MLD
MCID: MTC003
MIFTS: 83

Metachromatic Leukodystrophy (MLD) malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases categories
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Summaries for Metachromatic Leukodystrophy

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NIH Rare Diseases:42 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 leukodystrophy and krabbe disease, and has symptoms including An important gene associated with Metachromatic Leukodystrophy is ARSA (arylsulfatase A), and among its related pathways are Glycosaminoglycan degradation and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. The compounds p-nitrocatechol sulfate and glycosphingolipid have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

Disease Ontology:8 A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.

NINDS:43 Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. These diseases impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of a mixture of fats and proteins.

Genetics Home Reference:21 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).

Wikipedia:65 Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage... more...

Descriptions from OMIM:46 249900,250100

GeneReviews summary for mld

Aliases & Classifications for Metachromatic Leukodystrophy

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Metachromatic Leukodystrophy, Aliases & Descriptions:

Name: Metachromatic Leukodystrophy 30 8 9 19 42 21 43 46 10
Arylsulfatase a Deficiency 8 19 42 62
Metachromatic Leukoencephalopathy 42 21 62
Leukodystrophy Metachromatic 42 22 44
Arsa Deficiency 19 42 21
Mld 8 42 21
Cerebroside Sulphatase Deficiency Disease 21 62
Deficiency of Cerebroside-Sulfatase 8 62
Arylsulfatase a Deficiency Disease 21 62
Cerebroside Sulfatase Deficiency 42 62
 
Sulfatide Lipidosis 42 21
Arylsulfatase a 9 20
Sulfatidosis 21 62
Cerebral Sclerosis, Diffuse, Metachromatic Form 21
Cerebral Sclerosis Diffuse Metachromatic Form 42
Metachromatic Leukodystrophy, Infant 62
Leukodystrophy, Metachromatic 62
Scholz Cerebral Sclerosis 8
Sulfatide Lipoidosis 8
Greenfield Disease 21


Classifications:



External Ids:

Disease Ontology8 DOID:10581
MeSH34 D007966
ICD9CM27 330.0
NCIt39 C61251

Related Diseases for Metachromatic Leukodystrophy

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

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy32.9GALC, PSAP, ARSH
2krabbe disease31.3GALC, PSAP, ARSA
3tay-sachs disease31.2PSAP, ARSA
4gangliosidosis30.9GALC, PSAP
5pervasive developmental disorder30.8SLC6A4
6sphingolipidosis30.8GALC, PSAP, ARSA
7dementia30.8ARSA, SLC6A3, HTR1A
8gm1 gangliosidosis type 130.7PSAP, ARSA
9mucolipidosis ii30.7ARSH, PSAP
10fabry disease30.7PSAP, ARSA
11mucosulfatidosis30.6ARSH, ARSA, SUMF1, ARSB
12bipolar disorder30.6HTR1A, SLC6A4
13conduct disorder30.4SLC6A4, SLC6A3
14mucopolysaccharidosis vi30.3ARSH, ARSB, ARSA
15central nervous system disease30.3IDUA, SLC6A3, SLC6A4
16wilson disease30.2SLC6A3, ARSA
17schizophrenia30.2ARSA, SLC6A3, HTR1A, SLC6A4
18mucopolysaccharidosis30.0ARSH, ARSA, ARSB, IDUA, SUMF1
19lysosomal storage disease29.6ARSB, PSAP, ARSA, ARSH, GALC, SUMF1
20neuropathy10.6
21metachromatic leukodystrophy due to saposin b deficiency10.6
22gaucher's disease10.6PSAP
23cerebritis10.6
24mucolipidosis10.5ARSA
25adrenoleukodystrophy10.5
26neuronitis10.5
27peripheral neuropathy10.5
28metachromatic leukodystrophy due to sap-b deficiency10.5
29fucosidosis10.4
30mucopolysaccharidosis i10.4ARSH, IDUA
31alcoholic psychosis10.4SLC6A4
32anxiety disorder10.4SLC6A4
33serotonin syndrome10.4HTR1A
34chondrodysplasia punctata syndrome10.4ARSH, ARSE
35multiple sclerosis10.4
36nervous system disease10.4
37neurologic diseases10.4
38metachromatic leukodystrophy, adult form10.4
39metachromatic leukodystrophy, late infantile form10.4
40metachromatic leukodystrophy, juvenile form10.4
41nicotine dependence10.3SLC6A4
42demyelinating disease10.3ARSA, GALC
43oppositional defiant disorder10.3SLC6A3
44pathological gambling10.3SLC6A3
45premature ejaculation10.2HTR1A, SLC6A4
46endogenous depression10.2HTR1A, SLC6A4
47social phobia10.2HTR1A, SLC6A4
48cerebellar ataxia10.2
49hematopoietic stem cell transplantation10.2
50hydrocephalus10.2

