MCID: MTC003
MIFTS: 71

Metachromatic Leukodystrophy

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic 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 Leukodystrophy, Late Infantile 75 29 6
Metachromatic Leukoencephalopathy 57 53 25
Cerebroside Sulfatase Deficiency 57 53 75
Metachromatic Leukodystrophy, Juvenile Type 29 6
Metachromatic Leukodystrophy, Adult Type 29 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
Cerebroside Sulphatase Deficiency Disease 25
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, adult form and metachromatic leukodystrophy, late infantile form, and has symptoms including ataxia, seizures 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 Busulfan 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 optic atrophy

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.

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.

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).

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

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 74)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy, adult form 34.0 ARSA PSAP
2 metachromatic leukodystrophy, late infantile form 34.0 ARSA PSAP
3 metachromatic leukodystrophy, juvenile form 33.9 ARSA PSAP
4 leukodystrophy 31.8 ARSA GALC PLP1 PSAP
5 multiple sulfatase deficiency 31.1 ARSA ARSB ARSH STS SUMF1
6 krabbe disease 30.4 ARSA GALC PSAP
7 sphingolipidosis 30.3 ARSA GALC HEXA PSAP
8 gaucher's disease 29.9 ARSA PSAP
9 fucosidosis 29.5 HEXA MAL
10 tay-sachs disease 29.5 ARSA HEXA PSAP
11 metachromatic leukodystrophy due to saposin b deficiency 12.6
12 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a 12.1
13 inclusion-cell disease 10.5 ARSA PSAP
14 neuropathy 10.4
15 infantile krabbe disease 10.4 GALC PSAP
16 mucopolysaccharidosis, type ii 10.4 ARSA ARSH
17 dementia 10.4
18 cerebritis 10.4
19 gastric dilatation 10.3 ARSB ARSH
20 adrenoleukodystrophy 10.3
21 hurler syndrome 10.3
22 peripheral nervous system disease 10.3
23 neuronitis 10.3
24 hematopoietic stem cell transplantation 10.2
25 mucolipidosis ii alpha/beta 10.2 ARSH PSAP
26 schizophrenia 10.2
27 aging 10.2
28 alzheimer disease 10.1
29 multiple sclerosis 10.1
30 nervous system disease 10.1
31 depression 10.1
32 x-linked chondrodysplasia punctata 10.1 ARSH STS
33 mucopolysaccharidosis iii 10.0 ARSH SUMF1
34 chondrodysplasia punctata syndrome 10.0 ARSH STS
35 hashimoto thyroiditis 9.9
36 renal tubular acidosis, proximal 9.9
37 aspartylglucosaminuria 9.9
38 gaucher disease, type iii 9.9
39 aceruloplasminemia 9.9
40 combined saposin deficiency 9.9
41 ataxia-oculomotor apraxia 3 9.9
42 bipolar disorder 9.9
43 hydrocephalus 9.9
44 mannosidosis 9.9
45 renal tubular acidosis 9.9
46 metabolic acidosis 9.9
47 cholelithiasis 9.9
48 cerebral lipidosis 9.9
49 spastic quadriplegia 9.9
50 quadriplegia 9.9

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

UMLS symptoms related to Metachromatic Leukodystrophy:


ataxia, seizures, muscle weakness

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 GALC HEXA PLP1 PSAP SUMF1 ARSA
2 nervous system MP:0003631 9.76 ARSA ARSB GALC HEXA MAL PLP1
3 hearing/vestibular/ear MP:0005377 9.65 ARSA ARSB HEXA PLP1 PSAP
4 skeleton MP:0005390 9.43 ARSB GALC HEXA PLP1 PSAP SUMF1
5 vision/eye MP:0005391 9.1 ARSB GALC HEXA MAL PLP1 PSAP

