Aliases & Classifications for Leukodystrophy

MalaCards integrated aliases for Leukodystrophy:

Name: Leukodystrophy 12 72 23 49 50 28 51 14 69
Leukodystrophies 40

Classifications:



External Ids:

Disease Ontology 12 DOID:10579
ICD9CM 34 330.0
NCIt 46 C61253
UMLS 69 C0023520

Summaries for Leukodystrophy

NINDS : 50 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 metachromatic leukodystrophy and pol iii-related leukodystrophies, and has symptoms including sleeplessness, vertigo/dizziness and chronic pain. An important gene associated with Leukodystrophy is GALC (Galactosylceramidase), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Sphingolipid metabolism. 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 Increased shRNA abundance (Z-score > 2)

NIH Rare Diseases : 49 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 : 40 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 related to Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 34.3 ARSA GALC PLP1 PSAP
2 pol iii-related leukodystrophies 33.9 POLR1C POLR3A POLR3B
3 leukodystrophy, hypomyelinating, 5 33.6 FAM126A PLP1 TUBB4A
4 krabbe disease 33.5 ARSA GALC PSAP
5 leukodystrophy, hypomyelinating, 4 33.5 GJC2 HSPD1 PLP1
6 metachromatic leukodystrophy, adult form 33.4 ARSA PSAP
7 metachromatic leukodystrophy, late infantile form 33.4 ARSA PSAP
8 metachromatic leukodystrophy, juvenile form 33.4 ARSA PSAP
9 leukodystrophy, hypomyelinating, 2 33.3 FA2H GJC2 PLP1
10 leukoencephalopathy with vanishing white matter 32.5 EIF2B2 EIF2B3 EIF2B4 EIF2B5
11 infantile krabbe disease 31.8 GALC PSAP
12 pelizaeus-merzbacher-like disease 31.7 GJC2 PLP1
13 sphingolipidosis 31.5 ARSA GALC PSAP
14 hypomyelinating leukodystrophy 31.2 FAM126A GJC2 HSPD1 NKX6-2 PLP1 POLR1C
15 spastic paraplegia 2, x-linked 31.1 GJC2 PLP1
16 autosomal dominant leukodystrophy with autonomic disease 12.4
17 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.4
18 leukodystrophy, hypomyelinating, 6 12.3
19 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.3
20 vasculopathy, retinal, with cerebral leukodystrophy 12.3
21 metachromatic leukodystrophy due to saposin b deficiency 12.3
22 tubb4a-related leukodystrophy 12.2
23 leukodystrophy, hypomyelinating, 3 12.2
24 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.2
25 leukodystrophy, hypomyelinating, 9 12.1
26 leukodystrophy, hypomyelinating, 13 12.1
27 leukodystrophy, hypomyelinating, 10 12.1
28 leukodystrophy, hypomyelinating, 11 12.1
29 leukodystrophy, hypomyelinating, 12 12.1
30 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.1
31 leukodystrophy and acquired microcephaly with or without dystonia 12.0
32 pelizaeus-merzbacher disease 12.0
33 polr3-related leukodystrophy 12.0
34 alexander disease 11.9
35 leigh syndrome with leukodystrophy 11.8
36 adrenoleukodystrophy 11.7
37 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a 11.7
38 leukodystrophy, progressive, early childhood-onset 11.7
39 leukodystrophy, pseudometachromatic 11.7
40 megalencephalic leukoencephalopathy with subcortical cysts 1 11.7
41 spastic paraplegia 35, autosomal recessive 11.6
42 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 11.5
43 canavan disease 11.4
44 leukoencephalopathy, hereditary diffuse, with spheroids 11.4
45 multiple sulfatase deficiency 11.3
46 mitochondrial complex i deficiency 11.3
47 megalencephaly 11.1
48 cerebrotendinous xanthomatosis 11.0
49 combined oxidative phosphorylation deficiency 12 10.9
50 zellweger syndrome 10.9

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:


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

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

25 (show all 22)
# 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 TUBB4A EIF2B2 EIF2B5 HSPD1
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 FA2H GALC HSPD1 PLEKHG2 PLP1 POLR1C

MGI Mouse Phenotypes related to Leukodystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ARSA EIF2B5 FA2H GALC GJC2 HSPD1
2 nervous system MP:0003631 9.36 ARSA EIF2B5 FA2H GALC GJC2 HSPD1

Drugs & Therapeutics for Leukodystrophy

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

(show top 50) (show all 75)
# 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
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
33
Emtricitabine Approved, Investigational Phase 1, Phase 2 143491-57-0 60877
34 tannic acid Approved, Nutraceutical Phase 2
35 Tocopherol Approved, Investigational, 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 10883523 5280795 6221
38
Ergocalciferol Approved, Nutraceutical Phase 1, Phase 2 50-14-6 5280793
39
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 1406-16-2
40 Antifungal Agents Phase 2
41 Anti-Infective Agents Phase 2,Phase 1
42 Antimetabolites Phase 2
43 Antimetabolites, Antineoplastic Phase 2
44 Calcineurin Inhibitors Phase 2
45 Cyclosporins Phase 2
46 Dermatologic Agents Phase 2
47 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
48 Anti-Bacterial Agents Phase 2,Phase 1
49 Antibiotics, Antitubercular Phase 2,Phase 1
50 Antitubercular Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 59)

# 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 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
9 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
10 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
11 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)
12 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
13 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
14 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1, Phase 2
15 Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy Active, not recruiting NCT01801709 Phase 1, Phase 2
16 Gene Therapy for Metachromatic Leukodystrophy Active, not recruiting NCT01560182 Phase 2
17 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
18 Open-Label Extension Study Evaluating Safety and Efficacy of HGT-1110 in Patients With Metachromatic Leukodystrophy Enrolling by invitation NCT01887938 Phase 1, Phase 2
19 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Not yet recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
20 Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD Terminated NCT00681811 Phase 2 HGT-1111
21 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
22 Lithium and Acetate for Canavan Disease Withdrawn NCT00657748 Phase 2 Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
23 Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00418561 Phase 1 rhASA
24 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Recruiting NCT02723448 Phase 1 aclarubicin
25 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
26 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
27 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
28 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
29 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
30 Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy Completed NCT01325025
31 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
32 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Warfarin
33 The Nosology and Etiology of Leukodystrophies of Unknown Causes Completed NCT00889174
34 The Classification and Cause of Leukodystrophies of Unknown Cause Completed NCT00001671
35 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853
36 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
37 Study of Tongue Pressures Completed NCT00013832
38 Cause and Pathogenesis of Neurometabolic Disorders Completed NCT00016562
39 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
40 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
41 Magnetic Stimulation of the Human Nervous System Completed NCT00001780
42 Natural History of the Leukodystrophies Recruiting NCT02843555
43 Biomarker for Metachromatic Leukodystrophy Disease Recruiting NCT01536327
44 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Recruiting NCT02699190
45 The Myelin Disorders Biorepository Project Recruiting NCT03047369
46 Krabbe Disease Global Patient Registry Recruiting NCT02993796
47 Biomarker for GM1/GM2 - Gangliosidoses Recruiting NCT02298647
48 Natural History and Outcome Measures in Alexander Disease Recruiting NCT02714764
49 Biomarker for Krabbe Disease Recruiting NCT01425489
50 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

Search NIH Clinical Center for Leukodystrophy

Genetic Tests for Leukodystrophy

Genetic tests related to Leukodystrophy:

# Genetic test Affiliating Genes
1 Leukodystrophy 28

Anatomical Context for Leukodystrophy

MalaCards organs/tissues related to Leukodystrophy:

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

Publications for Leukodystrophy

Articles related to Leukodystrophy:

