MCID: LKD001
MIFTS: 58

Leukodystrophy malady

Summaries for Leukodystrophy

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 63Wikipedia, 33MedlinePlus, 39NCIt, 56SNOMED-CT, 27ICD9CM
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Leukodystrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Leukodystrophy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Leukodystrophy:

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

Animal Models for Leukodystrophy or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Leukodystrophy:

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

Publications for Leukodystrophy

About this section
Sources:
50PubMed
See all sources

Articles related to Leukodystrophy:

(show top 50)    (show all 780)
idTitleAuthorsYear
1
A new analytical bench assay for the determination of arylsulfatase a activity toward galactosyl-3-sulfate ceramide: implication for metachromatic leukodystrophy diagnosis. (24294900)
2014
2
Brain Magnetic Resonance Imaging (MRI) Pattern Recognition in Pol III-Related Leukodystrophies. (24105487)
2014
3
National variation in costs and mortality for leukodystrophy patients in US children's hospitals. (23953952)
2013
4
Gallbladder polyposis in metachromatic leukodystrophy. (23052730)
2013
5
Developing therapeutic approaches for metachromatic leukodystrophy. (23966770)
2013
6
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy. (22854541)
2012
7
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. (22993277)
2012
8
Bone Marrow Transplantation Alters the Tremor Phenotype in the Murine Model of Globoid-Cell Leukodystrophy. (24013457)
2012
9
Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin. (21273400)
2011
10
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. (21698385)
2011
11
Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease. (21049202)
2010
12
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. (20410102)
2010
13
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009
14
Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. (18422757)
2009
15
Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy. (18768108)
2009
16
Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. (18336930)
2008
17
Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction. (17918228)
2008
18
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. (19067349)
2008
19
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. (17728461)
2007
20
A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. (17209980)
2007
21
Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts. (17341424)
2007
22
Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. (16554462)
2006
23
Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). (16759875)
2006
24
Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy. (15862354)
2005
25
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. (15710861)
2005
26
Gene symbol: ARSA. Disease: metachromatic leukodystrophy. (16521259)
2005
27
Sphingolipid profile in the CNS of the twitcher (globoid cell leukodystrophy) mouse: a lipidomics approach. (14528915)
2003
28
Delayed clinical and pathological signs in twitcher (globoid cell leukodystrophy) mice on a C57BL/6 x CAST/Ei background. (12270695)
2002
29
A new familial adult-onset leukodystrophy manifesting as cerebellar ataxia and dementia. (11166794)
2001
30
Adult onset Krabbe's leukodystrophy. (9669479)
1998
31
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. (7825603)
1995
32
Detection of donor lymphocytes in the cerebrospinal fluid of a patient with metachromatic leukodystrophy following bone marrow transplantation. (7742747)
1995
33
Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies. (7474900)
1995
34
A genetic demyelinating disease globoid cell leukodystrophy: studies with animal models. (8021709)
1994
35
Molecular genetics of metachromatic leukodystrophy. (7866401)
1994
36
Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. (8095918)
1993
37
Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of psychosis. (1532712)
1992
38
Longitudinal neurophysiologic studies in a patient with metachromatic leukodystrophy following bone marrow transplantation. (1417517)
1992
39
Advances in the molecular genetics of metachromatic leukodystrophy. (1977956)
1990
40
Metachromatic leukodystrophy: report of four cases. (2908482)
1988
41
Prevention of deterioration in metachromatic leukodystrophy by bone marrow transplantation. (3307409)
1987
42
Ultrastructural study of neurons in metachromatic leukodystrophy. (2826059)
1987
43
Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts. (6144627)
1984
44
Histopathological and ultrastructural study of a case of infantile metachromatic leukodystrophy. (6325371)
1983
45
Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report. (6186781)
1981
46
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. (15452)
1977
47
Prenatal diagnosis of metachromatic leukodystrophy by electrophoretic and immunologic techniques. (20596)
1977
48
Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; observations on kidney biopsy, peripheral nerve and cerebral white matter. (173129)
1975
49
Histochemical and biochemical studies of urinary lipids in metachromatic leukodystrophy and Fabry's disease. (4565559)
1973
50
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency. (4265903)
1973

Genetic Variations for Leukodystrophy

About this section

Expression for genes affiliated with Leukodystrophy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
See all sources

Compounds for genes affiliated with Leukodystrophy

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
See all sources

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

About this section
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:00585110.5EIF2B2, EIF2B5, EIF2B3
2myelin sheathGO:04320910.4PLP1, GJC2
3lysosomal lumenGO:04320210.4ARSA, GALC, PSAP, HEXA
4endoplasmic reticulum lumenGO:00578810.3ARSH, ARSA, STS, SUMF1
5DNA-directed RNA polymerase III complexGO:00566610.1POLR3B, POLR3A

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:03254910.6POLR3B, 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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leukodystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet