GLD
MCID: KRB001
MIFTS: 66

Krabbe Disease (GLD)

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

Aliases & Classifications for Krabbe Disease

MalaCards integrated aliases for Krabbe Disease:

Name: Krabbe Disease 58 39 12 77 25 54 26 55 60 76 38 13 56 15 41
Globoid Cell Leukodystrophy 58 12 25 54 55 60 74
Galactosylceramide Beta-Galactosidase Deficiency 58 12 54 76 30 6
Galc Deficiency 58 25 54 26 60 76
Globoid Cell Leukoencephalopathy 58 12 54 76
Galactocerebrosidase Deficiency 58 25 54 60
Gld 58 54 26 76
Leukodystrophy, Globoid Cell 77 76 45
Gcl 54 26 76
Diffuse Globoid Body Sclerosis 12 26
Krabbe Leukodystrophy 77 54
Galactosylceramidase Deficiency Disease 26
Globoid Cell Leukodystrophy; Gld; Gcl 58
Infantile Globoid Cell Leukodystrophy 74
Beta Galactocerebrosidase Deficiency 12
Galactosylcerebrosidase Deficiency 26
Galactosylsphingosine Lipidosis 26
Galactosylceramidase Deficiency 60
Galactosylceramide Lipidosis 26
Krabbe's Leukodystrophy 12
Psychosine Lipidosis 26
Krabbe's Disease 12

Characteristics:

Orphanet epidemiological data:

60
krabbe disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe),1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/100000 (Sweden); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

58
Miscellaneous:
episodic fever
four clinical forms of krabbe disease
infantile form has onset within first 6 months of life
infantile form accounts for 90% of cases
infantile form usually leads to death by age 2 years
late infantile form has onset between 19 months and 4 years
juvenile form has onset between 4 and 19 years
adult form onset has after 20 years
incidence of 1 in 100,000

Inheritance:
autosomal recessive


HPO:

33
krabbe disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Krabbe Disease

NIH Rare Diseases : 54 Krabbe disease is an inherited condition that affects the nervous system. The signs and symptoms of the condition and the disease severity differ by type. Babies affected by early-onset (infantile) Krabbe disease, the most common and severe form of the condition, typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include irritability; failure to thrive; slowed development; unexplained fevers; and progressive muscle weakness, hearing loss and vision loss. People affected by the late-onset forms may not develop symptoms until later in childhood, early adolescence or even into adulthood. Signs and symptoms of these forms are extremely variable but may include muscle weakness and rigidity; walking difficulties; vision loss; intellectual regression; and/or seizures. Krabbe disease is caused by changes (mutations) in the GALC gene and is inherited in an autosomal recessive manner. Treatment is generally based on the signs and symptoms present in each person; however, preliminary studies suggest that it may be beneficial to use hematopoietic stem cell transplantation (i.e. umbilical cord blood stem cells) as a treatment for patients in the early stages of infantile Krabbe disease and older people with mild symptoms.

MalaCards based summary : Krabbe Disease, also known as globoid cell leukodystrophy, is related to infantile krabbe disease and sphingolipidosis, and has symptoms including seizures, vomiting and hyperirritability. An important gene associated with Krabbe Disease is GALC (Galactosylceramidase), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and kidney, and related phenotypes are ataxia and spasticity

Genetics Home Reference : 26 Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system. Myelin is the protective covering around nerve cells that ensures the rapid transmission of nerve signals. Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus.

OMIM : 58 Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010). (245200)

NINDS : 55 Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells.  Krabbe disease, also called globoid cell leukodystrophy, is characterized by globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism.  The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.  Symptoms include: severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), spasticity (involuntary and awkward movement), unexplained fever, blindness, difficulty with swallowing, deafness.  

UniProtKB/Swiss-Prot : 76 Leukodystrophy, globoid cell: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.

Wikipedia : 77 Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a... more...

GeneReviews: NBK1238

Related Diseases for Krabbe Disease

Diseases in the Krabbe Disease family:

Infantile Krabbe Disease Late-Infantile/juvenile Krabbe Disease
Adult Krabbe Disease

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 infantile krabbe disease 34.0 GALC PSAP
2 sphingolipidosis 31.5 ARSA GALC PSAP
3 leukodystrophy 30.9 ARSA GALC PSAP
4 metachromatic leukodystrophy 30.3 ARSA GALC PSAP
5 central nervous system disease 29.8 CASP3 MBP SNCA
6 nervous system disease 29.3 CASP3 MBP SNCA
7 gaucher's disease 29.3 ARSA CHIT1 PSAP SNCA
8 krabbe disease, atypical, due to saposin a deficiency 12.6
9 adult krabbe disease 12.3
10 late-infantile/juvenile krabbe disease 12.2
11 lymphatic malformation 6 11.2
12 congenital generalized lipodystrophy 11.1
13 sturge-weber syndrome 11.1
14 spasticity 11.1
15 cerebral atrophy 11.1
16 hurler syndrome 10.4
17 autoimmune disease 10.3
18 distal trisomy 3p 10.3
19 peripheral nervous system disease 10.3
20 neuropathy 10.3
21 hematopoietic stem cell transplantation 10.2
22 influenza 10.2
23 congenital fiber-type disproportion 10.2
24 gaucher disease, type i 10.2 CHIT1 PSAP
25 aspartylglucosaminuria 10.1
26 fucosidosis 10.1
27 gaucher disease, type iii 10.1
28 graft-versus-host disease 10.1
29 hydrocephalus 10.1
30 mannosidosis 10.1
31 obstructive hydrocephalus 10.1
32 demyelinating disease 10.1
33 wallerian degeneration 10.1
34 tremor 10.1
35 spinocerebellar degeneration 10.1
36 glycoproteinosis 10.1 GAA PSAP
37 autoimmune disease 1 10.1
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
39 lymphoproliferative syndrome 10.1
40 niemann-pick disease 10.1 CHIT1 PSAP
41 bipolar disorder 10.1
42 depression 10.1
43 metachromatic leukodystrophy, late infantile form 10.1 ARSA PSAP
44 multiple sclerosis 10.1
45 metachromatic leukodystrophy, juvenile form 10.1 ARSA PSAP
46 metachromatic leukodystrophy, adult form 10.1 ARSA PSAP
47 inclusion-cell disease 10.1 ARSA PSAP
48 tay-sachs disease 10.0 ARSA PSAP
49 systemic lupus erythematosus 10.0
50 autoimmune lymphoproliferative syndrome, type v 10.0

Graphical network of the top 20 diseases related to Krabbe Disease:



Diseases related to Krabbe Disease

Symptoms & Phenotypes for Krabbe Disease

Human phenotypes related to Krabbe Disease:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
5 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
6 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
7 sensory neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000763
8 cloverleaf skull 60 33 hallmark (90%) Very frequent (99-80%) HP:0002676
9 aplasia/hypoplasia of the abdominal wall musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0010318
10 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
11 abnormal thumb morphology 33 hallmark (90%) HP:0001172
12 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
13 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
14 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
15 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
16 generalized myoclonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002123
17 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
18 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
19 seizures 60 33 Frequent (79-30%) HP:0001250
20 hearing impairment 60 33 Very frequent (99-80%) HP:0000365
21 hydrocephalus 33 HP:0000238
22 nystagmus 33 HP:0000639
23 muscular hypotonia 33 HP:0001252
24 failure to thrive 33 HP:0001508
25 eeg abnormality 33 HP:0002353
26 developmental regression 33 HP:0002376
27 behavioral abnormality 60 Very frequent (99-80%)
28 optic atrophy 33 HP:0000648
29 blindness 33 HP:0000618
30 hypertonia 33 HP:0001276
31 vomiting 33 HP:0002013
32 abnormality of metabolism/homeostasis 60 Very frequent (99-80%)
33 abnormality of the thumb 60 Very frequent (99-80%)
34 peripheral neuropathy 60 Very frequent (99-80%)
35 decreased nerve conduction velocity 33 HP:0000762
36 motor deterioration 33 HP:0002333
37 neurodegeneration 33 HP:0002180
38 progressive spasticity 33 HP:0002191
39 sensorimotor neuropathy 33 HP:0007141
40 peripheral demyelination 33 HP:0011096
41 increased csf protein 33 HP:0002922
42 autoimmune thrombocytopenia 33 HP:0001973
43 episodic fever 33 HP:0001954
44 hyperactive deep tendon reflexes 33 HP:0006801
45 diffuse cerebral atrophy 33 HP:0002506
46 cns demyelination 33 HP:0007305
47 decerebrate rigidity 33 HP:0025013
48 abnormal flash visual evoked potentials 33 HP:0007928

