MCID: LKD001
MIFTS: 56

Leukodystrophy

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Leukodystrophy

MalaCards integrated aliases for Leukodystrophy:

Name: Leukodystrophy 12 23 50 51 29 52 14 69
Leukodystrophies 41

Classifications:



External Ids:

Disease Ontology 12 DOID:10579
ICD9CM 35 330.0
NCIt 47 C61253
UMLS 69 C0023520

Summaries for Leukodystrophy

NINDS : 51 Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.

MalaCards based summary : Leukodystrophy, also known as leukodystrophies, is related to leukodystrophy, hypomyelinating, 2 and leukodystrophy, hypomyelinating, 4, and has symptoms including back pain, headache and pain. An important gene associated with Leukodystrophy is GALC (Galactosylceramidase), 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 Increased shRNA abundance (Z-score > 2) and behavior/neurological

NIH Rare Diseases : 50 a leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. it is caused by destruction of the white matter of the brain. the white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. myelin is needed to protect the nerves and the nerves can't function normally without it. these disorders are progressive, meaning they tend to get worse with time. the leukodystrophies are a group of disorders caused by spelling mistakes (mutations) in the genes involved in making myelin. specific leukodystrophies include metachromatic leukodystrophy, krabbe leukodystrophy, x-linked adrenoleukodystrophy, pelizaeus-merzbacher disease, canavan disease, and alexander disease. the most common symptom of a leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. this gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. last updated: 9/2/2017

MedlinePlus : 41 the leukodystrophies are rare diseases that affect the cells of the brain. specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. damage to this sheath slows down or blocks messages between the brain and the rest of the body. this leads to problems with movement speaking vision hearing mental and physical development most of the leukodystrophies are genetic. they usually appear during infancy or childhood. they can be hard to detect early because children seem healthy at first. however, symptoms gradually get worse over time. there are no cures for any of the leukodystrophies. medicines, speech therapy and physical therapy might help with symptoms. researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. nih: national institute of neurological disorders and stroke

Disease Ontology : 12 A cerebral degeneration characterized by dysfunction of the white matter of the brain.

Wikipedia : 72 Leukodystrophy is one of a group of disorders characterized by degeneration of the white matter in the... more...

GeneReviews: NBK184570

Related Diseases for Leukodystrophy

Diseases in the Leukodystrophy family:

Leukodystrophy, Adult-Onset, Autosomal Dominant Tubb4a-Related Leukodystrophy

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

(show top 50) (show all 179)
id Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 2 33.1 FA2H GJC2 PLP1
2 leukodystrophy, hypomyelinating, 4 32.5 GJC2 HSPD1
3 leukoencephalopathy with vanishing white matter 32.3 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 metachromatic leukodystrophy 12.4
5 autosomal dominant leukodystrophy with autonomic disease 12.2
6 pol iii-related leukodystrophies 12.2
7 leukodystrophy, hypomyelinating, 6 12.1
8 leukodystrophy, adult-onset, autosomal dominant 12.1
9 leukodystrophy, hypomyelinating, 3 12.1
10 tubb4a-related leukodystrophy 12.1
11 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.1
12 vasculopathy, retinal, with cerebral leukodystrophy 12.1
13 metachromatic leukodystrophy due to sap-b deficiency 12.1
14 hypomyelinating leukodystrophy 12.1
15 leukodystrophy, hypomyelinating, 5 12.0
16 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.0
17 leukodystrophy, hypomyelinating, 9 12.0
18 leukodystrophy, hypomyelinating, 13 12.0
19 leukodystrophy, hypomyelinating, 12 12.0
20 leukodystrophy, hypomyelinating, 10 12.0
21 leukodystrophy, hypomyelinating, 11 12.0
22 leukodystrophy and acquired microcephaly with or without dystonia 11.9
23 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 11.9
24 krabbe disease 11.9
25 polr3-related leukodystrophy 11.8
26 pelizaeus-merzbacher disease 11.8
27 alexander disease 11.8
28 leigh syndrome with leukodystrophy 11.7
29 metachromatic leukodystrophy, juvenile form 11.6
30 unknown leukodystrophy 11.6
31 leukodystrophy, pseudometachromatic 11.6
32 metachromatic leukodystrophy, adult form 11.6
33 metachromatic leukodystrophy, late infantile form 11.6
34 megalencephalic leukoencephalopathy with subcortical cysts 11.6
35 adrenoleukodystrophy 11.6
36 spastic paraplegia 35, autosomal recessive 11.5
37 pcwh syndrome 11.4
38 canavan disease 11.3
39 zellweger syndrome 11.2
40 multiple sulfatase deficiency 11.2
41 mitochondrial complex i deficiency 11.2
42 megalencephaly 10.9
43 leukoencephalopathy, diffuse hereditary, with spheroids 10.9
44 tay-sachs disease, b variant, adult form 10.8 ARSA PSAP
45 tay-sachs disease, b variant, juvenile form 10.7 ARSA PSAP
46 refsum disease, infantile form 10.7
47 cerebroretinal microangiopathy with calcifications and cysts 10.7
48 neurodegeneration due to cerebral folate transport deficiency 10.7
49 cerebral folate deficiency 10.7
50 spasticity, childhood-onset, with hyperglycinemia 10.7