(show top 50) (show all 954)
# Title Authors Year
1
Diffusion tensor imaging in metachromatic leukodystrophy. ( 29383515 )
2018
2
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hot spot. ( 29444210 )
2018
3
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter. ( 29285798 )
2018
4
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
5
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. ( 29297947 )
2018
6
Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy. ( 29322432 )
2018
7
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD). ( 29262292 )
2018
8
Slowly Progressive Psychiatric Symptoms: ThinkA Metachromatic Leukodystrophy. ( 29413149 )
2018
9
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. ( 29314318 )
2018
10
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). ( 29316812 )
2018
11
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. ( 29444246 )
2018
12
Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy. ( 29340559 )
2018
13
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). ( 29122458 )
2018
14
TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections. ( 29194508 )
2017
15
Gallbladder abnormalities in children with metachromatic leukodystrophy. ( 27993207 )
2017
16
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. ( 27785568 )
2017
17
Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation. ( 28377887 )
2017
18
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. ( 28670130 )
2017
19
In vivocharacterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL. ( 27816769 )
2017
20
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. ( 28799099 )
2017
21
Leukodystrophy: Basic and Clinical. ( 28674989 )
2017
22
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. ( 29186371 )
2017
23
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. ( 28969374 )
2017
24
Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations. ( 29237946 )
2017
25
Frontal lobes white matter abnormalities mimicking cystic leukodystrophy in Wilson's disease. ( 28489149 )
2017
26
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. ( 28791129 )
2017
27
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy. ( 28589167 )
2017
28
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. ( 28088283 )
2017
29
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene. ( 28493104 )
2017
30
Ataxia With Hypodontia: A Unique Leukodystrophy. ( 29429779 )
2017
31
4H Leukodystrophy: Lessons from 3T Imaging. ( 29179231 )
2017
32
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I. ( 28560469 )
2017
33
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 28191778 )
2017
34
Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment. ( 28889092 )
2017
35
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. ( 28407788 )
2017
36
4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. ( 28561206 )
2017
37
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. ( 28275661 )
2017
38
Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. ( 28801086 )
2017
39
'Leukodystrophy-like' phenotype in children with myelin oligodendrocyte glycoprotein antibody-associated disease. ( 29288492 )
2017
40
Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy. ( 28077719 )
2017
41
Messenger RNA processing is altered in autosomal dominant leukodystrophy. ( 28934398 )
2017
42
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis. ( 28769756 )
2017
43
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. ( 28667691 )
2017
44
Lissencephaly-pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain. ( 28904573 )
2017
45
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. ( 27860360 )
2017
46
Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers. ( 28470589 )
2017
47
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder. ( 29111560 )
2017
48
Leukodystrophy Presenting as Hyperactivity and Bipolarity with Uncommon Adverse Drug Reaction. ( 28515562 )
2017
49
Lumbago and alopecia in a patient with leukodystrophy: think on CARASIL. ( 27487381 )
2016
50
Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations. ( 27638602 )
2016

Variations for Leukodystrophy

ClinVar genetic disease variations for Leukodystrophy:

6
# 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
# 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

GO Terms for Leukodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 9.46 GJC2 HSPD1 PLP1 TUBB4A
2 lysosomal lumen GO:0043202 9.43 ARSA GALC PSAP
3 DNA-directed RNA polymerase III complex GO:0005666 9.13 POLR1C POLR3A POLR3B
4 eukaryotic translation initiation factor 2B complex GO:0005851 8.92 EIF2B2 EIF2B3 EIF2B4 EIF2B5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of molecular function GO:0065009 9.88 EIF2B2 EIF2B3 EIF2B4 EIF2B5 PLEKHG2
2 translation GO:0006412 9.87 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 translational initiation GO:0006413 9.81 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 response to glucose GO:0009749 9.73 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5 positive regulation of type I interferon production GO:0032481 9.71 POLR1C POLR3A POLR3B
6 response to peptide hormone GO:0043434 9.71 EIF2B2 EIF2B3 EIF2B4 EIF2B5
7 glycosphingolipid metabolic process GO:0006687 9.7 ARSA GALC PSAP
8 ovarian follicle development GO:0001541 9.67 EIF2B2 EIF2B4 EIF2B5
9 transcription by RNA polymerase III GO:0006383 9.63 POLR1C POLR3A POLR3B
10 response to heat GO:0009408 9.62 EIF2B2 EIF2B3 EIF2B4 EIF2B5
11 positive regulation of interferon-beta production GO:0032728 9.58 POLR3A POLR3B
12 astrocyte development GO:0014002 9.56 EIF2B5 PLP1
13 cellular metabolic process GO:0044237 9.55 EIF2B2 EIF2B4
14 central nervous system myelination GO:0022010 9.54 NKX6-2 PLP1 SOX10
15 negative regulation of translational initiation in response to stress GO:0032057 9.43 EIF2B3 EIF2B4 EIF2B5
16 myelination GO:0042552 9.35 EIF2B2 EIF2B4 EIF2B5 FAM126A PLP1
17 cellular response to stimulus GO:0051716 9.33 EIF2B2 EIF2B3 EIF2B4
18 oligodendrocyte development GO:0014003 9.02 EIF2B2 EIF2B3 EIF2B4 EIF2B5 SOX10

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

# 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
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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