{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2G","DiseaseID__c":"GARD:0010471","id":10471,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2g","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2G","Xref_IDs__c":"720522001; C1866008; C566599; DOID:0110281; MEDGEN:400895; MONDO:0011170; OMIM:601954; ORPHA:34514","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":3,"Description_Source__c":"MONDO:0011170","Disease_Description__c":"A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2G","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2g; autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap; lgmd due to telethonin deficiency; lgmd type 2g; lgmd2g; lgmdr7; limb girdle muscular dystrophy due to telethonin deficiency; limb-girdle muscular dystrophy due to telethonin deficiency; limb-girdle muscular dystrophy type 2g; limb-girdle muscular dystrophy, type 2g; muscular dystrophy, limb-girdle, autosomal recessive 7; muscular dystrophy, limb-girdle, type 2g; tcap autosomal recessive limb-girdle muscular dystrophy; telethonin-related lgmd r7; telethonin-related limb-girdle muscular dystrophy r7; telethoninopathy","Curated_Disease_Description_Source__c":"MONDO:0011170","Curated_Disease_Description__c":"A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:34514","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011170","ORPHANET_ID__c":"ORPHA:34514","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas r7 asociada a teletonina","Spanish_Description_Source__c":"ORPHA:34514","Spanish_Description__c":"Es un subtipo leve de distrofia muscular de cinturas autosómica recesiva caracterizado por una edad variable de inicio (entre la infancia y la adolescencia) de debilidad muscular proximal progresiva de las extremidades superiores e inferiores y atrofia. Se observa también escapula alada leve, hipertrofia gemelar, y ausencia de afectación cardiorrespiratoria.","Spanish_Disease_Name__c":"distrofia muscular de cinturas r7 asociada a teletonina","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica recesiva tipo 2g; distrofia muscular de cinturas por deficiencia de teletonina; lgmd2g","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 mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.","Curated_Disease_Description_Source__c":"MONDO:0011170","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2g; autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap; lgmd due to telethonin deficiency; lgmd type 2g; lgmd2g; lgmdr7; limb girdle muscular dystrophy due to telethonin deficiency; limb-girdle muscular dystrophy due to telethonin deficiency; limb-girdle muscular dystrophy type 2g; limb-girdle muscular dystrophy, type 2g; muscular dystrophy, limb-girdle, autosomal recessive 7; muscular dystrophy, limb-girdle, type 2g; tcap autosomal recessive limb-girdle muscular dystrophy; telethonin-related lgmd r7; telethonin-related limb-girdle muscular dystrophy r7; telethoninopathy","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2G","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":"Cure Rare Disease","Website__c":"https://www.cureraredisease.org"},{"Account_Name__c":"Muscular Dystrophy Family Foundation","Website__c":"https://mdff.org/"},{"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":"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:34514"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:34514"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:34514"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010471","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/601954","Source__c":"C1866008; MONDO:0011170; ORPHA:34514","Xref__c":"OMIM:601954"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566599","Source__c":"MONDO:0011170","Xref__c":"C566599"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400895","Source__c":"C1866008","Xref__c":"MEDGEN:400895"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720522001","Source__c":"C1866008; MONDO:0011170","Xref__c":"720522001"},{"URL__c":"https://www.orpha.net/en/disease/detail/34514","Source__c":"C1866008; MONDO:0011170; ORPHA:34514","Xref__c":"ORPHA:34514"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866008","Source__c":"C1866008","Xref__c":"C1866008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110281","Source__c":"MONDO:0011170","Xref__c":"DOID:0110281"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011170","Source__c":"GARD:0010471","Xref__c":"MONDO:0011170"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TCAP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601954","Feature__r":{"HPO_Description__c":"Inability to elicit tendon reflexes in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002522","HPO_Synonym__c":"Absent lower limb tendon reflexes; Areflexia in lower limbs; Areflexia of the lower limbs; Areflexia, lower limbs","HPO_Name__c":"Areflexia of lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","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:601954","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting proximally located muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008948","HPO_Synonym__c":"Proximal muscle atrophy in upper limbs; Proximal upper limb muscle atrophy","HPO_Name__c":"Proximal upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","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":"OMIM:601954","Feature__r":{"HPO_Description__c":"The presence of an abnormally increased amount of connective tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009025","HPO_Name__c":"Increased connective tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","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:601954","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:601954","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","Feature__r":{"HPO_Description__c":"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003805","HPO_Synonym__c":"Rimmed vacuoles on biopsy","HPO_Name__c":"Rimmed vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601954","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:601954","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:601954","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal recessive limb girdle muscular dystrophy type 2g"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap"," lgmd due to telethonin deficiency"," lgmd type 2g"," lgmd2g"," lgmdr7"," limb girdle muscular dystrophy due to telethonin deficiency"," limb-girdle muscular dystrophy due to telethonin deficiency"," limb-girdle muscular dystrophy type 2g"," limb-girdle muscular dystrophy, type 2g"," muscular dystrophy, limb-girdle, autosomal recessive 7"," muscular dystrophy, limb-girdle, type 2g"," tcap autosomal recessive limb-girdle muscular dystrophy"," telethonin-related lgmd r7"," telethonin-related limb-girdle muscular dystrophy r7"," telethoninopathy"]}