{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2U","DiseaseID__c":"GARD:0017519","id":17519,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2u","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2U","Xref_IDs__c":"C5190987; DOID:0110295; MEDGEN:1683417; MONDO:0014474; OMIM:616052; ORPHA:352479","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014474","Disease_Description__c":"Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2U","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy due to ispd deficiency; autosomal recessive limb girdle muscular dystrophy type 2u; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ispd; autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency; ispd autosomal recessive limb-girdle muscular dystrophy; ispd-related lgmd r20; ispd-related limb-girdle muscular dystrophy r20; lgmd type 2u; lgmd2u; lgmd2u - autosomal recessive limb girdle muscular dystrophy type 2u; limb-girdle muscular dystrophy type 2u; mddgc7; muscular dystrophy limb-girdle type 2u; muscular dystrophy-dystroglycanopathy (limb-girdle) type c7; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7; muscular dystrophy, limb-girdle, type 2u","Curated_Disease_Description_Source__c":"ORPHA:352479","Curated_Disease_Description__c":"A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:352479","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014474","ORPHANET_ID__c":"ORPHA:352479","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r20 asociada al gen ispd","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia muscular de cinturas r20 asociada al gen ispd","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva por deficiencia de ispd; distrofia muscular de cinturas autosómica recesiva tipo 2u; lgmd2u","Category_Linearization__c":"ORPHA:98006","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":"A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder characterized by infantile to childhood-onset of slowly progressive, principally proximal, shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures, and muscle hypertrophy, usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.","Curated_Disease_Description_Source__c":"ORPHA:352479","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy due to ispd deficiency; autosomal recessive limb girdle muscular dystrophy type 2u; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ispd; autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency; ispd autosomal recessive limb-girdle muscular dystrophy; ispd-related lgmd r20; ispd-related limb-girdle muscular dystrophy r20; lgmd type 2u; lgmd2u; lgmd2u - autosomal recessive limb girdle muscular dystrophy type 2u; limb-girdle muscular dystrophy type 2u; mddgc7; muscular dystrophy limb-girdle type 2u; muscular dystrophy-dystroglycanopathy (limb-girdle) type c7; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7; muscular dystrophy, limb-girdle, type 2u","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2U","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"Muscular Dystrophy","Tag_Category__c":"Account;Disease Category","category_description":"Muscular dystrophy refers to a group of inherited disorders that cause muscles to gradually weaken and break down.","curated_tag_name":"Muscular dystrophy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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:352479"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352479"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1683417","Source__c":"C5190987","Xref__c":"MEDGEN:1683417"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190987","Source__c":"C5190987","Xref__c":"C5190987"},{"URL__c":"https://www.orpha.net/en/disease/detail/352479","Source__c":"C5190987; MONDO:0014474; ORPHA:352479","Xref__c":"ORPHA:352479"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110295","Source__c":"MONDO:0014474","Xref__c":"DOID:0110295"},{"URL__c":"https://www.omim.org/entry/616052","Source__c":"C5190987; MONDO:0014474; ORPHA:352479","Xref__c":"OMIM:616052"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783554002","Source__c":"C5190987","Xref__c":"783554002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014474","Source__c":"GARD:0017519","Xref__c":"MONDO:0014474"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CRPPA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/crppa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003707","HPO_Synonym__c":"Pseudohypertrophy of the calves","HPO_Name__c":"Calf muscle pseudohypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003325","HPO_Synonym__c":"Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle","HPO_Name__c":"Limb-girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased CPK level between 4X and 50X above the upper normal level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030234","HPO_Synonym__c":"Highly elevated CPK; Highly elevated creatine phosphokinase; Highly elevated serum CK; Highly elevated serum CPK; Highly elevated serum phosph-CK","HPO_Name__c":"Highly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008997","HPO_Synonym__c":"Proximal muscle weakness in upper limbs","HPO_Name__c":"Proximal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002792","HPO_Synonym__c":"Decreased vital capacity","HPO_Name__c":"Reduced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to walk in a person who previous had the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002505","HPO_Synonym__c":"Loss of ability to walk","HPO_Name__c":"Loss of ambulation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030046","HPO_Name__c":"Hypoglycosylation of alpha-dystroglycan","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal protrusion of the scapula away from the surface of the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003691","HPO_Synonym__c":"Scapula alata; Winged scapulae; Winged scapulas; Winged shoulder blade","HPO_Name__c":"Scapular winging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Occasional (5-29%)","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:352479","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cognitive, psychiatric, or memory anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011446","HPO_Synonym__c":"Abnormality of higher mental function","HPO_Name__c":"Abnormality of mental function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352479","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy due to ispd deficiency"," autosomal recessive limb girdle muscular dystrophy type 2u"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in ispd"," autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency"," ispd autosomal recessive limb-girdle muscular dystrophy"," ispd-related lgmd r20"," ispd-related limb-girdle muscular dystrophy r20"," lgmd type 2u"," lgmd2u"," lgmd2u - autosomal recessive limb girdle muscular dystrophy type 2u"," limb-girdle muscular dystrophy type 2u"," mddgc7"," muscular dystrophy limb-girdle type 2u"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c7"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7"," muscular dystrophy, limb-girdle, type 2u"]}