MCID: LKD001
MIFTS: 53

Leukodystrophy malady

Summaries for Leukodystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 33MalaCards
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MedlinePlus:34 The leukodystrophies are rare diseases that affect the cells of the brain. specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. damage to this sheath slows down or blocks messages between the brain and the rest of the body. this leads to problems with movement speaking vision hearing mental and physical development most of the leukodystrophies are genetic. they usually appear during infancy or childhood. they can be hard to detect early because children seem healthy at first. however, symptoms gradually get worse over time. there are no cures for any of the leukodystrophies. medicines, speech therapy and physical therapy might help with symptoms. researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. nih: national institute of neurological disorders and stroke

MalaCards: Leukodystrophy, also known as leukodystrophies, is related to metachromatic leukodystrophy and krabbe disease. An important gene associated with Leukodystrophy is PSAP (prosaposin), and among its related pathways are Recycling of eIF2:GDP and Translation Factors. The compounds galactosylceramide and formylglycine have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:8 A cerebral degeneration characterized by dysfunction of the white matter of the brain.

NIH Rare Diseases:43 Leukodystrophy refers to the progressive degeneration of the white matter of the brain due to abnormalities of myelin, the fatty covering that insulates nerves. the leukodystrophies are a group of disorders caused by mutations in the genes involved in the production of 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 gradual decline in functioning of an infant or child who previously appeared well. progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.  last updated: 1/25/2010

NINDS:44 Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabb

Wikipedia:64 Leukodystrophy refers to a group of disorders characterized by degeneration of the white matter in the... more...

Aliases & Classifications for Leukodystrophy

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 64Wikipedia, 34MedlinePlus, 40NCIt, 57SNOMED-CT, 27ICD9CM
See all sources

Aliases & Descriptions:

leukodystrophy 8 43 44 10 45 61
leukodystrophies 64 34
leucodystrophy nos 8
leucodystrophy 8


External Ids:

Disease Ontology8 DOID:10579
NCIt40 C61253
ICD9CM27 330.0

Related Diseases for Leukodystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Leukodystrophy family:

leukodystrophy with oligodontia

Diseases related to Leukodystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1metachromatic leukodystrophy31.8SUMF1, ARSA, ARSH, GALC, PSAP
2krabbe disease31.0ARSA, GALC, PSAP
3pelizaeus-merzbacher disease30.5PLP1, GJC2
4childhood ataxia with central nervous system hypomyelination/vanishing white matter30.1EIF2B3, EIF2B5, EIF2B2
5gaucher's disease30.0PSAP
6mucosulfatidosis30.0ARSH, ARSA
7ovarioleukodystrophy29.7EIF2B5, EIF2B2
8sphingolipidosis29.7GALC, PSAP, ARSA
9cerebral lipidosis29.7ARSA
10sandhoff disease29.7ARSA, HEXA
11pol iii-related leukodystrophies10.6
12leukodystrophy, adult-onset, autosomal dominant10.5
13alexander disease10.5
14retinal vasculopathy with cerebral leukodystrophy10.4
15adrenoleukodystrophy10.4
16canavan disease10.4
17metachromatic leukodystrophy, late infantile form10.4
18hypomyelination with atrophy of basal ganglia and cerebellum10.3
19ataxia10.3
20metachromatic leukodystrophy, adult form10.3
21metachromatic leukodystrophy, juvenile form10.3
22muscle-eye-brain disease with bilateral multicystic leucodystrophy10.2
23leukodystrophy, hypomyelinating 310.2
24metachromatic leukodystrophy due to saposin b deficiency10.2
25infantile krabbe disease10.2
26gallbladder papillomatosis10.2
27t cell deficiency10.2
28megalencephalic leukoencephalopathy with subcortical cysts10.2
29angiomatosis10.2
30fucosidosis10.1
31hereditary diffuse leukoencephalopathy with spheroids10.1
32leigh syndrome with leukodystrophy10.1
33zellweger syndrome10.1
34protein s deficiency10.1
35n syndrome10.1
36brain disease10.1
37hypomyelination and congenital cataract10.1
38leukodystrophy with oligodontia10.1
39leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia10.1
40spastic paraparesis10.1
41megalencephaly10.1
42tremor10.1
43leukodystrophy, hypomyelinating, 210.1
44leukodystrophy, hypomyelinating, 410.1
45hematopoietic stem cell transplantation10.1
46oculocutaneous albinism10.0
47albinism10.0
48aspartylglucosaminuria10.0
49cerebrotendinous xanthomatosis10.0
50fatty acid hydroxylase-associated neurodegeneration10.0

Graphical network of the top 20 diseases related to Leukodystrophy:



Diseases related to leukodystrophy

Clinical Features for Leukodystrophy

Drugs & Therapeutics for Leukodystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Leukodystrophy

Drug clinical trials:

Search ClinicalTrials for Leukodystrophy

Search NIH Clinical Center for Leukodystrophy

Search CenterWatch for Leukodystrophy

Genetic Tests for Leukodystrophy

Anatomical Context for Leukodystrophy

Animal Models for Leukodystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Leukodystrophy

Sources:
51PubMed
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Articles related to Leukodystrophy:

(show top 50)    (show all 766)
idTitleAuthorsYear
1
Pendular nystagmus in hypomyelinating leukodystrophy. (23845262)
2013
2
High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice. (22951180)
2013
3
Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. (24139698)
2013
4
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. (23649844)
2013
5
Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. (21909802)
2012
6
Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects. (23650469)
2012
7
Bone Marrow Transplantation Alters the Tremor Phenotype in the Murine Model of Globoid-Cell Leukodystrophy. (24013457)
2012
8
Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature. (21042305)
2011
9
Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. (21098404)
2010
10
Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease. (21049202)
2010
11
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. (20410102)
2010
12
Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. (20446225)
2009
13
Megalencephalic leukodystrophy with simple hemihyperplasia: a rare association. (19050405)
2009
14
Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy. (18768108)
2009
15
Polymorphisms in genes encoding the serotonin and dopamine pathways in two sisters with metachromatic leukodystrophy. (18831910)
2008
16
Acquired obstructive hydrocephalus in globoid-cell leukodystrophy. (18805368)
2008
17
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. (19001169)
2008
18
Molecular beacon genotyping for globoid cell leukodystrophy from hair roots in the twitcher mouse and rhesus macaque. (17412425)
2007
19
Sedation for children with metachromatic leukodystrophy undergoing MRI. (17184435)
2007
20
Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. (16554462)
2006
21
Gene symbol: ARSA. Disease: metachromatic leukodystrophy. (16521257)
2005
22
Gene therapy of metachromatic leukodystrophy. (15709909)
2005
23
AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2. (15996520)
2005
24
Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family. (12027835)
2002
25
Neuroaxonal leukodystrophy associated with congenital cutis laxa: report of an autopsy case. (10787041)
2000
26
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. (10546790)
1999
27
Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation. (10334395)
1999
28
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. (10477432)
1999
29
Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. (9877277)
1998
30
Adult onset Krabbe's leukodystrophy: a report of 2 cases. (9449482)
1997
31
A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient. (9272717)
1997
32
An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient. (7635478)
1995
33
Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy. (8110418)
1993
34
An arylsulfatase A (ARSA) missense mutation (T274M) causing late- infantile metachromatic leukodystrophy. (8104633)
1993
35
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. (8281145)
1993
36
Ultrastructural study of the retina in late infantile metachromatic leukodystrophy. (1608595)
1992
37
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells. (6137815)
1983
38
Juvenile metachromatic leukodystrophy: evoked potentials and computed tomography. (6830154)
1983
39
Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis by amniotic fluid and its confirmation. (6119972)
1982
40
An unusual form of metachromatic leukodystrophy in three siblings. (6115727)
1981
41
Adult metachromatic leukodystrophy. III. Clinical course, final stages and first biochemical results. (7398690)
1980
42
Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis. (403037)
1977
43
Staining of sulphatides in metachromatic leukodystrophy with Alcian blue at high salt concentrations. (50307)
1975
44
Sulfogalactosylsphingosine sulfatase. Characteristics of the enzyme and its deficiency in metachromatic leukodystrophy in human cultured skin fibroblasts. (4846753)
1974
45
Metachromatic reaction of pseudoisocyanine with sulfatides in metachromatic leukodystrophy (MLD). I. Technique of histochemical staining. (4135170)
1974
46
Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers. (4776531)
1973
47
Metachromatic leukodystrophy: ambiguity of heterozygote identification. (4706397)
1973
48
Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD. (5540376)
1971
49
Qualitative and quantitative differences in sulfatase A which distinguish different forms of classical metachromatic leukodystrophy (MLD). (5100707)
1971
50
Enzymatic abnormality of the carrier state in metachromatic leukodystrophy. (5496557)
1970

Genetic Variations for Leukodystrophy

Expression for genes affiliated with Leukodystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leukodystrophy

Search GEO for disease gene expression data for Leukodystrophy.

Pathways for genes affiliated with Leukodystrophy

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Leukodystrophy

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Leukodystrophy according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1galactosylceramide4510.8PSAP, GALC, ARSA
2formylglycine4510.8SUMF1, ARSA, ARSH
3sulfatide4510.8PSAP, ARSH, ARSA, PLP1
4p-nitrocatechol sulfate4510.8ARSH, ARSA
5mucopolysaccharide4510.8STS, ARSA, ARSH
6cerebroside4510.8STS, ARSA, ARSH, HEXA
74-methylumbelliferyl sulfate4510.8ARSH, STS
8estradiol sulfate4510.8ARSH, STS
94-methylumbelliferyl-beta-d-glucoside4510.8PSAP, GALC
10mannose 6-phosphate45 2411.8HEXA, PSAP, GALC, ARSA
11medrogestone4510.8ARSH, STS
12estrone-3-o-sulfamate4510.8ARSH, STS
13n-acetylgalactosamine 6-sulfate4510.8ARSH, ARSA
14sulfate45 2411.8STS, ARSA, ARSH, PSAP
15psychosine4510.7PSAP, GALC
16norelgestromin45 1111.7ARSH, STS
17cysteine4510.7HSPD1, PSAP, ARSH, ARSA, STS, PLP1
18dydrogesterone29 45 1112.7ARSH, STS
19lipid4510.7HSPD1, HEXA, PSAP, GALC, ARSH, ARSA
20pregnenolone sulfate4510.7ARSH, STS
21glycolipid4510.7HEXA, PSAP, GALC
22promegestone45 2911.7STS, ARSH
23hydrogen45 2411.6HSPD1, PSAP, ARSH, ARSA, STS
24androstenediol4510.6STS, ARSH
25dhea4510.6ARSH, ARSA, STS
26ganglioside4510.6ARSA, PSAP, HEXA
27n-acetylglucosamine4510.5ARSA, HEXA, HSPD1
28nomegestrol acetate4510.5ARSH, STS
29glycosphingolipid4510.5ARSA, PSAP
30estrone45 29 11 2413.4STS, ARSA, ARSH
31cholesterol45 29 11 2413.3HSPD1, PSAP, ARSH, STS, PLP1
32oligonucleotide4510.1PLP1, TREX1, STS, ARSA, PSAP

GO Terms for genes affiliated with Leukodystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Leukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1eukaryotic translation initiation factor 2B complexGO:00585110.5EIF2B5, EIF2B3, EIF2B2
2DNA-directed RNA polymerase III complexGO:00566610.4POLR3B, POLR3A
3lysosomal lumenGO:04320210.4HEXA, ARSA, GALC, PSAP
4endoplasmic reticulum lumenGO:00578810.3STS, ARSA, ARSH, SUMF1
5myelin sheathGO:04320910.1PLP1, GJC2

Biological processes related to Leukodystrophy according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1oligodendrocyte developmentGO:01400310.7EIF2B3, EIF2B5, EIF2B2
2response to peptide hormone stimulusGO:04343410.7EIF2B2, EIF2B5, EIF2B3
3myelinationGO:04255210.7EIF2B2, EIF2B5, HEXA
4cell deathGO:00821910.7PLP1, GJC2, TREX1, FA2H, HEXA
5sphingolipid metabolic processGO:00666510.7SUMF1, HEXA, FA2H, PSAP, GALC, ARSH
6glycosphingolipid metabolic processGO:00668710.7HEXA, PSAP, GALC, ARSH, ARSA, STS
7response to heatGO:00940810.7EIF2B3, EIF2B5, EIF2B2
8cellular response to stimulusGO:05171610.7EIF2B2, EIF2B3
9cellular protein metabolic processGO:04426710.7ARSH, ARSA, STS, EIF2B3, EIF2B5, EIF2B2
10negative regulation of translational initiation in response to stressGO:03205710.7EIF2B5, EIF2B3
11response to glucose stimulusGO:00974910.6EIF2B3, EIF2B5, EIF2B2
12post-translational protein modificationGO:04368710.6ARSH, ARSA, STS, SUMF1
13positive regulation of type I interferon productionGO:03248110.6POLR3B, POLR3A, TREX1
14small molecule metabolic processGO:04428110.5HEXA, PSAP, GALC, ARSH, ARSA, STS
15gene expressionGO:01046710.5EIF2B2, EIF2B5, EIF2B3, POLR3B, POLR3A
16positive regulation of interferon-beta productionGO:03272810.4POLR3B, POLR3A
17translational initiationGO:00641310.4EIF2B3, EIF2B5, EIF2B2
18transcription elongation from RNA polymerase III promoterGO:00638510.3POLR3B, POLR3A
19termination of RNA polymerase III transcriptionGO:00638610.1POLR3B, POLR3A

Molecular functions related to Leukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribonucleoside bindingGO:03254910.6POLR3A, POLR3B
2sulfuric ester hydrolase activityGO:00848410.5ARSA, STS
3arylsulfatase activityGO:00406510.5ARSH, ARSA
4translation initiation factor activityGO:00374310.4EIF2B2, EIF2B5, EIF2B3
5RNA polymerase III activityGO:00105610.3POLR3B, POLR3A
6guanyl-nucleotide exchange factor activityGO:00508510.1EIF2B5, EIF2B3, EIF2B2

Products for genes affiliated with Leukodystrophy

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Sources for Leukodystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet