Metachromatic Leukodystrophy malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 12diseasecard, 68UniProtKB/Swiss-Prot, 66UMLS, 25GTR, 48Novoseek, 37MeSH, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Metachromatic Leukodystrophy:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (Netherlands),1-9/100000 (Portugal),1-9/1000000 (Germany),1-9/100000 (Turkey),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Poland),1-9/100000 (United States),1-9/100000 (Worldwide),1-9/100000 (Sweden); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,adult,early childhood,late childhood,young Adult
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases
ICD10: 29 28
NIH Rare Diseases:46 Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. this accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. they also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. eventually they lose awareness of their surroundings and become unresponsive. this condition is inherited in an autosomal recessive pattern and is caused by mutations in the arsa and psap genes. last updated: 9/19/2014
MalaCards based summary: Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to metachromatic leukodystrophy, late infantile form and multiple sulfatase deficiency, and has symptoms including behavioral abnormality, decreased nerve conduction velocity and seizures. An important gene associated with Metachromatic Leukodystrophy is ARSA (Arylsulfatase A), and among its related pathways are Glycosaminoglycan degradation and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include brain, bone and bone marrow, and related mouse phenotypes are hearing/vestibular/ear and muscle.
Disease Ontology:11 A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
Genetics Home Reference:24 Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system).
OMIM:50 The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD:... (250100) more...
NINDS:47 Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies, which are characterized by the toxic buildup of lipids (fatty materials such as oils and waxes) and other storage materials in cells in the white matter of the central nervous system and peripheral nerves.
UniProtKB/Swiss-Prot:68 Leukodystrophy metachromatic: A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non- neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late- infantile, juvenile and adult.
Wikipedia:69 Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage... more...
GeneReviews summary for NBK1130
Symptoms by clinical synopsis from OMIM:250100
Clinical features from OMIM:250100
Symptoms:52 (show all 22)
HPO human phenotypes related to Metachromatic Leukodystrophy:(show all 50)
UMLS symptoms related to Metachromatic Leukodystrophy:ataxia, seizures, muscle weakness
Drugs for Metachromatic Leukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 33)
Interventional clinical trials:(show all 31)
Search NIH Clinical Center for Metachromatic Leukodystrophy
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Metachromatic Leukodystrophy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Metachromatic Leukodystrophy:
Embryonic/Adult Cultured Cells Related to Metachromatic Leukodystrophy:
MalaCards organs/tissues related to Metachromatic Leukodystrophy:34
Brain, Bone, Bone marrow, Spinal cord, Skin, Liver, Eye
MGI Mouse Phenotypes related to Metachromatic Leukodystrophy:39
Articles related to Metachromatic Leukodystrophy:(show top 50) (show all 546)
UniProtKB/Swiss-Prot genetic disease variations for Metachromatic Leukodystrophy:68 (show all 97)
Clinvar genetic disease variations for Metachromatic Leukodystrophy:5 (show all 45)
Copy number variations for Metachromatic Leukodystrophy from CNVD:6
Search GEO for disease gene expression data for Metachromatic Leukodystrophy.
Pathways related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:
Cellular components related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:
Biological processes related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:(show all 9)
Molecular functions related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet