MCID: LKD001
MIFTS: 57

Leukodystrophy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Leukodystrophy

MalaCards integrated aliases for Leukodystrophy:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:10579
ICD9CM 35 330.0
NCIt 50 C61253
SNOMED-CT 68 5101009
UMLS 73 C0023520

Summaries for Leukodystrophy

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 seizures, tremor and back 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 Methylprednisolone hemisuccinate 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

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

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

Wikipedia : 76 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:

Tubb4a-Related Leukodystrophy

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

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 34.4 PSAP PLP1 GALC ARSA
2 pol iii-related leukodystrophies 34.0 POLR3B POLR3A POLR1C
3 leukodystrophy, hypomyelinating, 4 33.9 PLP1 HSPD1 GJC2
4 leukodystrophy, hypomyelinating, 5 33.9 TUBB4A PLP1 FAM126A
5 leukodystrophy, hypomyelinating, 2 33.9 PLP1 GJC2 FA2H
6 krabbe disease 33.6 PSAP GALC ARSA
7 metachromatic leukodystrophy, juvenile form 33.3 PSAP ARSA
8 metachromatic leukodystrophy, late infantile form 33.2 PSAP ARSA
9 metachromatic leukodystrophy, adult form 33.2 PSAP ARSA
10 hypomyelinating leukodystrophy 33.1 TUBB4A POLR3B POLR3A POLR1C PLP1 NKX6-2
11 leukoencephalopathy with vanishing white matter 32.9 EIF2B5 EIF2B4 EIF2B3 EIF2B2
12 infantile krabbe disease 32.3 PSAP GALC
13 pelizaeus-merzbacher-like disease 31.8 PLP1 GJC2
14 sphingolipidosis 31.6 PSAP GALC ARSA
15 spastic paraplegia 2, x-linked 31.5 PLP1 GJC2
16 gangliosidosis gm1 30.0 PSAP ARSA
17 autosomal dominant leukodystrophy with autonomic disease 12.5
18 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.5
19 leukodystrophy, hypomyelinating, 6 12.5
20 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.5
21 vasculopathy, retinal, with cerebral leukodystrophy 12.5
22 leukodystrophy, hypomyelinating, 3 12.4
23 metachromatic leukodystrophy due to saposin b deficiency 12.4
24 tubb4a-related leukodystrophy 12.3
25 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.3
26 leukodystrophy, hypomyelinating, 9 12.3
27 leukodystrophy, hypomyelinating, 13 12.3
28 leukodystrophy, hypomyelinating, 10 12.3
29 leukodystrophy, hypomyelinating, 11 12.3
30 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.3
31 leukodystrophy, hypomyelinating, 16 12.3
32 leukodystrophy, hypomyelinating, 12 12.3
33 leukodystrophy, progressive, early childhood-onset 12.3
34 leukodystrophy, hypomyelinating, 15 12.2
35 leukodystrophy, hypomyelinating, 14 12.2
36 leukodystrophy and acquired microcephaly with or without dystonia 12.2
37 leukodystrophy, hypomyelinating, 17 12.2
38 pelizaeus-merzbacher disease 12.1
39 polr3-related leukodystrophy 12.1
40 alexander disease 12.1
41 leigh syndrome with leukodystrophy 12.0
42 megalencephalic leukoencephalopathy with subcortical cysts 1 11.9
43 adrenoleukodystrophy 11.9
44 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a 11.9
45 leukodystrophy, pseudometachromatic 11.9
46 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 11.9
47 spastic paraplegia 35, autosomal recessive 11.8
48 canavan disease 11.6
49 zellweger syndrome 11.6
50 leukoencephalopathy, hereditary diffuse, with spheroids 11.5

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:


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

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

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.34 POLR3B SOX10
2 Decreased viability GR00381-A-1 10.34 EIF2B5 FA2H
3 Decreased viability GR00402-S-2 10.34 ARSA EIF2B2 EIF2B3 EIF2B4 EIF2B5 FA2H
4 Decreased NANOG protein expression GR00184-A-3 10.28 EIF2B2 EIF2B3 EIF2B4
5 Decreased NANOG protein expression GR00184-A-6 10.28 EIF2B2 EIF2B3 EIF2B4
6 Decreased NANOG protein expression GR00184-A-8 10.28 EIF2B2 EIF2B3 EIF2B4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.25 HSPD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.25 TUBB4A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.25 EIF2B2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.25 EIF2B2 EIF2B5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.25 EIF2B5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.25 HSPD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.25 EIF2B2 EIF2B5 HSPD1 TUBB4A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.25 EIF2B5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.25 EIF2B5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.25 TUBB4A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.25 HSPD1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.25 TUBB4A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.25 EIF2B2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.25 EIF2B5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.25 EIF2B2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.25 EIF2B2 HSPD1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.25 EIF2B2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.25 EIF2B2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.25 TUBB4A
26 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.25 HSPD1
27 no effect GR00402-S-1 9.96 ARSA EIF2B2 EIF2B3 EIF2B4 EIF2B5 FA2H
28 Reduced mammosphere formation GR00396-S 9.23 EIF2B2 EIF2B4 EIF2B5 GALC HSPD1 PLP1

MGI Mouse Phenotypes related to Leukodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ARSA EIF2B4 EIF2B5 FA2H FAM126A GALC
2 hematopoietic system MP:0005397 9.96 ARSA EIF2B2 EIF2B3 EIF2B5 GALC GJC2
3 mortality/aging MP:0010768 9.93 EIF2B3 EIF2B4 EIF2B5 GALC GJC2 HSPD1
4 nervous system MP:0003631 9.73 ARSA EIF2B4 EIF2B5 FA2H GALC GJC2
5 vision/eye MP:0005391 9.28 EIF2B4 EIF2B5 FA2H GALC GJC2 NKX6-2

Drugs & Therapeutics for Leukodystrophy

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
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 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
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
8 Prednisolone acetate Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
10 Methylprednisolone acetate Phase 2, Phase 3
11 Alkylating Agents Phase 2, Phase 3,Not Applicable
12 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
13 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
14 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
15 Antilymphocyte Serum Phase 2, Phase 3
16
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
17
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
18 tannic acid Approved Phase 2,Not Applicable
19
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
20
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
21
Hydroxyurea Approved Phase 2 127-07-1 3657
22
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
23
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
24
Mesna Approved, Investigational Phase 2 3375-50-6 598
25
Altretamine Approved Phase 2 645-05-6 2123
26
Dimethyl sulfoxide Approved, Vet_approved Phase 2 67-68-5 679
27
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
28
rituximab Approved Phase 2 174722-31-7 10201696
29
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
30
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
31
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
32
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
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
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
36 Tocotrienol Investigational Phase 2 6829-55-6
37
Tenofovir Experimental, Investigational Phase 1, Phase 2 147127-20-6 464205
38 Calcineurin Inhibitors Phase 2,Not Applicable
39 Antifungal Agents Phase 2,Not Applicable
40 Dermatologic Agents Phase 2,Not Applicable
41 Antimetabolites, Antineoplastic Phase 2,Not Applicable
42 Anti-Infective Agents Phase 2,Phase 1,Not Applicable
43 Cyclosporins Phase 2,Not Applicable
44 Antimetabolites Phase 2,Not Applicable
45 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
46 Anti-Bacterial Agents Phase 2,Phase 1,Not Applicable
47 Antibiotics, Antitubercular Phase 2,Phase 1,Not Applicable
48 Antitubercular Agents Phase 2,Not Applicable
49
Ethylene Phase 2 74-85-1 6325
50 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD) Completed NCT01510028 Phase 1, Phase 2
4 Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00633139 Phase 1, Phase 2
5 Efficacy METAZYM for the Treatment Metachromatic Leukodystrophy Treated With Hematopoietic Stem Cell Transplantation Completed NCT01303146 Phase 2 rhARSA
6 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
7 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
8 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
9 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
10 A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD) Recruiting NCT03392987 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 Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy Active, not recruiting NCT01801709 Phase 1, Phase 2
15 An Efficacy and Safety Study of HGT-1110 in Metachromatic Leukodystrophy Participants Active, not recruiting NCT01887938 Phase 1, Phase 2
16 Gene Therapy for Metachromatic Leukodystrophy (MLD) Active, not recruiting NCT01560182 Phase 1, 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 A Study of Intrathecal SHP611 in Participants With Late Infantile Metachromatic Leukodystrophy Not yet recruiting NCT03771898 Phase 2 SHP611
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 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
25 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
26 Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy Active, not recruiting NCT02723448 Phase 1 aclarubicin
27 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
28 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
29 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
30 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
31 Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy Completed NCT01325025 Not Applicable
32 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
33 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Not Applicable Warfarin
34 The Nosology and Etiology of Leukodystrophies of Unknown Causes Completed NCT00889174
35 The Classification and Cause of Leukodystrophies of Unknown Cause Completed NCT00001671
36 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
37 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
38 Study of Tongue Pressures Completed NCT00013832
39 Cause and Pathogenesis of Neurometabolic Disorders Completed NCT00016562
40 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378 Not Applicable
41 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
42 Magnetic Stimulation of the Human Nervous System Completed NCT00001780
43 Natural History of the Leukodystrophies Recruiting NCT02843555
44 Natural History, Diagnosis, and Outcomes for Leukodystrophies Recruiting NCT03639285
45 Biomarker for Metachromatic Leukodystrophy Disease Recruiting NCT01536327
46 The Myelin Disorders Biorepository Project Recruiting NCT03047369
47 LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies Recruiting NCT02699190
48 Lentiviral Gene Therapy for MLD Recruiting NCT03725670 Not Applicable
49 Natural History Study of LBSL Recruiting NCT03624374
50 Krabbe Disease Global Patient Registry Recruiting NCT02993796

Search NIH Clinical Center for Leukodystrophy

Genetic Tests for Leukodystrophy

Genetic tests related to Leukodystrophy:

# Genetic test Affiliating Genes
1 Leukodystrophy 29

Anatomical Context for Leukodystrophy

MalaCards organs/tissues related to Leukodystrophy:

41
Brain, Bone, Bone Marrow, Spinal Cord, Testes, Skin, Kidney

Publications for Leukodystrophy

Articles related to Leukodystrophy:

(show top 50) (show all 1236)
# 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
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism. ( 30083362 )
2018
33
Juvenile Canavan Disease: A Leukodystrophy without White Matter Changes. ( 30304741 )
2018
34
Central Precocious Puberty in a Child With Metachromatic Leukodystrophy. ( 30197627 )
2018
35
Scope and Burden of Non-Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients. ( 30261790 )
2018
36
Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep. ( 30328384 )
2018
37
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes. ( 30046645 )
2018
38
Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene. ( 30052522 )
2018
39
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy. ( 30057904 )
2018
40
Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?-Reply. ( 30105388 )
2018
41
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins. ( 30113620 )
2018
42
Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy. ( 30192380 )
2018
43
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. ( 30258207 )
2018
44
Teaching NeuroImages: Distinctive imaging in a paucisymptomatic child with leukodystrophy. ( 30275131 )
2018
45
Drug Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy. ( 30279648 )
2018
46
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy. ( 30302924 )
2018
47
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients. ( 30323943 )
2018
48
An unusual presentation of gall bladder papillomatosis in association with metachromatic leukodystrophy. ( 30389742 )
2018
49
Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy. ( 30396834 )
2018
50
Adulthood leukodystrophies. ( 29302065 )
2018

Variations for Leukodystrophy

ClinVar genetic disease variations for Leukodystrophy:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh38 Chromosome 14, 87968393: 87968393
2 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh37 Chromosome 14, 88434737: 88434737
3 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh38 Chromosome 14, 87988523: 87988523
4 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh37 Chromosome 14, 88454867: 88454867
5 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 135098913: 135098913
6 SLC9A6 NM_001042537.1(SLC9A6): c.1346C> A (p.Ala449Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 136016754: 136016754
7 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
8 AIFM1 NM_004208.3(AIFM1): c.1646C> T (p.Ala549Val) single nucleotide variant Likely pathogenic rs761953453 GRCh37 Chromosome X, 129264069: 129264069
9 AIFM1 NM_004208.3(AIFM1): c.1646C> T (p.Ala549Val) single nucleotide variant Likely pathogenic rs761953453 GRCh38 Chromosome X, 130130094: 130130094
10 RNF216 NM_207111.3(RNF216): c.2061G> A (p.Lys687=) single nucleotide variant Likely pathogenic rs730882248 GRCh37 Chromosome 7, 5751392: 5751392
11 RNF216 NM_207111.3(RNF216): c.2061G> A (p.Lys687=) single nucleotide variant Likely pathogenic rs730882248 GRCh38 Chromosome 7, 5711761: 5711761
12 ARSA NM_000487.5(ARSA): c.1010A> T (p.Asp337Val) single nucleotide variant Pathogenic/Likely pathogenic rs74315475 GRCh38 Chromosome 22, 50626033: 50626033
13 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 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 16)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.84 EIF2B2 EIF2B3 EIF2B4 EIF2B5
2 translational initiation GO:0006413 9.8 EIF2B2 EIF2B3 EIF2B4 EIF2B5
3 T cell receptor signaling pathway GO:0050852 9.73 EIF2B2 EIF2B3 EIF2B4 EIF2B5
4 central nervous system development GO:0007417 9.72 ARSA EIF2B2 SOX10
5 response to glucose GO:0009749 9.67 EIF2B2 EIF2B3 EIF2B4 EIF2B5
6 ovarian follicle development GO:0001541 9.65 EIF2B2 EIF2B4 EIF2B5
7 transcription by RNA polymerase III GO:0006383 9.63 POLR1C POLR3A POLR3B
8 response to peptide hormone GO:0043434 9.62 EIF2B2 EIF2B3 EIF2B4 EIF2B5
9 glycosphingolipid metabolic process GO:0006687 9.58 ARSA GALC PSAP
10 positive regulation of interferon-beta production GO:0032728 9.56 POLR3A POLR3B
11 myelination GO:0042552 9.55 EIF2B2 EIF2B4 EIF2B5 FAM126A PLP1
12 astrocyte development GO:0014002 9.52 EIF2B5 PLP1
13 cellular metabolic process GO:0044237 9.51 EIF2B2 EIF2B4
14 central nervous system myelination GO:0022010 9.43 NKX6-2 PLP1 SOX10
15 response to heat GO:0009408 9.35 EIF2B2 EIF2B3 EIF2B4 EIF2B5 HSPD1
16 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 for Leukodystrophy

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
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