Graphical network of the top 20 diseases related to Metachromatic Leukodystrophy:



Diseases related to metachromatic leukodystrophy

Symptoms for Metachromatic Leukodystrophy

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Symptoms by clinical synopsis from OMIM:

250100

Clinical features from OMIM:

249900,250100

HPO human phenotypes related to Metachromatic Leukodystrophy:

(show all 30)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 urinary incontinence HP:0000020
3 optic atrophy HP:0000648
4 emotional lability HP:0000712
5 hallucinations HP:0000738
6 delusions HP:0000746
7 decreased nerve conduction velocity HP:0000762
8 cholecystitis HP:0001082
9 intellectual disability HP:0001249
10 seizures HP:0001250
11 ataxia HP:0001251
12 muscular hypotonia HP:0001252
13 dysarthria HP:0001260
14 hyporeflexia HP:0001265
15 mental deterioration HP:0001268
16 bulbar palsy HP:0001283
17 gait disturbance HP:0001288
18 dystonia HP:0001332
19 hyperreflexia HP:0001347
20 chorea HP:0002072
21 loss of speech HP:0002371
22 tetraplegia HP:0002445
23 abnormality of the cerebral white matter HP:0002500
24 spastic tetraplegia HP:0002510
25 increased csf protein HP:0002922
26 emg HP:0003445
27 babinski sign HP:0003487
28 gallbladder dysfunction HP:0005609
29 progressive peripheral neuropathy HP:0007133
30 peripheral demyelination HP:0011096

Drugs & Therapeutics for Metachromatic Leukodystrophy

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Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy

Search NIH Clinical Center for Metachromatic Leukodystrophy

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Metachromatic Leukodystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Metachromatic Leukodystrophy

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Genetic tests related to Metachromatic Leukodystrophy:

id Genetic test Affiliating Genes
1 Arylsulfatase a Deficiency20 ARSA
2 Metachromatic Leukodystrophy22

Anatomical Context for Metachromatic Leukodystrophy

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MalaCards organs/tissues related to Metachromatic Leukodystrophy:

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

Animal Models for Metachromatic Leukodystrophy or affiliated genes

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Publications for Metachromatic Leukodystrophy

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Articles related to Metachromatic Leukodystrophy:

