{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2O","DiseaseID__c":"GARD:0012540","id":12540,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2o","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2O","Xref_IDs__c":"C3150417; DOID:0110292; MEDGEN:461767; MONDO:0013161; OMIM:613157; ORPHA:206564","USA_Estimate__c":"1,000","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":"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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013161","Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2O","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2o; autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomgnt1; lgmd type 2o; lgmd-pomgnt1 related; lgmd2o; limb-girdle muscular dystrophy 2o pomgnt1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation; limb-girdle muscular dystrophy 2o pomgnt1 gene mutation; limb-girdle muscular dystrophy type 2o; limb-girdle muscular dystrophy type 3c; mddgc3; muscular dystrophy-dystroglycanopathy (limb-girdle) type c3; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3; muscular dystrophy-dystroglycanopathy limb-girdle pomgnt1-related; muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related; pomgnt1 autosomal recessive limb-girdle muscular dystrophy; pomgnt1-related lgmd r15; pomgnt1-related limb-girdle muscular dystrophy r15","Curated_Disease_Description_Source__c":"MONDO:0013161","Curated_Disease_Description__c":"A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:206564","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013161","ORPHANET_ID__c":"ORPHA:206564","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r15 asociada a pomgnt1","Spanish_Description_Source__c":"ORPHA:206564","Spanish_Description__c":"Es una forma de distrofia muscular de cinturas caracterizada por un inicio en la infancia o adolescencia con debilidad muscular proximal rápidamente progresiva de las extremidades (afectando especialmente a cuello, cintura pélvica y abductores de los hombros), hipertrofia de gemelos y cuádriceps, contracturas de los tobillos y miopía.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r15 asociada a pomgnt1","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2o; lgmd2o","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 form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.","Curated_Disease_Description_Source__c":"MONDO:0013161","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2o; autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomgnt1; lgmd type 2o; lgmd-pomgnt1 related; lgmd2o; limb-girdle muscular dystrophy 2o pomgnt1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation; limb-girdle muscular dystrophy 2o pomgnt1 gene mutation; limb-girdle muscular dystrophy type 2o; limb-girdle muscular dystrophy type 3c; mddgc3; muscular dystrophy-dystroglycanopathy (limb-girdle) type c3; muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3; muscular dystrophy-dystroglycanopathy limb-girdle pomgnt1-related; muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related; pomgnt1 autosomal recessive limb-girdle muscular dystrophy; pomgnt1-related lgmd r15; pomgnt1-related limb-girdle muscular dystrophy r15","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2O","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:206564"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:206564"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3150417"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150417","Source__c":"C3150417","Xref__c":"C3150417"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=461767","Source__c":"C3150417","Xref__c":"MEDGEN:461767"},{"URL__c":"https://www.orpha.net/en/disease/detail/206564","Source__c":"C3150417; MONDO:0013161; ORPHA:206564","Xref__c":"ORPHA:206564"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110292","Source__c":"MONDO:0013161","Xref__c":"DOID:0110292"},{"URL__c":"https://www.omim.org/entry/613157","Source__c":"C3150417; MONDO:0013161; ORPHA:206564","Xref__c":"OMIM:613157"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725043006","Source__c":"C3150417","Xref__c":"725043006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013161","Source__c":"GARD:0012540","Xref__c":"MONDO:0013161"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POMGNT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100297","HPO_Synonym__c":"Endomysial fibrosis","HPO_Name__c":"Increased endomysial connective tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the calf muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008981","HPO_Synonym__c":"Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles","HPO_Name__c":"Calf muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","Feature__r":{"HPO_Description__c":"Abnormal increase in muscle size and mass not due to training.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003712","HPO_Synonym__c":"Hypertrophic muscles; Increased skeletal muscle cells; Muscle hypertrophy; Muscular hypertrophy","HPO_Name__c":"Skeletal muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003557","HPO_Synonym__c":"Increased fiber size variation; Increased variability in muscle fiber size; Increased variation in fiber size; Increased variation in muscle fiber size; Variation in muscle fiber size","HPO_Name__c":"Increased variability in muscle fiber diameter","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003391","HPO_Synonym__c":"Gower sign; Positive Gower sign; Positive Gowers sign","HPO_Name__c":"Gowers sign","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Very frequent (80-99%)","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:613157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","Feature__r":{"HPO_Description__c":"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003560","HPO_Name__c":"Muscular dystrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","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","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy type 2o"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomgnt1"," lgmd type 2o"," lgmd-pomgnt1 related"," lgmd2o"," limb-girdle muscular dystrophy 2o pomgnt1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation"," limb-girdle muscular dystrophy 2o pomgnt1 gene mutation"," limb-girdle muscular dystrophy type 2o"," limb-girdle muscular dystrophy type 3c"," mddgc3"," muscular dystrophy-dystroglycanopathy (limb-girdle) type c3"," muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3"," muscular dystrophy-dystroglycanopathy limb-girdle pomgnt1-related"," muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related"," pomgnt1 autosomal recessive limb-girdle muscular dystrophy"," pomgnt1-related lgmd r15"," pomgnt1-related limb-girdle muscular dystrophy r15"]}