Leukodystrophy is a rare genetic disorder affecting the brain, spinal cord, and nerves due to defects in myelin, the protective covering of nerves. It is progressive and caused by gene mutations. Symptoms include decline in functioning, affecting body tone, movements, speech, vision, and behavior. Leukodystrophies damage the white matter of the central nervous system, slowing down nerve signals and leading to various symptoms. The disorders are classified based on the timing of damage, either before or after birth. They result from genetic mutations affecting the growth of glial cells producing myelin. Symptoms vary depending on the type of leukodystrophy and may include muscle tone issues, balance problems, speech difficulties, and developmental delays. Leukodystrophies are characterized by the dysfunction of the white matter in the brain and are caused by mutations disrupting myelin sheath development. Over 50 types of leukodystrophies have been identified, such as Alexander disease, Canavan disease, and metachromatic leukodystrophy.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.