(show top 50)    (show all 509)
idTitleAuthorsYear
1
The Complementary Role of the Kinect Virtual Reality Game Training in a Patient With Metachromatic Leukodystrophy. (24412636)
2014
2
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. (24499656)
2014
3
Gallbladder polyposis in metachromatic leukodystrophy. (23052730)
2013
4
Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort. (22941383)
2013
5
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. (22642214)
2012
6
Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects. (23650469)
2012
7
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? (21695197)
2011
8
Biochemical profiling to predict disease severity in metachromatic leukodystrophy. (19815439)
2010
9
Successful treatment of metachromatic leukodystrophy using bone marrow transplantation of HoxB4 overexpressing cells. (20424597)
2010
10
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. (19174759)
2009
11
Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. (18336930)
2008
12
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. (17715338)
2007
13
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. (17093507)
2007
14
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (17347913)
2007
15
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. (17728461)
2007
16
Sedation for children with metachromatic leukodystrophy undergoing MRI. (17184435)
2007
17
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. (16966551)
2006
18
Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy]. (16883521)
2006
19
Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. (16110195)
2005
20
Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy. (15862354)
2005
21
Multifocal slowing of nerve conduction in metachromatic leukodystrophy. (15052618)
2004
22
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. (15085191)
2004
23
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. (10751093)
2000
24
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. (10546790)
1999
25
Metachromatic leukodystrophy: molecular genetics and an animal model. (9728336)
1998
26
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. (8891236)
1996
27
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. (9007312)
1996
28
Ultrastructural study of the retina in late infantile metachromatic leukodystrophy. (1608595)
1992
29
Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. (1967188)
1990
30
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (2302219)
1990
31
Abnormal lipopigments and lysosomal residual bodies in metachromatic leukodystrophy. (2486156)
1989
32
Adult metachromatic leukodystrophy: neurophysiologic findings. (4069371)
1985
33
Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis. (6441775)
1984
34
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. (6136972)
1983
35
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells. (6137815)
1983
36
Biochemical studies of metachromatic leukodystrophy in three siblings. (7124346)
1982
37
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency. (6126151)
1982
38
Metabolism of fatty acid-labeled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients. Use in the prenatal identification of a false positive fetus. (6117597)
1981
39
Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva. (6893741)
1980
40
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis. (40713)
1979
41
Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man. (208495)
1978
42
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
43
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. (8599)
1976
44
The nature of the residual arylsulfatase activity in metachromatic leukodystrophy. (1127527)
1975
45
Inclusions in the sural nerve in metachromatic leukodystrophy. (1244002)
1975
46
Primary enzyme immunoassay (PEIA): studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase-A). (4128980)
1973
47
Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy. (4215475)
1973
48
Metachromatic leukodystrophy in the adult. A biochemical study. (5062266)
1972
49
Infantile metachromatic leukodystrophy. (4192207)
1970
50
Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD). (5514400)
1970

Variations for Metachromatic Leukodystrophy

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UniProtKB/Swiss-Prot genetic disease variations for Metachromatic Leukodystrophy:

