{"Name":"C11orf73-related autosomal recessive hypomyelinating leukodystrophy","DiseaseID__c":"GARD:0017910","id":17910,"encodedName":"c11orf73-related-autosomal-recessive-hypomyelinating-leukodystrophy","IsDeleted":false,"Disease_Name_Full__c":"C11orf73-related autosomal recessive hypomyelinating leukodystrophy","Xref_IDs__c":"1172595004; C5567456; MEDGEN:1798879; MONDO:0044642; ORPHA:495844","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:495844","Disease_Description__c":"A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.","GARD_Name__c":"C11orf73-related autosomal recessive hypomyelinating leukodystrophy","GARD_Synonym__c":"c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy; hypomyelinating leukodystrophy due to hikeshi deficiency","Curated_Disease_Description_Source__c":"ORPHA:495844","Curated_Disease_Description__c":"A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:495844","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044642","ORPHANET_ID__c":"ORPHA:495844","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucodistrofia hipomielinizante autosómica recesiva asociada a c11orf73","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucodistrofia hipomielinizante autosómica recesiva asociada a c11orf73","Spanish_GARD_Synonym__c":"leucodistrofia hipomielinizante por deficiencia de hikeshi; leucoencefalopatía hipomielinizante autosómica recesiva asociada a c11orf73; leucoencefalopatía hipomielinizante autosómica recesiva asociada al gen c11orf73","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 leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.","Curated_Disease_Description_Source__c":"ORPHA:495844","GARD_Synonym__c":"c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy; hypomyelinating leukodystrophy due to hikeshi deficiency","Name":"C11orf73-related autosomal recessive hypomyelinating leukodystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"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":"Infancy","Provided_By__c":"ORPHA:495844"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/495844","Source__c":"C5567456; MONDO:0044642; ORPHA:495844","Xref__c":"ORPHA:495844"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798879","Source__c":"C5567456","Xref__c":"MEDGEN:1798879"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567456","Source__c":"C5567456","Xref__c":"C5567456"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044642","Source__c":"GARD:0017910","Xref__c":"MONDO:0044642"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172595004","Source__c":"C5567456","Xref__c":"1172595004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HIKESHI","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","Ophthalmology","Neuro-Ophthalmology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy"," hypomyelinating leukodystrophy due to hikeshi deficiency"]}