MLD
MCID: MTC003
MIFTS: 87

Metachromatic Leukodystrophy (MLD) malady

Neuronal diseases, Eye diseases, Metabolic diseases categories

Summaries for Metachromatic Leukodystrophy

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 5/19/2011

MalaCards: Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to leukodystrophy and krabbe disease, and has symptoms including genu recurvatum, areflexia/hyporeflexia and transient amaurosis/acute visual trouble. 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

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

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17GeneCards, 18GeneDecks
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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

250100,156310,249900

Clinical synopsis from OMIM:

250100

Symptoms:

48 (show all 26)
  • genu recurvatum
  • areflexia/hyporeflexia
  • transient amaurosis/acute visual trouble
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • muscle anomalies
  • lipidosis/sulfatidosis
  • peripheral neuropathy
  • obnubilation/coma/lethargia/desorientation
  • 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
  • autosomal recessive inheritance

Drugs & Therapeutics for Metachromatic Leukodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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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32MalaCards
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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

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36MGI
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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

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50PubMed
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Articles related to Metachromatic Leukodystrophy:

(show top 50)    (show all 502)
idTitleAuthorsYear
1
Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry. (24370383)
2013
2
Intestinal involvement in metachromatic leukodystrophy. (21212458)
2011
3
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy. (20890085)
2010
4
Metachromatic leukodystrophy--an update. (20571983)
2010
5
Adult-type metachromatic leukodystrophy mimicking multiple sclerosis. (19650372)
2009
6
Isolated cranial nerve enhancement in metachromatic leukodystrophy. (19380076)
2009
7
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (18693274)
2008
8
Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13. (18450730)
2008
9
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. (17715338)
2007
10
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. (17093507)
2007
11
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. (17728461)
2007
12
ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. (17560502)
2007
13
Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. (16554462)
2006
14
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
15
Gene symbol: ARSA. Disease: metachromatic leukodystrophy. (16521257)
2005
16
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. (12809637)
2003
17
Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy. (11777924)
2002
18
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. (10751093)
2000
19
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. (10196694)
1999
20
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. (9600244)
1998
21
MR of childhood metachromatic leukodystrophy. (9127040)
1997
22
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. (8723680)
1996
23
Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector. (7584122)
1995
24
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. (7749412)
1995
25
Molecular genetics of metachromatic leukodystrophy. (7967499)
1994
26
Late infantile metachromatic leukodystrophy in Israel. (7858169)
1994
27
Genetics of metachromatic leukodystrophy. (8542433)
1994
28
The differential diagnosis of adult onset metachromatic leukodystrophy and early onset familial Alzheimer disease in an Alzheimer clinic population. (8313247)
1993
29
Polyposis of the gallbladder associated with metachromatic leukodystrophy. (8319717)
1993
30
Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling. (8101704)
1993
31
Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. (7901143)
1993
32
Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. (8095918)
1993
33
Ultrastructural study of the retina in late infantile metachromatic leukodystrophy. (1608595)
1992
34
Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. (1689485)
1990
35
Advances in the molecular genetics of metachromatic leukodystrophy. (1977956)
1990
36
Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy. (2568751)
1989
37
Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy. (3366464)
1988
38
Metachromatic leukodystrophy: conduct disorder progressing to dementia. (3585364)
1987
39
Metabolism of cerebroside sulphate and subcellular distribution of its metabolites in cultured skin fibroblasts derived from controls, metachromatic leukodystrophy, globoid cell leukodystrophy and Farber disease. (3123795)
1987
40
Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy. (7173866)
1982
41
Leukocyte sulfatidase for the reliable diagnosis of metachromatic leukodystrophy. (6109767)
1981
42
Biochemical abnormalities of metachromatic leukodystrophy in an adult psychiatric population. (6117201)
1981
43
Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings. (27578)
1978
44
Adult metachromatic leukodystrophy. (707609)
1978
45
A case of metachromatic leukodystrophy with a chronic course (clinical-morphological-biochemical study). (104190)
1978
46
Monozygotic twins with presumed metachromatic leukodystrophy. Activity of arylsulfatase A in serum of patients and family. (29593)
1978
47
Inheritance of metachromatic leukodystrophy. (930929)
1977
48
Clinical and ultrastructural ocular histopathologic studies of adult-onset metachromatic leukodystrophy. (961798)
1976
49
Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers. (4776531)
1973
50
Metachromatic leukodystrophy. Treatment with arylsulfatase-A. (5818425)
1969

Genetic Variations for Metachromatic Leukodystrophy

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ARSB, HEXA, IDUA
2
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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

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44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
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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
34-methylumbelliferyl sulfate4410.3ARSH, STS
4estradiol sulfate4410.3ARSH, STS
5medrogestone4410.3ARSH, STS
6estrone-3-o-sulfamate4410.3ARSH, STS
7glycosphingolipid4410.3PSAP, ARSA, UGT8
8norelgestromin44 1111.3STS, ARSH
9pregnenolone sulfate4410.3STS, ARSH
10dydrogesterone28 44 1112.3STS, ARSH
11n-acetylgalactosamine 6-sulfate4410.3ARSA, ARSH, GALNS
12promegestone44 2811.3ARSH, STS
13androstenediol4410.2ARSH, STS
14p-chloroamphetamine4410.2HTR1A, SLC6A3
15carbon-114410.2HTR1A, SLC6A3
16milnacipran44 49 1112.2HTR1A, SLC6A3
17raclopride44 2811.2SLC6A3, HTR1A
18psychosine4410.2PSAP, GALC, GAL3ST1
19glucuronic acid4410.1HEXA, GALNS, ARSH
20mdma4410.1HTR1A, SLC6A3
21lactosylceramide4410.1PSAP, GAL3ST1, UGT8
22ganglioside4410.1ARSA, PSAP, HEXA, IDUA
23escitalopram44 49 11 2413.1SLC6A3, HTR1A
24nomegestrol acetate4410.1ARSH, STS
25piperazine44 1111.1HTR1A, SLC6A3
26dhea4410.1STS, ARSA, ARSH
27formylglycine4410.1ARSH, ARSB, ARSA, SUMF1
28dermatan sulfate4410.0IDUA, GALNS, ARSB
29galactosylceramide4410.0ARSA, GAL3ST1, GALC, PSAP
30dermatan44 2411.0ARSB, IDUA
31n-acetylglucosamine4410.0HEXA, ARSB, ARSA
32chondroitin sulfate44 2410.9ARSB, ARSH, GALNS
33mannose449.9IDUA, HEXA, ARSB, ARSA
34nefazodone44 49 1111.8SLC6A3, HTR1A
35sulfatide449.8PSAP, GAL3ST1, ARSH, ARSA, UGT8
36estrone sulfate44 2410.7STS, ARSE, ARSD, ARSH
37mucopolysaccharide449.7IDUA, ARSH, ARSB, ARSA, STS
38glycolipid449.7HEXA, PSAP, GALC, GAL3ST1, UGT8
39heparan sulfate44 2410.6IDUA, HEXA, GALNS, ARSH, ARSA, SGSH
40trimipramine49 44 1111.6SLC6A3, HTR1A
41mannose 6-phosphate44 2410.6IDUA, HEXA, PSAP, GALC, ARSB, ARSA
42glycosaminoglycan449.6IDUA, GALNS, ARSH, ARSB, ARSA, SGSH
43estrone44 28 11 2412.3ARSH, ARSD, ARSE, ARSB, ARSA, STS
44steroid449.3ARSH, ARSE, ARSB, ARSA, STS
45cerebroside449.1HEXA, GAL3ST1, ARSH, ARSB, ARSA, UGT8
46cysteine448.9PSAP, GALNS, ARSH, ARSB, ARSA, STS
47serine448.8HEXA, PSAP, GALNS, ARSH, ARSA, STS
48lipid448.8HEXA, PSAP, GALC, ARSH, ARSB, ARSA
49sulfate44 249.7STS, IDUA, PSAP, GALNS, ARSH, ARSD
50calcium44 49 11 2411.3PSAP, GALNS, ARSH, ARSD, ARSE, ARSB

GO Terms for genes affiliated with Metachromatic Leukodystrophy

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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

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  • 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