{"Name":"Autosomal dominant limb-girdle muscular dystrophy type 1F","DiseaseID__c":"GARD:0012530","id":12530,"encodedName":"autosomal-dominant-limb-girdle-muscular-dystrophy-type-1f","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant limb-girdle muscular dystrophy type 1F","Xref_IDs__c":"719989007; C1842062; C564242; DOID:0110304; MEDGEN:333983; MONDO:0012034; OMIM:608423; ORPHA:55595","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0012034","Disease_Description__c":"A rare subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.","GARD_Name__c":"Autosomal dominant limb-girdle muscular dystrophy type 1F","GARD_Synonym__c":"autosomal dominant limb girdle muscular dystrophy type 1f; lgmd type 1f; lgmd1f; lgmdd2; limb-girdle muscular dystrophy type 1f; limb-girdle muscular dystrophy, type 1f; muscular dystrophy limb-girdle type 1f; muscular dystrophy, limb-girdle, autosomal dominant 2; tnp03-related limb-girdle muscular dystrophy d2","Curated_Disease_Description_Source__c":"MONDO:0012034","Curated_Disease_Description__c":"A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not 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:55595","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012034","ORPHANET_ID__c":"ORPHA:55595","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia muscular de cinturas d2 asociada a tnp03","Spanish_Description_Source__c":"ORPHA:55595","Spanish_Description__c":"Es un subtipo de distrofia muscular de cinturas autosómica dominante con una edad de inicio variable, caracterizado por debilidad proximal progresiva y atrofia de la musculatura pélvica y escapular (estando más afectada la cintura pélvica y especialmente el músculo iliopsoas) y asociación frecuente de hipertrofia gemelar, disfagia, aracnodactilia con o sin contracturas en los dedos y/o afectación de la musculatura distal y axial. Otros rasgos adicionales incluyen una marcha anormal, intolerancia al ejercicio, mialgias, fatiga e insuficiencia respiratoria. Por lo general, no se observan defectos de la conducción cardiaca.","Spanish_Disease_Name__c":"distrofia muscular de cinturas d2 asociada a tnp03","Spanish_GARD_Synonym__c":"distrofia muscular de cinturas autosómica dominante tipo 1f; lgmd1f","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 subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.","Curated_Disease_Description_Source__c":"MONDO:0012034","GARD_Synonym__c":"autosomal dominant limb girdle muscular dystrophy type 1f; lgmd type 1f; lgmd1f; lgmdd2; limb-girdle muscular dystrophy type 1f; limb-girdle muscular dystrophy, type 1f; muscular dystrophy limb-girdle type 1f; muscular dystrophy, limb-girdle, autosomal dominant 2; tnp03-related limb-girdle muscular dystrophy d2","Name":"Autosomal dominant limb-girdle muscular dystrophy type 1F","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":"Adolescent","Provided_By__c":"ORPHA:55595"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:55595"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:55595"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:55595"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719989007","Source__c":"C1842062; MONDO:0012034","Xref__c":"719989007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110304","Source__c":"MONDO:0012034","Xref__c":"DOID:0110304"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564242","Source__c":"MONDO:0012034","Xref__c":"C564242"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842062","Source__c":"C1842062","Xref__c":"C1842062"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333983","Source__c":"C1842062","Xref__c":"MEDGEN:333983"},{"URL__c":"https://www.omim.org/entry/608423","Source__c":"C1842062; MONDO:0012034; ORPHA:55595","Xref__c":"OMIM:608423"},{"URL__c":"https://www.orpha.net/en/disease/detail/55595","Source__c":"C1842062; MONDO:0012034; ORPHA:55595","Xref__c":"ORPHA:55595"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012034","Source__c":"GARD:0012530","Xref__c":"MONDO:0012034"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNPO3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608423","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation above the normal range of creatine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034291","HPO_Name__c":"Elevated circulating creatine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608423","HPO_Frequency__c":"Very frequent (80-99%)","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:608423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031936","HPO_Synonym__c":"Delayed walking","HPO_Name__c":"Delayed ability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608423","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:608423","HPO_Frequency__c":"Occasional (5-29%)","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:608423","HPO_Frequency__c":"Very frequent (80-99%)","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:608423","HPO_Frequency__c":"Very frequent (80-99%)","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:608423","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:608423","HPO_Frequency__c":"Occasional (5-29%)","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:608423","Feature__r":{"HPO_Description__c":"The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003736","HPO_Name__c":"Autophagic vacuoles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608423","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:608423","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:608423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608423","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:608423","Feature__r":{"HPO_Description__c":"Abnormal protrusion of the scapula away from the surface of the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003691","HPO_Synonym__c":"Scapula alata; Winged scapulae; Winged scapulas; Winged shoulder blade","HPO_Name__c":"Scapular winging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608423","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:608423","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":"OMIM:608423","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:608423","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608423","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}}],"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 1f"," lgmd type 1f"," lgmd1f"," lgmdd2"," limb-girdle muscular dystrophy type 1f"," limb-girdle muscular dystrophy, type 1f"," muscular dystrophy limb-girdle type 1f"," muscular dystrophy, limb-girdle, autosomal dominant 2"," tnp03-related limb-girdle muscular dystrophy d2"]}