MLD
MCID: MTC003
MIFTS: 75

Metachromatic Leukodystrophy (MLD) malady

Neuronal, Eye, Metabolic categories

Summaries for Metachromatic Leukodystrophy

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: 5/19/2011

MalaCards: Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to krabbe disease and fucosidosis, and has symptoms including autosomal recessive inheritance, motor deficit/trouble and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Metachromatic Leukodystrophy is ARSA (arylsulfatase A), and among its related pathways are CS/DS degradation and A tetrasaccharide linker sequence is required for GAG synthesis. The compounds p-nitrocatechol sulfate and 4-methylumbelliferyl-beta-d-glucoside have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

NINDS:44 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:64 Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) is a lysosomal storage... more...

Description from OMIM:47 250100,156310,249900

GeneReviews summary for mld

Aliases & Classifications for Metachromatic Leukodystrophy

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Metabolic


Characteristics (Orphanet epidemiological data):

49
metachromatic leukodystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable


Aliases & Descriptions:

metachromatic leukodystrophy 8 9 19 43 21 44 47 10 49 31
arylsulfatase a deficiency 8 19 43 49 61
leukodystrophy metachromatic 43 22 45
arsa deficiency 19 43 21
sulfatide lipidosis 8 21
arylsulfatase a 9 20
sulfatidosis 21 61
mld 21 49
cerebral sclerosis, diffuse, metachromatic form 21
cerebral sclerosis diffuse metachromatic form 43
cerebroside sulphatase deficiency disease 21
metachromatic leukodystrophy, infant 61
deficiency of cerebroside-sulfatase 8
arylsulfatase a deficiency disease 21
metachromatic leukoencephalopathy 21
cerebroside sulfatase deficiency 43
leukodystrophy, metachromatic 61
metachromatic leucodystrophy 8
scholz cerebral sclerosis 8
sulfatide lipoidosis 8
greenfield disease 21


External Ids:

Disease Ontology8 DOID:10581
MeSH35 D007966
NCIt40 C61251
MESH via Orphanet36 C538597, D007966
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 238031009, 396338004
UMLS via Orphanet62 C0023522, C2713319

Related Diseases for Metachromatic Leukodystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1krabbe disease30.8ARSA, GALC, PSAP
2fucosidosis30.6HEXA
3mucosulfatidosis30.5ARSH, ARSB, ARSA, STS, SUMF1
4gaucher's disease30.2PSAP
5cerebral lipidosis30.2ARSA
6sphingolipidosis30.2ARSA, GALC, PSAP
7sandhoff disease30.2HEXA, ARSA
8tay-sachs disease30.0HEXA, PSAP
9mucolipidosis ii30.0PSAP, ARSH
10metachromatic leukodystrophy, late infantile form10.7
11metachromatic leukodystrophy, adult form10.6
12metachromatic leukodystrophy, juvenile form10.6
13gallbladder papillomatosis10.5
14adrenoleukodystrophy10.5
15metachromatic leukodystrophy due to saposin b deficiency10.5
16protein s deficiency10.4
17metachromatic leukodystrophy due to sap-b deficiency10.3
18lip disease10.3
19hematopoietic stem cell transplantation10.3
20spastic quadriplegia10.2
21autoimmune thyroiditis10.2
22quadriplegia10.2
23aspartylglucosaminuria10.2
24refsum disease10.2
25conduct disorder10.2
26wilson disease10.2
27fabry disease10.2
28renal tubular acidosis10.2
29n syndrome10.2
30cholelithiasis10.2
31t cell deficiency10.2
32thyroiditis10.2
33neurologic diseases10.2
34ataxia10.2
35sneddon syndrome10.0
36relapsing-remitting multiple sclerosis10.0
37turner syndrome10.0
38mucolipidosis iv10.0
39gm1 gangliosidosis type 310.0
40sialidosis type i10.0
41mucolipidosis10.0ARSA
42tuberculosis10.0ARSH
43niemann–pick disease10.0HEXA
44gastric dilatation10.0ARSD
45mucopolysaccharidosis i10.0IDUA, ARSH
46farber lipogranulomatosis10.0PSAP
47mucopolysaccharidosis iii10.0SGSH, ARSH
48leukodystrophy10.0PSAP, GALC, ARSH
49gangliosidosis gm110.0HEXA, PSAP, ARSA
50dysostosis10.0STS, ARSA

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



Diseases related to metachromatic leukodystrophy

Clinical Features for Metachromatic Leukodystrophy

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

250100,156310,249900

Clinical synopsis from OMIM:

250100

Symptoms:

49 (show all 26)
  • autosomal recessive inheritance
  • motor deficit/trouble
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • nystagmus
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autosomal dominant inheritance
  • hypotonia
  • psychic/psychomotor regression/dementia/intellectual decline
  • muscle weakness/flaccidity
  • psychic/behavioural troubles
  • restricted joint mobility/joint stiffness/ankylosis
  • nerve conduction abnormality
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • obnubilation/coma/lethargia/desorientation
  • peripheral neuropathy
  • lipidosis/sulfatidosis
  • genu recurvatum
  • areflexia/hyporeflexia
  • transient amaurosis/acute visual trouble
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • muscle anomalies

Drugs & Therapeutics for Metachromatic Leukodystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Metachromatic Leukodystrophy

Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy

Search NIH Clinical Center for Metachromatic Leukodystrophy

Search CenterWatch 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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Metachromatic Leukodystrophy:

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

Anatomical Context for Metachromatic Leukodystrophy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Metachromatic Leukodystrophy:

33
Skin, Liver, Spinal cord, Brain, Kidney, Bone marrow, Cerebellum, Retina, Skeletal muscle, Small intestine, Thyroid, T cells, B cells, Fetal brain, Fetal liver, Fetal thyroid

Animal Models for Metachromatic Leukodystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Metachromatic Leukodystrophy

Sources:
51PubMed
See all sources

Articles related to Metachromatic Leukodystrophy:

(show top 50)    (show all 502)
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
Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort. (22941383)
2013
3
A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy. (24411407)
2013
4
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. (22642214)
2012
5
Developing treatment options for metachromatic leukodystrophy. (22078456)
2012
6
Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia. (19453595)
2009
7
Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition. (20446223)
2009
8
Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy. (18768108)
2009
9
Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. (18166768)
2008
10
A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy. (18832844)
2008
11
Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy. (17569945)
2007
12
A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy. (17204333)
2007
13
Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy. (17660863)
2007
14
Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. (15952986)
2005
15
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. (11231629)
2001
16
A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). (10682309)
2000
17
Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations. (9819708)
1998
18
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. (8962139)
1996
19
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. (7825603)
1995
20
Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers. (7915220)
1994
21
High residual arylsulfatase A (ARSA) activity in a patient with late- infantile metachromatic leukodystrophy. (8101038)
1993
22
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. (8455580)
1993
23
Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo. (7908027)
1993
24
Adult metachromatic leukodystrophy and pes cavus foot deformity. (1891003)
1991
25
Molecular genetics of metachromatic leukodystrophy. (1687778)
1991
26
An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. (1671769)
1991
27
Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy. (1976756)
1990
28
Colorimetric determination of sulphatide in cultured fibroblasts from patients with various types of metachromatic leukodystrophy after sulphatide loading test. (2122087)
1990
29
Metachromatic leukodystrophy in Greece: observations on 4 cases. (1967990)
1990
30
Detection of arylsulfatase A in leukocytes and urines of late infantile metachromatic leukodystrophy. Report of 3 cases. (2907984)
1988
31
CT and MRI in late-onset metachromatic leukodystrophy. (3577670)
1987
32
Analysis of fatty acids and sphingosines from urinary sulfatides in a patient with metachromatic leukodystrophy by gas chromatography-mass spectrometry. (3832951)
1985
33
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells. (6137815)
1983
34
Metachromatic leukodystrophy (MLD). XV. Adult MLD with focal lesions by computed tomography. (6847441)
1983
35
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy. (6137805)
1983
36
Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. (6806321)
1982
37
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts. (6108562)
1980
38
Arylsulphatase A and B in juvenile metachromatic leukodystrophy. (43201)
1979
39
Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy. (25315)
1978
40
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
41
Inclusions in the sural nerve in metachromatic leukodystrophy. (1244002)
1975
42
Prenatal metachromatic leukodystrophy. (239916)
1975
43
Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases. (4281441)
1974
44
Primary enzyme immunoassay (PEIA): studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase-A). (4128980)
1973
45
Metachromatic leukodystrophy: ambiguity of heterozygote identification. (4706397)
1973
46
The late form of metachromatic leukodystrophy. I. A histochemical and neurochemical study. (4117555)
1972
47
Correction of abnormal cerebroside sulfate metabolism in cultured metachromatic leukodystrophy fibroblasts. (5576165)
1971
48
Studies on cerebral lipidosis. Enzymatic diagnosis of metachromatic leukodystrophy. (4993715)
1970
49
Studies on adult metachromatic leukodystrophy. 1. Clinical, morphological and histochemical observations in two cases. (4189441)
1969
50
Metachromatic leukodystrophy. A cause of cholelithiasis in childhood. (5805232)
1969

Genetic Variations for Metachromatic Leukodystrophy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Metachromatic Leukodystrophy:

63 (show all 97)
id Symbol AA change Variation 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

Expression for genes affiliated with Metachromatic Leukodystrophy

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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ARSB, HEXA, IDUA
2
Hide members
9.7ARSB, HEXA, IDUA
39.5ARSD, ARSE, STS
49.2IDUA, HEXA, GALNS, ARSB, SGSH
5
Hide members
9.2SGSH, ARSB, GALNS, HEXA, IDUA
6
Hide members
8.6SUMF1, STS, ARSA, ARSB, ARSE, ARSD
78.5GALNS, GALC, PSAP, HEXA, IDUA, ARSB
8
Hide members
8.4ARSH, ARSD, ARSE, ARSB, ARSA, STS
9
Hide members
7.4SUMF1, STS, UGT8, ARSA, ARSB, ARSE
10
Hide members
6.9GAL3ST1, GALNS, GALC, PSAP, HEXA, IDUA

Compounds for genes affiliated with Metachromatic Leukodystrophy

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB, 24HMDB
See all sources

Compounds related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1p-nitrocatechol sulfate4510.5ARSH, ARSA
24-methylumbelliferyl-beta-d-glucoside4510.5PSAP, GALC
34-methylumbelliferyl sulfate4510.3ARSH, STS
4estradiol sulfate4510.3ARSH, STS
5medrogestone4510.3ARSH, STS
6estrone-3-o-sulfamate4510.3ARSH, STS
7glycosphingolipid4510.3PSAP, ARSA, UGT8
8norelgestromin45 1111.3STS, ARSH
9pregnenolone sulfate4510.3STS, ARSH
10dydrogesterone29 45 1112.3STS, ARSH
11n-acetylgalactosamine 6-sulfate4510.3ARSA, ARSH, GALNS
12promegestone45 2911.3ARSH, STS
13androstenediol4510.2ARSH, STS
14p-chloroamphetamine4510.2HTR1A, SLC6A3
15carbon-114510.2HTR1A, SLC6A3
16milnacipran45 50 1112.2HTR1A, SLC6A3
17raclopride45 2911.2SLC6A3, HTR1A
18psychosine4510.2PSAP, GALC, GAL3ST1
19glucuronic acid4510.1HEXA, GALNS, ARSH
20mdma4510.1HTR1A, SLC6A3
21lactosylceramide4510.1PSAP, GAL3ST1, UGT8
22ganglioside4510.1ARSA, PSAP, HEXA, IDUA
23escitalopram45 50 11 2413.1SLC6A3, HTR1A
24nomegestrol acetate4510.1ARSH, STS
25piperazine45 1111.1HTR1A, SLC6A3
26dhea4510.1STS, ARSA, ARSH
27formylglycine4510.1ARSH, ARSB, ARSA, SUMF1
28dermatan sulfate4510.0IDUA, GALNS, ARSB
29galactosylceramide4510.0ARSA, GAL3ST1, GALC, PSAP
30n-acetylglucosamine4510.0HEXA, ARSB, ARSA
31maoa459.9SLC6A3, HTR1A
32chondroitin sulfate45 2410.9ARSB, ARSH, GALNS
33mannose459.9IDUA, HEXA, ARSB, ARSA
34nefazodone45 50 1111.8SLC6A3, HTR1A
35sulfatide459.8PSAP, GAL3ST1, ARSH, ARSA, UGT8
36estrone sulfate45 2410.7STS, ARSE, ARSD, ARSH
37mucopolysaccharide459.7IDUA, ARSH, ARSB, ARSA, STS
38glycolipid459.7HEXA, PSAP, GALC, GAL3ST1, UGT8
39heparan sulfate45 2410.6IDUA, HEXA, GALNS, ARSH, ARSA, SGSH
40trimipramine50 45 1111.6SLC6A3, HTR1A
41mannose 6-phosphate45 2410.6IDUA, HEXA, PSAP, GALC, ARSB, ARSA
42glycosaminoglycan459.6IDUA, GALNS, ARSH, ARSB, ARSA, SGSH
43estrone45 29 11 2412.3ARSH, ARSD, ARSE, ARSB, ARSA, STS
44steroid459.3ARSH, ARSE, ARSB, ARSA, STS
45cerebroside459.1HEXA, GAL3ST1, ARSH, ARSB, ARSA, UGT8
46cysteine458.9PSAP, GALNS, ARSH, ARSB, ARSA, STS
47serine458.8HEXA, PSAP, GALNS, ARSH, ARSA, STS
48lipid458.8HEXA, PSAP, GALC, ARSH, ARSB, ARSA
49sulfate45 249.7STS, IDUA, PSAP, GALNS, ARSH, ARSD
50calcium45 50 11 2411.3PSAP, GALNS, ARSH, ARSD, ARSE, ARSB

GO Terms for genes affiliated with Metachromatic Leukodystrophy

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.0STS, ARSA, ARSB, ARSD, GALC
2lysosomal lumenGO:0432028.6SGSH, IDUA, HEXA, PSAP, GALC, GALNS
3endoplasmic reticulum lumenGO:0057888.3ARSH, ARSD, ARSE, ARSB, ARSA, STS

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1galactosylceramide biosynthetic processGO:00668210.0UGT8, GAL3ST1
2regulation of dopamine metabolic processGO:0420539.9SLC6A3, HTR1A
3chondroitin sulfate catabolic processGO:0302079.9IDUA, HEXA, ARSB
4protein N-linked glycosylationGO:0064879.9MAN1B1, GAL3ST1
5lysosome organizationGO:0070409.9IDUA, HEXA, ARSB
6keratan sulfate catabolic processGO:0423409.8GALNS, HEXA
7chondroitin sulfate metabolic processGO:0302049.8IDUA, HEXA, ARSB
8myelinationGO:0425529.8MAL, GAL3ST1, HEXA
9glycosaminoglycan metabolic processGO:0302039.5IDUA, HEXA, GALNS, ARSB, SGSH
10central nervous system developmentGO:0074179.4ARSB, UGT8, MAL
11carbohydrate metabolic processGO:0059759.2SGSH, ARSB, GALNS, GALC, HEXA, IDUA
12post-translational protein modificationGO:0436878.7ARSH, ARSD, ARSE, ARSB, ARSA, STS
13cellular protein metabolic processGO:0442678.7ARSH, ARSD, ARSE, ARSB, ARSA, STS
14sphingolipid metabolic processGO:0066657.9SUMF1, HEXA, STS, ARSA, ARSB, ARSE
15glycosphingolipid metabolic processGO:0066877.9ARSA, ARSB, ARSE, ARSD, ARSH, GAL3ST1
16small molecule metabolic processGO:0442817.2GAL3ST1, GALNS, GALC, PSAP, HEXA, IDUA

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

idNameGO IDScoreTop Affiliating Genes
1N-acetylgalactosamine-4-sulfatase activityGO:0039439.6GALNS, ARSB
2sulfuric ester hydrolase activityGO:0084849.4GALNS, ARSA, STS, SGSH
3arylsulfatase activityGO:0040659.2ARSA, ARSB, ARSE, ARSD, ARSH
4metal ion bindingGO:0468728.3SUMF1, SGSH, STS, ARSB, ARSE, ARSD

Products for genes affiliated with Metachromatic Leukodystrophy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachromatic 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