MCID: MTC003
MIFTS: 72

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 53 37 12 23 49 24 50 55 36 28 13 14
Arylsulfatase a Deficiency 53 12 72 23 49 55 71 69
Mld 53 12 49 24 55 71
Arsa Deficiency 53 23 49 24 71
Sulfatide Lipidosis 53 49 24 71
Metachromatic Leukoencephalopathy 53 49 24
Cerebroside Sulfatase Deficiency 53 49 71
Leukodystrophy, Metachromatic 72 41 69
Leukodystrophy Metachromatic 49 71 51
Cerebral Sclerosis, Diffuse, Metachromatic Form 53 24
Cerebral Sclerosis Diffuse Metachromatic Form 49 71
Sulfatidosis 24 69
Metachromatic Leukodystrophy, Late Infantile 28
Metachromatic Leukodystrophy Late Infantile 71
Metachromatic Leukodystrophy, Juvenile Type 28
Leukodystrophy Metachromatic Late Infantile 51
Cerebroside Sulphatase Deficiency Disease 24
Metachromatic Leukodystrophy, Adult Type 28
Metachromatic Leukodystrophy Juvenile 71
Leukodystrophy Metachromatic Juvenile 51
Metachromatic Leukodystrophy, Infant 69
Deficiency of Cerebroside-Sulfatase 12
Arylsulfatase a Deficiency Disease 24
Metachromatic Leukodystrophy Adult 71
Leukodystrophy Metachromatic Adult 51
Scholz Cerebral Sclerosis 12
Sulfatide Lipoidosis 12
Greenfield Disease 24
Arylsulfatase a 13

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
metachromatic leukodystrophy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Metachromatic Leukodystrophy

NINDS : 50 Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies, which are 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.  Some leukodystrophies are caused by genetic defects of enzymes that regulate the metabolism of fats needed in myelin synthesis.  MLD, which affects males and females, is cause by a deficiency of the enzyme arylsulfatase A.  MLD has three characteristic forms: late infantile, juvenile, and adult. 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. Symptoms of the juvenile formof MLD (which begins between 3-10 years of age) include 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..   The adult form 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 joint stiffness. 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 behavior/neurological and nervous system

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 : 24 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 : 49 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

OMIM : 53 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 : 71 Leukodystrophy metachromatic: A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non- neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late- infantile, juvenile and adult.

Wikipedia : 72 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 75)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy, adult form 33.7 ARSA PSAP
2 metachromatic leukodystrophy, late infantile form 33.7 ARSA PSAP
3 metachromatic leukodystrophy, juvenile form 33.7 ARSA PSAP
4 leukodystrophy 32.2 ARSA GALC PLP1 PSAP
5 multiple sulfatase deficiency 31.7 ARSA ARSB ARSH STS SUMF1
6 sphingolipidosis 30.8 ARSA GALC HEXA PSAP
7 krabbe disease 30.4 ARSA GALC PSAP
8 fucosidosis 29.8 HEXA MAL
9 tay-sachs disease 29.7 ARSA HEXA PSAP
10 metachromatic leukodystrophy due to saposin b deficiency 12.6
11 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a 12.1
12 neuropathy 10.4
13 dementia 10.4
14 cerebritis 10.4
15 inclusion-cell disease 10.3 ARSA PSAP
16 adrenoleukodystrophy 10.3
17 hurler syndrome 10.3
18 hematopoietic stem cell transplantation 10.2
19 neuronitis 10.2
20 mucopolysaccharidosis, type ii 10.2 ARSA ARSH
21 infantile krabbe disease 10.2 GALC PSAP
22 gastric dilatation 10.2 ARSB ARSH
23 aging 10.2
24 mucolipidosis ii alpha/beta 10.1 ARSH PSAP
25 alzheimer disease 10.1
26 multiple sclerosis 10.1
27 schizophrenia 10.1
28 nervous system disease 10.1
29 mucopolysaccharidosis iii 10.1 ARSH SUMF1
30 x-linked chondrodysplasia punctata 10.0 ARSH STS
31 chondrodysplasia punctata syndrome 10.0 ARSH STS
32 blood group, i system 9.9
33 hashimoto thyroiditis 9.9
34 renal tubular acidosis, proximal 9.9
35 aspartylglucosaminuria 9.9
36 gaucher disease, type iii 9.9
37 ataxia and polyneuropathy, adult-onset 9.9
38 aceruloplasminemia 9.9
39 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
40 combined saposin deficiency 9.9
41 bacteremia 2 9.9
42 ataxia-oculomotor apraxia 3 9.9
43 bipolar disorder 9.9
44 hydrocephalus 9.9
45 mannosidosis 9.9
46 renal tubular acidosis 9.9
47 metabolic acidosis 9.9
48 cholelithiasis 9.9
49 cerebral lipidosis 9.9
50 spastic 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:

