{"Name":"Autosomal dominant limb-girdle muscular dystrophy type 1G","DiseaseID__c":"GARD:0012531","id":12531,"encodedName":"autosomal-dominant-limb-girdle-muscular-dystrophy-type-1g","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant limb-girdle muscular dystrophy type 1G","Xref_IDs__c":"719990003; C1836765; C563794; DOID:0110306; MEDGEN:322993; MONDO:0012193; OMIM:609115; ORPHA:55596","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:0012193","Disease_Description__c":"A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.","GARD_Name__c":"Autosomal dominant limb-girdle muscular dystrophy type 1G","GARD_Synonym__c":"autosomal dominant limb girdle muscular dystrophy type 1g; autosomal dominant limb-girdle muscular dystrophy caused by mutation in hnrnpdl; hnrnpdl autosomal dominant limb-girdle muscular dystrophy; hnrnpdl-related lgmd d3; hnrnpdl-related limb-girdle muscular dystrophy d3; lgmd type 1g; lgmd1g; lgmdd3; limb-girdle muscular dystrophy type 1g; limb-girdle muscular dystrophy, type 1g; muscular dystrophy limb-girdle type 1g; muscular dystrophy, limb-girdle, autosomal dominant 3","Curated_Disease_Description_Source__c":"MONDO:0012193","Curated_Disease_Description__c":"A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:55596","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012193","ORPHANET_ID__c":"ORPHA:55596","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas d3 asociada a hnrnpdl","Spanish_Description_Source__c":"ORPHA:55596","Spanish_Description__c":"Es un subtipo leve de distrofia muscular de cinturas autosómica dominante de inicio, por lo habitual, en la edad adulta caracterizado por debilidad proximal progresiva de los músculos de la cintura pélvica y escapular y limitación progresiva y permanente de la flexión de dedos de las manos y pies sin contracturas en flexión. Se observan niveles de normales a muy elevados de creatinquinasa sérica.","Spanish_Disease_Name__c":"distrofia muscular de cinturas d3 asociada a hnrnpdl","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica dominante tipo 1g; lgmd1g","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, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.","Curated_Disease_Description_Source__c":"MONDO:0012193","GARD_Synonym__c":"autosomal dominant limb girdle muscular dystrophy type 1g; autosomal dominant limb-girdle muscular dystrophy caused by mutation in hnrnpdl; hnrnpdl autosomal dominant limb-girdle muscular dystrophy; hnrnpdl-related lgmd d3; hnrnpdl-related limb-girdle muscular dystrophy d3; lgmd type 1g; lgmd1g; lgmdd3; limb-girdle muscular dystrophy type 1g; limb-girdle muscular dystrophy, type 1g; muscular dystrophy limb-girdle type 1g; muscular dystrophy, limb-girdle, autosomal dominant 3","Name":"Autosomal dominant limb-girdle muscular dystrophy type 1G","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":"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":"Adult","Provided_By__c":"ORPHA:55596"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:55596"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=322993","Source__c":"C1836765","Xref__c":"MEDGEN:322993"},{"URL__c":"https://www.orpha.net/en/disease/detail/55596","Source__c":"C1836765; MONDO:0012193; ORPHA:55596","Xref__c":"ORPHA:55596"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719990003","Source__c":"C1836765; MONDO:0012193","Xref__c":"719990003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110306","Source__c":"MONDO:0012193","Xref__c":"DOID:0110306"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836765","Source__c":"C1836765","Xref__c":"C1836765"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563794","Source__c":"MONDO:0012193","Xref__c":"C563794"},{"URL__c":"https://www.omim.org/entry/609115","Source__c":"C1836765; MONDO:0012193; ORPHA:55596","Xref__c":"OMIM:609115"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012193","Source__c":"GARD:0012531","Xref__c":"MONDO:0012193"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HNRNPDL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609115","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:609115","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:609115","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:609115","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609115","Feature__r":{"HPO_Description__c":"Limitation of the ability to bend the toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008116","HPO_Name__c":"Flexion limitation of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609115","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:609115","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609115","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008956","HPO_Synonym__c":"Amyotrophy involving the thigh; Amyotrophy of the thigh musculature; Proximal lower limb muscle atrophy; Thigh muscle atrophy; Wasting of thigh muscle","HPO_Name__c":"Proximal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609115","Feature__r":{"HPO_Description__c":"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003547","HPO_Synonym__c":"Muscle weakness, shoulder-girdle; Shoulder girdle weakness; Shoulder weakness; Weak shoulder muscles","HPO_Name__c":"Shoulder girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609115","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609115","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003749","HPO_Synonym__c":"Hip girdle muscle weakness; Hip girdle weakness; Hip-girdle muscle weakness; Pelvic girdle weakness","HPO_Name__c":"Pelvic girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609115","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006203","HPO_Synonym__c":"Decreased range of movement range in hinge joints","HPO_Name__c":"Decreased movement range in interphalangeal joints","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 dominant limb girdle muscular dystrophy type 1g"," autosomal dominant limb-girdle muscular dystrophy caused by mutation in hnrnpdl"," hnrnpdl autosomal dominant limb-girdle muscular dystrophy"," hnrnpdl-related lgmd d3"," hnrnpdl-related limb-girdle muscular dystrophy d3"," lgmd type 1g"," lgmd1g"," lgmdd3"," limb-girdle muscular dystrophy type 1g"," limb-girdle muscular dystrophy, type 1g"," muscular dystrophy limb-girdle type 1g"," muscular dystrophy, limb-girdle, autosomal dominant 3"]}