{"Name":"Biotin-responsive basal ganglia disease","DiseaseID__c":"GARD:0010237","id":10237,"encodedName":"biotin-responsive-basal-ganglia-disease","IsDeleted":false,"Disease_Name_Full__c":"Biotin-responsive basal ganglia disease","Xref_IDs__c":"703522009; 723557004; C1843807; C212885; C537658; DOID:0050659; MEDGEN:375289; MONDO:0011841; ORPHA:65284","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"GARD:0010237","Disease_Description__c":"Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Biotin-thiamine-responsive basal ganglia disease is caused by changes in the SLC19A3 gene and is inherited in an autosomal recessive manner.","GARD_Name__c":"Biotin-responsive basal ganglia disease","GARD_Synonym__c":"bbgd; biotin-thiamine-responsive basal ganglia disease; btbgd; encephalopathy, thiamine-responsive; thiamine metabolism dysfunction syndrome 2; thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type); thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2); thiamine metabolism dysfunction syndrome type 2; thiamine transporter-2 deficiency; thiamine-responsive encephalopathy; thmd2","Curated_Disease_Description_Source__c":"GARD:0010237","Curated_Disease_Description__c":"Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family. The signs and symptoms of biotin-thiamine-responsive basal ganglia disease usually begin between the ages of 3 and 10, but the disorder can appear at any age. Many of the neurological problems that can occur in biotin-thiamine-responsive basal ganglia disease affect movement, and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia). Movement problems can also affect the face, and may include the inability to move facial muscles due to facial nerve paralysis (supranuclear facial palsy), paralysis of the eye muscles (external ophthalmoplegia), difficulty chewing or swallowing (dysphagia), and slurred speech. Affected individuals may also experience confusion, loss of previously learned skills, intellectual disability, and seizures. Severe cases may result in coma and become life-threatening. Typically, the neurological symptoms occur as increasingly severe episodes, which may be triggered by fever, injury, or other stresses on the body. Less commonly, the signs and symptoms persist at the same level or slowly increase in severity over time rather than occurring as episodes that come and go. In these individuals, the neurological problems are usually limited to dystonia, seizure disorders, and delay in the development of mental and motor skills (psychomotor delay).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:65284","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011841","ORPHANET_ID__c":"ORPHA:199348; ORPHA:65284","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de los ganglios basales sensible a la biotina-tiamina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de los ganglios basales sensible a la biotina-tiamina","Spanish_GARD_Synonym__c":"bbgd; btbgd; enfermedad de los ganglios basales sensible a la biotina","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":"Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family. The signs and symptoms of biotin-thiamine-responsive basal ganglia disease usually begin between the ages of 3 and 10, but the disorder can appear at any age. Many of the neurological problems that can occur in biotin-thiamine-responsive basal ganglia disease affect movement, and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia). Movement problems can also affect the face, and may include the inability to move facial muscles due to facial nerve paralysis (supranuclear facial palsy), paralysis of the eye muscles (external ophthalmoplegia), difficulty chewing or swallowing (dysphagia), and slurred speech. Affected individuals may also experience confusion, loss of previously learned skills, intellectual disability, and seizures. Severe cases may result in coma and become life-threatening. Typically, the neurological symptoms occur as increasingly severe episodes, which may be triggered by fever, injury, or other stresses on the body. Less commonly, the signs and symptoms persist at the same level or slowly increase in severity over time rather than occurring as episodes that come and go. In these individuals, the neurological problems are usually limited to dystonia, seizure disorders, and delay in the development of mental and motor skills (psychomotor delay).","Curated_Disease_Description_Source__c":"GARD:0010237","GARD_Synonym__c":"bbgd; biotin-thiamine-responsive basal ganglia disease; btbgd; encephalopathy, thiamine-responsive; thiamine metabolism dysfunction syndrome 2; thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type); thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2); thiamine metabolism dysfunction syndrome type 2; thiamine transporter-2 deficiency; thiamine-responsive encephalopathy; thmd2","Name":"Biotin-responsive basal ganglia disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:65284"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:65284"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:65284"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843807"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010237","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK169615","Source__c":"Gene Review","Xref__c":"NBK169615"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050659","Source__c":"MONDO:0011841","Xref__c":"DOID:0050659"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703522009","Source__c":"C1843807; MONDO:0011841","Xref__c":"703522009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843807","Source__c":"C1843807","Xref__c":"C1843807"},{"URL__c":"https://www.orpha.net/en/disease/detail/65284","Source__c":"C1843807; MONDO:0011841; ORPHA:65284","Xref__c":"ORPHA:65284"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375289","Source__c":"C1843807","Xref__c":"MEDGEN:375289"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537658","Source__c":"MONDO:0011841","Xref__c":"C537658"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723557004","Source__c":"MONDO:0011841","Xref__c":"723557004"},{"URL__c":"https://medlineplus.gov/genetics/condition/biotin-thiamine-responsive-basal-ganglia-disease","Source__c":"GARD:0010237","Xref__c":"https://medlineplus.gov/genetics/condition/biotin-thiamine-responsive-basal-ganglia-disease"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011841","Source__c":"GARD:0010237","Xref__c":"MONDO:0011841"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C212885","Source__c":"C1843807","Xref__c":"C212885"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC19A3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc19a3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["bbgd"," biotin-thiamine-responsive basal ganglia disease"," btbgd"," encephalopathy, thiamine-responsive"," thiamine metabolism dysfunction syndrome 2"," thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)"," thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)"," thiamine metabolism dysfunction syndrome type 2"," thiamine transporter-2 deficiency"," thiamine-responsive encephalopathy"," thmd2"]}