53
Neurologic Central Nervous System:
ataxia
seizures
muscle weakness
dystonia
dysarthria
more
Head And Neck Eyes:
optic atrophy

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

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

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
hallucinations
delusions
behavioral disturbances
poor school performance
more
Abdomen Biliary Tract:
cholecystitis
gallbladder dysfunction

Genitourinary Bladder:
urinary incontinence


Clinical features from OMIM:

250100

Human phenotypes related to Metachromatic Leukodystrophy:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
4 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
5 amaurosis fugax 55 31 frequent (33%) Frequent (79-30%) HP:0100576
6 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
7 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
8 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
9 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
10 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
11 hyperreflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001347
12 neurological speech impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0002167
13 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
14 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
15 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
16 peripheral neuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009830
17 decreased nerve conduction velocity 55 31 hallmark (90%) Very frequent (99-80%) HP:0000762
18 genu recurvatum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002816
19 reduced tendon reflexes 55 31 frequent (33%) Frequent (79-30%) HP:0001315
20 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
21 coma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001259
22 dystonia 31 HP:0001332
23 emotional lability 31 HP:0000712
24 dysarthria 31 HP:0001260
25 chorea 31 HP:0002072
26 tetraplegia 31 HP:0002445
27 hallucinations 31 HP:0000738
28 spastic tetraplegia 31 HP:0002510
29 babinski sign 31 HP:0003487
30 abnormality of the musculature 55 Occasional (29-5%)
31 mental deterioration 31 HP:0001268
32 hyporeflexia 31 HP:0001265
33 cholecystitis 31 HP:0001082
34 bulbar palsy 31 HP:0001283
35 generalized hypotonia 31 HP:0001290
36 increased csf protein 31 HP:0002922
37 peripheral demyelination 31 HP:0011096
38 urinary incontinence 31 HP:0000020
39 loss of speech 31 HP:0002371
40 abnormality of the cerebral white matter 31 HP:0002500
41 delusions 31 HP:0000746
42 progressive peripheral neuropathy 31 HP:0007133
43 gallbladder dysfunction 31 HP:0005609
44 emg 31 HP:0003445

UMLS symptoms related to Metachromatic Leukodystrophy:


muscle weakness, seizures, ataxia

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 ARSA ARSB GALC HEXA PLP1 PSAP
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 HEXA MAL PLP1 PSAP ARSB GALC

Drugs & Therapeutics for Metachromatic Leukodystrophy

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, 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
8 Antilymphocyte Serum Phase 2, Phase 3
9 Antirheumatic Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Prednisolone acetate Phase 2, Phase 3
14 Prednisolone hemisuccinate Phase 2, Phase 3
15 Prednisolone phosphate Phase 2, Phase 3
16
Ethylene Phase 3 74-85-1 6325
17 Pharmaceutical Solutions Phase 3
18
alemtuzumab Approved, Investigational Phase 2 216503-57-0
19
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
20
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
21
Hydroxyurea Approved Phase 2 127-07-1 3657
22
Melphalan Approved Phase 2 148-82-3 460612 4053
23
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
24
Mesna Approved, Investigational Phase 2 3375-50-6 598
25
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2 24280-93-1 446541
27
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
28
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
29
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
30
rituximab Approved Phase 2 174722-31-7 10201696
31 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
32 tannic acid Approved, Nutraceutical Phase 2
33 Tocopherol Approved, Investigational, Nutraceutical Phase 2
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
35 Antifungal Agents Phase 2
36 Anti-Infective Agents Phase 2
37 Antimetabolites Phase 2
38 Antimetabolites, Antineoplastic Phase 2
39 Calcineurin Inhibitors Phase 2
40 Cyclosporins Phase 2
41 Dermatologic Agents Phase 2
42 Nucleic Acid Synthesis Inhibitors Phase 2
43 Anti-Bacterial Agents Phase 2
44 Antibiotics, Antitubercular Phase 2
45 Antitubercular Agents Phase 2
46 N-monoacetylcystine Phase 2
47 Thioctic Acid Phase 2
48 Tocopherols Phase 2
49 Tocotrienols Phase 2
50 Vitamins 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
24 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Warfarin
25 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
26 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
27 Biomarker for Metachromatic Leukodystrophy Disease Recruiting NCT01536327
28 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
29 The Natural History of Metachromatic Leukodystrophy Active, not recruiting NCT00639132
30 Allogeneic Stem Cell Transplantation for the Treatment of Multiple Sclerosis (Compassionate Use) No longer available NCT02084121
31 Single Patient Expanded Access Protocol: Metabolic Boost No longer available NCT02021266
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 28 ARSA
2 Metachromatic Leukodystrophy, Late Infantile 28
3 Metachromatic Leukodystrophy, Adult Type 28
4 Metachromatic Leukodystrophy, Juvenile Type 28

Anatomical Context for Metachromatic Leukodystrophy

MalaCards organs/tissues related to Metachromatic Leukodystrophy:

38
Brain, Bone, Bone Marrow, Spinal Cord, Skin, Liver, Eye

Publications for Metachromatic Leukodystrophy

Articles related to Metachromatic Leukodystrophy:

(show top 50) (show all 562)
# Title Authors Year
1
Diffusion tensor imaging in metachromatic leukodystrophy. ( 29383515 )
2018
2
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
3
Slowly Progressive Psychiatric Symptoms: ThinkA Metachromatic Leukodystrophy. ( 29413149 )
2018
4
Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy. ( 29340559 )
2018
5
Gallbladder abnormalities in children with metachromatic leukodystrophy. ( 27993207 )
2017
6
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. ( 28670130 )
2017
7
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. ( 28799099 )
2017
8
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy. ( 28589167 )
2017
9
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. ( 28088283 )
2017
10
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I. ( 28560469 )
2017
11
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 28191778 )
2017
12
Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. ( 28889092 )
2017
13
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. ( 28667691 )
2017
14
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder. ( 29111560 )
2017
15
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. ( 27606023 )
2016
16
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. ( 27118454 )
2016
17
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy. ( 27079147 )
2016
18
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
19
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glua89Lys, p.318Trpa89Cys) arylsulfatase A mutations. ( 27904824 )
2016
20
Classical case of late-infantile form of metachromatic leukodystrophy. ( 27365977 )
2016
21
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene. ( 26890752 )
2016
22
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
23
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples. ( 26585924 )
2016
24
Immunostaining of Sulfatide-Storing Macrophages in Gallbladder of a Patient With Metachromatic Leukodystrophy. ( 27640320 )
2016
25
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. ( 27261095 )
2016
26
Metachromatic Leukodystrophy: An Assessment of Disease Burden. ( 27389394 )
2016
27
Gene therapy for metachromatic leukodystrophy. ( 27638601 )
2016
28
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 27638920 )
2016
29
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
30
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients. ( 27400410 )
2016
31
Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy. ( 27533630 )
2016
32
Infantile metachromatic leukodystrophy in an 18 month old girl. ( 27654749 )
2016
33
Thickening of the peripheral nerves in metachromatic leukodystrophy. ( 27538671 )
2016
34
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. ( 25965562 )
2015
35
Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients. ( 25796965 )
2015
36
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. ( 26131420 )
2015
37
Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature. ( 26187619 )
2015
38
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report. ( 26245762 )
2015
39
Multidetector CT diagnosis of massive hemobilia due to gallbladder polyposis in a child with metachromatic leukodystrophy. ( 26160127 )
2015
40
Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy. ( 26061647 )
2015
41
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy. ( 26401514 )
2015
42
A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A. ( 26620033 )
2015
43
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. ( 26462614 )
2015
44
Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector. ( 26283284 )
2015
45
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment. ( 25987178 )
2015
46
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy. ( 25569213 )
2015
47
Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia. ( 26553228 )
2015
48
The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients. ( 26401154 )
2015
49
Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in non-human primates. ( 25758611 )
2015
50
Anti-inflammatory therapy with simvastatin improves neuroinflammation and CNS function in a mouse model of metachromatic leukodystrophy. ( 25896249 )
2015

Variations for Metachromatic Leukodystrophy

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

71 (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 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.257G> A (p.Arg86Gln) single nucleotide variant Pathogenic rs74315458 GRCh37 Chromosome 22, 51065802: 51065802
2 ARSA NM_000487.5(ARSA): c.769G> C (p.Asp257His) single nucleotide variant Pathogenic rs80338819 GRCh37 Chromosome 22, 51065104: 51065104
3 ARSA NM_000487.5(ARSA): c.1175G> A (p.Arg392Gln) single nucleotide variant Likely pathogenic rs199476391 GRCh37 Chromosome 22, 51064042: 51064042
4 ARSA NM_000487.5(ARSA): c.256C> T (p.Arg86Trp) single nucleotide variant Pathogenic rs199476352 GRCh37 Chromosome 22, 51065803: 51065803
5 ARSA NM_000487.5(ARSA): c.737G> A (p.Arg246His) single nucleotide variant Pathogenic rs199476366 GRCh37 Chromosome 22, 51065136: 51065136
6 ARSA NM_000487.5(ARSA): c.746T> C (p.Phe249Ser) single nucleotide variant Likely pathogenic rs199476384 GRCh37 Chromosome 22, 51065127: 51065127
7 ARSA NM_000487.5(ARSA): c.883G> A (p.Gly295Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199476349 GRCh37 Chromosome 22, 51064678: 51064678
8 ARSA NM_000487.5(ARSA): c.899T> C (p.Leu300Ser) single nucleotide variant Pathogenic rs199476389 GRCh37 Chromosome 22, 51064662: 51064662
9 ARSA NM_000487.5(ARSA): c.1108-2A> G single nucleotide variant Pathogenic rs398123411 GRCh37 Chromosome 22, 51064111: 51064111
10 ARSA NM_000487.5(ARSA): c.1125_1126delCT (p.Phe376Leufs) deletion Pathogenic rs398123412 GRCh37 Chromosome 22, 51064091: 51064092
11 ARSA NM_000487.5(ARSA): c.195delC (p.Tyr65Terfs) deletion Pathogenic rs398123414 GRCh37 Chromosome 22, 51066013: 51066013
12 ARSA NM_000487.5(ARSA): c.34delG (p.Ala12Profs) deletion Pathogenic rs398123415 GRCh37 Chromosome 22, 51066174: 51066174
13 ARSA NM_000487.5(ARSA): c.583delT (p.Trp195Glyfs) deletion Pathogenic rs398123416 GRCh37 Chromosome 22, 51065363: 51065363
14 ARSA NM_000487.5(ARSA): c.986C> T (p.Thr329Ile) single nucleotide variant Pathogenic rs398123418 GRCh37 Chromosome 22, 51064485: 51064485
15 ARSA NM_000487.5(ARSA): c.991G> T (p.Glu331Ter) single nucleotide variant Pathogenic rs398123419 GRCh37 Chromosome 22, 51064480: 51064480
16 ARSA NM_000487.5(ARSA): c.1489_1492dupCCCC (p.Arg498Profs) duplication Likely pathogenic rs774153480 GRCh38 Chromosome 22, 50625183: 50625186
17 ARSA NM_000487.5(ARSA): c.1223_1231delGTGATACCA (p.Ser408_Thr410del) deletion Likely pathogenic rs765905826 GRCh37 Chromosome 22, 51063872: 51063880
18 ARSA NM_000487.5(ARSA): c.979+1G> A single nucleotide variant Likely pathogenic rs754722529 GRCh37 Chromosome 22, 51064581: 51064581
19 ARSA NM_000487.5(ARSA): c.304delC (p.Leu102Cysfs) deletion Likely pathogenic rs786204673 GRCh37 Chromosome 22, 51065755: 51065755
20 ARSA NM_000487.5(ARSA): c.240dupC (p.Gly81Argfs) duplication Likely pathogenic rs786204599 GRCh38 Chromosome 22, 50627391: 50627391
21 ARSA NM_000487.5(ARSA): c.1408_1418delGCAGCTGTGAC (p.Ala470Leufs) deletion Pathogenic rs80338823 GRCh38 Chromosome 22, 50625257: 50625267
22 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh37 Chromosome 22, 51065593: 51065593
23 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh37 Chromosome 22, 51063820: 51063820
24 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh37 Chromosome 22, 51065766: 51065766
25 ARSA ARSA, 11-BP DEL, EX8 deletion Pathogenic
26 ARSA ARSA, 1-BP DEL, 447C deletion Pathogenic
27 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh37 Chromosome 22, 51065404: 51065404
28 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh37 Chromosome 22, 51064006: 51064006
29 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Pathogenic rs74315459 GRCh37 Chromosome 22, 51064630: 51064630
30 ARSA ARSA, 1-BP DEL, 297C deletion Pathogenic
31 ARSA NM_000487.5(ARSA): c.467G> A (p.Gly156Asp) single nucleotide variant Pathogenic rs74315463 GRCh37 Chromosome 22, 51065479: 51065479
32 ARSA NM_000487.5(ARSA): c.506C> G (p.Pro169Arg) single nucleotide variant Pathogenic rs74315465 GRCh37 Chromosome 22, 51065440: 51065440
33 ARSA NM_000487.5(ARSA): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs74315467 GRCh37 Chromosome 22, 51065305: 51065305
34 ARSA NM_000487.5(ARSA): c.697C> A (p.Pro233Thr) single nucleotide variant Pathogenic rs74315469 GRCh37 Chromosome 22, 51065176: 51065176
35 ARSA NM_000487.5(ARSA): c.736C> T (p.Arg246Cys) single nucleotide variant Pathogenic/Likely pathogenic rs74315470 GRCh37 Chromosome 22, 51065137: 51065137
36 ARSA NM_000487.5(ARSA): c.739G> A (p.Gly247Arg) single nucleotide variant Pathogenic rs74315471 GRCh37 Chromosome 22, 51065134: 51065134
37 ARSA NM_000487.5(ARSA): c.827C> T (p.Thr276Met) single nucleotide variant Pathogenic/Likely pathogenic rs74315472 GRCh37 Chromosome 22, 51065046: 51065046
38 ARSA NM_000487.5(ARSA): c.868C> T (p.Arg290Cys) single nucleotide variant Pathogenic/Likely pathogenic rs74315473 GRCh37 Chromosome 22, 51064693: 51064693
39 ARSA NM_001085428.2(ARSA): c.632C> A (p.Ser211Tyr) single nucleotide variant Pathogenic rs74315474 GRCh37 Chromosome 22, 51064671: 51064671
40 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh37 Chromosome 22, 51064461: 51064461
41 ARSA NM_000487.5(ARSA): c.1114C> T (p.Arg372Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315476 GRCh37 Chromosome 22, 51064103: 51064103
42 ARSA NM_000487.5(ARSA): c.1150G> A (p.Glu384Lys) single nucleotide variant Pathogenic rs74315479 GRCh37 Chromosome 22, 51064067: 51064067
43 ARSA ARSA, 3-BP DEL, PHE398DEL deletion Pathogenic
44 ARSA NM_000487.5(ARSA): c.1232C> T (p.Thr411Ile) single nucleotide variant Pathogenic rs74315481 GRCh37 Chromosome 22, 51063871: 51063871
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.862A> C (p.Thr288Pro) single nucleotide variant Pathogenic rs28940894 GRCh37 Chromosome 22, 51064699: 51064699
47 ARSA NM_000487.5(ARSA): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315483 GRCh37 Chromosome 22, 51065110: 51065110
48 ARSA NM_000487.5(ARSA): c.1229C> T (p.Thr410Ile) single nucleotide variant Pathogenic rs28940895 GRCh37 Chromosome 22, 51063874: 51063874
49 ARSA NM_000487.5(ARSA): c.905G> T (p.Cys302Phe) single nucleotide variant Pathogenic rs74315484 GRCh37 Chromosome 22, 51064656: 51064656
50 ARSA NM_000487.5(ARSA): c.1279C> A (p.Pro427Thr) single nucleotide variant Pathogenic rs74315485 GRCh37 Chromosome 22, 51063824: 51063824

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:

36
# 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 9.58 ARSA ARSB MAL
2 post-translational protein modification GO:0043687 9.55 ARSA ARSB ARSH STS SUMF1
3 response to estrogen GO:0043627 9.48 ARSA ARSB
4 myelination GO:0042552 9.46 MAL PLP1
5 sphingolipid metabolic process GO:0006665 9.43 GALC PSAP
6 metabolic process GO:0008152 9.43 ARSA ARSB ARSH GALC HEXA STS
7 chondroitin sulfate catabolic process GO:0030207 9.37 ARSB HEXA
8 response to pH GO:0009268 9.32 ARSA ARSB
9 response to methylmercury GO:0051597 9.26 ARSA ARSB
10 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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