{"Name":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","DiseaseID__c":"GARD:0003160","id":3160,"encodedName":"glycogen-storage-disease-due-to-lactate-dehydrogenase-m-subunit-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","Xref_IDs__c":"237982007; C2931743; C538133; MEDGEN:419152; MONDO:0013047; OMIM:612933; ORPHA:284426","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013047","Disease_Description__c":"A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.","GARD_Name__c":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","GARD_Synonym__c":"glycogen storage disease caused by mutation in ldha; glycogen storage disease xi; glycogenosis due to lactate dehydrogenase m-subunit deficiency; gsd due to lactate dehydrogenase m-subunit deficiency; gsd xi; lactate dehydrogenase a deficiency; ldh-m subunit deficiency; ldha glycogen storage disease","Curated_Disease_Description_Source__c":"GARD:0003160","Curated_Disease_Description__c":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. People with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency is caused by genetic changes in the LDHA gene. This condition is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:284426","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013047","ORPHANET_ID__c":"ORPHA:284426","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de la subunidad m de la lactato deshidrogenasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de la subunidad m de la lactato deshidrogenasa","Spanish_GARD_Synonym__c":"deficiencia de la subunidad m-ldh; deficiencia de lactato deshidrogenasa a; glucogenosis por deficiencia de la subunidad m de la lactato deshidrogenasa; gsd por deficiencia de la subunidad m de la lactato deshidrogenasa","Category_Linearization__c":"ORPHA:68367","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":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency is a condition that affects how the body breaks down sugar to use as energy in muscle cells. People with this condition experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency is caused by genetic changes in the LDHA gene. This condition is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0003160","GARD_Synonym__c":"glycogen storage disease caused by mutation in ldha; glycogen storage disease xi; glycogenosis due to lactate dehydrogenase m-subunit deficiency; gsd due to lactate dehydrogenase m-subunit deficiency; gsd xi; lactate dehydrogenase a deficiency; ldh-m subunit deficiency; ldha glycogen storage disease","Name":"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:284426"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003160","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931743","Source__c":"C2931743","Xref__c":"C2931743"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538133","Source__c":"MONDO:0013047","Xref__c":"C538133"},{"URL__c":"https://www.omim.org/entry/612933","Source__c":"C2931743; MONDO:0013047; ORPHA:284426","Xref__c":"OMIM:612933"},{"URL__c":"https://www.orpha.net/en/disease/detail/284426","Source__c":"C2931743; MONDO:0013047; ORPHA:284426","Xref__c":"ORPHA:284426"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419152","Source__c":"C2931743","Xref__c":"MEDGEN:419152"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237982007","Source__c":"MONDO:0013047","Xref__c":"237982007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013047","Source__c":"GARD:0003160","Xref__c":"MONDO:0013047"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LDHA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ldha","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The inability to maintain a comfortable body temperature in warm or hot weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002046","HPO_Synonym__c":"Heat intolerance; Intolerance to heat and fevers","HPO_Name__c":"Heat intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031190","HPO_Synonym__c":"Superficial perivascular inflammatory infiltrate","HPO_Name__c":"Superficial dermal perivascular inflammatory infiltrate","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040189","HPO_Synonym__c":"Desquamation; flaking skin; peeling skin; Scaling skin; Scaly skin","HPO_Name__c":"Scaling skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045040","HPO_Synonym__c":"Abnormal circulating LDH concentration; Abnormal lactate dehydrogenase level; Abnormal LDH level; AbnormalLDH level","HPO_Name__c":"Abnormal circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the birth process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001787","HPO_Synonym__c":"Abnormal delivery; Delivery complication","HPO_Name__c":"Abnormal delivery","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lesion of the skin with a ring-like distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025528","HPO_Name__c":"Annular cutaneous lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025526","HPO_Synonym__c":"Psoriatic-like lesion","HPO_Name__c":"Psoriasiform lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is restricted to a particular body region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011356","HPO_Name__c":"Regional abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Collection of neutrophils in the dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031236","HPO_Name__c":"Predominantly dermal neutrophilic infiltrate","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhabdomyolysis induced by exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009045","HPO_Synonym__c":"Rhabdomyolysis with exercise","HPO_Name__c":"Exercise-induced rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008331","HPO_Synonym__c":"Elevated CK after exercise; Elevated CPK after exercise; Elevated creatine phosphokinase after exercise; Elevated phospho-CK after exercise; Elevated phospho-creatine kinase after exercise; Increased CK after exercise; Increased creatine kinase after exercise; Increased creatine phosphokinase after exercise; Increased phospho-CK after exercise; Increased phospho-creatine kinase after exercise","HPO_Name__c":"Elevated creatine kinase after exercise","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200039","HPO_Synonym__c":"Pimple; Pustula; Pustular lesion; Pustules; Skin pustule; Skin pustules","HPO_Name__c":"Pustule","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284426","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007432","HPO_Name__c":"Intermittent generalized erythematous papular rash","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["glycogen storage disease caused by mutation in ldha"," glycogen storage disease xi"," glycogenosis due to lactate dehydrogenase m-subunit deficiency"," gsd due to lactate dehydrogenase m-subunit deficiency"," gsd xi"," lactate dehydrogenase a deficiency"," ldh-m subunit deficiency"," ldha glycogen storage disease"]}