MCID: LKD001
MIFTS: 59

Leukodystrophy malady

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

Aliases & Classifications for Leukodystrophy

Aliases & Descriptions 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, 4 and leukoencephalopathy with vanishing white matter, 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 Gene Expression and Regulation of lipid metabolism Insulin signaling-generic cascades. 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 Decreased NANOG protein expression and behavior/neurological

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

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: 1/13/2016

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

Wikipedia : 71 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 169)
id Related Disease Score Top Affiliating Genes
1 leukodystrophy, hypomyelinating, 4 33.2 GJC2 HSPD1
2 leukoencephalopathy with vanishing white matter 32.1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 metachromatic leukodystrophy 12.4
4 autosomal dominant leukodystrophy with autonomic disease 12.2
5 pol iii-related leukodystrophies 12.2
6 leukodystrophy, adult-onset, autosomal dominant 12.1
7 leukodystrophy, hypomyelinating, 6 12.1
8 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.1
9 vasculopathy, retinal, with cerebral leukodystrophy 12.1
10 leukodystrophy, hypomyelinating, 3 12.1
11 leukodystrophy, hypomyelinating, 2 12.1
12 metachromatic leukodystrophy due to sap-b deficiency 12.1
13 hypomyelinating leukodystrophy 12.1
14 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.1
15 leukodystrophy, hypomyelinating, 5 12.1
16 leukodystrophy, hypomyelinating, 9 12.0
17 hypomyelinating leukodystrophy 13 12.0
18 leukodystrophy, hypomyelinating, 10 12.0
19 leukodystrophy, hypomyelinating, 11 12.0
20 hypomyelinating leukodystrophy 12 12.0
21 krabbe disease 11.9
22 pelizaeus-merzbacher disease 11.9
23 polr3-related leukodystrophy 11.8
24 alexander disease 11.8
25 tubb4a-related leukodystrophy 11.8
26 leigh syndrome with leukodystrophy 11.7
27 vps11-related autosomal recessive hypomyelinating leukodystrophy 11.6
28 unknown leukodystrophy 11.6
29 leukodystrophy, pseudometachromatic 11.6
30 metachromatic leukodystrophy, adult form 11.6
31 metachromatic leukodystrophy, late infantile form 11.6
32 metachromatic leukodystrophy, juvenile form 11.6
33 megalencephalic leukoencephalopathy with subcortical cysts 11.6
34 adrenoleukodystrophy 11.5
35 spastic paraplegia 35, autosomal recessive 11.5
36 pcwh syndrome 11.4
37 canavan disease 11.3
38 zellweger syndrome 11.3
39 multiple sulfatase deficiency 11.2
40 mitochondrial complex i deficiency 11.2
41 megalencephaly 11.0
42 leukoencephalopathy, diffuse hereditary, with spheroids 10.9
43 cerebral folate deficiency 10.8
44 cerebroretinal microangiopathy with calcifications and cysts 10.8
45 peroxisome biogenesis disorder 1b 10.8
46 neurodegeneration due to cerebral folate transport deficiency 10.8
47 refsum disease, infantile form 10.8
48 csf1r-related hereditary diffuse leukoencephalopathy with spheroids 10.6
49 spastic paraplegia 35 10.6
50 2,4-dienoyl-coa reductase deficiency 10.6

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 Decreased NANOG protein expression GR00184-A-3 10.58 EIF2B2 EIF2B3 EIF2B4 EIF2B1
2 Decreased NANOG protein expression GR00184-A-6 10.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4
3 Decreased NANOG protein expression GR00184-A-8 10.58 EIF2B2 EIF2B3 EIF2B4 EIF2B1
4 Decreased OCT4 protein expression GR00184-A-2 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4
5 Decreased OCT4 protein expression GR00184-A-5 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4
6 Decreased OCT4 protein expression GR00184-A-7 10.51 EIF2B1 EIF2B2 EIF2B3 EIF2B4
7 Decreased POU5F1-GFP protein expression GR00184-A-1 10.09 EIF2B1 EIF2B2 EIF2B3 EIF2B4 TUBB4A
8 Decreased POU5F1-GFP protein expression GR00184-A-4 10.09 EIF2B1 EIF2B2 EIF2B3 EIF2B4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.02 EIF2B2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.02 EIF2B2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.02 EIF2B4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.02 EIF2B4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.02 EIF2B1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.02 EIF2B1 EIF2B5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.02 EIF2B4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.02 EIF2B1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.02 EIF2B1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.02 EIF2B4
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.02 POLR3B
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.02 EIF2B2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 10.02 POLR3B
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.02 EIF2B1 EIF2B4 EIF2B5 POLR3B EIF2B2
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.02 EIF2B5
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.02 POLR3B
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.02 EIF2B5
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.02 EIF2B1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.74 HSPD1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.74 TUBB4A
29 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.74 EIF2B2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.74 EIF2B5 EIF2B2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.74 EIF2B5
32 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.74 HSPD1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.74 HSPD1 TUBB4A EIF2B2 EIF2B5
34 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.74 EIF2B5
35 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.74 EIF2B5
36 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.74 TUBB4A
37 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.74 HSPD1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.74 TUBB4A
39 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.74 EIF2B2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.74 TUBB4A
41 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.74 EIF2B5
42 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.74 EIF2B2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.74 HSPD1 EIF2B2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.74 EIF2B2
45 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.74 EIF2B2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.74 TUBB4A
47 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.74 HSPD1

