MLD
MCID: MTC003
MIFTS: 87

Metachromatic Leukodystrophy (MLD) malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Metachromatic Leukodystrophy

About this section
Sources:
42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: 5/19/2011

MalaCards: Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to leukodystrophy and krabbe disease, and has symptoms including areflexia/hyporeflexia, hypereflexia and restricted joint mobility/joint stiffness/ankylosis. 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 brain, bone and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

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

Description from OMIM:46 250100,156310,249900

GeneReviews summary for mld

Aliases & Classifications for Metachromatic Leukodystrophy

About this section
Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
metachromatic leukodystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable


Aliases & Descriptions:

metachromatic leukodystrophy 8 9 19 42 21 43 46 10 48 30
arylsulfatase a deficiency 8 19 42 48 60
leukodystrophy metachromatic 42 22 44
arsa deficiency 19 42 21
sulfatide lipidosis 8 21
arylsulfatase a 9 20
sulfatidosis 21 60
mld 21 48
cerebral sclerosis, diffuse, metachromatic form 21
cerebral sclerosis diffuse metachromatic form 42
cerebroside sulphatase deficiency disease 21
metachromatic leukodystrophy, infant 60
deficiency of cerebroside-sulfatase 8
arylsulfatase a deficiency disease 21
metachromatic leukoencephalopathy 21
cerebroside sulfatase deficiency 42
leukodystrophy, metachromatic 60
metachromatic leucodystrophy 8
scholz cerebral sclerosis 8
sulfatide lipoidosis 8
greenfield disease 21


External Ids:

Disease Ontology8 DOID:10581
MeSH34 D007966
NCIt39 C61251
SNOMED-CT via Orphanet57 66521008, 238031009, 396338004
MESH via Orphanet35 C538597, D007966
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0023522, C2713319

Related Diseases for Metachromatic Leukodystrophy

About this section
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 87)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy32.2PSAP, GALC, ARSH
2krabbe disease30.6ARSA, GALC, PSAP
3fucosidosis30.5HEXA
4tay-sachs disease30.4HEXA, PSAP
5mucosulfatidosis30.4ARSH, ARSB, ARSA, STS, SUMF1
6cerebral lipidosis30.2ARSA
7sphingolipidosis30.2ARSA, GALC, PSAP
8gangliosidosis30.2HEXA, PSAP, GALC, GALNS
9mucopolysaccharidosis vi29.9ARSA, ARSB, ARSH
10mucopolysaccharidosis29.9IDUA, HEXA, GALNS, ARSH, ARSB, ARSA
11lysosomal storage disease29.9IDUA, HEXA, PSAP, GALC, GALNS, ARSH
12mucolipidosis ii29.9PSAP, ARSH
13dementia10.5
14neuropathy10.5
15gallbladder papillomatosis10.5
16cerebritis10.5
17adrenoleukodystrophy10.4
18neuronitis10.4
19peripheral neuropathy10.4
20metachromatic leukodystrophy due to saposin b deficiency10.4
21nervous system disease10.4
22complement deficiency10.3
23multiple sclerosis10.3
24schizophrenia10.3
25skin disease10.3
26neurologic diseases10.3
27metachromatic leukodystrophy due to sap-b deficiency10.3
28metachromatic leukodystrophy, adult form10.3
29metachromatic leukodystrophy, late infantile form10.3
30metachromatic leukodystrophy, juvenile form10.3
31myopathy10.2
32spastic quadriplegia10.1
33autoimmune thyroiditis10.1
34sly syndrome10.1
35quadriplegia10.1
36aspartylglucosaminuria10.1
37somatization disorder10.1
38conduct disorder10.1
39renal tubular acidosis10.1
40cholelithiasis10.1
41central nervous system disease10.1
42cerebellar ataxia10.1
43cholecystitis10.1
44chromosomal disease10.1
45communicating hydrocephalus10.1
46cranial nerve disease10.1
47hydrocephalus10.1
48learning disability10.1
49peripheral nervous system disease10.1
50polyneuropathy10.1

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



Diseases related to metachromatic leukodystrophy

Clinical Features for Metachromatic Leukodystrophy

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

250100,156310,249900

Clinical synopsis from OMIM:

250100

Symptoms:

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

Drugs & Therapeutics for Metachromatic Leukodystrophy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Metachromatic Leukodystrophy:

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

Animal Models for Metachromatic Leukodystrophy or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4IDUA, HEXA, PSAP, ARSB, ARSA
2MP:00053719.3SUMF1, ARSB, GALC, HEXA, IDUA
3MP:00053829.0IDUA, HEXA, GALC, ARSB, SGSH, SUMF1
4MP:00053679.0IDUA, HEXA, PSAP, GALC, GALNS, ARSB
5MP:00053709.0IDUA, HEXA, PSAP, GALC, SGSH, SUMF1
6MP:00053918.8IDUA, HEXA, PSAP, GALC, GALNS, ARSB
7MP:00053908.5IDUA, HEXA, PSAP, GALC, GALNS, ARSB
8MP:00053768.2IDUA, HEXA, HTR1A, PSAP, GALC, GALNS
9MP:00053867.8GALC, PSAP, HTR1A, HEXA, IDUA, GAL3ST1
10MP:00036317.6SUMF1, IDUA, HEXA, HTR1A, PSAP, GALC

Publications for Metachromatic Leukodystrophy

About this section
Sources:
50PubMed
See all sources

Articles related to Metachromatic Leukodystrophy:

(show top 50)    (show all 502)
idTitleAuthorsYear
1
Gallbladder polyposis in metachromatic leukodystrophy. (23052730)
2013
2
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy. (23622382)
2013
3
Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects. (23650469)
2012
4
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. (19267410)
2009
5
Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. (20446225)
2009
6
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. (19797797)
2009
7
Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. (18830923)
2008
8
Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots. (18957564)
2008
9
Polymorphisms in genes encoding the serotonin and dopamine pathways in two sisters with metachromatic leukodystrophy. (18831910)
2008
10
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (17347913)
2007
11
Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. (17845130)
2007
12
Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. (17890417)
2007
13
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient. (16782379)
2006
14
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy. (16311251)
2006
15
Gene symbol: ARSA. Disease: metachromatic leukodystrophy. (16521253)
2005
16
Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report. (16021442)
2005
17
Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy. (15139291)
2004
18
Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene. (15211666)
2004
19
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. (11941485)
2002
20
Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? (12445909)
2002
21
Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century. (11424134)
2001
22
Dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy. (11173879)
2001
23
Seizures as a presenting feature of late onset metachromatic leukodystrophy. (10987380)
2000
24
A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy. (8982952)
1996
25
Urine sulfatides and the diagnosis of metachromatic leukodystrophy. (8595716)
1996
26
Involvement of the gallbladder in childhood metachromatic leukodystrophy: ultrasonographic findings. (8947856)
1996
27
The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. (7494399)
1995
28
Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)]. (8577048)
1995
29
New sites of ocular involvement in late-infantile metachromatic leukodystrophy revealed by histopathologic studies. (8462893)
1993
30
Bone marrow transplantation for late infantile metachromatic leukodystrophy: pathogenic investigation for graft rejection. (8256624)
1993
31
Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity. (1359786)
1992
32
Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. (1684088)
1991
33
The first Alzheimer disease case: a metachromatic leukodystrophy? (1726217)
1991
34
Molecular basis of different forms of metachromatic leukodystrophy. (1670590)
1991
35
Adult forms of metachromatic leukodystrophy: clinical and biochemical approach. (1687776)
1991
36
Neuropathological and enzymatic studies in a case of adult form of metachromatic leukodystrophy with very late onset of clinical symptoms. (1976290)
1990
37
Papillomatous transformation of the gallbladder in metachromatic leukodystrophy. (2690041)
1989
38
HPLC analysis of urinary sulfatide: an aid in the diagnosis of metachromatic leukodystrophy. (2861921)
1985
39
Metachromatic leukodystrophy manifesting as a schizophrenic disorder: computed tomographic correlation. (4037756)
1985
40
Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis. (6441775)
1984
41
Biochemical studies of metachromatic leukodystrophy in three siblings. (7124346)
1982
42
Adult metachromatic leukodystrophy. (474703)
1979
43
Metachromatic leukodystrophy and age: a comparative study of clinical, enzymological and ultrastructural findings. (45176)
1979
44
Studies in metachromatic leukodystrophy. XIII. Purification of sulfatase A from normal human liver. (7103)
1976
45
Metachromatic leukodystrophy and limb hypertrophy. (1215418)
1975
46
The fatty acid composition of cerebrosides and sulfatides in a case of adult metachromatic leukodystrophy. (4135046)
1974
47
Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD). (5514400)
1970
48
Oral findings in metachromatic leukodystrophy. (5263274)
1970
49
A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state. (5460770)
1970
50
Studies on adult metachromatic leukodystrophy. 2. Biochemical aspects of adult cases of metachromatic leukodystrophy. (5367045)
1969