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
seizures
developmental regression
motor deterioration
neurodegeneration
more
Growth Other:
failure to thrive

Head And Neck Ears:
deafness
abnormal brainstem auditory evoked potentials (baep)

Laboratory Abnormalities:
elevated cerebrospinal fluid (csf) protein
galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

Head And Neck Eyes:
nystagmus
optic atrophy
blindness
abnormal flash visual evoked potentials (vep)

Abdomen Gastrointestinal:
vomiting

Neurologic Peripheral Nervous System:
sensorimotor peripheral neuropathy
diffuse demyelinating neuropathy
decreased nerve conduction velocities

Clinical features from OMIM:

245200

UMLS symptoms related to Krabbe Disease:


seizures, vomiting, hyperirritability

MGI Mouse Phenotypes related to Krabbe Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ARSA CASP3 GAA GALC MBP PSAP
2 homeostasis/metabolism MP:0005376 9.5 ARSA CASP3 GAA GALC MBP PSAP
3 hearing/vestibular/ear MP:0005377 9.46 ARSA CASP3 MBP PSAP
4 immune system MP:0005387 9.17 ARSA CASP3 CHIT1 GALC MBP PSAP

Drugs & Therapeutics for Krabbe Disease

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

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
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
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
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 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Not Applicable
10 Immunosuppressive Agents Phase 2, Phase 3,Not Applicable
11 Immunologic Factors Phase 2, Phase 3,Not Applicable
12 Alkylating Agents Phase 2, Phase 3,Not Applicable
13 Methylprednisolone Acetate Phase 2, Phase 3
14 Antilymphocyte Serum Phase 2, Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
16
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
17
tannic acid Approved Phase 2,Not Applicable 1401-55-4
18
Hydroxyurea Approved Phase 2 127-07-1 3657
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
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
22
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
23
Mesna Approved, Investigational Phase 2 3375-50-6 598
24
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
25
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
26
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
27
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
28
rituximab Approved Phase 2 174722-31-7 10201696
29
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
30
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32 Tocotrienol Investigational Phase 2 6829-55-6
33 Calcineurin Inhibitors Phase 2,Not Applicable
34 Cyclosporins Phase 2,Not Applicable
35 Antifungal Agents Phase 2,Not Applicable
36 Dermatologic Agents Phase 2,Not Applicable
37 Antimetabolites, Antineoplastic Phase 2,Not Applicable
38 Nucleic Acid Synthesis Inhibitors Phase 2
39 Anti-Infective Agents Phase 2,Not Applicable
40 Antimetabolites Phase 2,Not Applicable
41 Antineoplastic Agents, Immunological Phase 2,Not Applicable
42 Anti-Bacterial Agents Phase 2,Not Applicable
43 Antibiotics, Antitubercular Phase 2,Not Applicable
44 Antitubercular Agents Phase 2,Not Applicable
45 Thioctic Acid Phase 2
46 Tocotrienols Phase 2
47 Vitamins Phase 2
48 Alpha-lipoic Acid Phase 2
49 N-monoacetylcystine Phase 2
50 Tocopherols Phase 2

Interventional clinical trials:

(show all 22)
# 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 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
4 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
5 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)
6 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
7 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
9 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
10 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
11 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
12 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
13 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
14 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
15 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
16 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
17 Krabbe Disease Global Patient Registry Recruiting NCT02993796
18 Biomarker for Krabbe Disease: BioKrabbe Recruiting NCT01425489
19 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
20 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
21 Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease Active, not recruiting NCT00787865
22 An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) Withdrawn NCT01093105

Search NIH Clinical Center for Krabbe Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Krabbe Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: leukodystrophy, globoid cell

Genetic Tests for Krabbe Disease

Genetic tests related to Krabbe Disease:

# Genetic test Affiliating Genes
1 Galactosylceramide Beta-Galactosidase Deficiency 30 GALC

Anatomical Context for Krabbe Disease

MalaCards organs/tissues related to Krabbe Disease:

42
Brain, Bone, Kidney, Eye, Bone Marrow, Skin, Lymph Node

Publications for Krabbe Disease

Articles related to Krabbe Disease:

(show top 50) (show all 341)
# Title Authors Year
1
An unusual case of late-infantile onset Krabbe disease with selective bilateral corticospinal tract involvement, peripheral demyelinating neuropathy, and mild phenotype. ( 30729410 )
2019
2
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months. ( 30777126 )
2019
3
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases. ( 30899093 )
2019
4
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. ( 29391017 )
2018
5
Adult-onset Krabbe disease in two generations of a Chinese family. ( 29951496 )
2018
6
Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft. ( 29479774 )
2018
7
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). ( 29316812 )
2018
8
Heterozygous carriers of galactocerebrosidase mutations that cause Krabbe disease have impaired microglial function and defective repair of myelin damage. ( 29623914 )
2018
9
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type. ( 29615819 )
2018
10
Quantitative DTI metrics in a canine model of Krabbe disease: comparisons versus age-matched controls across multiple ages. ( 29350082 )
2018
11
Long-Term Functional Outcomes following Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease. ( 29933067 )
2018
12
Diffuse Cranial Nerve Involvement in a Patient With Early Infantile Krabbe Disease. ( 30190178 )
2018
13
Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease. ( 30023296 )
2018
14
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. ( 30089515 )
2018
15
Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease. ( 30176352 )
2018
16
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family. ( 30209698 )
2018
17
Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep. ( 30328384 )
2018
18
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease. ( 30546085 )
2018
19
Lipid-Conjugated Rigidochromic Probe Discloses Membrane Alteration in Model Cells of Krabbe Disease. ( 30709620 )
2018
20
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients. ( 30323943 )
2018
21
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. ( 28168127 )
2017
22
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease. ( 28170189 )
2017
23
Stem cell transplantation in Krabbe disease: New truths discovered and opinions change. ( 28855407 )
2017
24
Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study. ( 28855403 )
2017
25
WITHDRAWN: Clinical and molecular analysis of six novel GALC mutations identified in 7 Chinese children with Krabbe disease. ( 28552323 )
2017
26
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity inA vitro. ( 28109651 )
2017
27
Large-scale Study of Clinical and Biochemical Characteristics of Chinese Patients Diagnosed with Krabbe Disease. ( 28598007 )
2017
28
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. ( 28592445 )
2017
29
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. ( 27126738 )
2016
30
Insights into the Pathogenesis and Treatment of Krabbe Disease. ( 27491217 )
2016
31
Thickening of the cauda equina roots: a common finding in Krabbe disease. ( 27137647 )
2016
32
Adult-onset Krabbe disease presenting as acute hemiparesis and progressive demyelination detected by diffusion-weighted imaging. ( 27423612 )
2016
33
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 27920424 )
2016
34
A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves. ( 27040675 )
2016
35
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 28442746 )
2016
36
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. ( 26915362 )
2016
37
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. ( 26990139 )
2016
38
Clinical management of Krabbe disease. ( 27638597 )
2016
39
Challenge of phenotype estimation for optimal treatment of Krabbe disease. ( 27638587 )
2016
40
Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy. ( 26840509 )
2016
41
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease. ( 27559102 )
2016
42
New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones. ( 27638604 )
2016
43
Krabbe disease: One Hundred years from the bedside to the bench to the bedside. ( 27638583 )
2016
44
A specific activity-based probe to monitor family GH59 galactosylceramidase - the enzyme deficient in Krabbe disease. ( 28000364 )
2016
45
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. ( 27679535 )
2016
46
Synthesis and evaluation of N-alkylated analogues of aza-galacto-fagomine - potential pharmacological chaperones for Krabbe disease. ( 27545315 )
2016
47
Chaperones as potential therapeutics for Krabbe disease. ( 27638605 )
2016
48
Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease. ( 27638595 )
2016
49
Newborn screening for Krabbe disease in New York State: the first eight years' experience. ( 26795590 )
2016
50
My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues. ( 27638581 )
2016

Variations for Krabbe Disease

UniProtKB/Swiss-Prot genetic disease variations for Krabbe Disease:

76 (show all 44)
# Symbol AA change Variation ID SNP ID
1 GALC p.Gly111Asp VAR_003380 rs746487628
2 GALC p.Gly111Ser VAR_003381 rs756690487
3 GALC p.Thr112Ala VAR_003382 rs147313927
4 GALC p.Met117Leu VAR_003383 rs145580093
5 GALC p.Asp187Val VAR_003384 rs997021099
6 GALC p.Gly194Ala VAR_003385 rs963756824
7 GALC p.Ile250Thr VAR_003387 rs886039569
8 GALC p.Ala263Thr VAR_003388 rs130881672
9 GALC p.Gly284Ser VAR_003389 rs377274761
10 GALC p.Gly286Asp VAR_003390 rs199847983
11 GALC p.Asn295Thr VAR_003391 rs746922378
12 GALC p.Ser303Phe VAR_003392 rs756352952
13 GALC p.Pro318Ala VAR_003393 rs105751664
14 GALC p.Arg396Trp VAR_003394 rs770485731
15 GALC p.Pro400Leu VAR_003395 rs771232832
16 GALC p.Phe514Ser VAR_003397 rs375867319
17 GALC p.Thr529Met VAR_003398 rs200960659
18 GALC p.Arg531Cys VAR_003399 rs749893889
19 GALC p.Asp544Asn VAR_003400 rs387906952
20 GALC p.Val566Gly VAR_003402
21 GALC p.Tyr567Ser VAR_003403 rs752537626
22 GALC p.Ala592Ser VAR_003404
23 GALC p.Ile599Ser VAR_003405 rs387906953
24 GALC p.Leu645Arg VAR_003407 rs780593419
25 GALC p.Gly59Arg VAR_013956
26 GALC p.Ser68Phe VAR_013957
27 GALC p.Arg79His VAR_013958 rs370117160
28 GALC p.Ile82Met VAR_013959
29 GALC p.Thr278Ile VAR_013961
30 GALC p.Tyr314Cys VAR_013963
31 GALC p.Tyr335Cys VAR_013964 rs757407613
32 GALC p.Trp426Gly VAR_013965
33 GALC p.Arg531His VAR_013966 rs200378205
34 GALC p.Gly553Arg VAR_013967 rs748573754
35 GALC p.Leu634Ser VAR_013968 rs138577661
36 GALC p.Thr668Arg VAR_013969
37 GALC p.Gly41Ser VAR_064431 rs387906955
38 GALC p.Glu130Lys VAR_064432 rs374635469
39 GALC p.Pro318Arg VAR_064433 rs387906954
40 GALC p.Gly323Arg VAR_064434 rs147220776
41 GALC p.Ile384Thr VAR_064435 rs137649665
42 GALC p.Arg396Leu VAR_064436
43 GALC p.Tyr490Asn VAR_064437 rs202135871
44 GALC p.Val681Met VAR_069512 rs200607029

ClinVar genetic disease variations for Krabbe Disease:

6 (show top 50) (show all 606)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh38 Chromosome 10, 71812622: 71812622
2 CDH23; PSAP NM_022124.5(CDH23): c.9510+13C> T single nucleotide variant Benign/Likely benign rs183692794 GRCh37 Chromosome 10, 73572379: 73572379
3 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh38 Chromosome 10, 71812886: 71812886
4 CDH23; PSAP NM_022124.5(CDH23): c.9629T> C (p.Ile3210Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144688588 GRCh37 Chromosome 10, 73572643: 73572643
5 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh38 Chromosome 10, 71815239: 71815239
6 CDH23; PSAP NM_022124.5(CDH23): c.10026C> T (p.Asp3342=) single nucleotide variant Conflicting interpretations of pathogenicity rs377118941 GRCh37 Chromosome 10, 73574996: 73574996
7 GALC NM_000153.3(GALC): c.1592G> A (p.Arg531His) single nucleotide variant Pathogenic/Likely pathogenic rs200378205 GRCh37 Chromosome 14, 88411975: 88411975
8 GALC NM_000153.3(GALC): c.1592G> A (p.Arg531His) single nucleotide variant Pathogenic/Likely pathogenic rs200378205 GRCh38 Chromosome 14, 87945631: 87945631
9 GALC NM_000153.3(GALC): c.1700A> C (p.Tyr567Ser) single nucleotide variant Pathogenic/Likely pathogenic rs752537626 GRCh37 Chromosome 14, 88407873: 88407873
10 GALC NM_000153.3(GALC): c.1700A> C (p.Tyr567Ser) single nucleotide variant Pathogenic/Likely pathogenic rs752537626 GRCh38 Chromosome 14, 87941529: 87941529
11 GALC NM_000153.3(GALC): c.1657G> A (p.Gly553Arg) single nucleotide variant Likely pathogenic rs748573754 GRCh37 Chromosome 14, 88411910: 88411910
12 GALC NM_000153.3(GALC): c.1657G> A (p.Gly553Arg) single nucleotide variant Likely pathogenic rs748573754 GRCh38 Chromosome 14, 87945566: 87945566
13 GALC NM_000153.3(GALC): c.1591C> T (p.Arg531Cys) single nucleotide variant Likely pathogenic rs749893889 GRCh37 Chromosome 14, 88411976: 88411976
14 GALC NM_000153.3(GALC): c.1591C> T (p.Arg531Cys) single nucleotide variant Likely pathogenic rs749893889 GRCh38 Chromosome 14, 87945632: 87945632
15 GALC NM_000153.3(GALC): c.1472delA (p.Lys491Argfs) deletion Pathogenic rs771489305 GRCh37 Chromosome 14, 88414089: 88414089
16 GALC NM_000153.3(GALC): c.1472delA (p.Lys491Argfs) deletion Pathogenic rs771489305 GRCh38 Chromosome 14, 87947745: 87947745
17 GALC NM_000153.3(GALC): c.955delT (p.Tyr319Metfs) deletion Pathogenic/Likely pathogenic rs786204454 GRCh37 Chromosome 14, 88431927: 88431927
18 GALC NM_000153.3(GALC): c.955delT (p.Tyr319Metfs) deletion Pathogenic/Likely pathogenic rs786204454 GRCh38 Chromosome 14, 87965583: 87965583
19 GALC NM_000153.3(GALC): c.908+1G> A single nucleotide variant Likely pathogenic rs750524447 GRCh37 Chromosome 14, 88434678: 88434678
20 GALC NM_000153.3(GALC): c.908+1G> A single nucleotide variant Likely pathogenic rs750524447 GRCh38 Chromosome 14, 87968334: 87968334
21 GALC NM_000153.3(GALC): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766310671 GRCh37 Chromosome 14, 88442796: 88442796
22 GALC NM_000153.3(GALC): c.658C> T (p.Arg220Ter) single nucleotide variant Pathogenic/Likely pathogenic rs766310671 GRCh38 Chromosome 14, 87976452: 87976452
23 GALC NM_000153.3(GALC): c.599C> A (p.Ser200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204618 GRCh37 Chromosome 14, 88448571: 88448571
24 GALC NM_000153.3(GALC): c.599C> A (p.Ser200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204618 GRCh38 Chromosome 14, 87982227: 87982227
25 GALC NM_000153.3(GALC): c.489G> A (p.Trp163Ter) single nucleotide variant Likely pathogenic rs761550284 GRCh38 Chromosome 14, 87984487: 87984487
26 GALC NM_000153.3(GALC): c.489G> A (p.Trp163Ter) single nucleotide variant Likely pathogenic rs761550284 GRCh37 Chromosome 14, 88450831: 88450831
27 GALC NM_000153.3(GALC): c.388G> A (p.Glu130Lys) single nucleotide variant Likely pathogenic rs374635469 GRCh37 Chromosome 14, 88452887: 88452887
28 GALC NM_000153.3(GALC): c.388G> A (p.Glu130Lys) single nucleotide variant Likely pathogenic rs374635469 GRCh38 Chromosome 14, 87986543: 87986543
29 GALC NM_000153.3(GALC): c.169G> A (p.Gly57Ser) single nucleotide variant Pathogenic rs11623 GRCh37 Chromosome 14, 88459340: 88459340
30 GALC NM_000153.3(GALC): c.169G> A (p.Gly57Ser) single nucleotide variant Pathogenic rs11623 GRCh38 Chromosome 14, 87992996: 87992996
31 GALC NM_000153.3(GALC): c.1543G> A (p.Glu515Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs794727116 GRCh37 Chromosome 14, 88412024: 88412024
32 GALC NM_000153.3(GALC): c.1543G> A (p.Glu515Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs794727116 GRCh38 Chromosome 14, 87945680: 87945680
33 GALC NM_000153.3(GALC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs771111145 GRCh37 Chromosome 14, 88454858: 88454858
34 GALC NM_000153.3(GALC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs771111145 GRCh38 Chromosome 14, 87988514: 87988514
35 GALC NM_000153.3(GALC): c.913A> G (p.Ile305Val) single nucleotide variant Benign/Likely benign rs74887188 GRCh37 Chromosome 14, 88431969: 88431969
36 GALC NM_000153.3(GALC): c.913A> G (p.Ile305Val) single nucleotide variant Benign/Likely benign rs74887188 GRCh38 Chromosome 14, 87965625: 87965625
37 GALC NM_000153.3(GALC): c.2041G> A (p.Val681Met) single nucleotide variant Likely pathogenic rs200607029 GRCh38 Chromosome 14, 87934749: 87934749
38 GALC NM_000153.3(GALC): c.2041G> A (p.Val681Met) single nucleotide variant Likely pathogenic rs200607029 GRCh37 Chromosome 14, 88401093: 88401093
39 GALC NM_000153.3(GALC): c.659G> A (p.Arg220Gln) single nucleotide variant Uncertain significance rs199967869 GRCh38 Chromosome 14, 87976451: 87976451
40 GALC NM_000153.3(GALC): c.659G> A (p.Arg220Gln) single nucleotide variant Uncertain significance rs199967869 GRCh37 Chromosome 14, 88442795: 88442795
41 GALC NM_000153.3(GALC): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs756690487 GRCh38 Chromosome 14, 87986600: 87986600
42 GALC NM_000153.3(GALC): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs756690487 GRCh37 Chromosome 14, 88452944: 88452944
43 GALC NM_000153.3(GALC): c.1153G> T (p.Glu385Ter) single nucleotide variant Pathogenic rs121908010 GRCh37 Chromosome 14, 88429736: 88429736
44 GALC NM_000153.3(GALC): c.1153G> T (p.Glu385Ter) single nucleotide variant Pathogenic rs121908010 GRCh38 Chromosome 14, 87963392: 87963392
45 GALC GALC, 30-KB DEL, IVS10 deletion Pathogenic
46 GALC NM_000153.3(GALC): c.1630G> A (p.Asp544Asn) single nucleotide variant Pathogenic rs387906952 GRCh37 Chromosome 14, 88411937: 88411937
47 GALC NM_000153.3(GALC): c.1630G> A (p.Asp544Asn) single nucleotide variant Pathogenic rs387906952 GRCh38 Chromosome 14, 87945593: 87945593
48 GALC NM_000153.3(GALC): c.1796T> G (p.Ile599Ser) single nucleotide variant Pathogenic rs387906953 GRCh37 Chromosome 14, 88407777: 88407777
49 GALC NM_000153.3(GALC): c.1796T> G (p.Ile599Ser) single nucleotide variant Pathogenic rs387906953 GRCh38 Chromosome 14, 87941433: 87941433
50 GALC GALC, GLY553ARG single nucleotide variant Pathogenic

