{"Name":"ATTRV30M amyloidosis","DiseaseID__c":"GARD:0016754","id":16754,"encodedName":"attrv30m-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"ATTRV30M amyloidosis","Xref_IDs__c":"C0268384; MEDGEN:78669; MONDO:0100552","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100552","Disease_Description__c":"A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.","GARD_Name__c":"ATTRV30M amyloidosis","GARD_Synonym__c":"amyloid polyneuropathy type i; amyloidosis, type i; andrade syndrome; andrade type amyloid polyneuropathy; attrv30m-related amyloidosis; corino de andrade paramyloidosis; familial amyloid neuropathy, andrade type; familial amyloid neuropathy, portuguese type; familial amyloid polyneuropathy, 30 met-for-val; hereditary amyloid polyneuropathy portuguese type; hereditary attrv30m-related amyloidosis; hereditary neuropathic amyloidosis, type i; japanese type amyloid polyneuropathy; portuguese polyneuritic amyloidosis; portuguese type amyloid polyneuropathy; swedish type amyloid polyneuropathy; wohlwill-corino andrade syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"ATTRV30M amyloidosis is a progressive sensorimotor and autonomic neuropathy. This means it affects the nerves responsible for movement and sensation. It also affects the autonomic nervous system. The autonomic nervous system controls involuntary functions like heart rate and digestion. ATTRV30M typically starts in adulthood and gets more severe over time. It often leads to weight loss and heart problems and may also cause issues with the eyes or kidneys.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:85447","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100552","ORPHANET_ID__c":"ORPHA:85447","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:85447","Spanish_Description__c":"Es una forma hereditaria poco frecuente de amiloidosis ATTR (ATTRh) caracterizada por una polineuropatía axonal sensitivomotora progresiva y dependiente de la longitud y/o neuropatía autonómica en la edad adulta. También es frecuente la afectación renal, ocular y cardíaca. Se han descrito dos fenotipos diferentes asociados a esta mutación: el V30M de inicio precoz y el V30M de inicio tardío, que difieren en cuanto a la edad de inicio (<50 años o >50 años, respectivamente), características de presentación, hallazgos histopatológicos, tasa de progresión de la enfermedad y respuesta terapéutica.","Spanish_Disease_Name__c":null,"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":"ATTRV30M amyloidosis is a progressive sensorimotor and autonomic neuropathy. This means it affects the nerves responsible for movement and sensation. It also affects the autonomic nervous system. The autonomic nervous system controls involuntary functions like heart rate and digestion. ATTRV30M typically starts in adulthood and gets more severe over time. It often leads to weight loss and heart problems and may also cause issues with the eyes or kidneys.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"amyloid polyneuropathy type i; amyloidosis, type i; andrade syndrome; andrade type amyloid polyneuropathy; attrv30m-related amyloidosis; corino de andrade paramyloidosis; familial amyloid neuropathy, andrade type; familial amyloid neuropathy, portuguese type; familial amyloid polyneuropathy, 30 met-for-val; hereditary amyloid polyneuropathy portuguese type; hereditary attrv30m-related amyloidosis; hereditary neuropathic amyloidosis, type i; japanese type amyloid polyneuropathy; portuguese polyneuritic amyloidosis; portuguese type amyloid polyneuropathy; swedish type amyloid polyneuropathy; wohlwill-corino andrade syndrome","Name":"ATTRV30M amyloidosis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Amyloidosis Research Consortium","Website__c":"https://www.arci.org/"},{"Account_Name__c":"Amyloidosis Support Groups Inc.","Website__c":"https://www.amyloidosissupport.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Amyloidosis Foundation","Website__c":"https://www.amyloidosis.org/"},{"Account_Name__c":"Hypertrophic Cardiomyopathy Association","Website__c":"https://www.4hcm.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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1194","Source__c":"Gene Review","Xref__c":"NBK1194"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78669","Source__c":"C0268384","Xref__c":"MEDGEN:78669"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268384","Source__c":"C0268384","Xref__c":"C0268384"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=398229007","Source__c":"C0268384","Xref__c":"398229007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100552","Source__c":"GARD:0016754","Xref__c":"MONDO:0100552"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Cardiology","Neurology","Ophthalmology","Rheumatology","Retinal","Neuromuscular medicine"],"Account":["Retinal","Peripheral Neuropathy","Cardiomyopathy"]},"synonyms":["amyloid polyneuropathy type i"," amyloidosis, type i"," andrade syndrome"," andrade type amyloid polyneuropathy"," attrv30m-related amyloidosis"," corino de andrade paramyloidosis"," familial amyloid neuropathy, andrade type"," familial amyloid neuropathy, portuguese type"," familial amyloid polyneuropathy, 30 met-for-val"," hereditary amyloid polyneuropathy portuguese type"," hereditary attrv30m-related amyloidosis"," hereditary neuropathic amyloidosis, type i"," japanese type amyloid polyneuropathy"," portuguese polyneuritic amyloidosis"," portuguese type amyloid polyneuropathy"," swedish type amyloid polyneuropathy"," wohlwill-corino andrade syndrome"]}