64 (show all 97)
id Symbol AA change Variation ID SNP ID
1ARSAp.Pro82LeuVAR_007244rs6151411
2ARSAp.Arg84GlnVAR_007245rs74315458
3ARSAp.Gly86AspVAR_007246rs74315460
4ARSAp.Ser95AsnVAR_007247rs199476363
5ARSAp.Ser96PheVAR_007248rs74315456
6ARSAp.Ser96LeuVAR_007249rs199476371
7ARSAp.Gly99AspVAR_007250rs74315455
8ARSAp.Gly119ArgVAR_007251rs199476364
9ARSAp.Gly122SerVAR_007252rs74315461
10ARSAp.Leu135ProVAR_007253rs121434215
11ARSAp.Pro136LeuVAR_007254rs74315462
12ARSAp.Asp152TyrVAR_007255rs199476365
13ARSAp.Gly154AspVAR_007256rs74315463
14ARSAp.Pro155ArgVAR_007257rs74315464
15ARSAp.Pro167ArgVAR_007258rs74315465
16ARSAp.Asp169AsnVAR_007259rs74315466
17ARSAp.Cys172TyrVAR_007260rs199476381
18ARSAp.Ile179SerVAR_007261rs74315457
19ARSAp.Tyr201CysVAR_007263rs199476345
20ARSAp.Ala212ValVAR_007264rs74315467
21ARSAp.Ala224ValVAR_007265rs74315468
22ARSAp.Pro231ThrVAR_007266rs74315469
23ARSAp.Arg244CysVAR_007267rs74315470
24ARSAp.Arg244HisVAR_007268rs199476366
25ARSAp.Gly245ArgVAR_007269rs74315471
26ARSAp.Ser250TyrVAR_007270rs199476367
27ARSAp.Thr274MetVAR_007271rs74315472
28ARSAp.Arg288CysVAR_007272rs74315473
29ARSAp.Ser295TyrVAR_007273rs74315474
30ARSAp.Gly309SerVAR_007274rs74315459
31ARSAp.Arg311GlnVAR_007275rs199476382
32ARSAp.Ala314ThrVAR_007276rs199476368
33ARSAp.Asp335ValVAR_007277rs74315475
34ARSAp.Lys367AsnVAR_007279rs199476369
35ARSAp.Arg370GlnVAR_007280rs74315477
36ARSAp.Arg370TrpVAR_007281rs74315476
37ARSAp.Pro377LeuVAR_007282rs74315478
38ARSAp.Glu382LysVAR_007283rs74315479
39ARSAp.Arg384CysVAR_007284rs199476370
40ARSAp.Arg390GlnVAR_007285rs199476391
41ARSAp.Arg390TrpVAR_007286rs74315480
42ARSAp.His397TyrVAR_007288rs199476376
43ARSAp.Pro426LeuVAR_007291rs28940893
44ARSAp.Cys300PheVAR_008132rs74315484
45ARSAp.Pro425ThrVAR_008133rs74315485
46ARSAp.Ala18AspVAR_054164rs199476339
47ARSAp.Asp29AsnVAR_054165rs199476346
48ARSAp.Asp30HisVAR_054166rs199476340
49ARSAp.Gly32SerVAR_054167rs199476350
50ARSAp.Leu68ProVAR_054168rs199476351
51ARSAp.Arg84TrpVAR_054169rs199476352
52ARSAp.Pro94AlaVAR_054170rs199476353
53ARSAp.Gly99ValVAR_054171rs74315455
54ARSAp.Pro136SerVAR_054172rs60504011
55ARSAp.Arg143GlyVAR_054174rs199476373
56ARSAp.Pro148LeuVAR_054175rs199476375
57ARSAp.Gln153HisVAR_054176rs199476377
58ARSAp.Pro155LeuVAR_054177rs74315464
59ARSAp.Cys156ArgVAR_054178rs199476348
60ARSAp.Leu181GlnVAR_054179rs199476378
61ARSAp.Gln190HisVAR_054180rs199476372
62ARSAp.Pro191ThrVAR_054181rs199476374
63ARSAp.Ala212ProVAR_054182rs199476341
64ARSAp.Arg217HisVAR_054183rs148403406
65ARSAp.Phe219ValVAR_054184rs199476383
66ARSAp.His227TyrVAR_054185rs199476354
67ARSAp.Phe247SerVAR_054186rs199476384
68ARSAp.Glu253LysVAR_054187rs74315483
69ARSAp.Asp255HisVAR_054188rs80338819
70ARSAp.Asp281TyrVAR_054189rs199476386
71ARSAp.Asn282SerVAR_054190rs199476342
72ARSAp.Thr286ProVAR_054191rs28940894
73ARSAp.Arg288HisVAR_054192rs199476355
74ARSAp.Gly293AspVAR_054193rs199476387
75ARSAp.Gly293SerVAR_054194rs199476349
76ARSAp.Cys294TyrVAR_054195rs199476347
77ARSAp.Leu298SerVAR_054196rs199476389
78ARSAp.Lys302AsnVAR_054197rs199476343
79ARSAp.Tyr306HisVAR_054198rs199476379
80ARSAp.Gly308AspVAR_054199rs199476356
81ARSAp.Gly308ValVAR_054200rs199476356
82ARSAp.Glu312AspVAR_054201rs199476390
83ARSAp.Gly325SerVAR_054202rs148092995
84ARSAp.Thr327IleVAR_054203
85ARSAp.Tyr376AsnVAR_054204rs199476344
86ARSAp.Asp381GluVAR_054205rs6151425
87ARSAp.Thr408IleVAR_054206rs28940895
88ARSAp.Thr409IleVAR_054207rs74315481
89ARSAp.Leu428ProVAR_054208rs199476392
90ARSAp.Tyr429SerVAR_054209rs199476380
91ARSAp.Ala469GlyVAR_054210rs199476385
92ARSAp.Cys489GlyVAR_054211rs199476388
93ARSAp.Leu52ProVAR_067414rs199476357
94ARSAp.His138AspVAR_067415rs199476358
95ARSAp.Thr304MetVAR_067416rs199476359
96ARSAp.Glu307LysVAR_067417rs199476360
97ARSAp.Ser406GlyVAR_067418rs199476361

Clinvar genetic disease variations for Metachromatic Leukodystrophy:

6 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1ARSANM_000487.5(ARSA): c.1178C> G (p.Thr393Ser)single nucleotide variantPathogenicrs743616GRCh37Chr 22, 51064039: 51064039
2ARSANM_000487.5(ARSA): c.1407_1417delCGCAGCTGTGA (p.Ala470Leufs)deletionPathogenicrs80338823GRCh37Chr 22, 51063686: 51063696
3ARSANM_000487.5(ARSA): c.257G> A (p.Arg86Gln)single nucleotide variantPathogenicrs74315458GRCh37Chr 22, 51065802: 51065802
4ARSANM_000487.5(ARSA): c.769G> C (p.Asp257His)single nucleotide variantPathogenicrs80338819GRCh37Chr 22, 51065104: 51065104
5ARSANM_000487.5(ARSA): c.*96A> Gsingle nucleotide variantPathogenicrs6151429GRCh37Chr 22, 51063477: 51063477
6ARSANM_000487.5(ARSA): c.1055A> G (p.Asn352Ser)single nucleotide variantPathogenicrs2071421GRCh37Chr 22, 51064416: 51064416
7ARSANM_000487.5(ARSA): c.465+1G> Asingle nucleotide variantPathogenicrs80338815GRCh37Chr 22, 51065593: 51065593
8ARSANM_000487.5(ARSA): c.1283C> T (p.Pro428Leu)single nucleotide variantPathogenicrs28940893GRCh37Chr 22, 51063820: 51063820
9ARSANM_000487.5(ARSA): c.302G> A (p.Gly101Asp)single nucleotide variantPathogenicrs74315455GRCh37Chr 22, 51065757: 51065757
10ARSANM_000487.5(ARSA): c.293C> T (p.Ser98Phe)single nucleotide variantPathogenicrs74315456GRCh37Chr 22, 51065766: 51065766
11ARSANM_000487.5(ARSA): c.542T> G (p.Ile181Ser)single nucleotide variantPathogenicrs74315457GRCh37Chr 22, 51065404: 51065404
12ARSANM_000487.5(ARSA): c.1210+1G> Asingle nucleotide variantPathogenicrs80338820GRCh37Chr 22, 51064006: 51064006
13ARSANM_000487.5(ARSA): c.370G> A (p.Gly124Ser)single nucleotide variantPathogenicrs74315461GRCh37Chr 22, 51065689: 51065689
14ARSAARSA, 1-BP DEL, 297CdeletionPathogenic
15ARSANM_000487.5(ARSA): c.467G> A (p.Gly156Asp)single nucleotide variantPathogenicrs74315463GRCh37Chr 22, 51065479: 51065479
16ARSANM_000487.5(ARSA): c.506C> G (p.Pro169Arg)single nucleotide variantPathogenicrs74315465GRCh37Chr 22, 51065440: 51065440
17ARSANM_000487.5(ARSA): c.641C> T (p.Ala214Val)single nucleotide variantPathogenicrs74315467GRCh37Chr 22, 51065305: 51065305
18ARSANM_000487.5(ARSA): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs74315468GRCh37Chr 22, 51065269: 51065269
19ARSANM_000487.5(ARSA): c.697C> A (p.Pro233Thr)single nucleotide variantPathogenicrs74315469GRCh37Chr 22, 51065176: 51065176
20ARSANM_000487.5(ARSA): c.736C> T (p.Arg246Cys)single nucleotide variantPathogenicrs74315470GRCh37Chr 22, 51065137: 51065137
21ARSANM_000487.5(ARSA): c.739G> A (p.Gly247Arg)single nucleotide variantPathogenicrs74315471GRCh37Chr 22, 51065134: 51065134
22ARSANM_000487.5(ARSA): c.868C> T (p.Arg290Cys)single nucleotide variantPathogenicrs74315473GRCh37Chr 22, 51064693: 51064693
23ARSANM_000487.5(ARSA): c.1174C> T (p.Arg392Trp)single nucleotide variantPathogenicrs74315480GRCh37Chr 22, 51064043: 51064043
24ARSAARSA, 3-BP DEL, PHE398DELdeletionPathogenic
25ARSANM_000487.5(ARSA): c.1232C> T (p.Thr411Ile)single nucleotide variantPathogenicrs74315481GRCh37Chr 22, 51063871: 51063871

Expression for genes affiliated with Metachromatic Leukodystrophy

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Expression patterns in normal tissues for genes affiliated with Metachromatic Leukodystrophy

Search GEO for disease gene expression data for Metachromatic Leukodystrophy.

Pathways for genes affiliated with Metachromatic Leukodystrophy

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Pathways related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ARSB, IDUA
29.6SLC6A4, HTR1A
3
Show member pathways
Serotonin Transporter Activity37
9.5SLC6A3, SLC6A4
4
Show member pathways
9.3ARSD, ARSE
5
Show member pathways
8.1SUMF1, ARSH, ARSD, ARSB, ARSE, ARSA
6
Show member pathways
8.1SUMF1, ARSH, ARSD, ARSB, ARSE, ARSA
78.1IDUA, SUMF1, PSAP, GALC, CTSL, ARSB
8
Show member pathways
6.8ARSA, UGT8, SUMF1, PSAP, GALC, GAL3ST1
9
Show member pathways
6.5UGT8, IDUA, SUMF1, PSAP, GALC, GAL3ST1

Compounds for genes affiliated with Metachromatic Leukodystrophy

About this section
Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1p-nitrocatechol sulfate4410.3ARSH, ARSA
2glycosphingolipid4410.1PSAP, ARSA, UGT8
3psychosine449.8GALC, PSAP, GAL3ST1
4lactosylceramide449.8UGT8, PSAP, GAL3ST1
5mucopolysaccharide449.8IDUA, ARSA, ARSB, ARSH
6gbr 12935449.8SLC6A3, SLC6A4
7(123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane449.7SLC6A4, SLC6A3
8formylglycine449.7SUMF1, ARSA, ARSB, ARSH
95-methoxy-6-methyl-2-aminoindan449.7SLC6A4, SLC6A3
10glycosaminoglycan449.7IDUA, ARSA, ARSB, ARSH
11galactosylceramide449.6GAL3ST1, GALC, ARSA, PSAP
12p-chlorophenylalanine449.6SLC6A4, HTR1A
13125i449.5SLC6A3, SLC6A4, PSAP
14glycolipid449.5PSAP, UGT8, GAL3ST1, GALC
15carbon-11449.5SLC6A4, HTR1A, SLC6A3
16p-chloroamphetamine449.5SLC6A3, SLC6A4, HTR1A
17milnacipran44 50 1111.5HTR1A, SLC6A3, SLC6A4
18mdma449.5SLC6A3, HTR1A, SLC6A4
19trimipramine44 50 1111.5HTR1A, SLC6A4, SLC6A3
20nefazodone44 50 1111.5SLC6A4, SLC6A3, HTR1A
21maoa449.5HTR1A, SLC6A4, SLC6A3
22escitalopram44 50 24 1112.5SLC6A4, HTR1A, SLC6A3
23sertraline44 28 50 24 1113.5HTR1A, SLC6A3, SLC6A4
24fluvoxamine44 50 1111.5SLC6A3, HTR1A, SLC6A4
25venlafaxine44 50 24 1112.4SLC6A4, SLC6A3, HTR1A
26clomipramine44 50 1111.4SLC6A3, SLC6A4, HTR1A
27nortriptyline50 44 28 1112.4HTR1A, SLC6A3, SLC6A4
28sulfatide449.4ARSH, UGT8, ARSA, PSAP, GAL3ST1
29cerebroside449.3ARSH, ARSA, ARSB, UGT8, GAL3ST1
30paroxetine44 50 28 1112.2SLC6A3, HTR1A, SLC6A4
31estrone sulfate44 2410.2ARSD, ARSH, ARSE
322beta-carbomethoxy-3beta-(4-iodophenyl)tropane449.2SLC6A3, SLC6A4
33heparan sulfate44 2410.2ARSH, IDUA, CTSL, ARSA
34mannose449.1ARSB, ARSA, CTSL, IDUA
35valine449.0SLC6A3, ARSA, PSAP, SLC6A4
36amitriptyline44 28 50 1112.0SLC6A3, SLC6A4, HTR1A
37estrone44 28 24 1111.8ARSA, ARSE, ARSB, ARSD, ARSH
38mannose 6-phosphate44 249.8PSAP, ARSA, ARSB, CTSL, GALC, IDUA
39lipid448.8ARSB, ARSH, GALC, PSAP, UGT8, ARSA
403-O-Sulfogalactosylceramide (d18:1/24:0)248.5ARSA, ARSE, ARSD, GAL3ST1, GALC, PSAP
41Galactosylceramide (d18:1/18:1(9Z))248.4ARSA, ARSE, GAL3ST1, UGT8, ARSD, GALC
42Galactosylceramide (d18:1/20:0)248.4ARSA, GALC, UGT8, GAL3ST1, ARSD, ARSE
43Galactosylceramide (d18:1/18:0)248.4UGT8, GALC, ARSA, ARSE, ARSD, GAL3ST1
44Galactosylceramide (d18:1/16:0)248.4ARSA, ARSE, ARSD, GAL3ST1, GALC, UGT8
45Galactosylceramide (d18:1/22:0)248.4GALC, ARSA, ARSE, ARSD, GAL3ST1, UGT8
46Galactosylceramide (d18:1/24:1(15Z))248.4GAL3ST1, ARSD, ARSE, ARSA, UGT8, GALC
47Galactosylceramide (d18:1/26:1(17Z))248.4UGT8, GALC, GAL3ST1, ARSD, ARSE, ARSA
48Water248.4ARSE, IDUA, GALC, ARSD, ARSB, ARSA
49sulfate44 249.4ARSH, ARSD, IDUA, ARSB, ARSE, PSAP
50cysteine447.9PSAP, SLC6A4, ARSH, ARSB, CTSL, ARSA

