MCID: MTC003
MIFTS: 76

Metachromatic Leukodystrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases categories

Aliases & Classifications for Metachromatic Leukodystrophy

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 42NINDS, 11DISEASES, 47Orphanet, 60UMLS, 20GeneTests, 43Novoseek, 22GTR, 27ICD9CM, 33MeSH, 55SNOMED-CT, 38NCIt, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Metachromatic Leukodystrophy, Aliases & Descriptions:

Name: Metachromatic Leukodystrophy 45 30 9 10 19 41 21 42 11 47
Arylsulfatase a Deficiency 9 19 41 47 60
Mld 9 41 21 47
Leukodystrophy Metachromatic 41 43 22
Arsa Deficiency 19 41 21
Metachromatic Leukoencephalopathy 41 21
Sulfatide Lipidosis 41 21
Arylsulfatase a 10 20
Sulfatidosis 21 60
Cerebral Sclerosis, Diffuse, Metachromatic Form 21
 
Cerebral Sclerosis Diffuse Metachromatic Form 41
Cerebroside Sulphatase Deficiency Disease 21
Metachromatic Leukodystrophy, Infant 60
Deficiency of Cerebroside-Sulfatase 9
Arylsulfatase a Deficiency Disease 21
Cerebroside Sulfatase Deficiency 41
Leukodystrophy, Metachromatic 60
Scholz Cerebral Sclerosis 9
Sulfatide Lipoidosis 9
Greenfield Disease 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
metachromatic leukodystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: All ages


External Ids:

OMIM45 250100
Disease Ontology9 DOID:10581
ICD9CM27 330.0
MeSH33 D007966
NCIt38 C61251
Orphanet47 512
UMLS via Orphanet61 C2713319, C0023522
MESH via Orphanet34 C538597, D007966
ICD10 via Orphanet26 E75.2

Summaries for Metachromatic Leukodystrophy

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NIH Rare Diseases:41 Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. this accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. they also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. eventually they lose awareness of their surroundings and become unresponsive. this condition is inherited in an autosomal recessive pattern and is caused by mutations in the arsa and psap genes. last updated: 9/19/2014

MalaCards based summary: Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to leukodystrophy and krabbe disease, and has symptoms including behavioral abnormality, decreased nerve conduction velocity and seizures. An important gene associated with Metachromatic Leukodystrophy is ARSA (arylsulfatase A), and among its related pathways are Glycosaminoglycan degradation and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. The compounds p-nitrocatechol sulfate and glycosphingolipid have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

Disease Ontology:9 A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.

NINDS:42 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).

OMIM:45 The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD:... (250100) more...

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

GeneReviews summary for mld

Related Diseases for Metachromatic Leukodystrophy

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Diseases in the Metachromatic Leukodystrophy family:

Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy, Late Infantile Form
Metachromatic Leukodystrophy, Juvenile Form

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

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy32.8GALC, PSAP, ARSH
2krabbe disease31.3GALC, PSAP, ARSA
3tay-sachs disease31.2PSAP, ARSA
4multiple sulfatase deficiency31.0ARSH, ARSA, SUMF1, ARSB
5gangliosidosis30.9GALC, PSAP
6sphingolipidosis30.8GALC, PSAP, ARSA
7pervasive developmental disorder30.8SLC6A4
8dementia30.8ARSA, SLC6A3, HTR1A
9gangliosidosis gm130.7PSAP, ARSA
10mucolipidosis ii alpha/beta30.7ARSH, PSAP
11fabry disease30.7PSAP, ARSA
12conduct disorder30.3SLC6A4, SLC6A3
13central nervous system disease30.2IDUA, SLC6A3, SLC6A4
14wilson disease30.2SLC6A3, ARSA
15schizophrenia30.1ARSA, SLC6A3, HTR1A, SLC6A4
16bipolar disorder30.1SLC6A4, HTR1A, SLC6A3
17mucopolysaccharidosis29.9ARSH, ARSA, ARSB, IDUA, SUMF1
18alzheimer disease29.8SLC6A3, HTR1A, CTSL, SLC6A4
19lysosomal storage disease29.6ARSB, PSAP, ARSA, ARSH, GALC, SUMF1
20metachromatic leukodystrophy due to sap-b deficiency10.7
21gaucher's disease10.6PSAP
22cerebritis10.6
23neuropathy10.6
24mucolipidosis10.5ARSA
25fucosidosis10.4
26adrenoleukodystrophy10.4
27neuronitis10.4
28peripheral neuropathy10.4
29metachromatic leukodystrophy, adult form10.4
30metachromatic leukodystrophy, late infantile form10.4
31metachromatic leukodystrophy, juvenile form10.4
32mucopolysaccharidosis is10.4ARSH, IDUA
33alcoholic psychosis10.4SLC6A4
34anxiety disorder10.4SLC6A4
35serotonin syndrome10.4HTR1A
36chondrodysplasia punctata10.4ARSH, ARSE
37nervous system disease10.4
38neurologic diseases10.4
39nicotine dependence, protection against10.3SLC6A4
40demyelinating disease10.3ARSA, GALC
41oppositional defiant disorder10.3SLC6A3
42pathological gambling10.3SLC6A3
43premature ejaculation10.2HTR1A, SLC6A4
44social phobia10.2HTR1A, SLC6A4
45gaucher disease, type iii10.2
46hashimoto thyroiditis10.2
47aspartylglucosaminuria10.2
48cerebellar ataxia10.2
49hematopoietic stem cell transplantation10.2
50hydrocephalus10.2

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



Diseases related to metachromatic leukodystrophy

Symptoms for Metachromatic Leukodystrophy

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Symptoms by clinical synopsis from OMIM:

250100

Clinical features from OMIM:

250100

Symptoms:

 47 (show all 26)
  • genu recurvatum
  • 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
  • nystagmus
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • areflexia/hyporeflexia
  • hypereflexia
  • restricted joint mobility/joint stiffness/ankylosis
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • muscle anomalies

HPO human phenotypes related to Metachromatic Leukodystrophy:

(show all 51)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 decreased nerve conduction velocity hallmark (90%) HP:0000762
3 seizures hallmark (90%) HP:0001250
4 gait disturbance hallmark (90%) HP:0001288
5 muscle weakness hallmark (90%) HP:0001324
6 neurological speech impairment hallmark (90%) HP:0002167
7 incoordination hallmark (90%) HP:0002311
8 developmental regression hallmark (90%) HP:0002376
9 genu recurvatum hallmark (90%) HP:0002816
10 reduced consciousness/confusion hallmark (90%) HP:0004372
11 peripheral neuropathy hallmark (90%) HP:0009830
12 cognitive impairment hallmark (90%) HP:0100543
13 nystagmus typical (50%) HP:0000639
14 optic atrophy typical (50%) HP:0000648
15 muscular hypotonia typical (50%) HP:0001252
16 hypertonia typical (50%) HP:0001276
17 reduced tendon reflexes typical (50%) HP:0001315
18 hyperreflexia typical (50%) HP:0001347
19 limitation of joint mobility typical (50%) HP:0001376
20 amaurosis fugax typical (50%) HP:0100576
21 aganglionic megacolon occasional (7.5%) HP:0002251
22 autosomal recessive inheritance HP:0000007
23 urinary incontinence HP:0000020
24 optic atrophy HP:0000648
25 emotional lability HP:0000712
26 hallucinations HP:0000738
27 delusions HP:0000746
28 decreased nerve conduction velocity HP:0000762
29 cholecystitis HP:0001082
30 intellectual disability HP:0001249
31 seizures HP:0001250
32 ataxia HP:0001251
33 muscular hypotonia HP:0001252
34 dysarthria HP:0001260
35 hyporeflexia HP:0001265
36 mental deterioration HP:0001268
37 bulbar palsy HP:0001283
38 gait disturbance HP:0001288
39 dystonia HP:0001332
40 hyperreflexia HP:0001347
41 chorea HP:0002072
42 loss of speech HP:0002371
43 tetraplegia HP:0002445
44 abnormality of the cerebral white matter HP:0002500
45 spastic tetraplegia HP:0002510
46 increased csf protein HP:0002922
47 emg HP:0003445
48 babinski sign HP:0003487
49 gallbladder dysfunction HP:0005609
50 progressive peripheral neuropathy HP:0007133
51 peripheral demyelination HP:0011096

Drugs & Therapeutics for Metachromatic Leukodystrophy

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Drug clinical trials:

Search ClinicalTrials for Metachromatic Leukodystrophy

Search NIH Clinical Center for Metachromatic Leukodystrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Metachromatic Leukodystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Metachromatic Leukodystrophy

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Genetic tests related to Metachromatic Leukodystrophy:

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

Anatomical Context for Metachromatic Leukodystrophy

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MalaCards organs/tissues related to Metachromatic Leukodystrophy:

31
Brain, Bone, Spinal cord, Bone marrow, Skin, Liver, Eye, Kidney, Testes, Retina, Cerebellum, Thyroid, Skeletal muscle

Animal Models for Metachromatic Leukodystrophy or affiliated genes

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Publications for Metachromatic Leukodystrophy

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Articles related to Metachromatic Leukodystrophy:

(show top 50)    (show all 507)
idTitleAuthorsYear
1
The Complementary Role of the Kinect Virtual Reality Game Training in a Patient With Metachromatic Leukodystrophy. (24412636)
2014
2
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. (24499656)
2014
3
Gallbladder polyposis in metachromatic leukodystrophy. (23052730)
2013
4
Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort. (22941383)
2013
5
Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. (22642214)
2012
6
Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects. (23650469)
2012
7
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? (21695197)
2011
8
Biochemical profiling to predict disease severity in metachromatic leukodystrophy. (19815439)
2010
9
Successful treatment of metachromatic leukodystrophy using bone marrow transplantation of HoxB4 overexpressing cells. (20424597)
2010
10
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. (19174759)
2009
11
Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. (18336930)
2008
12
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. (17715338)
2007
13
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. (17093507)
2007
14
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (17347913)
2007
15
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. (17728461)
2007
16
Sedation for children with metachromatic leukodystrophy undergoing MRI. (17184435)
2007
17
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. (16966551)
2006
18
Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy]. (16883521)
2006
19
Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. (16110195)
2005
20
Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy. (15862354)
2005
21
Multifocal slowing of nerve conduction in metachromatic leukodystrophy. (15052618)
2004
22
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. (15085191)
2004
23
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. (10751093)
2000
24
Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. (10546790)
1999
25
Metachromatic leukodystrophy: molecular genetics and an animal model. (9728336)
1998
26
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. (8891236)
1996
27
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. (9007312)
1996
28
Ultrastructural study of the retina in late infantile metachromatic leukodystrophy. (1608595)
1992
29
Treatment of late infantile metachromatic leukodystrophy by bone marrow transplantation. (1967188)
1990
30
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (2302219)
1990
31
Abnormal lipopigments and lysosomal residual bodies in metachromatic leukodystrophy. (2486156)
1989
32
Adult metachromatic leukodystrophy: neurophysiologic findings. (4069371)
1985
33
Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis. (6441775)
1984
34
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. (6136972)
1983
35
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells. (6137815)
1983
36
Biochemical studies of metachromatic leukodystrophy in three siblings. (7124346)
1982
37
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency. (6126151)
1982
38
Metabolism of fatty acid-labeled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients. Use in the prenatal identification of a false positive fetus. (6117597)
1981
39
Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva. (6893741)
1980
40
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis. (40713)
1979
41
Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man. (208495)
1978
42
Steroid sulfatase in brain: comparison of sulfohydrolase activities for various steroid sulfates in normal and pathological brains, including the various forms of metachromatic leukodystrophy. (12249)
1976
43
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. (8599)
1976
44
The nature of the residual arylsulfatase activity in metachromatic leukodystrophy. (1127527)
1975
45
Inclusions in the sural nerve in metachromatic leukodystrophy. (1244002)
1975
46
Primary enzyme immunoassay (PEIA): studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase-A). (4128980)
1973
47
Treatment related observations in solid tissues, fibroblast cultured and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy. (4215475)
1973
48
Metachromatic leukodystrophy in the adult. A biochemical study. (5062266)
1972
49
Infantile metachromatic leukodystrophy. (4192207)
1970
50
Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD). (5514400)
1970

Variations for Metachromatic Leukodystrophy

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

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

Clinvar genetic disease variations for Metachromatic Leukodystrophy:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPNM_001042465.1(PSAP): c.650C> T (p.Thr217Ile)single nucleotide variantPathogenicrs121918103GRCh37Chr 10, 73587841: 73587841
2PSAPPSAP, IVS4AS, C-Asingle nucleotide variantPathogenic
3PSAPNM_001042465.1(PSAP): c.722G> C (p.Cys241Ser)single nucleotide variantPathogenicrs121918104GRCh37Chr 10, 73585649: 73585649
4PSAPPSAP, IVS5AS, G-T, -1single nucleotide variantPathogenic
5PSAPNM_001042465.1(PSAP): c.643A> C (p.Asn215His)single nucleotide variantPathogenicrs121918107GRCh37Chr 10, 73587848: 73587848
6PSAPPSAP, IVS5AS, A-G, -2single nucleotide variantPathogenic
7PSAPPSAP, 2-BP DEL, 828GAdeletionPathogenic
8ARSANM_000487.5(ARSA): c.1178C> G (p.Thr393Ser)single nucleotide variantPathogenicrs743616GRCh37Chr 22, 51064039: 51064039
9ARSANM_000487.5(ARSA): c.1407_1417delCGCAGCTGTGA (p.Ala470Leufs)deletionPathogenicrs80338823GRCh37Chr 22, 51063686: 51063696
10ARSANM_000487.5(ARSA): c.257G> A (p.Arg86Gln)single nucleotide variantPathogenicrs74315458GRCh37Chr 22, 51065802: 51065802
11ARSANM_000487.5(ARSA): c.769G> C (p.Asp257His)single nucleotide variantPathogenicrs80338819GRCh37Chr 22, 51065104: 51065104
12ARSANM_000487.5(ARSA): c.*96A> Gsingle nucleotide variantPathogenicrs6151429GRCh37Chr 22, 51063477: 51063477
13ARSANM_000487.5(ARSA): c.1055A> G (p.Asn352Ser)single nucleotide variantPathogenicrs2071421GRCh37Chr 22, 51064416: 51064416
14ARSANM_000487.5(ARSA): c.465+1G> Asingle nucleotide variantPathogenicrs80338815GRCh37Chr 22, 51065593: 51065593
15ARSANM_000487.5(ARSA): c.1283C> T (p.Pro428Leu)single nucleotide variantPathogenicrs28940893GRCh37Chr 22, 51063820: 51063820
16ARSANM_000487.5(ARSA): c.302G> A (p.Gly101Asp)single nucleotide variantPathogenicrs74315455GRCh37Chr 22, 51065757: 51065757
17ARSANM_000487.5(ARSA): c.293C> T (p.Ser98Phe)single nucleotide variantPathogenicrs74315456GRCh37Chr 22, 51065766: 51065766
18ARSANM_000487.5(ARSA): c.542T> G (p.Ile181Ser)single nucleotide variantPathogenicrs74315457GRCh37Chr 22, 51065404: 51065404
19ARSANM_000487.5(ARSA): c.1210+1G> Asingle nucleotide variantPathogenicrs80338820GRCh37Chr 22, 51064006: 51064006
20ARSANM_000487.5(ARSA): c.370G> A (p.Gly124Ser)single nucleotide variantPathogenicrs74315461GRCh37Chr 22, 51065689: 51065689
21ARSAARSA, 1-BP DEL, 297CdeletionPathogenic
22ARSANM_000487.5(ARSA): c.467G> A (p.Gly156Asp)single nucleotide variantPathogenicrs74315463GRCh37Chr 22, 51065479: 51065479
23ARSANM_000487.5(ARSA): c.506C> G (p.Pro169Arg)single nucleotide variantPathogenicrs74315465GRCh37Chr 22, 51065440: 51065440
24ARSANM_000487.5(ARSA): c.641C> T (p.Ala214Val)single nucleotide variantPathogenicrs74315467GRCh37Chr 22, 51065305: 51065305
25ARSANM_000487.5(ARSA): c.677C> T (p.Ala226Val)single nucleotide variantPathogenicrs74315468GRCh37Chr 22, 51065269: 51065269
26ARSANM_000487.5(ARSA): c.697C> A (p.Pro233Thr)single nucleotide variantPathogenicrs74315469GRCh37Chr 22, 51065176: 51065176
27ARSANM_000487.5(ARSA): c.736C> T (p.Arg246Cys)single nucleotide variantPathogenicrs74315470GRCh37Chr 22, 51065137: 51065137
28ARSANM_000487.5(ARSA): c.739G> A (p.Gly247Arg)single nucleotide variantPathogenicrs74315471GRCh37Chr 22, 51065134: 51065134
29ARSANM_000487.5(ARSA): c.868C> T (p.Arg290Cys)single nucleotide variantPathogenicrs74315473GRCh37Chr 22, 51064693: 51064693
30ARSANM_000487.5(ARSA): c.1174C> T (p.Arg392Trp)single nucleotide variantPathogenicrs74315480GRCh37Chr 22, 51064043: 51064043
31ARSAARSA, 3-BP DEL, PHE398DELdeletionPathogenic
32ARSANM_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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Search GEO for disease gene expression data for Metachromatic Leukodystrophy.

Pathways for genes affiliated with Metachromatic Leukodystrophy

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Pathways related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ARSB, IDUA
29.6SLC6A4, HTR1A
3
Show member pathways
Serotonin Transporter Activity36
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:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1p-nitrocatechol sulfate4310.3ARSH, ARSA
2glycosphingolipid4310.1ARSA, PSAP, UGT8
34-methylumbelliferyl-beta-d-glucoside439.9GALC, PSAP
4psychosine439.8GAL3ST1, GALC, PSAP
5lactosylceramide439.8GAL3ST1, UGT8, PSAP
6mucopolysaccharide439.8IDUA, ARSA, ARSB, ARSH
75-methoxy-6-methyl-2-aminoindan439.8SLC6A4, SLC6A3
8(123i)-2beta-carbomethoxy-3beta-(4-iodophenyl)tropane439.7SLC6A4, SLC6A3
9formylglycine439.7SUMF1, ARSA, ARSB, ARSH
10gbr 12935439.7SLC6A4, SLC6A3
11glycosaminoglycan439.7ARSA, ARSB, IDUA, ARSH
12galactosylceramide439.6PSAP, GALC, GAL3ST1, ARSA
13125i439.5PSAP, SLC6A4, SLC6A3
14glycolipid439.5GAL3ST1, UGT8, GALC, PSAP
15carbon-11439.5SLC6A3, SLC6A4, HTR1A
16p-chloroamphetamine439.5HTR1A, SLC6A4, SLC6A3
17milnacipran43 49 1211.5SLC6A3, SLC6A4, HTR1A
18mdma439.5HTR1A, SLC6A3, SLC6A4
19trimipramine43 49 1211.5HTR1A, SLC6A3, SLC6A4
20nefazodone43 49 1211.5HTR1A, SLC6A4, SLC6A3
21escitalopram43 49 24 1212.5SLC6A4, SLC6A3, HTR1A
22maoa439.5SLC6A3, SLC6A4, HTR1A
23sertraline43 28 49 24 1213.5SLC6A3, SLC6A4, HTR1A
24fluvoxamine43 49 1211.5SLC6A4, SLC6A3, HTR1A
25venlafaxine43 49 24 1212.4SLC6A4, SLC6A3, HTR1A
26clomipramine43 49 1211.4HTR1A, SLC6A4, SLC6A3
27nortriptyline49 43 28 1212.4SLC6A4, SLC6A3, HTR1A
28sulfatide439.4ARSH, UGT8, ARSA, PSAP, GAL3ST1
29cerebroside439.3ARSH, ARSA, ARSB, UGT8, GAL3ST1
30paroxetine43 49 28 1212.2SLC6A3, HTR1A, SLC6A4
31estrone sulfate43 2410.2ARSD, ARSE, ARSH
32rimcazole439.2SLC6A3, SLC6A4
33heparan sulfate43 2410.2ARSH, IDUA, CTSL, ARSA
34mannose439.1CTSL, IDUA, ARSB, ARSA
35valine439.0SLC6A3, ARSA, PSAP, SLC6A4
36amitriptyline43 28 49 1212.0SLC6A3, SLC6A4, HTR1A
37estrone43 28 24 1211.8ARSD, ARSH, ARSB, ARSE, ARSA
38mannose 6-phosphate43 249.8PSAP, GALC, ARSA, IDUA, CTSL, ARSB
39lipid438.8ARSB, ARSH, MAL, ARSA, GALC, PSAP
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
48Water248.4ARSA, ARSE, ARSB, ARSD, GALC, IDUA
49sulfate43 249.4ARSH, ARSD, IDUA, ARSB, ARSE, PSAP
50cysteine437.9PSAP, SUMF1, ARSA, ARSB, ARSH, SLC6A3

GO Terms for genes affiliated with Metachromatic Leukodystrophy

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Cellular components related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432028.4IDUA, ARSA, ARSB, CTSL, GALC, PSAP
2integral component of plasma membraneGO:00058878.3SLC6A4, HTR1A, MAL, GAL3ST1, SLC6A3
3endoplasmic reticulum lumenGO:00057888.0ARSA, ARSB, ARSD, ARSH, SUMF1, ARSE
4lysosomeGO:00057647.8GALC, ARSB, ARSD, CTSL, ARSA

Biological processes related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to methylmercuryGO:005159710.0ARSA, ARSB
2response to pHGO:00092689.9ARSA, ARSB
3galactosylceramide biosynthetic processGO:00066829.9GAL3ST1, UGT8
4chondroitin sulfate catabolic processGO:00302079.8ARSB, IDUA
5regulation of dopamine metabolic processGO:00420539.8SLC6A3, HTR1A
6monoamine transportGO:00158449.7SLC6A4, SLC6A3
7myelinationGO:00425529.7MAL, GAL3ST1
8central nervous system developmentGO:00074179.5ARSB, ARSA, MAL, UGT8
9response to nutrientGO:00075849.5ARSA, ARSB, SLC6A4
10lysosome organizationGO:00070409.5ARSB, IDUA
11vasoconstrictionGO:00423109.5HTR1A, SLC6A4
12post-translational protein modificationGO:00436878.4ARSA, ARSE, ARSB, ARSD, ARSH, SUMF1
13cellular protein metabolic processGO:00442678.4ARSA, ARSB, ARSD, ARSH, SUMF1, ARSE
14sphingolipid metabolic processGO:00066657.4ARSA, ARSH, ARSB, ARSD, GAL3ST1, GALC
15glycosphingolipid metabolic processGO:00066877.4ARSE, ARSB, ARSD, ARSH, GAL3ST1, GALC
16small molecule metabolic processGO:00442817.1ARSA, ARSE, SUMF1, ARSD, ARSB, ARSH

Molecular functions related to Metachromatic Leukodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1monoamine transmembrane transporter activityGO:00085049.5SLC6A3, SLC6A4
2arylsulfatase activityGO:00040658.1ARSA, ARSE, ARSB, ARSD, ARSH

Products for genes affiliated with Metachromatic Leukodystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Metachromatic Leukodystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet