{"Name":"Leukodystrophy","DiseaseID__c":"GARD:0006895","id":6895,"encodedName":"leukodystrophy","IsDeleted":false,"Disease_Name_Full__c":"Leukodystrophy","Xref_IDs__c":"192781003; C0023520; C61253; DOID:0050987; DOID:0060786; DOID:10579; HP:0002415; MEDGEN:6070; MONDO:0019046; OMIMPS:312080; ORPHA:68356","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019046","Disease_Description__c":"Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.","GARD_Name__c":"Leukodystrophy","GARD_Synonym__c":"degeneration of white matter of brain; hld; hypomyelinating leukodystrophy","Curated_Disease_Description_Source__c":"GARD:0006895","Curated_Disease_Description__c":"A Leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes in the genes involved in making myelin. Specific leukodystrophies include metachromatic Leukodystrophy, Krabbe Leukodystrophy, X-linked adrenoLeukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a Leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:68356","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019046","ORPHANET_ID__c":"ORPHA:68356","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucodistrofia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"leucodistrofia","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":"A Leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes in the genes involved in making myelin. Specific leukodystrophies include metachromatic Leukodystrophy, Krabbe Leukodystrophy, X-linked adrenoLeukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a Leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.","Curated_Disease_Description_Source__c":"GARD:0006895","GARD_Synonym__c":"degeneration of white matter of brain; hld; hypomyelinating leukodystrophy","Name":"Leukodystrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ADLD Center","Website__c":"https://www.adld.center"},{"Account_Name__c":"Aicardi Goutieres Syndrome Advocacy Association","Website__c":"https://agsaa.org/"},{"Account_Name__c":"ALD Alliance","Website__c":"https://www.aldalliance.org/"},{"Account_Name__c":"ALD Connect","Website__c":"https://aldconnect.org/"},{"Account_Name__c":"A Rare Ruby","Website__c":"https://www.facebook.com/RarestRuby/"},{"Account_Name__c":"Arrivederci ALD","Website__c":"https://www.arrivederciald.org/"},{"Account_Name__c":"Bethany’s Hope Foundation","Website__c":"https://bethanyshope.org/"},{"Account_Name__c":"Chloe's Fight Rare Disease Foundation","Website__c":"https://www.chloesfight.org/"},{"Account_Name__c":"CTX Alliance","Website__c":"https://ctxalliance.org/"},{"Account_Name__c":"Cure GM1 Foundation","Website__c":"https://curegm1.org/"},{"Account_Name__c":"Cure LBSL","Website__c":"https://www.curelbsl.org/"},{"Account_Name__c":"Elise’s Corner","Website__c":"https://elisescorner.net/"},{"Account_Name__c":"Fight ALD","Website__c":"https://www.fightald.org/"},{"Account_Name__c":"Foundation to Fight H-ABC","Website__c":"https://www.h-abc.org/"},{"Account_Name__c":"Gavin Flying for a Cure","Website__c":"https://tggf.ie/about/"},{"Account_Name__c":"Global DARE Foundation","Website__c":"https://www.defeatadultrefsumeverywhere.org/"},{"Account_Name__c":"H-ABC Foundation UK","Website__c":"https://www.habcfoundationuk.co.uk/"},{"Account_Name__c":"Krabbe Connect","Website__c":"https://krabbeconnect.org/"},{"Account_Name__c":"Leukodystrophy Resource & Research Organisation","Website__c":"https://www.facebook.com/LeukodystrophyRRO/"},{"Account_Name__c":"MLD Foundation","Website__c":"https://mldfoundation.org/"},{"Account_Name__c":"MLD Support Association UK","Website__c":"https://www.mldsupportuk.org.uk/"},{"Account_Name__c":"MSD Action Foundation","Website__c":"http://www.savingdylan.com/"},{"Account_Name__c":"National Tay-Sachs and Allied Diseases Association","Website__c":"https://www.ntsad.org/"},{"Account_Name__c":"Remember The Girls","Website__c":"https://rememberthegirls.org/"},{"Account_Name__c":"Sisters' Hope Foundation","Website__c":"https://sistershopefoundation.org/"},{"Account_Name__c":"The Calliope Joy Foundation","Website__c":"https://www.facebook.com/thecalliopejoyfoundation/"},{"Account_Name__c":"Canavan Foundation","Website__c":"https://www.canavanfoundation.org"},{"Account_Name__c":"The M.O.R.G.A.N Project","Website__c":"https://themorganproject.org/"},{"Account_Name__c":"The Stop ALD Foundation","Website__c":"https://www.stopald.org/"},{"Account_Name__c":"YaYa Foundation","Website__c":"https://yayafoundation4hl.org/"},{"Account_Name__c":"United MSD Foundation","Website__c":"https://curemsd.org/"},{"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":"Fundación Lautaro te Necesita","Website__c":"https://fundacionlautarotenecesita.org/"},{"Account_Name__c":"United Leukodystrophy Foundation","Website__c":"https://ulf.org/"},{"Account_Name__c":"Leukodystrophy Australia","Website__c":"https://www.leuko.org.au/"},{"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":"European Leukodystrophies Association","Website__c":"https://ela-asso.com/en/"}],"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"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/GALC"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0023520"},{"Type__c":"GTR","Curie__c":"MEDGEN:CN228461"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61253","Source__c":"C0023520; MONDO:0019046","Xref__c":"C61253"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060786","Source__c":"MONDO:0019046","Xref__c":"DOID:0060786"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS312080","Source__c":"MONDO:0019046","Xref__c":"OMIMPS:312080"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6070","Source__c":"C0023520","Xref__c":"MEDGEN:6070"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=192781003","Source__c":"C0023520; MONDO:0019046","Xref__c":"192781003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A10579","Source__c":"MONDO:0019046","Xref__c":"DOID:10579"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023520","Source__c":"C0023520","Xref__c":"C0023520"},{"URL__c":"https://www.orpha.net/en/disease/detail/68356","Source__c":"C0023520; MONDO:0019046; ORPHA:68356","Xref__c":"ORPHA:68356"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050987","Source__c":"MONDO:0019046","Xref__c":"DOID:0050987"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002415","Source__c":"C0023520","Xref__c":"HP:0002415"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019046","Source__c":"GARD:0006895","Xref__c":"MONDO:0019046"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/leukodystrophy"}],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Leukodystrophy"],"Specialist":["Genetics","Neurology"],"Account":["Leukodystrophy"]},"synonyms":["degeneration of white matter of brain"," hld"," hypomyelinating leukodystrophy"],"spanishId":13094,"spanishName":"leucodistrofia"}