GLD
MCID: KRB001
MIFTS: 69

Krabbe Disease (GLD) malady

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

Aliases & Classifications for Krabbe Disease

Aliases & Descriptions for Krabbe Disease:

Name: Krabbe Disease 54 38 12 71 23 50 24 25 51 56 66 13 52 14
Globoid Cell Leukodystrophy 12 23 50 24 51 56 69
Galc Deficiency 23 50 24 25 56 66
Galactosylceramide Beta-Galactosidase Deficiency 12 50 24 66 29
Galactocerebrosidase Deficiency 23 50 24 56
Globoid Cell Leukoencephalopathy 12 50 66
Galactosylceramidase Deficiency 23 24 56
Gcl 50 25 66
Gld 50 25 66
Diffuse Globoid Body Sclerosis 12 25
Leukodystrophy, Globoid Cell 66 42
Galactosylceramidase Deficiency Disease 25
Infantile Globoid Cell Leukodystrophy 69
Beta Galactocerebrosidase Deficiency 12
Galactosylcerebrosidase Deficiency 25
Galactosylsphingosine Lipidosis 25
Galactosylceramide Lipidosis 25
Krabbe's Leukodystrophy 12
Krabbe Leukodystrophy 50
Psychosine Lipidosis 25
Krabbe's Disease 12

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
krabbe disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 245200
Disease Ontology 12 DOID:10587
ICD10 33 E75.23
MeSH 42 D007965
NCIt 47 C61254
Orphanet 56 ORPHA487
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 70 C0023521
MedGen 40 C0023521
UMLS 69 C0023521

Summaries for Krabbe Disease

NIH Rare Diseases : 50 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. last updated: 10/9/2015

MalaCards based summary : Krabbe Disease, also known as globoid cell leukodystrophy, is related to krabbe disease, atypical and infantile krabbe disease, and has symptoms including ataxia, fever and seizures. An important gene associated with Krabbe Disease is GALC (Galactosylceramidase), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related phenotypes are behavior/neurological and hematopoietic system

Genetics Home Reference : 25 Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.

OMIM : 54 Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral... (245200) more...

NINDS : 51 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 destroys brain cells.  Krabbe disease, also known as globoid cell leukodystrophy, is characterized by the presence of 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), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness. 

UniProtKB/Swiss-Prot : 66 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 : 71 Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare,... 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 all 50)
id Related Disease Score Top Affiliating Genes
1 krabbe disease, atypical 12.2
2 infantile krabbe disease 12.1
3 adult krabbe disease 12.0
4 late-infantile/juvenile krabbe disease 11.9
5 sphingolipidosis 10.8
6 spasticity 10.8
7 leukodystrophy 10.4
8 serous or mucinous cystadenoma of childhood 10.2 GALC PSAP
9 47,xyy syndrome 10.2 CHIT1 PSAP
10 mycobacterium xenopi 10.1 CHIT1 NOS2
11 senile atrophy of choroid 10.1 CASP3 NOS2
12 rickets due to defect in vitamin d 25-hydroxylation 10.1 CHIT1 MBP
13 diffuse large b-cell lymphoma of the central nervous system 10.0 ARSA PSAP
14 follicular cholangitis and pancreatitis 10.0 ARSA PSAP
15 osteochondrosis 10.0 CHIT1 MBP PSAP
16 primary cutaneous anaplastic large cell lymphoma 10.0 ARSA PSAP
17 apocrine adenosis of breast 10.0 CASP3 MBP
18 spina bifida occulta 10.0 ARSA PSAP
19 splenic marginal zone lymphoma 10.0 CASP3 NOS2 PLA2G2A
20 endotheliitis 10.0
21 bladder hepatoid adenocarcinoma 10.0 CASP3 MBP
22 neuronitis 10.0
23 neuropathy 10.0
24 metachromatic leukodystrophy 10.0
25 urea cycle disorder 10.0 CASP3 MBP
26 mitochondrial dna depletion syndrome 1 9.9 ARSA GALC PSAP
27 dysostosis 9.9 ARSA GALC PSAP
28 spinocerebellar degeneration 9.9
29 glioma susceptibility 4 9.9 ARSA PSAP
30 mononeuritis of lower limb 9.9 ARSA GALC PSAP
31 idiopathic progressive polyneuropathy 9.9 ARSA GALC PSAP
32 hypothalamic disease 9.9 ARSA CHIT1 PSAP
33 substance-induced psychosis 9.9 CASP3 MBP NOS2
34 advanced sleep phase syndrome, familial, 1 9.9 CHIT1 MBP NOS2
35 leydig cell hypoplasia 9.9 MBP NOS2
36 cerebritis 9.8
37 hematopoietic stem cell transplantation 9.8
38 gaucher disease, type ii 9.8 ARSA CHIT1 GALC PSAP
39 lysosomal storage disease 9.7
40 motor neuron disease 9.7
41 neuronal ceroid lipofuscinosis 9.7
42 conjunctivitis 9.7
43 intussusception 9.7
44 cerebellar ataxia 9.7
45 glioma 9.7
46 ataxia 9.7
47 myoclonus 9.7
48 adrenoleukodystrophy 9.7
49 rett syndrome 9.7
50 hypertelorism, preauricular sinus, punctal pits, and deafness 8.7 ARSA CASP3 CHIT1 GALC MBP NOS2

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



Diseases related to Krabbe Disease

Symptoms & Phenotypes for Krabbe Disease

Symptoms by clinical synopsis from OMIM:

245200

Clinical features from OMIM:

245200

Human phenotypes related to Krabbe Disease:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 fever 56 32 Frequent (79-30%) HP:0001945
3 seizures 56 32 Frequent (79-30%) HP:0001250
4 spasticity 56 32 Very frequent (99-80%) HP:0001257
5 gait disturbance 56 32 Frequent (79-30%) HP:0001288
6 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
7 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
8 recurrent respiratory infections 56 32 Frequent (79-30%) HP:0002205
9 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
10 visual impairment 56 32 Very frequent (99-80%) HP:0000505
11 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
12 irritability 56 32 Frequent (79-30%) HP:0000737
13 sensory neuropathy 56 32 Very frequent (99-80%) HP:0000763
14 abnormality of the thumb 56 32 Very frequent (99-80%) HP:0001172
15 weight loss 56 32 Occasional (29-5%) HP:0001824
16 generalized myoclonic seizures 56 32 Frequent (79-30%) HP:0002123
17 cloverleaf skull 56 32 Very frequent (99-80%) HP:0002676
18 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
19 aplasia/hypoplasia of the abdominal wall musculature 56 32 Very frequent (99-80%) HP:0010318
20 feeding difficulties 56 32 Very frequent (99-80%) HP:0011968
21 vomiting 32 HP:0002013
22 hydrocephalus 32 HP:0000238
23 nystagmus 32 HP:0000639
24 muscular hypotonia 32 HP:0001252
25 failure to thrive 32 HP:0001508
26 eeg abnormality 32 HP:0002353
27 developmental regression 32 HP:0002376
28 behavioral abnormality 56 Very frequent (99-80%)
29 optic atrophy 32 HP:0000648
30 blindness 32 HP:0000618
31 hypertonia 32 HP:0001276
32 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
33 peripheral neuropathy 56 Very frequent (99-80%)
34 decreased nerve conduction velocity 32 HP:0000762
35 motor deterioration 32 HP:0002333
36 neurodegeneration 32 HP:0002180
37 progressive spasticity 32 HP:0002191
38 sensorimotor neuropathy 32 HP:0007141
39 increased csf protein 32 HP:0002922
40 autoimmune thrombocytopenia 32 HP:0001973
41 episodic fever 32 HP:0001954
42 hyperactive deep tendon reflexes 32 HP:0006801
43 diffuse cerebral atrophy 32 HP:0002506
44 peripheral demyelination 32 HP:0011096
45 cns demyelination 32 HP:0007305
46 abnormal flash visual evoked potentials 32 HP:0007928

UMLS symptoms related to Krabbe Disease:


seizures, vomiting, hyperirritability

MGI Mouse Phenotypes related to Krabbe Disease:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ARSA CASP3 GALC MBP NOS2 PLA2G4A
2 hematopoietic system MP:0005397 10.03 PLA2G4A PLA2G6 PSAP ARSA CASP3 GALC
3 cellular MP:0005384 10.02 CASP3 GALC MBP NOS2 PLA2G4A PLA2G6
4 immune system MP:0005387 10.02 ARSA CASP3 CHIT1 GALC MBP NOS2
5 homeostasis/metabolism MP:0005376 10.01 ARSA CASP3 GALC MBP NOS2 PLA2G4A
6 nervous system MP:0003631 9.86 ARSA CASP3 GALC MBP NOS2 PLA2G4A
7 muscle MP:0005369 9.8 CASP3 GALC NOS2 PLA2G4A PLA2G6 PSAP
8 hearing/vestibular/ear MP:0005377 9.76 ARSA CASP3 MBP PSAP
9 renal/urinary system MP:0005367 9.55 CASP3 GALC NOS2 PLA2G4A PSAP
10 reproductive system MP:0005389 9.43 PLA2G4A PLA2G6 PSAP CASP3 MBP NOS2
11 vision/eye MP:0005391 9.1 PLA2G6 PSAP CASP3 GALC MBP NOS2

Drugs & Therapeutics for Krabbe Disease

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

(show top 50) (show all 56)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Alkylating Agents Phase 2, Phase 3
6 Antilymphocyte Serum Phase 2, Phase 3
7 Antineoplastic Agents, Alkylating Phase 2, Phase 3
8 Antirheumatic Agents Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Methylprednisolone acetate Phase 2, Phase 3
11 Methylprednisolone Hemisuccinate Phase 2, Phase 3
12 Prednisolone acetate Phase 2, Phase 3
13 Prednisolone hemisuccinate Phase 2, Phase 3
14 Prednisolone phosphate Phase 2, Phase 3
15
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
16
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
17
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
18
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
19
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
20
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
21
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
22
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
23
Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
24
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 2 24280-93-1 446541
26
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
27
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
28
rituximab Approved Phase 2 174722-31-7 10201696
29
Acetaminophen Approved Phase 2 103-90-2 1983
30
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
31
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
32
Promethazine Approved Phase 2 60-87-7 4927
33
Vidarabine Approved Phase 2 24356-66-9 32326 21704
34
Mesna Approved Phase 2 3375-50-6 598
35 tannic acid Approved, Nutraceutical Phase 2
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
37 Antifungal Agents Phase 2
38 Anti-Infective Agents Phase 2
39 Antimetabolites Phase 2
40 Antimetabolites, Antineoplastic Phase 2
41 Calcineurin Inhibitors Phase 2
42 Dermatologic Agents Phase 2
43 Nucleic Acid Synthesis Inhibitors Phase 2
44 Anti-Bacterial Agents Phase 2
45 Antibiotics, Antitubercular Phase 2
46 N-monoacetylcystine Phase 2
47 Thioctic Acid Phase 2
48 Tocopherols Phase 2
49 Tocotrienols Phase 2
50 Vitamins Phase 2

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 AtriClip® Left Atrial Appendage Exclusion Concomitant to Structural Heart Procedures (ATLAS) Recruiting NCT02701062 Phase 4
2 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
3 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
4 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
5 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
6 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
7 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
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
10 Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Withdrawn NCT02715505 Phase 1, Phase 2
11 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1
12 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
13 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
14 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
15 Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases Withdrawn NCT01003912 Phase 1
16 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
17 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
18 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
19 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
20 Quality Assessment Creatinines in Plasma and Urine Completed NCT01575392
21 Biomarker for Krabbe Disease Recruiting NCT01425489
22 Krabbe Disease Global Patient Registry Recruiting NCT02993796
23 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Recruiting NCT01938014
24 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
25 Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease Active, not recruiting NCT00787865
26 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
27 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:

id Genetic test Affiliating Genes
1 Galactosylceramide Beta-Galactosidase Deficiency 29
2 Krabbe Disease 24 GALC

Anatomical Context for Krabbe Disease

MalaCards organs/tissues related to Krabbe Disease:

39
Brain, Bone, Eye, Testes, Skin, Kidney, Spinal Cord

Publications for Krabbe Disease

Articles related to Krabbe Disease:

