{"Name":"Myoglobinuria, recurrent","DiseaseID__c":"GARD:0003879","id":3879,"encodedName":"myoglobinuria-recurrent","IsDeleted":false,"Disease_Name_Full__c":"Myoglobinuria, recurrent","Xref_IDs__c":"C1838877; C564018; MEDGEN:333201; MONDO:0010791; OMIM:550500","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010791","Disease_Description__c":"An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.","GARD_Name__c":"Myoglobinuria, recurrent","GARD_Synonym__c":"mt-cyb-related recurrent myoglobinuria; myoglobinuria, episodic; recurrent myoglobinuria","Curated_Disease_Description_Source__c":"MONDO:0010791","Curated_Disease_Description__c":"An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:550500","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010791","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.","Curated_Disease_Description_Source__c":"MONDO:0010791","GARD_Synonym__c":"mt-cyb-related recurrent myoglobinuria; myoglobinuria, episodic; recurrent myoglobinuria","Name":"Myoglobinuria, recurrent","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333201","Source__c":"C1838877","Xref__c":"MEDGEN:333201"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838877","Source__c":"C1838877","Xref__c":"C1838877"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564018","Source__c":"MONDO:0010791","Xref__c":"C564018"},{"URL__c":"https://www.omim.org/entry/550500","Source__c":"C1838877; MONDO:0010791","Xref__c":"OMIM:550500"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003652","Source__c":"C1838877","Xref__c":"HP:0003652"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010791","Source__c":"GARD:0003879","Xref__c":"MONDO:0010791"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1119235000","Source__c":"C1838877","Xref__c":"1119235000"}],"Inheritance__c":["Mitochondrial inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:550500","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008305","HPO_Name__c":"Exercise-induced myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:550500","Feature__r":{"HPO_Description__c":"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003200","HPO_Synonym__c":"Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged-red fibers","HPO_Name__c":"Ragged-red muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:550500","Feature__r":{"HPO_Description__c":"Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003652","HPO_Synonym__c":"Myoglobinuria, episodic; Myoglobinuria, recurrent","HPO_Name__c":"Recurrent myoglobinuria","HPO_Feature_Type__c":"Lab"}}],"tags":{},"synonyms":["mt-cyb-related recurrent myoglobinuria"," myoglobinuria, episodic"," recurrent myoglobinuria"]}