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
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 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
Altretamine Approved Phase 3 645-05-6 2123
6
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
7 Alkylating Agents Phase 2, Phase 3,Not Applicable
8 Antilymphocyte Serum Phase 2, Phase 3
9 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
10 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
11 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
12 Methylprednisolone acetate Phase 2, Phase 3
13 Methylprednisolone Hemisuccinate Phase 2, Phase 3
14 Prednisolone acetate Phase 2, Phase 3
15 Prednisolone hemisuccinate Phase 2, Phase 3
16 Prednisolone phosphate Phase 2, Phase 3
17
Ethylene Phase 3 74-85-1 6325
18 Pharmaceutical Solutions Phase 3
19
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
20
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
21
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
24
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
25
Mesna Approved, Investigational Phase 2 3375-50-6 598
26
Mycophenolate mofetil Approved, Investigational Phase 2,Not Applicable 128794-94-5 5281078
27
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
28
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
29
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
30
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
31
rituximab Approved Phase 2 174722-31-7 10201696
32
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
33 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
34
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
35
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
36 Antifungal Agents Phase 2,Not Applicable
37 Anti-Infective Agents Phase 2,Not Applicable
38 Antimetabolites Phase 2,Not Applicable
39 Antimetabolites, Antineoplastic Phase 2,Not Applicable
40 Calcineurin Inhibitors Phase 2,Not Applicable
41 Cyclosporins Phase 2,Not Applicable
42 Dermatologic Agents Phase 2,Not Applicable
43 Nucleic Acid Synthesis Inhibitors Phase 2
44 Anti-Bacterial Agents Phase 2,Not Applicable
45 Antibiotics, Antitubercular Phase 2,Not Applicable
46 Antitubercular Agents Phase 2,Not Applicable
47 N-monoacetylcystine Phase 2
48 Thioctic Acid Phase 2
49 Tocopherols Phase 2
50 Tocotrienols Phase 2

Interventional clinical trials:

(show all 32)
# 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 A Safety and Efficacy Study of Cryopreserved GSK2696274 for Treatment of Metachromatic Leukodystrophy (MLD) Recruiting NCT03392987 Phase 3 GSK2696274
3 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
4 Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD) Completed NCT01510028 Phase 1, Phase 2
5 Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00633139 Phase 1, Phase 2
6 Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation Completed NCT01303146 Phase 2 rhARSA
7 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
8 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
9 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, 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 Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy Active, not recruiting NCT01801709 Phase 1, Phase 2
14 Gene Therapy for Metachromatic Leukodystrophy Active, not recruiting NCT01560182 Phase 2
15 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
16 Open-Label Extension Study Evaluating Safety and Efficacy of HGT-1110 in Patients With Metachromatic Leukodystrophy Enrolling by invitation NCT01887938 Phase 1, Phase 2
17 Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD Terminated NCT00681811 Phase 2 HGT-1111
18 Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00418561 Phase 1 rhASA
19 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
20 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
21 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
22 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
23 Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy Completed NCT01325025 Not Applicable
24 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Not Applicable Warfarin
25 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378 Not Applicable
26 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
27 The Natural History of Metachromatic Leukodystrophy Active, not recruiting NCT00639132
28 Biomarker for GM1/GM2 - Gangliosidoses Active, not recruiting NCT02298647
29 Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use) No longer available NCT02084121
30 Single Patient Expanded Access Protocol: Metabolic Boost No longer available NCT02021266
31 Biomarker for Metachromatic Leukodystrophy Disease Terminated NCT01536327
32 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
2 Metachromatic Leukodystrophy, Juvenile Type 29
3 Metachromatic Leukodystrophy, Late Infantile 29
4 Metachromatic Leukodystrophy, Adult Type 29

Anatomical Context for Metachromatic Leukodystrophy

MalaCards organs/tissues related to Metachromatic Leukodystrophy:

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

Publications for Metachromatic Leukodystrophy

Articles related to Metachromatic Leukodystrophy:

(show top 50) (show all 571)
# 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
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy. ( 28589167 )
2017
11
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder. ( 29111560 )
2017
12
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 28191778 )
2017
13
Gallbladder abnormalities in children with metachromatic leukodystrophy. ( 27993207 )
2017
14
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. ( 28088283 )
2017
15
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I. ( 28560469 )
2017
16
Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale. ( 29757307 )
2017
17
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. ( 28667691 )
2017
18
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. ( 28799099 )
2017
19
Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. ( 28889092 )
2017
20
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. ( 28670130 )
2017
21
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glua89Lys, p.318Trpa89Cys) arylsulfatase A mutations. ( 27904824 )
2016
22
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples. ( 26585924 )
2016
23
Infantile metachromatic leukodystrophy in an 18 month old girl. ( 27654749 )
2016
24
Immunostaining of Sulfatide-Storing Macrophages in Gallbladder of a Patient With Metachromatic Leukodystrophy. ( 27640320 )
2016
25
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 27638920 )
2016
26
Classical case of late-infantile form of metachromatic leukodystrophy. ( 27365977 )
2016
27
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. ( 27606023 )
2016
28
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients. ( 27400410 )
2016
29
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
30
Thickening of the peripheral nerves in metachromatic leukodystrophy. ( 27538671 )
2016
31
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
32
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. ( 27261095 )
2016
33
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. ( 27118454 )
2016
34
Gene therapy for metachromatic leukodystrophy. ( 27638601 )
2016
35
Metachromatic Leukodystrophy: An Assessment of Disease Burden. ( 27389394 )
2016
36
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy. ( 27079147 )
2016
37
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene. ( 26890752 )
2016
38
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
39
Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy. ( 27533630 )
2016
40
Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector. ( 26283284 )
2015
41
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia. ( 26553228 )
2015
42
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. ( 25965562 )
2015
43
A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A. ( 26620033 )
2015
44
Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy. ( 26061647 )
2015
45
Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients. ( 25796965 )
2015
46
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy. ( 26401514 )
2015
47
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. ( 26131420 )
2015
48
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. ( 26462614 )
2015
49
The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients. ( 26401154 )
2015
50
Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature. ( 26187619 )
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 482)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh37 Chromosome 22, 51065593: 51065593
2 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh38 Chromosome 22, 50627165: 50627165
3 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh37 Chromosome 22, 51063820: 51063820
4 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh38 Chromosome 22, 50625392: 50625392
5 ARSA NM_000487.5(ARSA): c.302G> A (p.Gly101Asp) single nucleotide variant Pathogenic/Likely pathogenic rs74315455 GRCh37 Chromosome 22, 51065757: 51065757
6 ARSA NM_000487.5(ARSA): c.302G> A (p.Gly101Asp) single nucleotide variant Pathogenic/Likely pathogenic rs74315455 GRCh38 Chromosome 22, 50627329: 50627329
7 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh37 Chromosome 22, 51065766: 51065766
8 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh38 Chromosome 22, 50627338: 50627338
9 ARSA ARSA, 11-BP DEL, EX8 deletion Pathogenic
10 ARSA ARSA, 1-BP DEL, 447C deletion Pathogenic
11 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh37 Chromosome 22, 51065404: 51065404
12 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh38 Chromosome 22, 50626976: 50626976
13 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh37 Chromosome 22, 51064006: 51064006
14 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh38 Chromosome 22, 50625578: 50625578
15 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Pathogenic rs74315459 GRCh37 Chromosome 22, 51064630: 51064630
16 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Pathogenic rs74315459 GRCh38 Chromosome 22, 50626202: 50626202
17 ARSA ARSA, 1-BP DEL, 297C deletion Pathogenic
18 ARSA NM_000487.5(ARSA): c.467G> A (p.Gly156Asp) single nucleotide variant Pathogenic rs74315463 GRCh37 Chromosome 22, 51065479: 51065479
19 ARSA NM_000487.5(ARSA): c.467G> A (p.Gly156Asp) single nucleotide variant Pathogenic rs74315463 GRCh38 Chromosome 22, 50627051: 50627051
20 ARSA NM_000487.5(ARSA): c.506C> G (p.Pro169Arg) single nucleotide variant Pathogenic rs74315465 GRCh37 Chromosome 22, 51065440: 51065440
21 ARSA NM_000487.5(ARSA): c.506C> G (p.Pro169Arg) single nucleotide variant Pathogenic rs74315465 GRCh38 Chromosome 22, 50627012: 50627012
22 ARSA NM_000487.5(ARSA): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs74315467 GRCh37 Chromosome 22, 51065305: 51065305
23 ARSA NM_000487.5(ARSA): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs74315467 GRCh38 Chromosome 22, 50626877: 50626877
24 ARSA NM_000487.5(ARSA): c.697C> A (p.Pro233Thr) single nucleotide variant Pathogenic rs74315469 GRCh37 Chromosome 22, 51065176: 51065176
25 ARSA NM_000487.5(ARSA): c.697C> A (p.Pro233Thr) single nucleotide variant Pathogenic rs74315469 GRCh38 Chromosome 22, 50626748: 50626748
26 ARSA NM_000487.5(ARSA): c.736C> T (p.Arg246Cys) single nucleotide variant Likely pathogenic rs74315470 GRCh37 Chromosome 22, 51065137: 51065137
27 ARSA NM_000487.5(ARSA): c.736C> T (p.Arg246Cys) single nucleotide variant Likely pathogenic rs74315470 GRCh38 Chromosome 22, 50626709: 50626709
28 ARSA NM_000487.5(ARSA): c.739G> A (p.Gly247Arg) single nucleotide variant Pathogenic rs74315471 GRCh37 Chromosome 22, 51065134: 51065134
29 ARSA NM_000487.5(ARSA): c.739G> A (p.Gly247Arg) single nucleotide variant Pathogenic rs74315471 GRCh38 Chromosome 22, 50626706: 50626706
30 ARSA NM_000487.5(ARSA): c.827C> T (p.Thr276Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315472 GRCh37 Chromosome 22, 51065046: 51065046
31 ARSA NM_000487.5(ARSA): c.827C> T (p.Thr276Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315472 GRCh38 Chromosome 22, 50626618: 50626618
32 ARSA NM_000487.5(ARSA): c.868C> T (p.Arg290Cys) single nucleotide variant Likely pathogenic rs74315473 GRCh37 Chromosome 22, 51064693: 51064693
33 ARSA NM_000487.5(ARSA): c.868C> T (p.Arg290Cys) single nucleotide variant Likely pathogenic rs74315473 GRCh38 Chromosome 22, 50626265: 50626265
34 ARSA NM_001085428.2(ARSA): c.632C> A (p.Ser211Tyr) single nucleotide variant Pathogenic rs74315474 GRCh37 Chromosome 22, 51064671: 51064671
35 ARSA NM_001085428.2(ARSA): c.632C> A (p.Ser211Tyr) single nucleotide variant Pathogenic rs74315474 GRCh38 Chromosome 22, 50626243: 50626243
36 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh37 Chromosome 22, 51064461: 51064461
37 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh38 Chromosome 22, 50626033: 50626033
38 ARSA NM_000487.5(ARSA): c.1114C> T (p.Arg372Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315476 GRCh37 Chromosome 22, 51064103: 51064103
39 ARSA NM_000487.5(ARSA): c.1114C> T (p.Arg372Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315476 GRCh38 Chromosome 22, 50625675: 50625675
40 ARSA NM_000487.5(ARSA): c.1150G> A (p.Glu384Lys) single nucleotide variant Pathogenic rs74315479 GRCh37 Chromosome 22, 51064067: 51064067
41 ARSA NM_000487.5(ARSA): c.1150G> A (p.Glu384Lys) single nucleotide variant Pathogenic rs74315479 GRCh38 Chromosome 22, 50625639: 50625639
42 ARSA ARSA, 3-BP DEL, PHE398DEL deletion Pathogenic
43 ARSA NM_000487.5(ARSA): c.1232C> T (p.Thr411Ile) single nucleotide variant Pathogenic rs74315481 GRCh37 Chromosome 22, 51063871: 51063871
44 ARSA NM_000487.5(ARSA): c.1232C> T (p.Thr411Ile) single nucleotide variant Pathogenic rs74315481 GRCh38 Chromosome 22, 50625443: 50625443
45 ARSA NM_000487.5(ARSA): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs121434215 GRCh37 Chromosome 22, 51065649: 51065649
46 ARSA NM_000487.5(ARSA): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs121434215 GRCh38 Chromosome 22, 50627221: 50627221
47 ARSA NM_000487.5(ARSA): c.862A> C (p.Thr288Pro) single nucleotide variant Pathogenic rs28940894 GRCh37 Chromosome 22, 51064699: 51064699
48 ARSA NM_000487.5(ARSA): c.862A> C (p.Thr288Pro) single nucleotide variant Pathogenic rs28940894 GRCh38 Chromosome 22, 50626271: 50626271
49 ARSA NM_000487.5(ARSA): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315483 GRCh37 Chromosome 22, 51065110: 51065110
50 ARSA NM_000487.5(ARSA): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315483 GRCh38 Chromosome 22, 50626682: 50626682

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.58 ARSA ARSB MAL
2 post-translational protein modification GO:0043687 9.55 ARSA ARSB ARSH STS SUMF1
3 response to nutrient GO:0007584 9.49 ARSA ARSB
4 response to estrogen GO:0043627 9.48 ARSA ARSB
5 myelination GO:0042552 9.46 MAL PLP1
6 sphingolipid metabolic process GO:0006665 9.43 GALC PSAP
7 metabolic process GO:0008152 9.43 ARSA ARSB ARSH GALC HEXA STS
8 chondroitin sulfate catabolic process GO:0030207 9.37 ARSB HEXA
9 response to pH GO:0009268 9.32 ARSA ARSB
10 response to methylmercury GO:0051597 9.26 ARSA ARSB
11 glycosphingolipid metabolic process GO:0006687 9.23 ARSA ARSB ARSH GALC HEXA PSAP

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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