{"Name":"Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)","DiseaseID__c":"GARD:0012528","id":12528,"encodedName":"autosomal-dominant-limb-girdle-muscular-dystrophy-type-1d-dnajb6","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)","Xref_IDs__c":"C4721885; C566370; DOID:0110305; MEDGEN:1648441; MONDO:0021018; OMIM:603511; ORPHA:34516","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0021018","Disease_Description__c":"A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.","GARD_Name__c":"Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)","GARD_Synonym__c":"autosomal dominant limb-girdle muscular dystrophy caused by mutation in dnajb6; autosomal dominant limb-girdle muscular dystrophy type 1d; dnajb6 autosomal dominant limb-girdle muscular dystrophy; dnajb6-related lgmd d1; dnajb6-related limb-girdle muscular dystrophy d1; lgmd type 1d; lgmd1d; lgmd1d (dnajb6); lgmdd1; limb-girdle muscular dystrophy type 1d; muscular dystrophy, autosomal dominant, with rimmed vacuoles; muscular dystrophy, limb-girdle, autosomal dominant 1; muscular dystrophy, limb-girdle, type 1d","Curated_Disease_Description_Source__c":"MONDO:0021018","Curated_Disease_Description__c":"A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:34516","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0021018","ORPHANET_ID__c":"ORPHA:34516","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas d1 asociada a dnajb6","Spanish_Description_Source__c":"ORPHA:34516","Spanish_Description__c":"Es un subtipo de distrofia muscular de cinturas autosómica dominante de inicio en la edad adulta caracterizado por debilidad proximal de la cintura pélvica de progresión lenta, con ausencia o afectación mínima de la cintura escapular, y ausencia de síntomas cardiorrespiratorios. A menudo se observan niveles de leve a moderadamente elevados de la creatina quinasa sérica y anomalías de la marcha.","Spanish_Disease_Name__c":"distrofia muscular de cinturas d1 asociada a dnajb6","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica dominante tipo 1d; lgmd1d","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 subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.","Curated_Disease_Description_Source__c":"MONDO:0021018","GARD_Synonym__c":"autosomal dominant limb-girdle muscular dystrophy caused by mutation in dnajb6; autosomal dominant limb-girdle muscular dystrophy type 1d; dnajb6 autosomal dominant limb-girdle muscular dystrophy; dnajb6-related lgmd d1; dnajb6-related limb-girdle muscular dystrophy d1; lgmd type 1d; lgmd1d; lgmd1d (dnajb6); lgmdd1; limb-girdle muscular dystrophy type 1d; muscular dystrophy, autosomal dominant, with rimmed vacuoles; muscular dystrophy, limb-girdle, autosomal dominant 1; muscular dystrophy, limb-girdle, type 1d","Name":"Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:34516"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1648441","Source__c":"C4721885","Xref__c":"MEDGEN:1648441"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4721885","Source__c":"C4721885","Xref__c":"C4721885"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110305","Source__c":"MONDO:0021018","Xref__c":"DOID:0110305"},{"URL__c":"https://www.orpha.net/en/disease/detail/34516","Source__c":"C4721885; MONDO:0021018","Xref__c":"ORPHA:34516"},{"URL__c":"https://www.omim.org/entry/603511","Source__c":"C4721885; MONDO:0021018; ORPHA:34516","Xref__c":"OMIM:603511"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566370","Source__c":"MONDO:0021018","Xref__c":"C566370"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0021018","Source__c":"GARD:0012528","Xref__c":"MONDO:0021018"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNAJB6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:34516","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:34516","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010548","HPO_Synonym__c":"Transient swelling of muscle induced by percussion","HPO_Name__c":"Percussion myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34516","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:34516","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003715","HPO_Synonym__c":"Myofibrillar changes","HPO_Name__c":"Myofibrillar myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34516","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:34516","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:34516","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34516","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive formation of fibrous bands of scar tissue in between muscle fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030951","HPO_Synonym__c":"Muscle biopsy: fibrosis","HPO_Name__c":"Skeletal muscle fibrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34516","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004303","HPO_Synonym__c":"Abnormal skeletal muscle fiber morphology; Abnormality of muscle fibers","HPO_Name__c":"Abnormal muscle fiber morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:34516","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Muscular Dystrophy"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Muscular Dystrophy"]},"synonyms":["autosomal dominant limb-girdle muscular dystrophy caused by mutation in dnajb6"," autosomal dominant limb-girdle muscular dystrophy type 1d"," dnajb6 autosomal dominant limb-girdle muscular dystrophy"," dnajb6-related lgmd d1"," dnajb6-related limb-girdle muscular dystrophy d1"," lgmd type 1d"," lgmd1d"," lgmd1d (dnajb6)"," lgmdd1"," limb-girdle muscular dystrophy type 1d"," muscular dystrophy, autosomal dominant, with rimmed vacuoles"," muscular dystrophy, limb-girdle, autosomal dominant 1"," muscular dystrophy, limb-girdle, type 1d"]}