MGI Mouse Phenotypes related to Leukodystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ARSA EIF2B3 EIF2B5 FA2H GALC GFAP
2 nervous system MP:0003631 9.36 ARSA EIF2B5 FA2H GALC GFAP GJC2

Drugs & Therapeutics for Leukodystrophy

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

(show top 50) (show all 71)
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 Antineoplastic Agents, Alkylating Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Methylprednisolone acetate Phase 2, Phase 3
11 Methylprednisolone Hemisuccinate Phase 2, Phase 3
12 Prednisolone acetate Phase 2, Phase 3
13 Prednisolone hemisuccinate Phase 2, Phase 3
14 Prednisolone phosphate Phase 2, Phase 3
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
18
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
19
Hydroxyurea Approved Phase 2 127-07-1 3657
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
23
Mycophenolic acid Approved Phase 2 24280-93-1 446541
24
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
25
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
26
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
27
rituximab Approved Phase 2 174722-31-7 10201696
28
Thiotepa Approved Phase 2 52-24-4 5453
29
Acetaminophen Approved Phase 2 103-90-2 1983
30
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
31
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
32
Promethazine Approved Phase 2 60-87-7 4927
33
Vidarabine Approved Phase 2 24356-66-9 32326 21704
34
Mesna Approved Phase 2 3375-50-6 598
35 tannic acid Approved, Nutraceutical Phase 2
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
37
Cholecalciferol Approved, Nutraceutical Phase 1, Phase 2 67-97-0 6221 10883523 5280795
38
Ergocalciferol Approved, Nutraceutical Phase 1, Phase 2 50-14-6 5280793
39 Antifungal Agents Phase 2
40 Anti-Infective Agents Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Calcineurin Inhibitors Phase 2
44 Dermatologic Agents Phase 2
45 Nucleic Acid Synthesis Inhibitors Phase 2
46 Anti-Bacterial Agents Phase 2,Phase 1
47 Antibiotics, Antitubercular Phase 2,Phase 1
48 N-monoacetylcystine Phase 2
49 Thioctic Acid Phase 2
50 Tocopherols Phase 2

Interventional clinical trials:

(show top 50) (show all 55)
id Name Status NCT ID Phase
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
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
6 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
7 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
8 Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy Recruiting NCT01801709 Phase 1, Phase 2
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
11 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
12 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 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
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
18 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2
19 Lithium and Acetate for Canavan Disease Withdrawn NCT00657748 Phase 2
20 Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00418561 Phase 1
21 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Recruiting NCT02723448 Phase 1
22 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
23 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
24 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
25 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
26 Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy Completed NCT01325025
27 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
28 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189
29 The Classification and Cause of Leukodystrophies of Unknown Cause Completed NCT00001671
30 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
31 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853
32 Study of Tongue Pressures Completed NCT00013832
33 Cause and Pathogenesis of Neurometabolic Disorders Completed NCT00016562
34 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
35 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
36 Magnetic Stimulation of the Human Nervous System Completed NCT00001780
37 Biomarker for Metachromatic Leukodystrophy Disease Recruiting NCT01536327
38 Natural History of the Leukodystrophies Recruiting NCT02843555
39 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Recruiting NCT02699190
40 The Nosology and Etiology of Leukodystrophies of Unknown Causes Recruiting NCT00889174
41 The Myelin Disorders Biorepository Project Recruiting NCT03047369
42 Krabbe Disease Global Patient Registry Recruiting NCT02993796
43 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
44 Natural History and Outcome Measures in Alexander Disease Recruiting NCT02714764
45 Biomarker for Krabbe Disease Recruiting NCT01425489
46 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Recruiting NCT01938014
47 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
48 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
49 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
50 The Natural History of Metachromatic Leukodystrophy Active, not recruiting NCT00639132

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 913)
id Title Authors Year
1
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. ( 28088283 )
2017
2
Gallbladder abnormalities in children with metachromatic leukodystrophy. ( 27993207 )
2017
3
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ( 27860360 )
2017
4
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 28191778 )
2017
5
Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy. ( 28077719 )
2017
6
In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL. ( 27816769 )
2017
7
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. ( 27785568 )
2017
8
Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations. ( 27638602 )
2016
9
Thickening of the peripheral nerves in metachromatic leukodystrophy. ( 27538671 )
2016
10
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. ( 27251004 )
2016
11
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glua89Lys, p.318Trpa89Cys) arylsulfatase A mutations. ( 27904824 )
2016
12
Perspective on innovative therapies for globoid cell leukodystrophy. ( 27638612 )
2016
13
Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. ( 27118454 )
2016
14
Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution. ( 27442695 )
2016
15
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. ( 26597493 )
2016
16
Krabbe's leukodystrophy: Approaches and models in vitro. ( 27638610 )
2016
17
Classical case of late-infantile form of metachromatic leukodystrophy. ( 27365977 )
2016
18
Myelin repair by transplantation of myelin-forming cells in globoid cell leukodystrophy. ( 27557886 )
2016
19
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement. ( 28013302 )
2016
20
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene. ( 26890752 )
2016
21
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
22
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. ( 26643067 )
2016
23
Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA. ( 26857957 )
2016
24
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples. ( 26585924 )
2016
25
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
26
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. ( 25935893 )
2016
27
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe'sA disease). ( 27638585 )
2016
28
Metachromatic Leukodystrophy: An Assessment of Disease Burden. ( 27389394 )
2016
29
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients. ( 27400410 )
2016
30
Immunostaining of Sulfatide-Storing Macrophages in Gallbladder of a Patient With Metachromatic Leukodystrophy. ( 27640320 )
2016
31
Novel AARS2 gene mutation producing leukodystrophy: a case report. ( 27734837 )
2016
32
Suppressing N-acetyl-L-aspartate (NAA) synthesis prevents loss of neurons in a murine model of Canavan leukodystrophy. ( 27913587 )
2016
33
Endothelial cell dysfunction in globoid cell leukodystrophy. ( 27037626 )
2016
34
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 27638920 )
2016
35
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy. ( 27079147 )
2016
36
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy. ( 26792856 )
2016
37
Infantile metachromatic leukodystrophy in an 18 month old girl. ( 27654749 )
2016
38
Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy. ( 27261095 )
2016
39
A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings. ( 26896090 )
2016
40
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. ( 27991992 )
2016
41
Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient. ( 27405012 )
2016
42
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy. ( 27606023 )
2016
43
Sporadic case of retinal vasculopathy with cerebral leukodystrophy/hereditary endotheliopathy retinopathy nephropathy stroke with novel TREX1 mutation. ( 27773153 )
2016
44
Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL. ( 27487381 )
2016
45
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. ( 26865610 )
2016
46
Acute leukodystrophy: elevated risk for neurocognitive impairment and imaging abnormalities. ( 27658981 )
2016
47
A microglial hypothesis of globoid cell leukodystrophy pathology. ( 27638591 )
2016
48
Gene therapy for metachromatic leukodystrophy. ( 27638601 )
2016
49
Immunological considerations for treating globoid cell leukodystrophy. ( 27638617 )
2016
50
Leukodystrophy. ( 27728533 )
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
13.54 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 HSPD1
2
Show member pathways
12.58 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3
Show member pathways
12.5 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4
Show member pathways
12.35 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5
Show member pathways
12.03 ARSA FA2H GALC PSAP
6 11.7 ARSA GALC PSAP
7 11.59 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
8 11.23 GALC GFAP SOX10
9
Show member pathways
10.81 EIF2B1 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 lysosome GO:0005764 9.67 ARSA GALC GFAP PSAP
2 myelin sheath GO:0043209 9.46 GJC2 HSPD1 PLP1 TUBB4A
3 lysosomal lumen GO:0043202 9.43 ARSA GALC PSAP
4 DNA-directed RNA polymerase III complex GO:0005666 9.13 POLR1C POLR3A POLR3B
5 eukaryotic translation initiation factor 2B complex GO:0005851 9.02 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
6 cytosol GO:0005829 10.1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 FAM126A

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.96 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 translation GO:0006412 9.89 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 translational initiation GO:0006413 9.83 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 response to glucose GO:0009749 9.77 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5 response to peptide hormone GO:0043434 9.72 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
6 positive regulation of type I interferon production GO:0032481 9.71 POLR1C POLR3A POLR3B
7 glycosphingolipid metabolic process GO:0006687 9.7 ARSA GALC PSAP
8 ovarian follicle development GO:0001541 9.69 EIF2B2 EIF2B4 EIF2B5
9 transcription from RNA polymerase III promoter GO:0006383 9.65 POLR1C POLR3A POLR3B
10 myelination GO:0042552 9.65 EIF2B2 EIF2B4 EIF2B5 FAM126A PLP1
11 cellular metabolic process GO:0044237 9.63 EIF2B1 EIF2B2 EIF2B4
12 negative regulation of translational initiation in response to stress GO:0032057 9.58 EIF2B3 EIF2B4 EIF2B5
13 astrocyte development GO:0014002 9.55 EIF2B5 PLP1
14 oligodendrocyte development GO:0014003 9.55 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
15 response to heat GO:0009408 9.43 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 HSPD1
16 cellular response to stimulus GO:0051716 8.92 EIF2B1 EIF2B2 EIF2B3 EIF2B4

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 guanyl-nucleotide exchange factor activity GO:0005085 9.35 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5 RNA polymerase III activity GO:0001056 9.33 POLR1C POLR3A POLR3B
6 translation initiation factor activity GO:0003743 9.02 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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