MLD
MCID: MTC003
MIFTS: 86

Metachromatic Leukodystrophy (MLD) malady

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

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21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 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 leukodystrophy and krabbe disease, and has symptoms including muscle anomalies, dolichocolon/megacolon/megadolichocolon/hirschsprung's disease and transient amaurosis/acute visual trouble. 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 bone marrow, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

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).

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.

Wikipedia:65 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

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH, 59SNOMED-CT via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

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


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 62
leukodystrophy metachromatic 43 22 45
sulfatide lipidosis 8 43 21
arsa deficiency 19 43 21
mld 43 21 49
metachromatic leukoencephalopathy 43 21
arylsulfatase a 9 20
sulfatidosis 21 62
cerebral sclerosis, diffuse, metachromatic form 21
cerebral sclerosis diffuse metachromatic form 43
cerebroside sulphatase deficiency disease 21
metachromatic leukodystrophy, infant 62
deficiency of cerebroside-sulfatase 8
arylsulfatase a deficiency disease 21
cerebroside sulfatase deficiency 43
leukodystrophy, metachromatic 62
metachromatic leucodystrophy 8
scholz cerebral sclerosis 8
sulfatide lipoidosis 8
greenfield disease 21


External Ids:

Disease Ontology8 DOID:10581
NCIt40 C61251
MeSH35 D007966
SNOMED-CT via Orphanet59 66521008, 238031009, 396338004
MESH via Orphanet36 C538597, D007966
ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 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 105)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy32.4GALC, PSAP, ARSH
2krabbe disease30.9GALC, PSAP, ARSA
3dementia30.8ARSA, SLC6A3, HTR1A
4tay-sachs disease30.7PSAP, ARSA
5mucosulfatidosis30.5ARSH, ARSA, SUMF1, ARSB
6gangliosidosis30.4GALC, PSAP
7schizophrenia30.4ARSA, SLC6A3, HTR1A, SLC6A4
8sphingolipidosis30.4GALC, PSAP, ARSA
9pervasive developmental disorder30.4SLC6A4
10conduct disorder30.3SLC6A4, SLC6A3
11central nervous system disease30.3IDUA, SLC6A3, SLC6A4
12mucolipidosis ii30.2ARSH, PSAP
13fabry disease30.2PSAP, ARSA
14mucopolysaccharidosis vi30.1ARSH, ARSB, ARSA
15wilson disease30.1SLC6A3, ARSA
16mucopolysaccharidosis30.0ARSH, ARSA, ARSB, IDUA, SUMF1
17lysosomal storage disease29.9ARSB, PSAP, ARSA, ARSH, GALC, SUMF1
18neuropathy10.6
19cerebritis10.5
20neuronitis10.5
21adrenoleukodystrophy10.5
22peripheral neuropathy10.5
23metachromatic leukodystrophy due to saposin b deficiency10.5
24fucosidosis10.4
25multiple sclerosis10.3
26nervous system disease10.3
27neurologic diseases10.3
28metachromatic leukodystrophy due to sap-b deficiency10.3
29metachromatic leukodystrophy, adult form10.3
30metachromatic leukodystrophy, late infantile form10.3
31metachromatic leukodystrophy, juvenile form10.3
32myopathy10.3
33ring chromosome 2210.3
34spastic quadriplegia10.2
35cerebral lipidosis10.2
36cholelithiasis10.2
37sly syndrome10.2
38quadriplegia10.2
39aspartylglucosaminuria10.2
40renal tubular acidosis10.2
41cerebellar ataxia10.2
42cholecystitis10.2
43communicating hydrocephalus10.2
44dystonia10.2
45hydrocephalus10.2
46learning disability10.2
47polyneuropathy10.2
48thyroiditis10.2
49pseudoarylsulfatase a deficiency10.2
50ataxia10.2

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



Diseases related to metachromatic leukodystrophy

Symptoms for Metachromatic Leukodystrophy

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

250100

Clinical features from OMIM:

250100,156310,249900

Symptoms:

49 (show all 26)
  • muscle anomalies
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • transient amaurosis/acute visual trouble
  • areflexia/hyporeflexia
  • genu recurvatum
  • 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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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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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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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33MalaCards
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MalaCards organs/tissues related to Metachromatic Leukodystrophy:

33
Brain, Bone, Bone marrow, Skin, Liver, Eye, Testes, Kidney, Retina, Cerebellum, Spinal cord, Thyroid, Skeletal muscle

Animal Models for Metachromatic Leukodystrophy or affiliated genes

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37MGI
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Publications for Metachromatic Leukodystrophy

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52PubMed
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Articles related to Metachromatic Leukodystrophy:

(show top 50)    (show all 497)
idTitleAuthorsYear
1
The Complementary Role of the Kinect Virtual Reality Game Training in a Patient With Metachromatic Leukodystrophy. (24412636)
2014
2
Gallbladder polyposis in metachromatic leukodystrophy. (23052730)
2013
3
Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort. (22941383)
2013
4
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. (22642214)
2012
5
Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects. (23650469)
2012
6
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? (21695197)
2011
7
Biochemical profiling to predict disease severity in metachromatic leukodystrophy. (19815439)
2010
8
Successful treatment of metachromatic leukodystrophy using bone marrow transplantation of HoxB4 overexpressing cells. (20424597)
2010
9
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. (19174759)
2009
10
Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. (18336930)
2008
11
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. (17715338)
2007
12
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. (17093507)
2007
13
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (17347913)
2007
14
Sedation for children with metachromatic leukodystrophy undergoing MRI. (17184435)
2007
15
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. (16966551)
2006
16
Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy]. (16883521)
2006
17
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
18
Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy. (15862354)
2005
19
Multifocal slowing of nerve conduction in metachromatic leukodystrophy. (15052618)
2004
20
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. (15085191)
2004
21
Metachromatic leukodystrophy: recent research developments. (14572136)
2003
22
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. (10751093)
2000
23
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. (10546790)
1999
24
Metachromatic leukodystrophy: molecular genetics and an animal model. (9728336)
1998
25
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. (8891236)
1996
26
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. (9007312)
1996
27
Ultrastructural study of the retina in late infantile metachromatic leukodystrophy. (1608595)
1992
28
Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. (1967188)
1990
29
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (2302219)
1990
30
Abnormal lipopigments and lysosomal residual bodies in metachromatic leukodystrophy. (2486156)
1989
31
Adult metachromatic leukodystrophy: neurophysiologic findings. (4069371)
1985
32
Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis. (6441775)
1984
33
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. (6136972)
1983
34
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells. (6137815)
1983
35
Biochemical studies of metachromatic leukodystrophy in three siblings. (7124346)
1982
36
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency. (6126151)
1982
37
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
38
Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva. (6893741)
1980
39
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis. (40713)
1979
40
Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man. (208495)
1978
41
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
42
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. (8599)
1976
43
The nature of the residual arylsulfatase activity in metachromatic leukodystrophy. (1127527)
1975
44
Inclusions in the sural nerve in metachromatic leukodystrophy. (1244002)
1975
45
Primary enzyme immunoassay (PEIA): studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase-A). (4128980)
1973
46
Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy. (4215475)
1973
47
Metachromatic leukodystrophy in the adult. A biochemical study. (5062266)
1972
48
Infantile metachromatic leukodystrophy. (4192207)
1970
49
Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD). (5514400)
1970
50
Studies on cerebral lipidosis. Enzymatic diagnosis of metachromatic leukodystrophy. (4993715)
1970

Variations for Metachromatic Leukodystrophy

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1ARSANM_000487.5(ARSA): c.1178C> G (p.Thr393Ser)single nucleotide variantBenign, Pathogenicrs743616GRCh37Chr 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 variantBenign, Pathogenicrs2071421GRCh37Chr 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 variantPathogenic, Uncertain significancers74315461GRCh37Chr 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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Sources:
2BioGPS, 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

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Sources:
50PathCards, 30KEGG, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database
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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 Activity38
9.5SLC6A3, SLC6A4
4
Show member pathways
9.3ARSE, ARSD
5
Show member pathways
8.1ARSH, ARSD, ARSB, ARSE, ARSA, SUMF1
6
Show member pathways
8.1ARSA, SUMF1, ARSH, ARSD, ARSB, ARSE
78.1ARSB, CTSL, GALC, PSAP, SUMF1, ARSA
8
Show member pathways
6.8ARSB, ARSE, ARSD, ARSH, GAL3ST1, GALC
9
Show member pathways
6.5ARSH, ARSB, IDUA, SUMF1, PSAP, GALC

Compounds for genes affiliated with Metachromatic Leukodystrophy

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Metachromatic Leukodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1p-nitrocatechol sulfate4510.3ARSH, ARSA
2glycosphingolipid4510.1PSAP, ARSA, UGT8
3psychosine459.8GALC, PSAP, GAL3ST1
4lactosylceramide459.8UGT8, PSAP, GAL3ST1
5mucopolysaccharide459.8IDUA, ARSA, ARSB, ARSH
6gbr 12935459.8SLC6A3, SLC6A4
7(123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane459.7SLC6A4, SLC6A3
8formylglycine459.7SUMF1, ARSA, ARSB, ARSH
95-methoxy-6-methyl-2-aminoindan459.7SLC6A4, SLC6A3
10glycosaminoglycan459.7IDUA, ARSA, ARSB, ARSH
11galactosylceramide459.6GAL3ST1, GALC, ARSA, PSAP
12p-chlorophenylalanine459.6SLC6A4, HTR1A
13125i459.5SLC6A3, SLC6A4, PSAP
14glycolipid459.5PSAP, UGT8, GAL3ST1, GALC
15carbon-11459.5SLC6A4, HTR1A, SLC6A3
16p-chloroamphetamine459.5SLC6A3, SLC6A4, HTR1A
17milnacipran45 51 1111.5HTR1A, SLC6A3, SLC6A4
18mdma459.5SLC6A3, HTR1A, SLC6A4
19trimipramine45 51 1111.5HTR1A, SLC6A4, SLC6A3
20nefazodone45 51 1111.5SLC6A4, SLC6A3, HTR1A
21maoa459.5HTR1A, SLC6A4, SLC6A3
22escitalopram45 51 24 1112.5SLC6A4, HTR1A, SLC6A3
23sertraline45 29 51 24 1113.5HTR1A, SLC6A3, SLC6A4
24fluvoxamine45 51 1111.5SLC6A3, HTR1A, SLC6A4
25venlafaxine45 51 24 1112.4SLC6A4, SLC6A3, HTR1A
26clomipramine45 51 1111.4SLC6A3, SLC6A4, HTR1A
27nortriptyline51 45 29 1112.4HTR1A, SLC6A3, SLC6A4
28sulfatide459.4ARSH, UGT8, ARSA, PSAP, GAL3ST1
29cerebroside459.3ARSH, ARSA, ARSB, UGT8, GAL3ST1
30paroxetine45 51 29 1112.2SLC6A3, HTR1A, SLC6A4
31estrone sulfate45 2410.2ARSD, ARSH, ARSE
322beta-carbomethoxy-3beta-(4-iodophenyl)tropane459.2SLC6A3, SLC6A4
33heparan sulfate45 2410.2ARSH, IDUA, CTSL, ARSA
34mannose459.1ARSB, ARSA, CTSL, IDUA
35valine459.0SLC6A3, ARSA, PSAP, SLC6A4
36amitriptyline45 29 51 1112.0SLC6A3, SLC6A4, HTR1A
37estrone45 29 24 1111.8ARSA, ARSE, ARSB, ARSD, ARSH
38mannose 6-phosphate45 249.8PSAP, ARSA, ARSB, CTSL, GALC, IDUA
39lipid458.8ARSB, 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
49sulfate45 249.4ARSH, ARSD, IDUA, ARSB, ARSE, PSAP
50cysteine457.9PSAP, SLC6A4, ARSH, ARSB, CTSL, ARSA

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
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:0302079.8ARSB, IDUA
5regulation of dopamine metabolic processGO:0420539.8SLC6A3, HTR1A
6monoamine transportGO:0158449.7SLC6A4, SLC6A3
7myelinationGO:0425529.7MAL, GAL3ST1
8central nervous system developmentGO:0074179.5ARSB, ARSA, MAL, UGT8
9response to nutrientGO:0075849.5ARSA, ARSB, SLC6A4
10lysosome organizationGO:0070409.5ARSB, IDUA
11vasoconstrictionGO:0423109.5HTR1A, SLC6A4
12post-translational protein modificationGO:0436878.4ARSA, ARSE, ARSB, ARSD, ARSH, SUMF1
13cellular protein metabolic processGO:0442678.4ARSA, ARSB, ARSD, ARSH, SUMF1, ARSE
14sphingolipid metabolic processGO:0066657.4ARSA, ARSH, ARSB, ARSD, GAL3ST1, GALC
15glycosphingolipid metabolic processGO:0066877.4ARSE, ARSB, ARSD, ARSH, GAL3ST1, GALC
16small molecule metabolic processGO:0442817.1ARSA, ARSE, SUMF1, ARSD, ARSB, 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
  • Antibodies

Sources for Metachromatic Leukodystrophy

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet