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MCID: LKD001
MIFTS: 57

Leukodystrophy

Categories: Rare diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Leukodystrophy

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MalaCards integrated aliases for Leukodystrophy:

Name: Leukodystrophy 12 76 24 53 54 29 55 6 15 73
Leukodystrophies 43

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:10579
ICD9CM 35 330.0
NCIt 50 C61253
UMLS 73 C0023520
Sources

Summaries for Leukodystrophy

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NINDS : 54 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 back pain, headache and pain. An important gene associated with Leukodystrophy is GALC (Galactosylceramidase), and among its related pathways/superpathways are Cytosolic sensors of pathogen-associated DNA 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 Decreased viability and Decreased viability

NIH Rare Diseases : 53 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.

MedlinePlus : 43 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 : 76 Leukodystrophy is one of a group of disorders characterized by degeneration of the white matter in the... more...

GeneReviews: NBK184570
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Related Diseases for Leukodystrophy

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Diseases in the Leukodystrophy family:

Tubb4a-Related Leukodystrophy

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

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 34.5 ARSA GALC PLP1 PSAP
2 pol iii-related leukodystrophies 34.3 POLR1C POLR3A POLR3B
3 krabbe disease 34.0 ARSA GALC PSAP
4 metachromatic leukodystrophy, adult form 33.8 ARSA PSAP
5 metachromatic leukodystrophy, late infantile form 33.8 ARSA PSAP
6 metachromatic leukodystrophy, juvenile form 33.8 ARSA PSAP
7 leukodystrophy, hypomyelinating, 5 33.6 FAM126A PLP1 TUBB4A
8 leukodystrophy, hypomyelinating, 2 33.5 FA2H GJC2 PLP1
9 leukodystrophy, hypomyelinating, 4 33.3 GJC2 HSPD1 PLP1
10 infantile krabbe disease 32.9 GALC PSAP
11 leukoencephalopathy with vanishing white matter 32.3 EIF2B2 EIF2B3 EIF2B4 EIF2B5
12 sphingolipidosis 31.8 ARSA GALC PSAP
13 pelizaeus-merzbacher-like disease 31.8 GJC2 PLP1
14 spastic paraplegia 2, x-linked 31.0 GJC2 PLP1
15 hypomyelinating leukodystrophy 29.3 FAM126A GJC2 HSPD1 NKX6-2 PLP1 POLR1C
16 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.4
17 leukodystrophy, hypomyelinating, 6 12.3
18 autosomal dominant leukodystrophy with autonomic disease 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 12.2
26 leukodystrophy, hypomyelinating, 13 12.1
27 leukodystrophy, hypomyelinating, 10 12.1
28 leukodystrophy, hypomyelinating, 11 12.1
29 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.1
30 leukodystrophy, hypomyelinating, 12 12.1
31 leukodystrophy, progressive, early childhood-onset 12.1
32 leukodystrophy and acquired microcephaly with or without dystonia 12.1
33 leukodystrophy, hypomyelinating, 16 12.0
34 leukodystrophy, hypomyelinating, 14 12.0
35 leukodystrophy, hypomyelinating, 15 12.0
36 leukodystrophy, hypomyelinating, 17 12.0
37 pelizaeus-merzbacher disease 12.0
38 polr3-related leukodystrophy 11.9
39 alexander disease 11.9
40 leigh syndrome with leukodystrophy 11.8
41 adrenoleukodystrophy 11.7
42 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a 11.7
43 leukodystrophy, pseudometachromatic 11.7
44 megalencephalic leukoencephalopathy with subcortical cysts 1 11.7
45 spastic paraplegia 35, autosomal recessive 11.6
46 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 11.5
47 canavan disease 11.4
48 zellweger syndrome 11.4
49 leukoencephalopathy, hereditary diffuse, with spheroids 11.4
50 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 11.3

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
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Symptoms & Phenotypes for Leukodystrophy

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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 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.34 SOX10 POLR3B
2 Decreased viability GR00381-A-1 10.34 EIF2B5 FA2H
3 Decreased viability GR00402-S-2 10.34 SOX10 TREX1 TUBB4A POLR3A POLR3B PSAP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.25 HSPD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.25 TUBB4A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.25 EIF2B2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.25 EIF2B5 EIF2B2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.25 EIF2B5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.25 HSPD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.25 TUBB4A HSPD1 EIF2B5 EIF2B2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.25 EIF2B5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.25 EIF2B5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.25 TUBB4A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.25 HSPD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.25 TUBB4A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.25 EIF2B2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.25 EIF2B5
18 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.25 EIF2B2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.25 EIF2B2 HSPD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.25 EIF2B2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.25 EIF2B2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.25 TUBB4A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.25 HSPD1
24 no effect GR00402-S-1 9.96 TREX1 TUBB4A POLR3A POLR3B PSAP SOX10
25 Reduced mammosphere formation GR00396-S 9.23 TREX1 PSAP HSPD1 EIF2B4 EIF2B5 PLP1

MGI Mouse Phenotypes related to Leukodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 FA2H GALC GJC2 HSPD1 NKX6-2 PLP1
2 hematopoietic system MP:0005397 9.85 GALC GJC2 LMNB1 PLP1 ARSA PSAP
3 nervous system MP:0003631 9.7 GALC GJC2 HSPD1 LMNB1 NKX6-2 PLP1
4 vision/eye MP:0005391 9.17 TREX1 FA2H GALC GJC2 NKX6-2 PLP1
Sources

Drugs & Therapeutics for Leukodystrophy

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

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5
Altretamine Approved Phase 3 645-05-6 2123
6
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
7 Alkylating Agents Phase 2, Phase 3,Not Applicable
8 Antilymphocyte Serum Phase 2, Phase 3
9 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
10 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
11 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
12 Methylprednisolone acetate Phase 2, Phase 3
13 Methylprednisolone Hemisuccinate Phase 2, Phase 3
14 Prednisolone acetate Phase 2, Phase 3
15 Prednisolone hemisuccinate Phase 2, Phase 3
16 Prednisolone phosphate Phase 2, Phase 3
17
Ethylene Phase 3 74-85-1 6325
18 Pharmaceutical Solutions Phase 3
19
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
20
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
21
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
24
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
25
Mesna Approved, Investigational Phase 2 3375-50-6 598
26
Mycophenolate mofetil Approved, Investigational Phase 2,Not Applicable 128794-94-5 5281078
27
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
28
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
29
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
30
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
31
rituximab Approved Phase 2 174722-31-7 10201696
32
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
33
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
34
Emtricitabine Approved, Investigational Phase 1, Phase 2 143491-57-0 60877
35 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
36
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
37
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
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
Vitamin D3 Approved, Nutraceutical Phase 1, Phase 2,Phase 2 67-97-0 6221 5280795
41 Antifungal Agents Phase 2,Not Applicable
42 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
43 Antimetabolites Phase 2,Not Applicable
44 Antimetabolites, Antineoplastic Phase 2,Not Applicable
45 Calcineurin Inhibitors Phase 2,Not Applicable
46 Cyclosporins Phase 2,Not Applicable
47 Dermatologic Agents Phase 2,Not Applicable
48 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
49 Anti-Bacterial Agents Phase 2,Phase 1,Not Applicable
50 Antibiotics, Antitubercular Phase 2,Phase 1,Not Applicable

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 Not Applicable
31 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
32 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Not Applicable 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 Not Applicable
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 Not Applicable
40 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
41 Magnetic Stimulation of the Human Nervous System Completed NCT00001780
42 Natural History of the Leukodystrophies Recruiting NCT02843555
43 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Recruiting NCT02699190 Not Applicable
44 The Myelin Disorders Biorepository Project Recruiting NCT03047369
45 Krabbe Disease Global Patient Registry Recruiting NCT02993796
46 Natural History and Outcome Measures in Alexander Disease Recruiting NCT02714764
47 Biomarker for Krabbe Disease Recruiting NCT01425489
48 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
49 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
50 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186

Search NIH Clinical Center for Leukodystrophy

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Genetic Tests for Leukodystrophy

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Genetic tests related to Leukodystrophy:

# Genetic test Affiliating Genes
1 Leukodystrophy 29
Sources

Anatomical Context for Leukodystrophy

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MalaCards organs/tissues related to Leukodystrophy:

41
Brain, Bone, Bone Marrow, Spinal Cord, Testes, Skin, Liver
Sources

Publications for Leukodystrophy

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Articles related to Leukodystrophy:

(show top 50) (show all 988)
# Title Authors Year
1
Vanishing white matter: a leukodystrophy due to astrocytic dysfunction. ( 29740943 )
2018
2
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. ( 29297947 )
2018
3
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. ( 29466841 )
2018
4
Neuromyelitis optica spectrum disorder mimicking extensive leukodystrophy. ( 29676204 )
2018
5
Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy. ( 29340559 )
2018
6
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. ( 29681101 )
2018
7
ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins. ( 29767723 )
2018
8
Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis? ( 29913002 )
2018
9
Subacute onset leukodystrophy and visual-spatial disorders revealing phenylketonuria combined with homocysteinmia in adulthood: A case report. ( 29465562 )
2018
10
Intrathecal baclofen in metachromatic leukodystrophy. ( 29806077 )
2018
11
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hot spot. ( 29444210 )
2018
12
Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. ( 29444246 )
2018
13
Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model. ( 29456021 )
2018
14
Phenotypic Variability in a Mexican Mestizo Family with Retinal Vasculopathy with Cerebral Leukodystrophy and TREX1 Mutation p.V235Gfs*6. ( 29718010 )
2018
15
Diffusion tensor imaging in metachromatic leukodystrophy. ( 29383515 )
2018
16
Case Report: Cerebral leukodystrophy and the gonadal endocrinopathy: a rare but real association. ( 29721306 )
2018
17
Gallbladder Polyps in Metachromatic Leukodystrophy. ( 29494779 )
2018
18
Leukodystrophy with disorders of sex development due to WT1 mutations. ( 29801916 )
2018
19
Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy. ( 29322432 )
2018
20
Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy. ( 29899471 )
2018
21
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
22
Slowly Progressive Psychiatric Symptoms: ThinkA Metachromatic Leukodystrophy. ( 29413149 )
2018
23
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. ( 29544907 )
2018
24
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
25
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). ( 29316812 )
2018
26
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. ( 29314318 )
2018
27
Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter. ( 29285798 )
2018
28
Alexander disease: an astrocytopathy that produces a leukodystrophy. ( 29740945 )
2018
29
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
30
Metachromatic Leukodystrophy-Reply. ( 29913016 )
2018
31
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. ( 29576217 )
2018
32
Messenger RNA processing is altered in autosomal dominant leukodystrophy. ( 28934398 )
2017
33
Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy. ( 28589167 )
2017
34
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder. ( 29111560 )
2017
35
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene. ( 28493104 )
2017
36
Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers. ( 28470589 )
2017
37
A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence. ( 28791129 )
2017
38
Data on the effect of hypomyelinating leukodystrophy 6 (HLD6)-associated mutations on the TUBB4A properties. ( 28275661 )
2017
39
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. ( 27785568 )
2017
40
Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations. ( 29237946 )
2017
41
TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections. ( 29194508 )
2017
42
Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency. ( 28801086 )
2017
43
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. ( 28191778 )
2017
44
Gallbladder abnormalities in children with metachromatic leukodystrophy. ( 27993207 )
2017
45
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy. ( 28088283 )
2017
46
Ataxia With Hypodontia: A Unique Leukodystrophy. ( 29429779 )
2017
47
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I. ( 28560469 )
2017
48
Leukodystrophy: Basic and Clinical. ( 28674989 )
2017
49
Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale. ( 29757307 )
2017
50
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. ( 28667691 )
2017
Sources

Variations for Leukodystrophy

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ClinVar genetic disease variations for Leukodystrophy:

6
(show all 13)
# 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
2 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh38 Chromosome 22, 50626033: 50626033
3 RNF216 NM_207111.3(RNF216): c.2061G> A (p.Lys687=) single nucleotide variant Likely pathogenic rs730882248 GRCh38 Chromosome 7, 5711761: 5711761
4 RNF216 NM_207111.3(RNF216): c.2061G> A (p.Lys687=) single nucleotide variant Likely pathogenic rs730882248 GRCh37 Chromosome 7, 5751392: 5751392
5 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh38 Chromosome 14, 87968393: 87968393
6 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh37 Chromosome 14, 88434737: 88434737
7 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh38 Chromosome 14, 87988523: 87988523
8 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh37 Chromosome 14, 88454867: 88454867
9 AIFM1 NM_004208.3(AIFM1): c.1646C> T (p.Ala549Val) single nucleotide variant Likely pathogenic rs761953453 GRCh38 Chromosome X, 130130094: 130130094
10 AIFM1 NM_004208.3(AIFM1): c.1646C> T (p.Ala549Val) single nucleotide variant Likely pathogenic rs761953453 GRCh37 Chromosome X, 129264069: 129264069
11 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 135098913: 135098913
12 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 136016754: 136016754
13 GFOD1; MCUR1; NOL7; PHACTR1; RANBP9; RNF182; SIRT5; TBC1D7 GRCh37/hg19 6p24.1-23(chr6: 12536624-13968949) copy number gain Uncertain significance GRCh37 Chromosome 6, 12536624: 13968949

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
Sources

Expression for Leukodystrophy

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Search GEO for disease gene expression data for Leukodystrophy.
Sources

Pathways for Leukodystrophy

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Pathways related to Leukodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Cytosolic sensors of pathogen-associated DNA 66
Show member pathways
 11.97 POLR1C POLR3A POLR3B TREX1
2
Sphingolipid metabolism 66 37 1
Show member pathways
 11.86 ARSA FA2H GALC PSAP
3
Lysosome 37
11.59 ARSA GALC PSAP
4
RNA transport 37
11.49 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5
Translation Factors 1
Show member pathways
 10.72 EIF2B2 EIF2B3 EIF2B4 EIF2B5
Sources

GO Terms for Leukodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 9.43 GJC2 PLP1 TUBB4A
2 lysosomal lumen GO:0043202 9.33 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 17)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.86 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 regulation of molecular function GO:0065009 9.84 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 T cell receptor signaling pathway GO:0050852 9.81 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 translational initiation GO:0006413 9.76 EIF2B2 EIF2B3 EIF2B4 EIF2B5
5 positive regulation of type I interferon production GO:0032481 9.67 POLR1C POLR3A POLR3B
6 response to glucose GO:0009749 9.67 EIF2B2 EIF2B3 EIF2B4 EIF2B5
7 glycosphingolipid metabolic process GO:0006687 9.65 ARSA GALC PSAP
8 response to peptide hormone GO:0043434 9.62 EIF2B2 EIF2B3 EIF2B4 EIF2B5
9 ovarian follicle development GO:0001541 9.61 EIF2B2 EIF2B4 EIF2B5
10 transcription by RNA polymerase III GO:0006383 9.58 POLR1C POLR3A POLR3B
11 positive regulation of interferon-beta production GO:0032728 9.57 POLR3A POLR3B
12 astrocyte development GO:0014002 9.55 EIF2B5 PLP1
13 cellular metabolic process GO:0044237 9.52 EIF2B2 EIF2B4
14 response to heat GO:0009408 9.46 EIF2B2 EIF2B3 EIF2B4 EIF2B5
15 central nervous system myelination GO:0022010 9.43 NKX6-2 PLP1 SOX10
16 myelination GO:0042552 9.35 EIF2B2 EIF2B4 EIF2B5 FAM126A PLP1
17 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 guanyl-nucleotide exchange factor activity GO:0005085 9.46 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 DNA-directed 5-3 RNA polymerase activity GO:0003899 9.43 POLR1C POLR3A POLR3B
4 translation initiation factor binding GO:0031369 9.37 EIF2B4 EIF2B5
5 RNA polymerase III activity GO:0001056 9.13 POLR1C POLR3A POLR3B
6 translation initiation factor activity GO:0003743 8.92 EIF2B2 EIF2B3 EIF2B4 EIF2B5
Sources

Sources for Leukodystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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