MCID: LKD001
MIFTS: 51

Leukodystrophy malady

Rare diseases, Neuronal diseases categories
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Summaries for Leukodystrophy

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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 based summary: 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 Lysosome and Sphingolipid metabolism. The compounds 4-methylumbelliferyl-beta-d-glucoside and psychosine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related mouse phenotypes are vision/eye and behavior/neurological.

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:65 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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Leukodystrophy, Aliases & Descriptions:

Name: Leukodystrophy 8 19 42 43 10 44 62
 
Leukodystrophies 65 33 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology8 DOID:10579
ICD9CM27 330.0
NCIt39 C61253

Related Diseases for Leukodystrophy

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1metachromatic leukodystrophy31.7ARSA, GALC, PSAP
2krabbe disease31.0PSAP, GALC, ARSA
3gangliosidosis30.1GALC, PSAP
4tay-sachs disease30.0ARSA, PSAP
5demyelinating disease29.8ARSA, GALC
6sphingolipidosis29.7PSAP, GALC, ARSA
7lysosomal storage disease29.6PSAP, GALC, ARSA
8pol iii-related leukodystrophies10.7
9alexander disease10.6
10retinal vasculopathy with cerebral leukodystrophy10.5
11adrenoleukodystrophy10.4
12pelizaeus-merzbacher disease10.4
13cerebritis10.4
14canavan disease10.4
15hypomyelination with atrophy of basal ganglia and cerebellum10.4
16ataxia10.4
17dementia10.3
18neuropathy10.3
19hereditary diffuse leukoencephalopathy with spheroids10.3
20metachromatic leukodystrophy due to saposin b deficiency10.3
21neuronitis10.3
22leukodystrophy, adult-onset, autosomal dominant10.3
23megalencephalic leukoencephalopathy with subcortical cysts10.3
24leukodystrophy, hypomyelinating 310.3
25multiple sclerosis10.2
26peripheral neuropathy10.2
27spasticity10.2
28metachromatic leukodystrophy due to sap-b deficiency10.2
29gaucher's disease10.2PSAP
30fucosidosis10.2
31childhood ataxia with central nervous system hypomyelination/vanishing white matter10.2
32spastic paraparesis10.2
33leukodystrophy, hypomyelinating, 210.2
34leigh syndrome with leukodystrophy10.2
35hydrocephalus10.1
36zellweger syndrome10.1
37acute disseminated encephalomyelitis10.1
38nervous system disease10.1
39retinitis10.1
40hypomyelination and congenital cataract10.1
41leukodystrophy with oligodontia10.1
42leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia10.1
43mitochondrial complex i deficiency10.1
44megalencephaly10.1
45tremor10.1
46leukodystrophy, hypomyelinating, 410.1
47bipolar disorder10.0
48cerebellar ataxia10.0
49hematopoietic stem cell transplantation10.0
50mannosidosis10.0

Graphical network of the top 20 diseases related to Leukodystrophy:



Diseases related to leukodystrophy

Symptoms for Leukodystrophy

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Drugs & Therapeutics for Leukodystrophy

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Drug clinical trials:

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Search NIH Clinical Center for Leukodystrophy

Genetic Tests for Leukodystrophy

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Anatomical Context for Leukodystrophy

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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:00053918.9GALC, GJC2, PSAP, FA2H
2MP:00053867.8FA2H, PSAP, GJC2, GALC, ARSA
3MP:00036317.6ARSA, GALC, GJC2, PSAP, FA2H, LMNB1

Publications for Leukodystrophy

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Articles related to Leukodystrophy:

