MCID: LKD001
MIFTS: 58

Leukodystrophy malady

Summaries for Leukodystrophy

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8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 19GeneReviews, 32MalaCards
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MedlinePlus:33 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. Affiliated tissues include brain, bone and bone marrow, and 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:42 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:43 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:63 Leukodystrophy is group of disorders characterized by degeneration of the white matter in the brain. The... more...

GeneReviews summary for leukodys-ov

Aliases & Classifications for Leukodystrophy

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 63Wikipedia, 33MedlinePlus, 39NCIt, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

leukodystrophy 8 19 42 43 10 44 60
leukodystrophies 63 33
leucodystrophy nos 8
leucodystrophy 8


External Ids:

Disease Ontology8 DOID:10579
NCIt39 C61253
ICD9CM27 330.0

Related Diseases for Leukodystrophy

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17GeneCards, 18GeneDecks
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Diseases related to Leukodystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1metachromatic leukodystrophy31.8SUMF1, STS, ARSA, HEXA, PSAP, GALC
2krabbe disease30.9ARSA, GALC, PSAP
3pelizaeus-merzbacher disease30.5PLP1, GJC2
4neuropathy30.4SOX10
5multiple sclerosis30.2PLP1, HSPD1
6childhood ataxia with central nervous system hypomyelination/vanishing white matter30.1EIF2B3, EIF2B5, EIF2B2
7lysosomal storage disease29.9HEXA, PSAP, GALC, ARSH, ARSA, SUMF1
8mucosulfatidosis29.9ARSA, ARSH
9tay-sachs disease29.9PSAP, HEXA
10schizophrenia29.9PLP1, ARSA, SOX10
11gangliosidosis29.7HEXA, PSAP, GALC
12ovarioleukodystrophy29.7EIF2B5, EIF2B2
13sphingolipidosis29.7PSAP, GALC, ARSA
14cerebral lipidosis29.7ARSA
15mucopolysaccharidosis29.7HEXA, ARSH, ARSA, SUMF1
16pol iii-related leukodystrophies10.6
17alexander disease10.5
18retinal vasculopathy with cerebral leukodystrophy10.4
19adrenoleukodystrophy10.4
20canavan disease10.3
21cerebritis10.3
22dementia10.3
23hypomyelination with atrophy of basal ganglia and cerebellum10.3
24neuronitis10.3
25leukodystrophy, adult-onset, autosomal dominant10.3
26megalencephalic leukoencephalopathy with subcortical cysts10.2
27leukodystrophy, hypomyelinating 310.2
28metachromatic leukodystrophy due to saposin b deficiency10.2
29muscle-eye-brain disease with bilateral multicystic leucodystrophy10.2
30gallbladder papillomatosis10.2
31peripheral neuropathy10.2
32fucosidosis10.1
33nervous system disease10.1
34hypomyelination and congenital cataract10.1
35hereditary diffuse leukoencephalopathy with spheroids10.1
36leigh syndrome with leukodystrophy10.1
37meningitis10.1
38zellweger syndrome10.1
39brain disease10.1
40hydrocephalus10.1
41skin disease10.1
42leukodystrophy with oligodontia10.1
43leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia10.1
44leukodystrophy, hypomyelinating, 210.1
45leukodystrophy, hypomyelinating, 410.1
46metachromatic leukodystrophy, adult form10.1
47metachromatic leukodystrophy, late infantile form10.1
48metachromatic leukodystrophy, juvenile form10.1
49gaucher's disease10.0PSAP
50mucolipidosis10.0ARSA

Graphical network of the top 20 diseases related to Leukodystrophy:



Diseases related to leukodystrophy

Clinical Features for Leukodystrophy

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Drugs & Therapeutics for Leukodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Leukodystrophy

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Anatomical Context for Leukodystrophy

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32MalaCards
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MalaCards organs/tissues related to Leukodystrophy:

32
Brain, Bone, Bone marrow, Testes, Skin, Liver, Spinal cord, Kidney, Retina, Cerebellum, Thyroid, T cells, Skeletal muscle

Animal Models for Leukodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Leukodystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.5PLP1, HEXA, SUMF1, LMNB1, SOX10, FA2H
2MP:000539110.4PLP1, TREX1, GALC, PSAP, FA2H, HEXA
3MP:000538610.4EIF2B5, HEXA, SOX10, FA2H, PSAP, PLP1
4MP:000537810.3PLP1, TREX1, GALC, PSAP, SOX10, HEXA
5MP:001076810.3HSPD1, SUMF1, LMNB1, PLP1, GJC2, EIF2B2
6MP:000538710.2EIF2B2, GALC, ARSA, TREX1, EIF2B5, GJC2
7MP:000539710.1PSAP, SUMF1, EIF2B5, GALC, ARSA, TREX1

Publications for Leukodystrophy

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50PubMed
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Articles related to Leukodystrophy:

(show top 50)    (show all 780)
idTitleAuthorsYear
1
Pendular nystagmus in hypomyelinating leukodystrophy. (23845262)
2013
2
Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy. (23926443)
2013
3
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant. (23681646)
2013
4
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. (23845948)
2013
5
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. (22642214)
2012
6
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT). (22348788)
2012
7
Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy. (22776853)
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
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy. (20596894)
2010
11
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. (19961535)
2010
12
Head trauma can initiate the onset of adreno-leukodystrophy. (19945717)
2010
13
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form. (18329934)
2008
14
Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. (18166768)
2008
15
Mitochondrial Leukodystrophy: an Unusual Manifestation of Leigh's Disease. A Report of Three Cases and Review of the Literature. (24299665)
2007
16
Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy. (17660863)
2007
17
Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. (16441258)
2006
18
Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy]. (16883521)
2006
19
Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy. (15987783)
2005
20
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. (16435193)
2005
21
Childhood leukodystrophy presenting as secondary bipolar disorder. (21407844)
2001
22
Mutations associated with very late-onset metachromatic leukodystrophy. (10189092)
1999
23
Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation. (10334395)
1999
24
IL-6 deficiency causes enhanced pathology in Twitcher (globoid cell leukodystrophy) mice. (10415153)
1999
25
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. (9628190)
1998
26
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. (9545360)
1998
27
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). (10090061)
1998
28
A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease? (9703182)
1998
29
Leukodystrophy incidence in Germany. (9286459)
1997
30
Adult onset Krabbe's leukodystrophy: a report of 2 cases. (9449482)
1997
31
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. (9090526)
1997
32
Urine sulfatides and the diagnosis of metachromatic leukodystrophy. (8595716)
1996
33
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. (8723680)
1996
34
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. (8455580)
1993
35
Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. (8311994)
1993
36
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. (1353340)
1992
37
Molecular basis of different forms of metachromatic leukodystrophy. (1670590)
1991
38
Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. (1673291)
1991
39
Molecular genetics of metachromatic leukodystrophy. (1687778)
1991
40
An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. (1671769)
1991
41
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (2302219)
1990
42
Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. (2568751)
1989
43
Studies in metachromatic leukodystrophy: XV. Purification of normal and mutant arylsulfatase A from human liver. (2867446)
1985
44
Metachromatic leukodystrophy caused by a partial cerebroside sulfatase. (6125284)
1982
45
Neuronal depletion of cerebellum in late infantile metachromatic leukodystrophy. (7224092)
1980
46
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis. (40713)
1979
47
Monozygotic twins with presumed metachromatic leukodystrophy. Activity of arylsulfatase A in serum of patients and family. (29593)
1978
48
Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate. (7105)
1976
49
Metachromatic reaction of pseudoisocyanine with sulfatides in metachromatic leukodystrophy (MLD). I. Technique of histochemical staining. (4135170)
1974
50
Studies on adult metachromatic leukodystrophy. 1. Clinical, morphological and histochemical observations in two cases. (4189441)
1969

Genetic Variations for Leukodystrophy

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Expression for genes affiliated with Leukodystrophy

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

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Pathways for genes affiliated with Leukodystrophy

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Leukodystrophy

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Leukodystrophy according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1galactosylceramide4410.8PSAP, GALC, ARSA
2formylglycine4410.8SUMF1, ARSA, ARSH
3sulfatide4410.8PSAP, ARSH, ARSA, PLP1
4p-nitrocatechol sulfate4410.8ARSH, ARSA
5mucopolysaccharide4410.8STS, ARSA, ARSH
6cerebroside4410.8STS, ARSA, ARSH, HEXA
74-methylumbelliferyl sulfate4410.8ARSH, STS
8estradiol sulfate4410.8ARSH, STS
94-methylumbelliferyl-beta-d-glucoside4410.8PSAP, GALC
10mannose 6-phosphate44 2411.8HEXA, PSAP, GALC, ARSA
11medrogestone4410.8ARSH, STS
12estrone-3-o-sulfamate4410.8ARSH, STS
13n-acetylgalactosamine 6-sulfate4410.8ARSH, ARSA
14sulfate44 2411.8STS, ARSA, ARSH, PSAP
15psychosine4410.7PSAP, GALC
16norelgestromin44 1111.7ARSH, STS
17cysteine4410.7HSPD1, PSAP, ARSH, ARSA, STS, PLP1
18dydrogesterone28 44 1112.7ARSH, STS
19lipid4410.7HSPD1, HEXA, PSAP, GALC, ARSH, ARSA
20pregnenolone sulfate4410.7ARSH, STS
21glycolipid4410.7HEXA, PSAP, GALC
22promegestone44 2811.7STS, ARSH
23hydrogen44 2411.6HSPD1, PSAP, ARSH, ARSA, STS
24androstenediol4410.6STS, ARSH
25dhea4410.6ARSH, ARSA, STS
26ganglioside4410.6ARSA, PSAP, HEXA
27n-acetylglucosamine4410.5ARSA, HEXA, HSPD1
28nomegestrol acetate4410.5ARSH, STS
29glycosphingolipid4410.5ARSA, PSAP
30estrone44 28 11 2413.4STS, ARSA, ARSH
31cholesterol44 28 11 2413.3HSPD1, PSAP, ARSH, STS, PLP1
32oligonucleotide4410.1PLP1, TREX1, STS, ARSA, PSAP

GO Terms for genes affiliated with Leukodystrophy

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16Gene Ontology
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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, EIF2B2, EIF2B5
2response to peptide hormone stimulusGO:04343410.7EIF2B3, EIF2B5, EIF2B2
3myelinationGO:04255210.7HEXA, EIF2B2, EIF2B5
4cell deathGO:00821910.7HEXA, FA2H, TREX1, GJC2, PLP1
5sphingolipid metabolic processGO:00666510.7ARSA, PSAP, GALC, ARSH, HEXA, STS
6glycosphingolipid metabolic processGO:00668710.7SUMF1, STS, ARSA, GALC, PSAP, HEXA
7response to heatGO:00940810.7EIF2B3, EIF2B5, EIF2B2
8cellular response to stimulusGO:05171610.7EIF2B2, EIF2B3
9cellular protein metabolic processGO:04426710.7ARSH, ARSA, STS, SUMF1, EIF2B3, EIF2B5
10negative regulation of translational initiation in response to stressGO:03205710.7EIF2B5, EIF2B3
11response to glucose stimulusGO:00974910.6EIF2B2, EIF2B5, EIF2B3
12post-translational protein modificationGO:04368710.6ARSH, ARSA, SUMF1, STS
13positive regulation of type I interferon productionGO:03248110.6POLR3B, POLR3A, TREX1
14small molecule metabolic processGO:04428110.5PSAP, ARSH, HEXA, ARSA, STS, SUMF1
15gene expressionGO:01046710.5EIF2B5, POLR3B, EIF2B3, EIF2B2, POLR3A
16positive regulation of interferon-beta productionGO:03272810.4POLR3A, POLR3B
17translational initiationGO:00641310.4EIF2B2, EIF2B5, EIF2B3
18termination of RNA polymerase III transcriptionGO:00638610.3POLR3B, POLR3A
19transcription elongation from RNA polymerase III promoterGO:00638510.1POLR3B, POLR3A

Molecular functions related to Leukodystrophy according to GeneCards/GeneDecks:

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

Products for genes affiliated with Leukodystrophy

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Sources for Leukodystrophy

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3CDC
13ExPASy
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
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40NDF-RT
43NINDS
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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