{"Name":"Odontoleukodystrophy","DiseaseID__c":"GARD:0009632","id":9632,"encodedName":"odontoleukodystrophy","IsDeleted":false,"Disease_Name_Full__c":"Odontoleukodystrophy","Xref_IDs__c":"722064003; C3502054; MEDGEN:502456; MONDO:0019177; ORPHA:77295","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019177","Disease_Description__c":"Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.","GARD_Name__c":"Odontoleukodystrophy","GARD_Synonym__c":"dentoleukoencephalopathy","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"4H leukodystrophy is a rare disorder that affects the brain and nervous system. People with this condition usually have dental problems such as delayed or abnormal development and arrangement of their teeth (dentition) or missing teeth (hypodontia). They may also have delayed or absent puberty caused by a lack of hormones that nornally regulate sexual devlopment and function (hypogonadotropic hypogonadism). People with this disease also have a lack of primary myelin (a protective covering on nerves) formation called hypomyelinating leukodystropy, which can lead to neurodevelopmental delay or regression and progressive cerebellar symptoms such as problems with movement, balance, and coordination.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:77295","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019177","ORPHANET_ID__c":"ORPHA:77295","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Odontoleucodistrofia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"odontoleucodistrofia","Spanish_GARD_Synonym__c":"leucodistrofia con oligodontia","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":"4H leukodystrophy is a rare disorder that affects the brain and nervous system. People with this condition usually have dental problems such as delayed or abnormal development and arrangement of their teeth (dentition) or missing teeth (hypodontia). They may also have delayed or absent puberty caused by a lack of hormones that nornally regulate sexual devlopment and function (hypogonadotropic hypogonadism). People with this disease also have a lack of primary myelin (a protective covering on nerves) formation called hypomyelinating leukodystropy, which can lead to neurodevelopmental delay or regression and progressive cerebellar symptoms such as problems with movement, balance, and coordination.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"dentoleukoencephalopathy","Name":"Odontoleukodystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"Hunter's Hope Foundation","Website__c":"https://www.huntershope.org/"},{"Account_Name__c":"YaYa Foundation","Website__c":"https://yayafoundation4hl.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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:77295"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009632","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK99167","Source__c":"Gene Review","Xref__c":"NBK99167"},{"URL__c":"https://www.orpha.net/en/disease/detail/77295","Source__c":"C3502054; MONDO:0019177; ORPHA:77295","Xref__c":"ORPHA:77295"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3502054","Source__c":"C3502054","Xref__c":"C3502054"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722064003","Source__c":"C3502054; MONDO:0019177","Xref__c":"722064003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=502456","Source__c":"C3502054","Xref__c":"MEDGEN:502456"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019177","Source__c":"GARD:0009632","Xref__c":"MONDO:0019177"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POLR3A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/polr3a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Leukodystrophy"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["dentoleukoencephalopathy"],"spanishId":13669,"spanishName":"leucodistrofia-relacionada-con-polr3"}