GO Terms for genes affiliated with Metachromatic Leukodystrophy

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Cellular components related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432028.4ARSA, ARSB, CTSL, GALC, PSAP, IDUA
2integral component of plasma membraneGO:0058878.3SLC6A3, SLC6A4, GAL3ST1, MAL, HTR1A
3endoplasmic reticulum lumenGO:0057888.0SUMF1, ARSH, ARSD, ARSB, ARSE, ARSA
4lysosomeGO:0057647.8GALC, CTSL, ARSD, ARSB, ARSA

Biological processes related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to methylmercuryGO:05159710.0ARSA, ARSB
2response to pHGO:0092689.9ARSA, ARSB
3galactosylceramide biosynthetic processGO:0066829.9GAL3ST1, UGT8
4chondroitin sulfate catabolic processGO:0302079.8IDUA, ARSB
5regulation of dopamine metabolic processGO:0420539.8SLC6A3, HTR1A
6monoamine transportGO:0158449.7SLC6A3, SLC6A4
7myelinationGO:0425529.7GAL3ST1, MAL
8central nervous system developmentGO:0074179.5UGT8, MAL, ARSB, ARSA
9response to nutrientGO:0075849.5SLC6A4, ARSB, ARSA
10lysosome organizationGO:0070409.5ARSB, IDUA
11vasoconstrictionGO:0423109.5SLC6A4, HTR1A
12post-translational protein modificationGO:0436878.4SUMF1, ARSH, ARSD, ARSB, ARSE, ARSA
13cellular protein metabolic processGO:0442678.4SUMF1, ARSH, ARSD, ARSB, ARSE, ARSA
14sphingolipid metabolic processGO:0066657.4ARSA, SUMF1, ARSE, ARSB, ARSD, ARSH
15glycosphingolipid metabolic processGO:0066877.4SUMF1, PSAP, GALC, GAL3ST1, ARSH, ARSD
16small molecule metabolic processGO:0442817.1IDUA, SUMF1, PSAP, GALC, GAL3ST1, ARSH

Molecular functions related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1monoamine transmembrane transporter activityGO:0085049.5SLC6A3, SLC6A4
2arylsulfatase activityGO:0040658.1ARSA, ARSE, ARSB, ARSD, ARSH

Products for genes affiliated with Metachromatic Leukodystrophy

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  • Antibodies
  • Proteins
  • Lysates

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