Genetic Variations for Metachromatic Leukodystrophy

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Metachromatic Leukodystrophy:

62 (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

Expression for genes affiliated with Metachromatic Leukodystrophy

About this section
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

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

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
See all sources

Compounds related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1p-nitrocatechol sulfate4410.5ARSH, ARSA
24-methylumbelliferyl-beta-d-glucoside4410.5PSAP, GALC
3estradiol sulfate4410.3STS, ARSH
44-methylumbelliferyl sulfate4410.3ARSH, STS
5medrogestone4410.3ARSH, STS
6estrone-3-o-sulfamate4410.3STS, ARSH
7glycosphingolipid4410.3UGT8, ARSA, PSAP
8norelgestromin44 1111.3ARSH, STS
9pregnenolone sulfate4410.3STS, ARSH
10dydrogesterone28 44 1112.3ARSH, STS
11n-acetylgalactosamine 6-sulfate4410.3ARSH, ARSA, GALNS
12promegestone44 2811.3ARSH, STS
13androstenediol4410.3ARSH, STS
14p-chloroamphetamine4410.2HTR1A, SLC6A3
15carbon-114410.2HTR1A, SLC6A3
16milnacipran44 49 1112.2HTR1A, SLC6A3
17raclopride44 2811.2HTR1A, SLC6A3
18psychosine4410.2PSAP, GAL3ST1, GALC
19glucuronic acid4410.1HEXA, GALNS, ARSH
20mdma4410.1SLC6A3, HTR1A
21lactosylceramide4410.1GAL3ST1, UGT8, PSAP
22nomegestrol acetate4410.1STS, ARSH
23ganglioside4410.1ARSA, PSAP, IDUA, HEXA
24escitalopram44 49 11 2413.1SLC6A3, HTR1A
25dhea4410.1ARSA, STS, ARSH
26formylglycine4410.1ARSH, ARSB, ARSA, SUMF1
27piperazine44 1111.0SLC6A3, HTR1A
28dermatan sulfate4410.0ARSB, IDUA, GALNS
29galactosylceramide4410.0ARSA, PSAP, GAL3ST1, GALC
30dermatan44 2411.0IDUA, ARSB
31n-acetylglucosamine4410.0ARSA, HEXA, ARSB
32chondroitin sulfate44 2410.9ARSB, ARSH, GALNS
33mannose449.9IDUA, ARSA, ARSB, HEXA
34trimipramine49 44 1111.8HTR1A, SLC6A3
35sulfatide449.8UGT8, ARSH, PSAP, GAL3ST1, ARSA
36estrone sulfate44 2410.7STS, ARSE, ARSD, ARSH
37mucopolysaccharide449.7STS, ARSA, IDUA, ARSB, ARSH
38glycolipid449.7GALC, PSAP, HEXA, GAL3ST1, UGT8
39heparan sulfate44 2410.6IDUA, HEXA, GALNS, ARSH, ARSA, SGSH
40nefazodone44 49 1111.6SLC6A3, HTR1A
41mannose 6-phosphate44 2410.6IDUA, ARSB, GALC, ARSA, PSAP, HEXA
42glycosaminoglycan449.6GALNS, IDUA, SGSH, ARSH, ARSA, ARSB
43estrone44 28 11 2412.3ARSA, STS, ARSD, ARSH, ARSB, ARSE
44steroid449.3ARSH, STS, ARSA, ARSE, ARSB
45cerebroside449.1HEXA, STS, UGT8, ARSA, ARSB, ARSH
46cysteine448.9SUMF1, SLC6A3, STS, ARSB, ARSH, GALNS
47serine448.8ARSA, SLC6A3, HEXA, STS, ARSH, PSAP
48lipid448.8STS, UGT8, ARSB, ARSH, GALC, HEXA
49sulfate44 249.7IDUA, PSAP, GALNS, ARSH, ARSD, ARSE
50calcium44 49 11 2411.3PSAP, SUMF1, SGSH, MAN1B1, ARSB, STS

GO Terms for genes affiliated with Metachromatic Leukodystrophy

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet