MLD
MCID: MTC003
MIFTS: 70

Metachromatic Leukodystrophy (MLD)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Metachromatic Leukodystrophy

MalaCards integrated aliases for Metachromatic Leukodystrophy:

Name: Metachromatic Leukodystrophy 57 38 12 24 53 25 54 59 75 37 29 13 6 15
Arylsulfatase a Deficiency 57 12 76 24 53 59 75 73
Mld 57 12 53 25 59 75
Arsa Deficiency 57 24 53 25 75
Leukodystrophy, Metachromatic 76 44 40 73
Sulfatide Lipidosis 57 53 25 75
Cerebral Sclerosis, Diffuse, Metachromatic Form 57 25 75
Metachromatic Leukoencephalopathy 57 53 25
Cerebroside Sulfatase Deficiency 57 53 75
Metachromatic Leukodystrophy, Late Infantile 75 6
Metachromatic Leukodystrophy Variant 6 73
Pseudoarylsulfatase a Deficiency 75 73
Leukodystrophy Metachromatic 53 55
Sulfatidosis 25 73
Cerebral Sclerosis Diffuse Metachromatic Form 53
Leukodystrophy Metachromatic Late Infantile 55
Metachromatic Leukodystrophy, Juvenile Type 6
Cerebroside Sulphatase Deficiency Disease 25
Metachromatic Leukodystrophy, Adult Type 6
Metachromatic Leukodystrophy, Juvenile 75
Leukodystrophy Metachromatic Juvenile 55
Metachromatic Leukodystrophy, Infant 73
Deficiency of Cerebroside-Sulfatase 12
Metachromatic Leukodystrophy, Adult 75
Arylsulfatase a Deficiency Disease 25
Leukodystrophy Metachromatic Adult 55
Scholz Cerebral Sclerosis 12
Sulfatide Lipoidosis 12
Greenfield Disease 25
Arylsulfatase a 13

Characteristics:

Orphanet epidemiological data:

59
metachromatic leukodystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (Netherlands),1-9/100000 (Portugal),1-9/1000000 (Germany),1-9/100000 (Turkey),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Poland),1-9/100000 (United States),1-9/100000 (Worldwide),1-9/100000 (Sweden); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,adult,early childhood,late childhood,young Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
late infantile onset 6-24 months
juvenile onset 4 years to puberty
adult onset after puberty
adult onset form usually presents with psychiatric manifestations
pseudoarylsulfatase a deficiency is an allelic disorder with reduced levels of arsa activity, but no neurologic manifestations


HPO:

32
metachromatic leukodystrophy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Metachromatic Leukodystrophy

NINDS : 54 Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders characterized by the toxic buildup of lipids (fatty materials such as oils and waxes) and other storage materials in cells in the white matter of the central nervous system and peripheral nerves.  The buildup of storage materials impairs 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.)  MLD is one of several lipid storage diseases, which result in the harmful buildup of lipids in brain cells and other cells and tissues in the body.  People with lipid storage diseases either do not produce enough of one of the enzymes needed to break down (metabolize) lipids or they produce enzymes that do not work properly. MLD, which affects males and females, is cause by a deficiency of the enzyme arylsulfatase A.   MLD has three characteristic forms: Late infantile MLD typically begins between 12 and 20 months following birth.  Infants appear normal at first but develop difficulty walking after the first year of life and eventually lose the ability to walk.  Other symptoms include muscle wasting and weakness,developmental delays, progressive loss of vision leading to blindness, impaired swallowing, and dementia before age 2. Most children with this form of MLD die by age 5. Juvenile formof MLD (which begins between 3-10 years of age) includes impaired school performance, mental deterioration, an inability to control movements, seizures, and dementia.  Symptoms continue to get worse, and death eventually occurs 10 to  20 years following disease onset..    Adult MLD commonly begins after age 16, with symptoms that include psychiatric disturbances, seizures, tremor, impaired concentration, depression, and dementia. Death generally occurs within 6 to 14 years after onset of symptoms.

MalaCards based summary : Metachromatic Leukodystrophy, also known as arylsulfatase a deficiency, is related to metachromatic leukodystrophy, late infantile form and metachromatic leukodystrophy, juvenile form, and has symptoms including seizures, ataxia and muscle weakness. An important gene associated with Metachromatic Leukodystrophy is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Methylprednisolone hemisuccinate and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are nystagmus and intellectual disability

Disease Ontology : 12 A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.

Genetics Home Reference : 25 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).

NIH Rare Diseases : 53 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.

OMIM : 57 The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (249900) and multiple sulfatase deficiency or juvenile sulfatidosis (272200), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy. (250100)

UniProtKB/Swiss-Prot : 75 Metachromatic leukodystrophy: An autosomal recessive disease caused by abnormal intralysosomal accumulation of cerebroside-3-sulfate in central and peripheral nervous systems, as well as other organs. MLD is clinically characterized by leukodystrophy, progressive demyelination and a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Decreased arylsulfatase A activity is detected in urine, leukocytes, and fibroblasts of affected individuals. Several forms of the disease can be distinguished according to the age at onset and disease severity: late infantile, juvenile and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency. Individuals with pseudoarylsulfatase A deficiency have low arylsulfatase A activity but lack neurological manifestations and are apparently healthy.

Wikipedia : 76 Metachromatic leukodystrophy (MLD, also called arylsulfatase A deficiency) is a lysosomal storage... more...

GeneReviews: NBK1130

Related Diseases for Metachromatic Leukodystrophy

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 92)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy, late infantile form 33.7 ARSA PSAP
2 metachromatic leukodystrophy, juvenile form 33.7 ARSA PSAP
3 metachromatic leukodystrophy, adult form 33.6 ARSA PSAP
4 leukodystrophy 32.8 ARSA GALC PLP1 PSAP
5 multiple sulfatase deficiency 32.3 ARSA ARSB ARSH STS SUMF1
6 sphingolipidosis 31.5 ARSA GALC HEXA PSAP
7 krabbe disease 30.6 ARSA GALC PSAP
8 gaucher's disease 30.4 ARSA PSAP
9 combined saposin deficiency 30.4 CDH23 PSAP
10 fucosidosis 30.3 HEXA MAL
11 tay-sachs disease 30.2 ARSA HEXA PSAP
12 lysosomal storage disease 29.0 ARSA ARSB GALC HEXA SUMF1
13 metachromatic leukodystrophy due to saposin b deficiency 12.8
14 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a 12.3
15 neuropathy 10.6
16 dementia 10.5
17 adrenoleukodystrophy 10.4
18 hurler syndrome 10.4
19 peripheral nervous system disease 10.4
20 schizophrenia 10.4
21 hematopoietic stem cell transplantation 10.4
22 alzheimer disease 10.2
23 multiple sclerosis 10.2
24 nervous system disease 10.2
25 depression 10.2
26 inclusion-cell disease 10.2 ARSA PSAP
27 glycoproteinosis 10.1 PSAP SUMF1
28 infantile krabbe disease 10.1 GALC PSAP
29 mucopolysaccharidosis, type ii 10.1 ARSA ARSH
30 gastric dilatation 10.1 ARSB ARSH
31 hashimoto thyroiditis 10.1
32 renal tubular acidosis, proximal 10.1
33 aspartylglucosaminuria 10.1
34 gaucher disease, type iii 10.1
35 aceruloplasminemia 10.1
36 bipolar disorder 10.1
37 hydrocephalus 10.1
38 mannosidosis 10.1
39 renal tubular acidosis 10.1
40 metabolic acidosis 10.1
41 cholelithiasis 10.1
42 cerebral lipidosis 10.1
43 spastic quadriplegia 10.1
44 quadriplegia 10.1
45 conduct disorder 10.1
46 polyneuropathy 10.1
47 communicating hydrocephalus 10.1
48 epilepsy 10.1
49 cholecystitis 10.1
50 papilloma 10.1

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



Diseases related to Metachromatic Leukodystrophy

Symptoms & Phenotypes for Metachromatic Leukodystrophy

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
hallucinations
delusions
behavioral disturbances
poor school performance
more
Head And Neck Eyes:
optic atrophy

Genitourinary Bladder:
urinary incontinence

Neurologic Peripheral Nervous System:
delayed nerve conduction velocity
demyelination
progressive polyneuropathy
emg shows neuropathic changes

Neurologic Central Nervous System:
seizures
ataxia
dysarthria
muscle weakness
chorea
more
Abdomen Biliary Tract:
cholecystitis
gallbladder dysfunction

Laboratory Abnormalities:
increased csf protein
metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs
decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts
increased urinary sulfatide excretion


Clinical features from OMIM:

250100

Human phenotypes related to Metachromatic Leukodystrophy:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
7 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
8 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
9 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
10 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
11 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
12 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
13 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
14 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
15 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
16 decreased nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000762
17 genu recurvatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002816
18 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
19 amaurosis fugax 59 32 frequent (33%) Frequent (79-30%) HP:0100576
20 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
21 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
22 emotional lability 32 HP:0000712
23 dysarthria 32 HP:0001260
24 chorea 32 HP:0002072
25 tetraplegia 32 HP:0002445
26 hallucinations 32 HP:0000738
27 spastic tetraplegia 32 HP:0002510
28 babinski sign 32 HP:0003487
29 dystonia 32 HP:0001332
30 abnormality of the musculature 59 Occasional (29-5%)
31 mental deterioration 32 HP:0001268
32 hyporeflexia 32 HP:0001265
33 cholecystitis 32 HP:0001082
34 generalized hypotonia 32 HP:0001290
35 urinary incontinence 32 HP:0000020
36 peripheral demyelination 32 HP:0011096
37 bulbar palsy 32 HP:0001283
38 increased csf protein 32 HP:0002922
39 delusions 32 HP:0000746
40 loss of speech 32 HP:0002371
41 abnormality of the cerebral white matter 32 HP:0002500
42 progressive peripheral neuropathy 32 HP:0007133
43 gallbladder dysfunction 32 HP:0005609
44 emg 32 HP:0003445

UMLS symptoms related to Metachromatic Leukodystrophy:


seizures, ataxia, muscle weakness

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ARSA ARSB CDH23 GALC HEXA PLP1
2 nervous system MP:0003631 9.81 ARSA ARSB CDH23 GALC HEXA MAL
3 hearing/vestibular/ear MP:0005377 9.73 ARSA ARSB CDH23 HEXA PLP1 PSAP
4 craniofacial MP:0005382 9.72 ARSB CDH23 GALC HEXA SUMF1
5 skeleton MP:0005390 9.43 ARSB GALC HEXA PLP1 PSAP SUMF1
6 vision/eye MP:0005391 9.17 ARSB CDH23 GALC HEXA MAL PLP1

Drugs & Therapeutics for Metachromatic Leukodystrophy

Drugs for Metachromatic Leukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Prednisolone acetate Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
10 Methylprednisolone acetate Phase 2, Phase 3
11 Alkylating Agents Phase 2, Phase 3,Not Applicable
12 Immunologic Factors Phase 2, Phase 3,Not Applicable
13 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
14 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
15 Antilymphocyte Serum Phase 2, Phase 3
16
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
17
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
18 tannic acid Approved Phase 2,Not Applicable
19
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
20
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
21
Hydroxyurea Approved Phase 2 127-07-1 3657
22
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
23
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
24
Mesna Approved, Investigational Phase 2 3375-50-6 598
25
Altretamine Approved Phase 2 645-05-6 2123
26
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
27
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
28
rituximab Approved Phase 2 174722-31-7 10201696
29
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
30
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
31
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
32
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
33
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
34 Tocotrienol Investigational Phase 2 6829-55-6
35 Calcineurin Inhibitors Phase 2,Not Applicable
36 Antifungal Agents Phase 2,Not Applicable
37 Dermatologic Agents Phase 2,Not Applicable
38 Antimetabolites, Antineoplastic Phase 2,Not Applicable
39 Anti-Infective Agents Phase 2,Not Applicable
40 Cyclosporins Phase 2,Not Applicable
41 Antimetabolites Phase 2,Not Applicable
42 Nucleic Acid Synthesis Inhibitors Phase 2
43 Anti-Bacterial Agents Phase 2,Not Applicable
44 Antibiotics, Antitubercular Phase 2,Not Applicable
45 Antitubercular Agents Phase 2,Not Applicable
46
Ethylene Phase 2 74-85-1 6325
47 Pharmaceutical Solutions Phase 2
48 Tocopherols Phase 2
49 Vitamins Phase 2
50 Tocotrienols Phase 2

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD) Completed NCT01510028 Phase 1, Phase 2
4 Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00633139 Phase 1, Phase 2
5 Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation Completed NCT01303146 Phase 2 rhARSA
6 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
7 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
8 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
9 A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD) Recruiting NCT03392987 Phase 2
10 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
11 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
12 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
13 An Efficacy and Safety Study of HGT-1110 in Metachromatic Leukodystrophy Participants Active, not recruiting NCT01887938 Phase 1, Phase 2
14 Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy Active, not recruiting NCT01801709 Phase 1, Phase 2
15 Gene Therapy for Metachromatic Leukodystrophy (MLD) Active, not recruiting NCT01560182 Phase 1, Phase 2
16 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
17 A Study of Intrathecal SHP611 in Participants With Late Infantile Metachromatic Leukodystrophy Not yet recruiting NCT03771898 Phase 2 SHP611
18 Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD Terminated NCT00681811 Phase 2 HGT-1111
19 Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00418561 Phase 1 rhASA
20 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
21 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
22 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
23 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
24 Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy Completed NCT01325025 Not Applicable
25 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Not Applicable Warfarin
26 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378 Not Applicable
27 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
28 Biomarker for Metachromatic Leukodystrophy Disease Recruiting NCT01536327
29 Lentiviral Gene Therapy for MLD Recruiting NCT03725670 Not Applicable
30 The Natural History of Metachromatic Leukodystrophy Active, not recruiting NCT00639132
31 BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study Available NCT03639844 rimiducid
32 Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use) No longer available NCT02084121
33 Single Patient Expanded Access Protocol: Metabolic Boost No longer available NCT02021266
34 Natural History Study of Children With Metachromatic Leukodystrophy Terminated NCT01963650

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.

Cochrane evidence based reviews: leukodystrophy, metachromatic

Genetic Tests for Metachromatic Leukodystrophy

Genetic tests related to Metachromatic Leukodystrophy:

# Genetic test Affiliating Genes
1 Metachromatic Leukodystrophy 29 ARSA

Anatomical Context for Metachromatic Leukodystrophy

MalaCards organs/tissues related to Metachromatic Leukodystrophy:

41
Brain, Bone, Bone Marrow, Spinal Cord, Skin, Liver, Thyroid

Publications for Metachromatic Leukodystrophy

Articles related to Metachromatic Leukodystrophy:

(show top 50) (show all 621)
# Title Authors Year
1
Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy. ( 29340559 )
2018
2
Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis? ( 29913002 )
2018
3
Intrathecal baclofen in metachromatic leukodystrophy. ( 29806077 )
2018
4
Diffusion tensor imaging in metachromatic leukodystrophy. ( 29383515 )
2018
5
Gallbladder Polyps in Metachromatic Leukodystrophy. ( 29494779 )
2018
6
Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy. ( 29899471 )
2018
7
Slowly Progressive Psychiatric Symptoms: ThinkA Metachromatic Leukodystrophy. ( 29413149 )
2018
8
Use of Defibrotide to help prevent post-transplant endothelial injury in a genetically predisposed infant with metachromatic leukodystrophy undergoing hematopoietic stem cell gene therapy. ( 29379168 )
2018
9
Metachromatic Leukodystrophy-Reply. ( 29913016 )
2018
10
Central Precocious Puberty in a Child With Metachromatic Leukodystrophy. ( 30197627 )
2018
11
Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene. ( 30052522 )
2018
12
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy. ( 30057904 )
2018
13
Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?-Reply. ( 30105388 )
2018
14
An unusual presentation of gall bladder papillomatosis in association with metachromatic leukodystrophy. ( 30389742 )
2018
15
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy. ( 28589167 )
2017
16
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder. ( 29111560 )
2017
17
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 28191778 )
2017
18
Gallbladder abnormalities in children with metachromatic leukodystrophy. ( 27993207 )
2017
19
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. ( 28088283 )
2017
20
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I. ( 28560469 )
2017
21
Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale. ( 29757307 )
2017
22
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. ( 28667691 )
2017
23
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. ( 28799099 )
2017
24
Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. ( 28889092 )
2017
25
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. ( 28670130 )
2017
26
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glua89Lys, p.318Trpa89Cys) arylsulfatase A mutations. ( 27904824 )
2016
27
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples. ( 26585924 )
2016
28
Infantile metachromatic leukodystrophy in an 18 month old girl. ( 27654749 )
2016
29
Immunostaining of Sulfatide-Storing Macrophages in Gallbladder of a Patient With Metachromatic Leukodystrophy. ( 27640320 )
2016
30
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 27638920 )
2016
31
Classical case of late-infantile form of metachromatic leukodystrophy. ( 27365977 )
2016
32
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. ( 27606023 )
2016
33
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients. ( 27400410 )
2016
34
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
35
Thickening of the peripheral nerves in metachromatic leukodystrophy. ( 27538671 )
2016
36
Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree. ( 27374302 )
2016
37
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. ( 27261095 )
2016
38
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. ( 27118454 )
2016
39
Gene therapy for metachromatic leukodystrophy. ( 27638601 )
2016
40
Metachromatic Leukodystrophy: An Assessment of Disease Burden. ( 27389394 )
2016
41
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy. ( 27079147 )
2016
42
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene. ( 26890752 )
2016
43
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial. ( 27289174 )
2016
44
Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy. ( 27533630 )
2016
45
Understanding the Metabolic Consequences of Human Arylsulfatase A Deficiency through a Computational Systems Biology Study. ( 27160716 )
2016
46
Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector. ( 26283284 )
2015
47
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia. ( 26553228 )
2015
48
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. ( 25965562 )
2015
49
A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A. ( 26620033 )
2015
50
Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy. ( 26061647 )
2015

Variations for Metachromatic Leukodystrophy

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

75 (show top 50) (show all 97)
# Symbol AA change Variation ID SNP ID
1 ARSA p.Pro82Leu VAR_007244 rs6151411
2 ARSA p.Arg84Gln VAR_007245 rs74315458
3 ARSA p.Gly86Asp VAR_007246 rs74315460
4 ARSA p.Ser95Asn VAR_007247 rs199476363
5 ARSA p.Ser96Phe VAR_007248 rs74315456
6 ARSA p.Ser96Leu VAR_007249 rs199476371
7 ARSA p.Gly99Asp VAR_007250 rs74315455
8 ARSA p.Gly119Arg VAR_007251 rs199476364
9 ARSA p.Gly122Ser VAR_007252 rs74315461
10 ARSA p.Leu135Pro VAR_007253 rs121434215
11 ARSA p.Pro136Leu VAR_007254 rs74315462
12 ARSA p.Asp152Tyr VAR_007255 rs199476365
13 ARSA p.Gly154Asp VAR_007256 rs74315463
14 ARSA p.Pro155Arg VAR_007257 rs74315464
15 ARSA p.Pro167Arg VAR_007258 rs74315465
16 ARSA p.Asp169Asn VAR_007259 rs74315466
17 ARSA p.Cys172Tyr VAR_007260 rs199476381
18 ARSA p.Ile179Ser VAR_007261 rs74315457
19 ARSA p.Tyr201Cys VAR_007263 rs199476345
20 ARSA p.Ala212Val VAR_007264 rs74315467
21 ARSA p.Ala224Val VAR_007265 rs74315468
22 ARSA p.Pro231Thr VAR_007266 rs74315469
23 ARSA p.Arg244Cys VAR_007267 rs74315470
24 ARSA p.Arg244His VAR_007268 rs199476366
25 ARSA p.Gly245Arg VAR_007269 rs74315471
26 ARSA p.Ser250Tyr VAR_007270 rs199476367
27 ARSA p.Thr274Met VAR_007271 rs74315472
28 ARSA p.Arg288Cys VAR_007272 rs74315473
29 ARSA p.Ser295Tyr VAR_007273 rs74315474
30 ARSA p.Gly309Ser VAR_007274 rs74315459
31 ARSA p.Arg311Gln VAR_007275 rs199476382
32 ARSA p.Ala314Thr VAR_007276 rs199476368
33 ARSA p.Asp335Val VAR_007277 rs74315475
34 ARSA p.Lys367Asn VAR_007279 rs199476369
35 ARSA p.Arg370Gln VAR_007280 rs74315477
36 ARSA p.Arg370Trp VAR_007281 rs74315476
37 ARSA p.Pro377Leu VAR_007282 rs74315478
38 ARSA p.Glu382Lys VAR_007283 rs74315479
39 ARSA p.Arg384Cys VAR_007284 rs199476370
40 ARSA p.Arg390Gln VAR_007285 rs199476391
41 ARSA p.Arg390Trp VAR_007286 rs74315480
42 ARSA p.His397Tyr VAR_007288 rs199476376
43 ARSA p.Pro426Leu VAR_007291 rs28940893
44 ARSA p.Cys300Phe VAR_008132 rs74315484
45 ARSA p.Pro425Thr VAR_008133 rs74315485
46 ARSA p.Ala18Asp VAR_054164 rs199476339
47 ARSA p.Asp29Asn VAR_054165 rs199476346
48 ARSA p.Asp30His VAR_054166 rs199476340
49 ARSA p.Gly32Ser VAR_054167 rs199476350
50 ARSA p.Leu68Pro VAR_054168 rs199476351

ClinVar genetic disease variations for Metachromatic Leukodystrophy:

6 (show top 50) (show all 622)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.*96A> G single nucleotide variant Conflicting interpretations of pathogenicity, other rs6151429 GRCh37 Chromosome 22, 51063477: 51063477
2 ARSA NM_000487.5(ARSA): c.*96A> G single nucleotide variant Conflicting interpretations of pathogenicity, other rs6151429 GRCh38 Chromosome 22, 50625049: 50625049
3 ARSA NM_000487.5(ARSA): c.1055A> G (p.Asn352Ser) single nucleotide variant Benign/Likely benign, other rs2071421 GRCh37 Chromosome 22, 51064416: 51064416
4 ARSA NM_000487.5(ARSA): c.1055A> G (p.Asn352Ser) single nucleotide variant Benign/Likely benign, other rs2071421 GRCh38 Chromosome 22, 50625988: 50625988
5 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh37 Chromosome 22, 51065593: 51065593
6 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh38 Chromosome 22, 50627165: 50627165
7 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh37 Chromosome 22, 51063820: 51063820
8 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh38 Chromosome 22, 50625392: 50625392
9 ARSA NM_000487.5(ARSA): c.302G> A (p.Gly101Asp) single nucleotide variant Pathogenic/Likely pathogenic rs74315455 GRCh37 Chromosome 22, 51065757: 51065757
10 ARSA NM_000487.5(ARSA): c.302G> A (p.Gly101Asp) single nucleotide variant Pathogenic/Likely pathogenic rs74315455 GRCh38 Chromosome 22, 50627329: 50627329
11 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh37 Chromosome 22, 51065766: 51065766
12 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh38 Chromosome 22, 50627338: 50627338
13 ARSA ARSA, 11-BP DEL, EX8 deletion Pathogenic
14 ARSA ARSA, 1-BP DEL, 447C deletion Pathogenic
15 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh37 Chromosome 22, 51065404: 51065404
16 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh38 Chromosome 22, 50626976: 50626976
17 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh37 Chromosome 22, 51064006: 51064006
18 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh38 Chromosome 22, 50625578: 50625578
19 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Likely pathogenic rs74315459 GRCh37 Chromosome 22, 51064630: 51064630
20 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Likely pathogenic rs74315459 GRCh38 Chromosome 22, 50626202: 50626202
21 ARSA NM_000487.5(ARSA): c.370G> A (p.Gly124Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74315461 GRCh37 Chromosome 22, 51065689: 51065689
22 ARSA NM_000487.5(ARSA): c.370G> A (p.Gly124Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74315461 GRCh38 Chromosome 22, 50627261: 50627261
23 ARSA NM_000487.5(ARSA): c.413C> T (p.Pro138Leu) single nucleotide variant Uncertain significance rs74315462 GRCh37 Chromosome 22, 51065646: 51065646
24 ARSA NM_000487.5(ARSA): c.413C> T (p.Pro138Leu) single nucleotide variant Uncertain significance rs74315462 GRCh38 Chromosome 22, 50627218: 50627218
25 ARSA ARSA, 1-BP DEL, 297C deletion Pathogenic
26 ARSA NM_000487.5(ARSA): c.467G> A (p.Gly156Asp) single nucleotide variant Pathogenic rs74315463 GRCh37 Chromosome 22, 51065479: 51065479
27 ARSA NM_000487.5(ARSA): c.467G> A (p.Gly156Asp) single nucleotide variant Pathogenic rs74315463 GRCh38 Chromosome 22, 50627051: 50627051
28 ARSA NM_000487.5(ARSA): c.506C> G (p.Pro169Arg) single nucleotide variant Pathogenic rs74315465 GRCh37 Chromosome 22, 51065440: 51065440
29 ARSA NM_000487.5(ARSA): c.506C> G (p.Pro169Arg) single nucleotide variant Pathogenic rs74315465 GRCh38 Chromosome 22, 50627012: 50627012
30 ARSA NM_000487.5(ARSA): c.511G> A (p.Asp171Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315466 GRCh37 Chromosome 22, 51065435: 51065435
31 ARSA NM_000487.5(ARSA): c.511G> A (p.Asp171Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74315466 GRCh38 Chromosome 22, 50627007: 50627007
32 ARSA NM_000487.5(ARSA): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs74315467 GRCh37 Chromosome 22, 51065305: 51065305
33 ARSA NM_000487.5(ARSA): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs74315467 GRCh38 Chromosome 22, 50626877: 50626877
34 ARSA NM_000487.5(ARSA): c.677C> T (p.Ala226Val) single nucleotide variant Uncertain significance rs74315468 GRCh37 Chromosome 22, 51065269: 51065269
35 ARSA NM_000487.5(ARSA): c.677C> T (p.Ala226Val) single nucleotide variant Uncertain significance rs74315468 GRCh38 Chromosome 22, 50626841: 50626841
36 ARSA NM_000487.5(ARSA): c.697C> A (p.Pro233Thr) single nucleotide variant Pathogenic rs74315469 GRCh37 Chromosome 22, 51065176: 51065176
37 ARSA NM_000487.5(ARSA): c.697C> A (p.Pro233Thr) single nucleotide variant Pathogenic rs74315469 GRCh38 Chromosome 22, 50626748: 50626748
38 ARSA NM_000487.5(ARSA): c.736C> T (p.Arg246Cys) single nucleotide variant Likely pathogenic rs74315470 GRCh37 Chromosome 22, 51065137: 51065137
39 ARSA NM_000487.5(ARSA): c.736C> T (p.Arg246Cys) single nucleotide variant Likely pathogenic rs74315470 GRCh38 Chromosome 22, 50626709: 50626709
40 ARSA NM_000487.5(ARSA): c.739G> A (p.Gly247Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315471 GRCh37 Chromosome 22, 51065134: 51065134
41 ARSA NM_000487.5(ARSA): c.739G> A (p.Gly247Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315471 GRCh38 Chromosome 22, 50626706: 50626706
42 ARSA NM_000487.5(ARSA): c.827C> T (p.Thr276Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315472 GRCh37 Chromosome 22, 51065046: 51065046
43 ARSA NM_000487.5(ARSA): c.827C> T (p.Thr276Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315472 GRCh38 Chromosome 22, 50626618: 50626618
44 ARSA NM_000487.5(ARSA): c.868C> T (p.Arg290Cys) single nucleotide variant Pathogenic/Likely pathogenic rs74315473 GRCh37 Chromosome 22, 51064693: 51064693
45 ARSA NM_000487.5(ARSA): c.868C> T (p.Arg290Cys) single nucleotide variant Pathogenic/Likely pathogenic rs74315473 GRCh38 Chromosome 22, 50626265: 50626265
46 ARSA NM_001085428.2(ARSA): c.632C> A (p.Ser211Tyr) single nucleotide variant Pathogenic rs74315474 GRCh37 Chromosome 22, 51064671: 51064671
47 ARSA NM_001085428.2(ARSA): c.632C> A (p.Ser211Tyr) single nucleotide variant Pathogenic rs74315474 GRCh38 Chromosome 22, 50626243: 50626243
48 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh37 Chromosome 22, 51064461: 51064461
49 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh38 Chromosome 22, 50626033: 50626033
50 ARSA NM_000487.5(ARSA): c.1114C> T (p.Arg372Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315476 GRCh37 Chromosome 22, 51064103: 51064103

Copy number variations for Metachromatic Leukodystrophy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 160376 22 14700000 51304566 Copy number ARSA Metachromatic leukodystrophy

Expression for Metachromatic Leukodystrophy

Search GEO for disease gene expression data for Metachromatic Leukodystrophy.

Pathways for Metachromatic Leukodystrophy

Pathways related to Metachromatic Leukodystrophy according to KEGG:

37
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

GO Terms for Metachromatic Leukodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.55 ARSA ARSB ARSH STS SUMF1
2 lysosome GO:0005764 9.43 ARSA ARSB GALC HEXA PSAP STS
3 lysosomal lumen GO:0043202 9.02 ARSA ARSB GALC HEXA PSAP

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

# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.5 ARSA ARSB MAL
2 response to estrogen GO:0043627 9.43 ARSA ARSB
3 myelination GO:0042552 9.4 MAL PLP1
4 sphingolipid metabolic process GO:0006665 9.37 GALC PSAP
5 chondroitin sulfate catabolic process GO:0030207 9.26 ARSB HEXA
6 response to pH GO:0009268 9.16 ARSA ARSB
7 glycosphingolipid metabolic process GO:0006687 9.1 ARSA GALC HEXA PSAP STS SUMF1
8 response to methylmercury GO:0051597 8.96 ARSA ARSB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.73 ARSA ARSB ARSH GALC HEXA STS
2 structural constituent of myelin sheath GO:0019911 9.16 MAL PLP1
3 arylsulfatase activity GO:0004065 9.13 ARSA ARSB ARSH
4 sulfuric ester hydrolase activity GO:0008484 8.92 ARSA ARSB ARSH STS

Sources for Metachromatic Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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