Comorbidity relations with Leukodystrophy via Phenotypic Disease Network (PDN):


Acute Cystitis Parkinson Disease, Late-Onset

Graphical network of the top 20 diseases related to Leukodystrophy:



Diseases related to Leukodystrophy

Symptoms & Phenotypes for Leukodystrophy

UMLS symptoms related to Leukodystrophy:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Leukodystrophy according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.07 HSPD1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.07 TUBB4A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.07 EIF2B2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.07 EIF2B2 EIF2B5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.07 EIF2B5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.07 HSPD1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.07 EIF2B2 EIF2B5 HSPD1 TUBB4A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.07 EIF2B5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.07 EIF2B5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.07 TUBB4A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.07 HSPD1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.07 TUBB4A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.07 EIF2B2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.07 TUBB4A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.07 EIF2B5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.07 EIF2B2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.07 EIF2B2 HSPD1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.07 EIF2B2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.07 EIF2B2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.07 TUBB4A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.07 HSPD1
22 Synthetic lethal with Ras GR00018-A-0 9.17 GALC HSPD1 PLEKHG2 PLP1 POLR1C POLR3B

MGI Mouse Phenotypes related to Leukodystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 PLP1 PSAP SOX10 ARSA ASPA EIF2B5
2 hematopoietic system MP:0005397 9.61 ARSA ASPA EIF2B2 EIF2B5 GALC GJC2
3 nervous system MP:0003631 9.36 ARSA ASPA EIF2B5 FA2H GALC GJC2

Drugs & Therapeutics for Leukodystrophy

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

(show top 50) (show all 62)
id 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 Alkylating Agents Phase 2, Phase 3
6 Antilymphocyte Serum Phase 2, Phase 3
7 Antirheumatic Agents Phase 2, Phase 3
8 Immunosuppressive Agents Phase 2, Phase 3
9 Methylprednisolone acetate Phase 2, Phase 3
10 Methylprednisolone Hemisuccinate Phase 2, Phase 3
11 Prednisolone acetate Phase 2, Phase 3
12 Prednisolone hemisuccinate Phase 2, Phase 3
13 Prednisolone phosphate Phase 2, Phase 3
14
alemtuzumab Approved, Investigational Phase 2 216503-57-0
15
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
16
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
17
Hydroxyurea Approved Phase 2 127-07-1 3657
18
Melphalan Approved Phase 2 148-82-3 4053 460612
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
21
Mycophenolic acid Approved Phase 2 24280-93-1 446541
22
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
23
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
24
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
25
rituximab Approved Phase 2 174722-31-7 10201696
26 Thiotepa Approved Phase 2 52-24-4 5453
27
Mesna Approved Phase 2 3375-50-6 598
28 tannic acid Approved, Nutraceutical Phase 2
29 Tocopherol Approved, Nutraceutical Phase 2
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
31
Cholecalciferol Approved, Nutraceutical Phase 1, Phase 2 67-97-0 6221 10883523 5280795
32
Ergocalciferol Approved, Nutraceutical Phase 1, Phase 2 50-14-6 5280793
33
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 1406-16-2
34 Antifungal Agents Phase 2
35 Anti-Infective Agents Phase 2
36 Antimetabolites Phase 2
37 Antimetabolites, Antineoplastic Phase 2
38 Calcineurin Inhibitors Phase 2
39 Cyclosporins Phase 2
40 Dermatologic Agents Phase 2
41 Nucleic Acid Synthesis Inhibitors Phase 2
42 Anti-Bacterial Agents Phase 2,Phase 1
43 Antibiotics, Antitubercular Phase 2,Phase 1
44 N-monoacetylcystine Phase 2
45 Thioctic Acid Phase 2
46 Tocopherols Phase 2
47 Tocotrienols Phase 2
48 Vitamins Phase 2,Phase 1
49 Bone Density Conservation Agents Phase 1, Phase 2
50 Ergocalciferols Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 56)

