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MCID: LKD001
MIFTS: 59

Leukodystrophy

Categories: Neuronal diseases, Rare 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 74 24 52 53 58 29 54 6 15 71
Leukodystrophies 42

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:10579
ICD9CM 34 330.0
NCIt 49 C61253
SNOMED-CT 67 5101009
ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 72 C0023520
Orphanet 58 ORPHA68356
UMLS 71 C0023520
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Summaries for Leukodystrophy

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NINDS : 53 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 polr3-related leukodystrophy, 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 Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are Reduced mammosphere formation and behavior/neurological

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

NIH Rare Diseases : 52 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 : 42 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 : 74 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 494)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 35.6 PSAP PLP1 GALC ARSA
2 polr3-related leukodystrophy 35.4 POLR3B POLR3A POLR1C
3 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 35.3 PSAP POLR3B POLR3A PLP1 GJC2
4 hypomyelinating leukodystrophy 35.2 TUBB4A POLR3B POLR3A POLR1C PLP1 GJC2
5 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 35.2 POLR3B POLR3A PLP1 GJC2
6 leukodystrophy, hypomyelinating, 2 35.2 PLP1 GJC2 FA2H
7 leukodystrophy, hypomyelinating, 4 35.1 POLR3A PLP1 GJC2
8 leukodystrophy, hypomyelinating, 5 35.1 TUBB4A PLP1 GJC2
9 leukodystrophy, hypomyelinating, 9 34.9 POLR3A GJC2
10 leukodystrophy, hypomyelinating, 11 34.9 POLR3B POLR1C
11 krabbe disease 34.8 PSAP PLP1 GALC ARSA
12 leukodystrophy, hypomyelinating, 10 34.8 POLR3B POLR3A
13 leukoencephalopathy with vanishing white matter 34.6 POLR3B POLR3A PLP1 GJC2 EIF2B5 EIF2B4
14 metachromatic leukodystrophy, late infantile form 34.4 PSAP ARSA
15 metachromatic leukodystrophy, juvenile form 34.2 PSAP ARSA
16 metachromatic leukodystrophy, adult form 34.2 PSAP ARSA
17 pelizaeus-merzbacher-like disease 33.3 PLP1 GJC2
18 infantile krabbe disease 33.3 PSAP GALC
19 sphingolipidosis 33.2 PSAP GALC ARSA
20 spastic paraplegia 2, x-linked 32.7 PLP1 GJC2 FA2H
21 childhood ataxia with central nervous system hypomyelination / vanishing white matter 31.4 EIF2B5 EIF2B4 EIF2B3 EIF2B2
22 gaucher disease, type i 31.4 PSAP GALC ARSA
23 gm1 gangliosidosis 31.3 PSAP GALC ARSA
24 hereditary spastic paraplegia 31.2 TUBB4A PLP1 GJC2 GALC FA2H
25 lipid storage disease 31.2 PSAP GALC ARSA
26 cerebral degeneration 31.2 TREX1 SOX10 POLR3B POLR3A PLP1 LMNB1
27 charcot-marie-tooth disease 30.7 SOX10 PLP1 LMNB1 GJC2 EPRS1
28 premature ovarian failure 1 30.5 EIF2B5 EIF2B4 EIF2B2
29 megalencephalic leukoencephalopathy with subcortical cysts 2a 30.3 TUBB4A PLP1
30 leukodystrophy, demyelinating, adult-onset, autosomal dominant 12.7
31 autosomal dominant leukodystrophy with autonomic disease 12.7
32 leukodystrophy, hypomyelinating, 6 12.7
33 vasculopathy, retinal, with cerebral leukodystrophy 12.6
34 leukodystrophy, hypomyelinating, 3 12.6
35 metachromatic leukodystrophy due to saposin b deficiency 12.6
36 tubb4a-related leukodystrophy 12.6
37 leukodystrophy, hypomyelinating, 16 12.5
38 leukodystrophy, hypomyelinating, 18 12.5
39 leukodystrophy, hypomyelinating, 15 12.5
40 leukodystrophy, progressive, early childhood-onset 12.5
41 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 12.5
42 leukodystrophy, hypomyelinating, 13 12.5
43 leukodystrophy, hypomyelinating, 12 12.4
44 leukodystrophy, hypomyelinating, 14 12.4
45 leukodystrophy and acquired microcephaly with or without dystonia 12.4
46 leukodystrophy, hypomyelinating, 17 12.4
47 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy 12.4
48 pelizaeus-merzbacher disease 12.3
49 alexander disease 12.2
50 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a 12.2

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:


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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 EIF2B2 EIF2B4 EIF2B5 GALC PLP1 PSAP

MGI Mouse Phenotypes related to Leukodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ARSA DEGS1 EIF2B4 EIF2B5 FA2H GALC
2 mortality/aging MP:0010768 10.06 DEGS1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EPRS1
3 hematopoietic system MP:0005397 10.03 ARSA DEGS1 EIF2B2 EIF2B3 EIF2B5 GALC
4 nervous system MP:0003631 9.7 ARSA EIF2B4 EIF2B5 FA2H GALC GJC2
5 vision/eye MP:0005391 9.28 EIF2B4 EIF2B5 FA2H GALC GJC2 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 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
7
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
8
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
9 Alkylating Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3
11 Antirheumatic Agents Phase 2, Phase 3
12 Immunologic Factors Phase 2, Phase 3
13 Antilymphocyte Serum Phase 2, Phase 3
14 Methylprednisolone Acetate Phase 2, Phase 3
15
tannic acid Approved Phase 2 1401-55-4
16
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
18
Mycophenolic acid Approved Phase 2 24280-93-1 446541
19
Mesna Approved, Investigational Phase 2 3375-50-6 598
20
Hydroxyurea Approved Phase 2 127-07-1 3657
21
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
22
Melphalan Approved Phase 2 148-82-3 4053 460612
23
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
24
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
25
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
26
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
27
rituximab Approved Phase 2 174722-31-7 10201696
28
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
29
Emtricitabine Approved, Investigational Phase 1, Phase 2 143491-57-0 60877
30
alemtuzumab Approved, Investigational Phase 2 216503-57-0
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32 Tocotrienol Investigational Phase 2 6829-55-6
33
Tenofovir Experimental, Investigational Phase 1, Phase 2 147127-20-6 464205
34 Dermatologic Agents Phase 2
35 Cyclosporins Phase 2
36 Calcineurin Inhibitors Phase 2
37 Anti-Bacterial Agents Phase 2
38 Antitubercular Agents Phase 2
39 Antibiotics, Antitubercular Phase 2
40 Antipsychotic Agents Phase 2
41 Fingolimod Hydrochloride Phase 2
42 Antimetabolites Phase 2
43 N-monoacetylcystine Phase 2
44 Tocopherols Phase 2
45 Alpha-lipoic Acid Phase 2
46 Tocotrienols Phase 2
47 Thioctic Acid Phase 2
48 Reverse Transcriptase Inhibitors Phase 1, Phase 2
49 Anti-Retroviral Agents Phase 1, Phase 2
50 Antiviral Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
3 A Phase I/II, Open Labeled, Monocentric Study of Direct Intracranial Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human ARSA cDNA to Children With Metachromatic Leukodystrophy. Unknown status NCT01801709 Phase 1, Phase 2
4 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
5 A Phase I/II Multicenter Open-label Dose Escalation Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy Completed NCT01510028 Phase 1, Phase 2
6 A Single Center, Open-Label, Non-Randomized, Uncontrolled, Multiple-Dose, Dose Escalation Study of the Safety, Pharmacokinetics, Efficacy and Long Term Safety of HGT-1111 (Recombinant Human Arylsulfatase A [rhASA, Metazym]) for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00633139 Phase 1, Phase 2
7 and Safety of METAZYM (Recombinant Human Arylsulfatase A or rhASA) for the Treatment of Patients With Late Infantile MLD Who Had Previously Hematopoietic Stem Cell Transplantation Completed NCT01303146 Phase 2 rhARSA
8 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
10 Safety and Efficacy of Fingolimod in Schizophrenia Patients Who Have Suboptimal Responses to Antipsychotic Drug Treatment Completed NCT01779700 Phase 2 Fingolimod;placebo
11 A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects With Late Infantile Metachromatic Leukodystrophy Recruiting NCT03771898 Phase 2 SHP611
12 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
13 A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD) Recruiting NCT03392987 Phase 2
14 A Phase 2, Single-arm, Open-label Study to Evaluate the Safety and Efficacy of MGTA-456 in Patients With Inherited Metabolic Disorders (IMD) Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
15 A Phase I/II Clinical Trial of Lentiviral Hematopoietic Stem Cell Gene Therapy for Treatment of Developed Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
16 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
17 A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Treatment of Metachromatic Leukodystrophy Active, not recruiting NCT01560182 Phase 1, Phase 2
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 An Open-Label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients With Metachromatic Leukodystrophy Active, not recruiting NCT01887938 Phase 1, Phase 2
20 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Active, not recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
21 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
22 A Multi-center, Open-Label Extension Study of HGT-1111 (Recombinant Human Arylsulfatase A or rhASA) Treatment in Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Terminated NCT00681811 Phase 2 HGT-1111
23 Evaluation of the Tolerance and Efficiency of a Combined Oral Therapy With Lithium and GTA in Patients With Canavan Disease Withdrawn NCT00657748 Phase 2 Lithium Gluconate (drug) Glyceryl Triacetate GTA (drug)
24 A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs) for Transplantation in Pediatric and Adult Patients With Hematologic Malignancies and Other Indications Withdrawn NCT01479582 Phase 2 Access to unlicensed cord blood units
25 A Single-Arm Study to Assess the Safety of Transplantation With Human Placental-Derived Stem-Cells Combined With Unrelated and Related Cord Blood in Subjects With Certain Malignant Hematologic Diseases and Non-Malignant Disorders Unknown status NCT01586455 Phase 1 Human Placental Derived Stem Cell
26 A Single Center, Open-label, Non-randomized, Uncontrolled, Multiple-dose, Dose Escalation Study of the Safety, Pharmacokinetics and Efficacy of Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD) Completed NCT00418561 Phase 1 rhASA
27 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
28 A Pilot Study of Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy (RVCL) Active, not recruiting NCT02723448 Phase 1 aclarubicin
29 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Active, not recruiting NCT02595489 Phase 1
30 Treatment of Early Infantile-Onset Lysosomal Storage Diseases With Fetal Umbilical Cord Blood (UCB) Transplantation Withdrawn NCT01003912 Phase 1
31 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
32 The Nosology and Etiology of Leukodystrophies of Unknown Cause Completed NCT00001671
33 Leukodystrophies of Unknown Cause Completed NCT00889174
34 The Etiology, Pathogenesis, and Natural History of the Leukodystrophies Completed NCT02843555
35 A Longitudinal Observational Study That Will Evaluate Prospectively Clinical and Surrogate Parameters That Are Affected in Infant Patients With Globoid Cell Leukodystrophy Completed NCT00983879
36 Unrelated Donor Bone Marrow Transplantation for Definitive Treatment of Patients With Phosphoglycerate Kinase (PGK) Deficiency Completed NCT00592540
37 Effect of Warfarin in the Treatment of Metachromatic Leukodystrophy Completed NCT00683189 Warfarin
38 Study of the Natural History of Cerebral White Matter Involvement in Metachromatic Leukodystrophy, Using High-field MRI and Diffusion Tensor Imaging Completed NCT01325025
39 Stem Cell Transplantation (SCT) for Genetic Diseases Completed NCT00004378
40 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
41 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
42 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
43 Identification of a New Gene Involved in Hereditary Lipodystrophy - LIPOGENE Completed NCT02056912
44 The Etiology and Pathogenesis of Neurometabolic Disorders Completed NCT00016562
45 Stimulation of the Human Central and Peripheral Nervous System With a Magnetic Stimulator Completed NCT00001780
46 Exercise Study of Function and Pathology for Women With X-ALD Completed NCT01594853
47 A Natural History Study of Canavan Disease: MGH Site Completed NCT02851563
48 Effect of Task on Oral Pressure Dynamics During Swallowing Completed NCT00013832
49 Natural History, Diagnosis, and Outcomes for Leukodystrophies Recruiting NCT03639285
50 New Diagnostic Approaches in Leukodystrophy: The Myelin Disorders Biorepository and Natural History Project Recruiting NCT03047369

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:

40
Brain, Bone, Bone Marrow, Spinal Cord, Testes, Liver, Skin
Sources

Publications for Leukodystrophy

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Articles related to Leukodystrophy:

(show top 50) (show all 3100)
# Title Authors PMID Year
1
GALC mutations in Chinese patients with late-onset Krabbe disease: a case report. 61 42
31185936 2019
2
Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers. 61 42
31036045 2019
3
The burden of inherited leukodystrophies in children. 61 24
20660364 2010
4
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. 61 24
19797797 2009
5
Leukodystrophy incidence in Germany. 61 24
9286459 1997
6
Chenodeoxycholic Acid: An Update on Its Therapeutic Applications. 42
31267167 2019
7
SOX10 structure-function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies. 54 61
20308050 2010
8
Fatty acid 2-Hydroxylation in mammalian sphingolipid biology. 54 61
20026285 2010
9
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. 54 61
19961535 2010
10
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). 54 61
20104589 2010
11
MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation. 54 61
19931615 2010
12
Peptidomics analysis of lymphoblastoid cell lines. 54 61
20013214 2010
13
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders. 54 61
20016818 2009
14
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1. 54 61
19562355 2009
15
SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old. 54 61
19805825 2009
16
Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. 54 61
19332366 2009
17
miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination. 54 61
19259393 2009
18
Invited article: an MRI-based approach to the diagnosis of white matter disorders. 24
19237705 2009
19
The ovarioleukodystrophy. 54 61
18678442 2008
20
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. 54 61
18757878 2008
21
Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS. 54 61
18987190 2008
22
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. 54 61
19068277 2008
23
PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. 54 61
18470932 2008
24
Hearing profile and MRI myelination of auditory pathway in Pelizaeus-Merzbacher disease. 54 61
18421608 2008
25
Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea. 54 61
18437021 2008
26
Genetic and clinical heterogeneity in eIF2B-related disorder. 54 61
18263758 2008
27
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 54 61
17999358 2007
28
Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. 54 61
17855451 2007
29
"Laminopathies": a wide spectrum of human diseases. 54 61
17467691 2007
30
N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology. 54 61
17275978 2007
31
Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease. 54 61
17038307 2006
32
Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. 54 61
17065456 2006
33
Lamin B1 duplications cause autosomal dominant leukodystrophy. 54 61
16951681 2006
34
Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease. 54 61
16844304 2006
35
Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. 54 61
17177147 2006
36
Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. 54 61
16378743 2006
37
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. 54 61
16416265 2006
38
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. 54 61
16504559 2006
39
Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients. 54 61
16041584 2005
40
Atypical MRI findings in Canavan disease: a patient with a mild course. 54 61
16217711 2005
41
Disorders of nuclear-mitochondrial intergenomic signaling. 54 61
15921863 2005
42
EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. 54 61
15723074 2005
43
Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. 54 61
15390001 2004
44
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. 54 61
15054402 2004
45
The effect of genotype on the natural history of eIF2B-related leukodystrophies. 54 61
15136673 2004
46
Alexander disease: a leukodystrophy caused by a mutation in GFAP. 54 61
15139294 2004
47
The latest on leukodystrophies. 54 61
15021247 2004
48
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. 54 61
15037685 2004
49
Globoid cell leukodystrophy (Krabbe's disease): update. 54 61
14572137 2003
50
Canavan disease: a monogenic trait with complex genomic interaction. 54 61
14567959 2003
Sources

Variations for Leukodystrophy

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ClinVar genetic disease variations for Leukodystrophy:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)SNV Pathogenic 598970 rs113994063 3:183858305-183858305 3:184140517-184140517
2 DEGS1 NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)SNV Pathogenic 625852 rs768180196 1:224377960-224377960 1:224190258-224190258
3 TMEM63A NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu)SNV Pathogenic 689459 1:226055599-226055599 1:225867899-225867899
4 TMEM63A NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn)SNV Pathogenic 689460 1:226044710-226044710 1:225857010-225857010
5 TMEM63A NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)SNV Pathogenic 689461 1:226041428-226041428 1:225853727-225853727
6 ARSA NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)SNV Pathogenic/Likely pathogenic 3080 rs74315475 22:51064461-51064461 22:50626033-50626033
7 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser)SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393
8 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr)SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523
9 AIFM1 NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)SNV Likely pathogenic 373913 rs761953453 X:129264069-129264069 X:130130094-130130094
10 RNF216 NM_207111.4(RNF216):c.2061G>A (p.Lys687=)SNV Likely pathogenic 183356 rs730882248 7:5751392-5751392 7:5711761-5711761
11 KARS1 NM_001130089.1(KARS1):c.1577C>T (p.Ala526Val)SNV Conflicting interpretations of pathogenicity 694746 16:75663371-75663371 16:75629473-75629473
12 SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu)SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 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 523282 6:12536624-13968949
14 MEN1 NM_000244.3(MEN1):c.1633C>T (p.Pro545Ser)SNV Uncertain significance 200987 rs745404679 11:64572021-64572021 11:64804549-64804549

Copy number variations for Leukodystrophy from CNVD:

7
# CNVD ID Chromosome 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 65
Show member pathways
 12.03 TREX1 POLR3B POLR3A POLR1C
2
Sphingolipid metabolism 65 36 1
Show member pathways
 11.76 PSAP GALC FA2H DEGS1 ARSA
3
RNA transport 36
11.67 EIF2B5 EIF2B4 EIF2B3 EIF2B2
4
Lysosome 36
11.63 PSAP GALC ARSA
5
ATP/ITP metabolism 22
11.36 POLR3B POLR3A POLR1C
6
Translation Factors 1
Show member pathways
 10.71 EIF2B5 EIF2B4 EIF2B3 EIF2B2
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 lysosomal lumen GO:0043202 9.43 PSAP GALC ARSA
2 myelin sheath GO:0043209 9.33 TUBB4A PLP1 GJC2
3 RNA polymerase III complex GO:0005666 9.13 POLR3B POLR3A POLR1C
4 eukaryotic translation initiation factor 2B complex GO:0005851 8.92 EIF2B5 EIF2B4 EIF2B3 EIF2B2

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 9.85 EPRS1 EIF2B5 EIF2B4 EIF2B3 EIF2B2
2 T cell receptor signaling pathway GO:0050852 9.81 EIF2B5 EIF2B4 EIF2B3 EIF2B2
3 translational initiation GO:0006413 9.8 EIF2B5 EIF2B4 EIF2B3 EIF2B2
4 transcription, DNA-templated GO:0006351 9.74 POLR3B POLR3A POLR1C
5 positive regulation of type I interferon production GO:0032481 9.7 POLR3B POLR3A POLR1C
6 glycosphingolipid metabolic process GO:0006687 9.65 PSAP GALC ARSA
7 response to glucose GO:0009749 9.62 EIF2B5 EIF2B4 EIF2B3 EIF2B2
8 ovarian follicle development GO:0001541 9.61 EIF2B5 EIF2B4 EIF2B2
9 transcription by RNA polymerase III GO:0006383 9.58 POLR3B POLR3A POLR1C
10 astrocyte development GO:0014002 9.56 PLP1 EIF2B5
11 response to peptide hormone GO:0043434 9.56 EIF2B5 EIF2B4 EIF2B3 EIF2B2
12 central nervous system myelination GO:0022010 9.55 SOX10 PLP1
13 cellular metabolic process GO:0044237 9.54 EIF2B4 EIF2B2
14 response to heat GO:0009408 9.46 EIF2B5 EIF2B4 EIF2B3 EIF2B2
15 galactosylceramide catabolic process GO:0006683 9.37 PSAP GALC
16 oligodendrocyte development GO:0014003 9.35 SOX10 EIF2B5 EIF2B4 EIF2B3 EIF2B2
17 myelination GO:0042552 9.1 PSAP PLP1 GALC EIF2B5 EIF2B4 EIF2B2

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 POLR3B POLR3A EIF2B3
2 guanyl-nucleotide exchange factor activity GO:0005085 9.46 EIF2B5 EIF2B4 EIF2B3 EIF2B2
3 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.43 POLR3B POLR3A POLR1C
4 translation initiation factor binding GO:0031369 9.37 EIF2B5 EIF2B4
5 RNA polymerase III activity GO:0001056 9.13 POLR3B POLR3A POLR1C
6 translation initiation factor activity GO:0003743 8.92 EIF2B5 EIF2B4 EIF2B3 EIF2B2
Sources

Sources for Leukodystrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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