{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2R1","DiseaseID__c":"GARD:0017869","id":17869,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2r1","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2R1","Xref_IDs__c":"C142082; C4310660; DOID:0080762; MEDGEN:934627; MONDO:0014977; OMIM:617232; ORPHA:480682","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014977","Disease_Description__c":"An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2R1","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2z; autosomal recessive limb-girdle muscular dystrophy caused by mutation in poglut1; autosomal recessive limb-girdle muscular dystrophy type 2z; lgmd type 2z; lgmd2z; lgmdr21; limb girdle muscular dystrophy type 2z; limb-girdle muscular dystrophy type 2z; muscular dystrophy, limb-girdle, autosomal recessive 21; muscular dystrophy, limb-girdle, type 2z; poglut1 autosomal recessive limb-girdle muscular dystrophy; poglut1-related lgmd r21; poglut1-related limb girdle muscular dystrophy r21; poglut1-related limb-girdle muscular dystrophy r21; protein o-glucosyltransferase 1-related limb girdle muscular dystrophy r21","Curated_Disease_Description_Source__c":"ORPHA:480682","Curated_Disease_Description__c":"A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:480682","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014977","ORPHANET_ID__c":"ORPHA:480682","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r21 asociada a poglut1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia muscular de cinturas r21 asociada a poglut1","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2z; lgmd2z","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 autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.","Curated_Disease_Description_Source__c":"ORPHA:480682","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2z; autosomal recessive limb-girdle muscular dystrophy caused by mutation in poglut1; autosomal recessive limb-girdle muscular dystrophy type 2z; lgmd type 2z; lgmd2z; lgmdr21; limb girdle muscular dystrophy type 2z; limb-girdle muscular dystrophy type 2z; muscular dystrophy, limb-girdle, autosomal recessive 21; muscular dystrophy, limb-girdle, type 2z; poglut1 autosomal recessive limb-girdle muscular dystrophy; poglut1-related lgmd r21; poglut1-related limb girdle muscular dystrophy r21; poglut1-related limb-girdle muscular dystrophy r21; protein o-glucosyltransferase 1-related limb girdle muscular dystrophy r21","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2R1","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":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:480682"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080762","Source__c":"MONDO:0014977","Xref__c":"DOID:0080762"},{"URL__c":"https://www.orpha.net/en/disease/detail/480682","Source__c":"C4310660; MONDO:0014977; ORPHA:480682","Xref__c":"ORPHA:480682"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C142082","Source__c":"C4310660; MONDO:0014977","Xref__c":"C142082"},{"URL__c":"https://www.omim.org/entry/617232","Source__c":"C4310660; MONDO:0014977; ORPHA:480682","Xref__c":"OMIM:617232"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=934627","Source__c":"C4310660","Xref__c":"MEDGEN:934627"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4310660","Source__c":"C4310660","Xref__c":"C4310660"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172703004","Source__c":"C4310660","Xref__c":"1172703004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014977","Source__c":"GARD:0017869","Xref__c":"MONDO:0014977"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POGLUT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/poglut1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012548","HPO_Synonym__c":"Skeletal muscle fatty infiltration","HPO_Name__c":"Fatty replacement of skeletal muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of air a person can expel following maximal inspiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032341","HPO_Synonym__c":"Decreased forced vital capacity; Reduced FVC","HPO_Name__c":"Reduced forced vital capacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:617232","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Obstruction of conducting airways of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006536","HPO_Synonym__c":"Obstructive lung disease; Pulmonary obstruction","HPO_Name__c":"Airway obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:617232","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:617232","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006785","HPO_Synonym__c":"limb girdle muscular dystrophy","HPO_Name__c":"Limb-girdle muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617232","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:617232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030877","HPO_Synonym__c":"Obstructive deficit on pulmonary function test; Obstructive deficit on pulmonary function testing","HPO_Name__c":"Reduced FEV1/FVC ratio","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy type 2z"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in poglut1"," autosomal recessive limb-girdle muscular dystrophy type 2z"," lgmd type 2z"," lgmd2z"," lgmdr21"," limb girdle muscular dystrophy type 2z"," limb-girdle muscular dystrophy type 2z"," muscular dystrophy, limb-girdle, autosomal recessive 21"," muscular dystrophy, limb-girdle, type 2z"," poglut1 autosomal recessive limb-girdle muscular dystrophy"," poglut1-related lgmd r21"," poglut1-related limb girdle muscular dystrophy r21"," poglut1-related limb-girdle muscular dystrophy r21"," protein o-glucosyltransferase 1-related limb girdle muscular dystrophy r21"]}