id 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 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
8 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
9 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)
10 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
11 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
12 Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy Active, not recruiting NCT01801709 Phase 1, Phase 2
13 Gene Therapy for Metachromatic Leukodystrophy Active, not recruiting NCT01560182 Phase 2
14 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
15 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
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 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Not yet recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
18 Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD Terminated NCT00681811 Phase 2 HGT-1111
19 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
20 Lithium and Acetate for Canavan Disease Withdrawn NCT00657748 Phase 2 Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
21 Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00418561 Phase 1 rhASA
22 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Recruiting NCT02723448 Phase 1 aclarubicin
23 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
24 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
25 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
26 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
27 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
28 Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy Completed NCT01325025
29 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
30 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Warfarin
31 The Nosology and Etiology of Leukodystrophies of Unknown Causes Completed NCT00889174
32 The Classification and Cause of Leukodystrophies of Unknown Cause Completed NCT00001671
33 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
34 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853
35 Study of Tongue Pressures Completed NCT00013832
36 Cause and Pathogenesis of Neurometabolic Disorders Completed NCT00016562
37 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
38 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
39 Magnetic Stimulation of the Human Nervous System Completed NCT00001780
40 Biomarker for Metachromatic Leukodystrophy Disease Recruiting NCT01536327
41 Natural History of the Leukodystrophies Recruiting NCT02843555
42 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Recruiting NCT02699190
43 The Myelin Disorders Biorepository Project Recruiting NCT03047369
44 Krabbe Disease Global Patient Registry Recruiting NCT02993796
45 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
46 Natural History and Outcome Measures in Alexander Disease Recruiting NCT02714764
47 Biomarker for Krabbe Disease Recruiting NCT01425489
48 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
49 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
50 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

Search NIH Clinical Center for Leukodystrophy

Genetic Tests for Leukodystrophy

Genetic tests related to Leukodystrophy:

id Genetic test Affiliating Genes
1 Leukodystrophy 29

Anatomical Context for Leukodystrophy

MalaCards organs/tissues related to Leukodystrophy:

39
Brain, Bone, Bone Marrow, Testes, Spinal Cord, Skin, Liver

Publications for Leukodystrophy

Articles related to Leukodystrophy:

(show top 50) (show all 933)
id Title Authors Year
1
Leukodystrophy Presenting as Hyperactivity and Bipolarity with Uncommon Adverse Drug Reaction. ( 28515562 )
2017
2
Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy. ( 28077719 )
2017
3
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. ( 28799099 )
2017
4
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. ( 28667691 )
2017
5
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis. ( 28769756 )
2017
6
Leukodystrophy: Basic and Clinical. ( 28674989 )
2017
7
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy. ( 28589167 )
2017
8
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 28191778 )
2017
9
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. ( 28275661 )
2017
10
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ( 27860360 )
2017
11
Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers. ( 28470589 )
2017
12
Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. ( 28801086 )
2017
13
Lissencephaly-pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain. ( 28904573 )
2017
14
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene. ( 28493104 )
2017
15
Messenger RNA processing is altered in autosomal dominant leukodystrophy. ( 28934398 )
2017
16
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. ( 28670130 )
2017
17
Gallbladder abnormalities in children with metachromatic leukodystrophy. ( 27993207 )
2017
18
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation. ( 28377887 )
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
In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL. ( 27816769 )
2017
22
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. ( 27785568 )
2017
23
Frontal lobes white matter abnormalities mimicking cystic leukodystrophy in Wilson's disease. ( 28489149 )
2017
24
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. ( 28407788 )
2017
25
4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. ( 28561206 )
2017
26
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. ( 28791129 )
2017
27
Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. ( 28889092 )
2017
28
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. ( 27606023 )
2016
29
Infantile metachromatic leukodystrophy in an 18 month old girl. ( 27654749 )
2016
30
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
31
Metachromatic Leukodystrophy: An Assessment of Disease Burden. ( 27389394 )
2016
32
Leukodystrophy. ( 27728533 )
2016
33
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
34
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement. ( 28013302 )
2016
35
Myelin repair by transplantation of myelin-forming cells in globoid cell leukodystrophy. ( 27557886 )
2016
36
A microglial hypothesis of globoid cell leukodystrophy pathology. ( 27638591 )
2016
37
Classical case of late-infantile form of metachromatic leukodystrophy. ( 27365977 )
2016
38
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. ( 27405012 )
2016
39
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. ( 25935893 )
2016
40
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe'sA disease). ( 27638585 )
2016
41
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
42
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. ( 27118454 )
2016
43
Acute leukodystrophy: elevated risk for neurocognitive impairment and imaging abnormalities. ( 27658981 )
2016
44
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. ( 27261095 )
2016
45
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene. ( 26890752 )
2016
46
Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy. ( 27533630 )
2016
47
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy. ( 27079147 )
2016
48
Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL. ( 27487381 )
2016
49
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. ( 26792856 )
2016
50
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glua89Lys, p.318Trpa89Cys) arylsulfatase A mutations. ( 27904824 )
2016

Variations for Leukodystrophy

ClinVar genetic disease variations for Leukodystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh37 Chromosome 22, 51064461: 51064461

Copy number variations for Leukodystrophy from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 88184 14 87469110 87529660 Insertion GALC leukodystrophy

Expression for Leukodystrophy

Search GEO for disease gene expression data for Leukodystrophy.

Pathways for Leukodystrophy

Pathways related to Leukodystrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 ARSA FA2H GALC PSAP
2 11.52 ARSA GALC PSAP
3 11.49 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4
Show member pathways
10.72 EIF2B2 EIF2B3 EIF2B4 EIF2B5

GO Terms for Leukodystrophy

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

id Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.33 ARSA GALC PSAP
2 DNA-directed RNA polymerase III complex GO:0005666 9.13 POLR1C POLR3A POLR3B
3 eukaryotic translation initiation factor 2B complex GO:0005851 8.92 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 cytosol GO:0005829 10.03 ASPA EIF2B2 EIF2B3 EIF2B4 EIF2B5 FAM126A

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.96 EIF2B2 EIF2B3 EIF2B4 EIF2B5 PLEKHG2
2 translation GO:0006412 9.87 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 translational initiation GO:0006413 9.8 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 response to glucose GO:0009749 9.73 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5 response to peptide hormone GO:0043434 9.71 EIF2B2 EIF2B3 EIF2B4 EIF2B5
6 positive regulation of type I interferon production GO:0032481 9.7 POLR1C POLR3A POLR3B
7 glycosphingolipid metabolic process GO:0006687 9.69 ARSA GALC PSAP
8 ovarian follicle development GO:0001541 9.65 EIF2B2 EIF2B4 EIF2B5
9 transcription from RNA polymerase III promoter GO:0006383 9.63 POLR1C POLR3A POLR3B
10 response to heat GO:0009408 9.62 EIF2B2 EIF2B3 EIF2B4 EIF2B5
11 astrocyte development GO:0014002 9.55 EIF2B5 PLP1
12 cellular metabolic process GO:0044237 9.54 EIF2B2 EIF2B4
13 negative regulation of translational initiation in response to stress GO:0032057 9.43 EIF2B3 EIF2B4 EIF2B5
14 central nervous system myelination GO:0022010 9.37 ASPA PLP1
15 myelination GO:0042552 9.35 EIF2B2 EIF2B4 EIF2B5 FAM126A PLP1
16 cellular response to stimulus GO:0051716 9.33 EIF2B2 EIF2B3 EIF2B4
17 oligodendrocyte development GO:0014003 8.92 EIF2B2 EIF2B3 EIF2B4 EIF2B5

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

id Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 9.5 EIF2B3 POLR3A POLR3B
2 DNA-directed 5-3 RNA polymerase activity GO:0003899 9.43 POLR1C POLR3A POLR3B
3 translation initiation factor binding GO:0031369 9.37 EIF2B4 EIF2B5
4 RNA polymerase III activity GO:0001056 9.33 POLR1C POLR3A POLR3B
5 translation initiation factor activity GO:0003743 9.26 EIF2B2 EIF2B3 EIF2B4 EIF2B5
6 guanyl-nucleotide exchange factor activity GO:0005085 9.02 EIF2B2 EIF2B3 EIF2B4 EIF2B5 PLEKHG2

Sources for Leukodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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