(show top 50)    (show all 803)
idTitleAuthorsYear
1
Novel (ovario) leukodystrophy related to AARS2 mutations. (24808023)
2014
2
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. (24698313)
2014
3
The Complementary Role of the Kinect Virtual Reality Game Training in a Patient With Metachromatic Leukodystrophy. (24412636)
2014
4
National variation in costs and mortality for leukodystrophy patients in US children's hospitals. (23953952)
2013
5
Gallbladder polyposis in metachromatic leukodystrophy. (23052730)
2013
6
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. (22642214)
2012
7
Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. (21909802)
2012
8
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. (22972948)
2012
9
Vanishing white matter disease: a stress-related leukodystrophy]. (21503715)
2011
10
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? (21695197)
2011
11
Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy. (21389217)
2011
12
Biochemical profiling to predict disease severity in metachromatic leukodystrophy. (19815439)
2010
13
Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. (20816241)
2010
14
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009
15
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. (19174759)
2009
16
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. (17715338)
2007
17
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. (17093507)
2007
18
Molecular beacon genotyping for globoid cell leukodystrophy from hair roots in the twitcher mouse and rhesus macaque. (17412425)
2007
19
Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy. (17403939)
2007
20
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (17347913)
2007
21
Peripheral neuropathy in a child with Cree leukodystrophy. (17641267)
2007
22
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. (17728461)
2007
23
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. (16966551)
2006
24
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. (16041584)
2005
25
Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy. (15707574)
2005
26
Multifocal slowing of nerve conduction in metachromatic leukodystrophy. (15052618)
2004
27
The effect of genotype on the natural history of eIF2B-related leukodystrophies. (15136673)
2004
28
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. (15085191)
2004
29
Establishment and characterization of spontaneously immortalized Schwann cells from murine model of globoid cell leukodystrophy (twitcher). (12111848)
2002
30
Immunohistological study of globoid cell leukodystrophy. (12142065)
2002
31
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI. (11897250)
2002
32
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. (10751093)
2000
33
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. (10546790)
1999
34
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. (9628190)
1998
35
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. (9545360)
1998
36
Association of Krabbe leukodystrophy and congenital fiber type disproportion. (8858709)
1996
37
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. (8891236)
1996
38
Juvenile Krabbe's Leukodystrophy precipitated by influenza A infection. (8698154)
1996
39
Pathological case of the month. Globoid cell leukodystrophy (Krabbe's disease). (7550826)
1995
40
Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. (1967188)
1990
41
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. (6136972)
1983
42
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells. (6137815)
1983
43
Kearns-Sayre syndrome. A case of the complete syndrome with encephalic leukodystrophy and calcification of basal ganglia. (7341548)
1981
44
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis. (40713)
1979
45
Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis. (403037)
1977
46
Steroid sulfatase in brain: comparison of sulfohydrolase activities for various steroid sulfates in normal and pathological brains, including the various forms of metachromatic leukodystrophy. (12249)
1976
47
The nature of the residual arylsulfatase activity in metachromatic leukodystrophy. (1127527)
1975
48
Primary enzyme immunoassay (PEIA): studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase-A). (4128980)
1973
49
Metachromatic leukodystrophy in the adult. A biochemical study. (5062266)
1972
50
Infantile metachromatic leukodystrophy. (4192207)
1970

Variations for Leukodystrophy

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Expression for genes affiliated with Leukodystrophy

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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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Pathways related to Leukodystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0ARSA, GALC, PSAP
2
Show member pathways
9.0ARSA, GALC, PSAP

Compounds for genes affiliated with Leukodystrophy

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Sources:
44Novoseek, 24HMDB
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Compounds related to Leukodystrophy according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
14-methylumbelliferyl-beta-d-glucoside4410.1GALC, PSAP
2psychosine4410.1PSAP, GALC
3glycolipid4410.0PSAP, GALC
4sulfatide449.6ARSA, PSAP
5glycosphingolipid449.6ARSA, PSAP
6glucosylceramide44 2410.5GALC, PSAP
7Galactosylceramide (d18:1/26:1(17Z))249.5GALC, ARSA
8Galactosylceramide (d18:1/24:1(15Z))249.5GALC, ARSA
9Galactosylceramide (d18:1/22:0)249.5GALC, ARSA
10Galactosylceramide (d18:1/20:0)249.4GALC, ARSA
11Galactosylceramide (d18:1/16:0)249.4ARSA, GALC
12ganglioside449.3ARSA, PSAP
13Galactosylceramide (d18:1/18:0)249.3ARSA, GALC
14galactosylceramide449.3ARSA, GALC, PSAP
153-O-Sulfogalactosylceramide (d18:1/24:0)249.3ARSA, GALC, PSAP
16mannose 6-phosphate44 2410.3ARSA, GALC, PSAP
17Galactosylceramide (d18:1/18:1(9Z))249.2ARSA, GALC

GO Terms for genes affiliated with Leukodystrophy

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Cellular components related to Leukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:0432099.3GJC2, TUBB4A
2lysosomal lumenGO:0432028.7ARSA, GALC, PSAP

Biological processes related to Leukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:0066878.7PSAP, GALC, ARSA
2cellular protein metabolic processGO:0442678.5ARSA, EIF2B3, TUBB4A
3sphingolipid metabolic processGO:0066658.5ARSA, GALC, PSAP, FA2H

Products for genes affiliated with Leukodystrophy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Leukodystrophy

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet