{"Name":"Nemaline myopathy 5","DiseaseID__c":"GARD:0008334","id":8334,"encodedName":"nemaline-myopathy-5","IsDeleted":false,"Disease_Name_Full__c":"Nemaline myopathy 5","Xref_IDs__c":"C1854380; C538397; DOID:0110936; MEDGEN:344273; MONDO:0011539; OMIM:605355; ORPHA:98902","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":1,"Description_Source__c":"MONDO:0011539","Disease_Description__c":"A type of nemaline myopathy (NM) only observed in several families of the Amish community.","GARD_Name__c":"Nemaline myopathy 5","GARD_Synonym__c":"amish nemaline myopathy; anm; nem5; nem5a; nemaline myopathy 5, amish type; nemaline myopathy 5a, autosomal recessive, severe infantile; nemaline myopathy caused by mutation in tnnt1; nemaline myopathy type 5; nemaline myopathy, amish type; tnnt1 nemaline myopathy","Curated_Disease_Description_Source__c":"MONDO:0011539","Curated_Disease_Description__c":"A type of nemaline myopathy (NM) only observed in several families of the Amish community.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:98902","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011539","ORPHANET_ID__c":"ORPHA:98902","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía nemalínica tipo amish","Spanish_Description_Source__c":"ORPHA:98902","Spanish_Description__c":"Es un tipo de miopatía nemalítica (MN) tan solo observada en varias familias de la comunidad Amish.","Spanish_Disease_Name__c":"miopatía nemalínica tipo amish","Spanish_GARD_Synonym__c":null,"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 type of nemaline myopathy (NM) only observed in several families of the Amish community.","Curated_Disease_Description_Source__c":"MONDO:0011539","GARD_Synonym__c":"amish nemaline myopathy; anm; nem5; nem5a; nemaline myopathy 5, amish type; nemaline myopathy 5a, autosomal recessive, severe infantile; nemaline myopathy caused by mutation in tnnt1; nemaline myopathy type 5; nemaline myopathy, amish type; tnnt1 nemaline myopathy","Name":"Nemaline myopathy 5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"A Foundation Building Strength","Website__c":"https://buildingstrength.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":"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":"Neonatal","Provided_By__c":"ORPHA:98902"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1854380"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008334","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/605355","Source__c":"C1854380; MONDO:0011539; ORPHA:98902","Xref__c":"OMIM:605355"},{"URL__c":"https://www.orpha.net/en/disease/detail/98902","Source__c":"C1854380; MONDO:0011539; ORPHA:98902","Xref__c":"ORPHA:98902"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538397","Source__c":"MONDO:0011539","Xref__c":"C538397"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344273","Source__c":"C1854380","Xref__c":"MEDGEN:344273"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110936","Source__c":"MONDO:0011539","Xref__c":"DOID:0110936"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1854380","Source__c":"C1854380","Xref__c":"C1854380"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011539","Source__c":"GARD:0008334","Xref__c":"MONDO:0011539"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197155007","Source__c":"C1854380","Xref__c":"1197155007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNNT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003803","HPO_Synonym__c":"Type I muscle fiber predominance","HPO_Name__c":"Type 1 muscle fiber predominance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003044","HPO_Name__c":"Shoulder flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003273","HPO_Synonym__c":"Flexion contracture of hips; Flexion contractures of hips; Hip contractures; Hip flexion contractures","HPO_Name__c":"Hip contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:98902","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":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003323","HPO_Synonym__c":"Muscle weakness, progressive; Progressive muscular weakness","HPO_Name__c":"Progressive muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98902","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Amyotrophy (muscular atrophy) affecting the proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007126","HPO_Synonym__c":"Muscle atrophy, proximal; Proximal muscle atrophy; Proximal muscle wasting; Symmetric proximal muscular atrophy; Symmetrical, proximal limb muscle atrophy; Wasting of muscles near the body","HPO_Name__c":"Proximal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["amish nemaline myopathy"," anm"," nem5"," nem5a"," nemaline myopathy 5, amish type"," nemaline myopathy 5a, autosomal recessive, severe infantile"," nemaline myopathy caused by mutation in tnnt1"," nemaline myopathy type 5"," nemaline myopathy, amish type"," tnnt1 nemaline myopathy"]}