{"Name":"Hereditary sensorimotor neuropathy with hyperelastic skin","DiseaseID__c":"GARD:0011010","id":11010,"encodedName":"hereditary-sensorimotor-neuropathy-with-hyperelastic-skin","IsDeleted":false,"Disease_Name_Full__c":"Hereditary sensorimotor neuropathy with hyperelastic skin","Xref_IDs__c":"782881002; C5190690; MEDGEN:1678654; MONDO:0017237; ORPHA:280598","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":"ORPHA:280598","Disease_Description__c":"Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.","GARD_Name__c":"Hereditary sensorimotor neuropathy with hyperelastic skin","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:280598","Curated_Disease_Description__c":"A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterised by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:280598","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017237","ORPHANET_ID__c":"ORPHA:280598","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitivo-motora hereditaria con piel hiperelástica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neuropatía sensitivo-motora hereditaria con piel hiperelástica","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 rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterised by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.","Curated_Disease_Description_Source__c":"ORPHA:280598","Name":"Hereditary sensorimotor neuropathy with hyperelastic skin","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Foundation for Peripheral Neuropathy","Website__c":"https://www.foundationforpn.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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"All ages","Provided_By__c":"ORPHA:280598"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0011010","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/280598","Source__c":"C5190690; MONDO:0017237; ORPHA:280598","Xref__c":"ORPHA:280598"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190690","Source__c":"C5190690","Xref__c":"C5190690"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1678654","Source__c":"C5190690","Xref__c":"MEDGEN:1678654"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782881002","Source__c":"C5190690","Xref__c":"782881002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017237","Source__c":"GARD:0011010","Xref__c":"MONDO:0017237"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FBLN5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fbln5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":[""]}