Expression for Krabbe Disease

Search GEO for disease gene expression data for Krabbe Disease.

Pathways for Krabbe Disease

Pathways related to Krabbe Disease according to KEGG:

38
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

Pathways related to Krabbe Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.73 ARSA GALC PSAP
2 11.21 CASP3 MBP PLA2G2A
3 11.02 CASP3 PLA2G2A
4 11.01 ARSA GAA GALC PSAP

GO Terms for Krabbe Disease

Cellular components related to Krabbe Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.55 ARSA CHIT1 PLA2G2A PSAP SNCA
2 neuronal cell body GO:0043025 9.5 CASP3 MBP SNCA
3 azurophil granule membrane GO:0035577 9.26 GAA PSAP
4 lysosomal lumen GO:0043202 9.26 ARSA GAA GALC PSAP
5 lysosome GO:0005764 9.1 ARSA CHIT1 GAA GALC PSAP SNCA

Biological processes related to Krabbe Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid metabolic process GO:0006644 9.37 PLA2G2A SNCA
2 metabolic process GO:0008152 9.33 CHIT1 GAA GALC
3 cellular response to organic substance GO:0071310 9.32 CASP3 PSAP
4 sphingolipid metabolic process GO:0006665 9.26 GALC PSAP
5 neutrophil degranulation GO:0043312 9.26 ARSA CHIT1 GAA PSAP
6 glycosphingolipid metabolic process GO:0006687 8.8 ARSA GALC PSAP

Molecular functions related to Krabbe Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.43 ARSA CASP3 CHIT1 GAA GALC PLA2G2A
2 phospholipid binding GO:0005543 9.33 PLA2G2A PSAP SNCA
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 CHIT1 GAA
4 hydrolase activity, acting on glycosyl bonds GO:0016798 8.8 CHIT1 GAA GALC

Sources for Krabbe Disease

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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