{"Name":"Autosomal recessive limb-girdle muscular dystrophy type 2Y","DiseaseID__c":"GARD:0017708","id":17708,"encodedName":"autosomal-recessive-limb-girdle-muscular-dystrophy-type-2y","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive limb-girdle muscular dystrophy type 2Y","Xref_IDs__c":"725907002; C181000; C4511482; DOID:0110289; MEDGEN:1385152; MONDO:0014900; OMIM:617072; ORPHA:424261","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014900","Disease_Description__c":"A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.","GARD_Name__c":"Autosomal recessive limb-girdle muscular dystrophy type 2Y","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2y; autosomal recessive limb-girdle muscular dystrophy caused by mutation in tor1aip1; autosomal recessive muscular dystrophy due to lap1b (lamin-associated protein 1b) deficiency; autosomal recessive muscular dystrophy due to lap1b deficiency; autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency; lgmd type 2y; lgmd2y; mrrsdc; muscular dystrophy with progressive weakness, distal contracture and rigid spine; muscular dystrophy with progressive weakness, distal contractures and rigid spine; muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures; muscular dystrophy, limb-girdle, type 2y; tor1aip1 autosomal recessive limb-girdle muscular dystrophy; tor1aip1-related lgmd; tor1aip1-related limb-girdle muscular dystrophy","Curated_Disease_Description_Source__c":"MONDO:0014900","Curated_Disease_Description__c":"A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.","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:424261","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014900","ORPHANET_ID__c":"ORPHA:424261","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas autosómica recesiva tipo 2y","Spanish_Description_Source__c":"ORPHA:424261","Spanish_Description__c":"Es una forma de distrofia muscular de cinturas que se presenta en la primera o segunda década de vida caracterizada por debilidad muscular y atrofia distal y proximal lentamente progresivas. Otras manifestaciones adicionales incluyen contracturas de las articulaciones interfalángicas proximales y distales de las manos, columna vertebral rígida, restricción de la función pulmonar y leve miocardiopatía.","Spanish_Disease_Name__c":"distrofia muscular de cinturas autosómica recesiva tipo 2y","Spanish_GARD_Synonym__c":"distrofia muscular autosómica recesiva por deficiencia de la proteína 1 de interacción torsina-1a; distrofia muscular autosómica recesiva por deficiencia de lap1b; distrofia muscular con debilidad progresiva, contracturas distales y columna vertebral rígida; lgmd2y","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, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.","Curated_Disease_Description_Source__c":"MONDO:0014900","GARD_Synonym__c":"autosomal recessive limb girdle muscular dystrophy type 2y; autosomal recessive limb-girdle muscular dystrophy caused by mutation in tor1aip1; autosomal recessive muscular dystrophy due to lap1b (lamin-associated protein 1b) deficiency; autosomal recessive muscular dystrophy due to lap1b deficiency; autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency; lgmd type 2y; lgmd2y; mrrsdc; muscular dystrophy with progressive weakness, distal contracture and rigid spine; muscular dystrophy with progressive weakness, distal contractures and rigid spine; muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures; muscular dystrophy, limb-girdle, type 2y; tor1aip1 autosomal recessive limb-girdle muscular dystrophy; tor1aip1-related lgmd; tor1aip1-related limb-girdle muscular dystrophy","Name":"Autosomal recessive limb-girdle muscular dystrophy type 2Y","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":"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:424261"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:424261"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511482","Source__c":"C4511482","Xref__c":"C4511482"},{"URL__c":"https://www.omim.org/entry/617072","Source__c":"C4511482; MONDO:0014900; ORPHA:424261","Xref__c":"OMIM:617072"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725907002","Source__c":"C4511482; MONDO:0014900","Xref__c":"725907002"},{"URL__c":"https://www.orpha.net/en/disease/detail/424261","Source__c":"C4511482; MONDO:0014900; ORPHA:424261","Xref__c":"ORPHA:424261"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C181000","Source__c":"C4511482; MONDO:0014900","Xref__c":"C181000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110289","Source__c":"MONDO:0014900","Xref__c":"DOID:0110289"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1385152","Source__c":"C4511482","Xref__c":"MEDGEN:1385152"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014900","Source__c":"GARD:0017708","Xref__c":"MONDO:0014900"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TOR1AIP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007181","HPO_Synonym__c":"Interosseous muscular atrophy","HPO_Name__c":"Interosseus muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034392","HPO_Synonym__c":"Contracture","HPO_Name__c":"Joint contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Frequent (30-79%)","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:617072","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032359","HPO_Synonym__c":"Decreased FEF25-75%","HPO_Name__c":"Decreased forced expiratory flow 25-75%","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"OMIM:617072","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:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006466","HPO_Name__c":"Ankle flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009697","HPO_Name__c":"Contracture of the distal interphalangeal joint of the fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003687","HPO_Synonym__c":"Central nuclei; Centralized nuclei; Centralized sarcomeric nuclei","HPO_Name__c":"Centrally nucleated skeletal muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","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:617072","HPO_Frequency__c":"Frequent (30-79%)","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:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006682","HPO_Synonym__c":"Extra heart beat; Premature ventricular beat; Premature ventricular contractions; Ventricular ectopics; Ventricular extrasystoles; Ventricular premature beat","HPO_Name__c":"Premature ventricular contraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003306","HPO_Synonym__c":"Reduced spine movement; Rigid spine","HPO_Name__c":"Spinal rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617072","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:617072","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","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 2y"," autosomal recessive limb-girdle muscular dystrophy caused by mutation in tor1aip1"," autosomal recessive muscular dystrophy due to lap1b (lamin-associated protein 1b) deficiency"," autosomal recessive muscular dystrophy due to lap1b deficiency"," autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency"," lgmd type 2y"," lgmd2y"," mrrsdc"," muscular dystrophy with progressive weakness, distal contracture and rigid spine"," muscular dystrophy with progressive weakness, distal contractures and rigid spine"," muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"," muscular dystrophy, limb-girdle, type 2y"," tor1aip1 autosomal recessive limb-girdle muscular dystrophy"," tor1aip1-related lgmd"," tor1aip1-related limb-girdle muscular dystrophy"]}