{"Name":"Leber plus disease","DiseaseID__c":"GARD:0008476","id":8476,"encodedName":"leber-plus-disease","IsDeleted":false,"Disease_Name_Full__c":"Leber plus disease","Xref_IDs__c":"719430008; C4304725; DOID:0111754; MEDGEN:930394; MONDO:0020478; ORPHA:99718","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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:0020478","Disease_Description__c":"A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.","GARD_Name__c":"Leber plus disease","GARD_Synonym__c":"lhon plus disease","Curated_Disease_Description_Source__c":"GARD:0008476","Curated_Disease_Description__c":"Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia. Dystonia involves involuntary muscle contractions, tremors, and other uncontrolled movements. It is caused by genetic changes in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood.","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:99718","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020478","ORPHANET_ID__c":"ORPHA:99718","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de leber 'plus'","Spanish_Description_Source__c":"ORPHA:99718","Spanish_Description__c":"Es una enfermedad mitocondrial hereditaria poco frecuente caracterizada por los rasgos clínicos de la neuropatía óptica hereditaria de Leber acompañada de otras anomalías sistémicas o neurológicas, como temblor postural, trastorno motor, síndrome similar a la esclerosis múltiple, enfermedad de la médula espinal, cambios esqueléticos, parkinsonismo con distonía, anartria, distonía, neuropatía periférica sensitiva y motora, espasticidad, encefalopatía leve y arritmias cardíacas.","Spanish_Disease_Name__c":"enfermedad de leber 'plus'","Spanish_GARD_Synonym__c":"enfermedad de lhon 'plus'","Category_Linearization__c":"ORPHA:97966","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":"Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia. Dystonia involves involuntary muscle contractions, tremors, and other uncontrolled movements. It is caused by genetic changes in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood.","Curated_Disease_Description_Source__c":"GARD:0008476","GARD_Synonym__c":"lhon plus disease","Name":"Leber plus disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"Leber's Hereditary Optic Neuropathy","Website__c":"https://www.lhon.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99718"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99718"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99718"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:99718"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839040"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930394","Source__c":"C4304725","Xref__c":"MEDGEN:930394"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304725","Source__c":"C4304725","Xref__c":"C4304725"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719430008","Source__c":"C4304725; MONDO:0020478","Xref__c":"719430008"},{"URL__c":"https://www.orpha.net/en/disease/detail/99718","Source__c":"C4304725; MONDO:0020478; ORPHA:99718","Xref__c":"ORPHA:99718"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111754","Source__c":"MONDO:0020478","Xref__c":"DOID:0111754"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020478","Source__c":"GARD:0008476","Xref__c":"MONDO:0020478"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MT-ND4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-nd4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MT-ND6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mt-nd6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Cardiology","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"Account":["Mitochondrial","Cardiomyopathy"]},"synonyms":["lhon plus disease"]}