9454777 #9843038 #9888388 #11074238 #11202054 #11309681 #11739202 #11804210 #12181641 #12227458 #15896662 #16159891
CPOX 121300 Glucose-metabolism-disorders metabolic #11739202
CPOX 121300 Hypoglycemia metabolic 11739202
CPOX 121300 Hyperbilirubinemia neonatal; jaundice; icterus; icteric skin metabolic 6886003 9454777 11739202 16159891
CPOX 121300 Hemochromatosis hemosiderosis; liver metabolic 9454777
CPOX 121300 Water-electrolyte-imbalance metabolic #15896662
CPOX 121300 Hyponatremia metabolic 15896662
CPOX 121300 Hyperferricemia high serum ferritin levels; iron overload metabolic 16159891
CPOX 121300 Porphyrins-abnormal plasma; erythrocyte; urine; stool; elevated urine delta aminolevulinic acid; elevated urine porphobilinogen; harderoporphyrins abnormal metabolic 6886003 7616659 9048920 9454777 9843038 9888388 11074238 11202054 11309681 11739202 11804210 12181641 12227458 15896662 16159891
CPOX 121300 Porphyrinuria dark red urine; porphobilinogen elevated; portwine colour metabolic 6886003 7616659 9048920 9843038 9888388 11074238 11202054 11309681 11739202 11804210 12227458 15896662
CPOX 121300 Endocrine-system-diseases endocrinologic #11739202
CPOX 121300 Adrenal-gland-diseases endocrinologic #11739202
CPOX 121300 Adrenal-insufficiency adrenal hypofunction endocrinologic 11739202
CPOX 121300 Gonadal-disorders endocrinologic #11739202
CPOX 121300 Sex-differentiation-disorders bifid scrotum; vaginal opening next to urinary meatus; ambiguous external genitalia endocrinologic 11739202
CPOX 121300 Hermaphroditism male pseudohermaphrodism endocrinologic 11739202
CPOX 121300 Hypoandrogenism plasma testosterone levels decreased; low normal endocrinologic 11739202
CPOX 121300 Pituitary-diseases endocrinologic #11739202
CPOX 121300 Hyperpituitarism corticotropin levels abnormal; ACTH elevated endocrinologic 11739202
CPOX 121300 Psychiatric-disorders psychiatric #11804210 #12181641
CPOX 121300 Mental-disorders psychiatric #11804210 #12181641
CPOX 121300 Anxiety-disorders anxiety psychiatric 11804210 12181641
CPOX 121300 Mood-disorders psychiatric #11804210 #12181641
CPOX 121300 Depressive-disorder depression; lability; asthenia; psychiatric symptoms psychiatric 11804210 12181641
CPOX 121300 Splenomegaly neonatal; hepatosplenomegaly miscellaneous 6886003 9454777 11739202

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