(show top 50) (show all 237)
id Title Authors Year
1
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease. ( 28170189 )
2017
2
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity inA vitro. ( 28109651 )
2017
3
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. ( 28168127 )
2017
4
Should states adopt newborn screening for early infantile Krabbe disease? ( 26845105 )
2016
5
Krabbe disease: One Hundred years from the bedside to the bench to the bedside. ( 27638583 )
2016
6
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 28442746 )
2016
7
My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues. ( 27638581 )
2016
8
Challenge of phenotype estimation for optimal treatment of Krabbe disease. ( 27638587 )
2016
9
Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy. ( 26840509 )
2016
10
Newborn screening for Krabbe disease in New York State: the first eight years' experience. ( 26795590 )
2016
11
Gene therapy for CNS diseases - Krabbe disease. ( 27525222 )
2016
12
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. ( 27171547 )
2016
13
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease. ( 27559102 )
2016
14
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. ( 26990139 )
2016
15
Insights into the Pathogenesis and Treatment of Krabbe Disease. ( 27491217 )
2016
16
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. ( 26915362 )
2016
17
Clinical management of Krabbe disease. ( 27638597 )
2016
18
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. ( 27126738 )
2016
19
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. ( 27679535 )
2016
20
New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones. ( 27638604 )
2016
21
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 27920424 )
2016
22
A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves. ( 27040675 )
2016
23
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. ( 27785412 )
2016
24
A specific activity-based probe to monitor family GH59 galactosylceramidase - the enzyme deficient in Krabbe disease. ( 28000364 )
2016
25
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. ( 27780934 )
2016
26
Chaperones as potential therapeutics for Krabbe disease. ( 27638605 )
2016
27
Synthesis and evaluation of N-alkylated analogues of aza-galacto-fagomine - potential pharmacological chaperones for Krabbe disease. ( 27545315 )
2016
28
Thickening of the cauda equina roots: a common finding in Krabbe disease. ( 27137647 )
2016
29
Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease. ( 27638595 )
2016
30
Diffusion tensor imaging analysis of the brain in the canine model of Krabbe disease. ( 27677296 )
2016
31
Adult-onset Krabbe disease presenting as acute hemiparesis and progressive demyelination detected by diffusion-weighted imaging. ( 27423612 )
2016
32
Krabbe disease: involvement of connexin43 in the apoptotic effects of sphingolipid psychosine on mouse oligodendrocyte precursors. ( 26459425 )
2015
33
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). ( 27442402 )
2015
34
Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation. ( 26396125 )
2015
35
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. ( 25844309 )
2015
36
Brain angioarchitecture and intussusceptive microvascular growth in a murine model of Krabbe disease. ( 26310512 )
2015
37
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease. ( 25762404 )
2015
38
Azasugar inhibitors as pharmacological chaperones for Krabbe disease. ( 26029356 )
2015
39
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. ( 26567009 )
2015
40
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations. ( 26108143 )
2015
41
Midbrain morphology reflects extent of brain damage in Krabbe disease. ( 25859833 )
2015
42
Mechanism of neuromuscular dysfunction in Krabbe disease. ( 25632136 )
2015
43
Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease. ( 25236689 )
2015
44
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. ( 26108647 )
2015
45
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease. ( 25193740 )
2014
46
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with krabbe disease correspond to phenotype. ( 24262341 )
2014
47
Phenotypic variability of krabbe disease across the lifespan. ( 24384330 )
2014
48
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. ( 24252386 )
2014
49
Neuronal inclusions of I+-synuclein contribute to the pathogenesis of Krabbe disease. ( 24415155 )
2014
50
History, genetic, and recent advances on Krabbe disease. ( 25260228 )
2014

Variations for Krabbe Disease

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

66 (show all 45)
id 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
5 GALC p.Asp187Val VAR_003384
6 GALC p.Gly194Ala VAR_003385
7 GALC p.Ile250Thr VAR_003387
8 GALC p.Ala263Thr VAR_003388
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
14 GALC p.Arg396Trp VAR_003394 rs770485731
15 GALC p.Pro400Leu VAR_003395
16 GALC p.Thr468Ser VAR_003396 rs34134328
17 GALC p.Phe514Ser VAR_003397 rs375867319
18 GALC p.Thr529Met VAR_003398 rs200960659
19 GALC p.Arg531Cys VAR_003399 rs749893889
20 GALC p.Asp544Asn VAR_003400 rs387906952
21 GALC p.Val566Gly VAR_003402
22 GALC p.Tyr567Ser VAR_003403 rs752537626
23 GALC p.Ala592Ser VAR_003404
24 GALC p.Ile599Ser VAR_003405 rs387906953
25 GALC p.Leu645Arg VAR_003407 rs780593419
26 GALC p.Gly59Arg VAR_013956
27 GALC p.Ser68Phe VAR_013957
28 GALC p.Arg79His VAR_013958 rs370117160
29 GALC p.Ile82Met VAR_013959
30 GALC p.Thr278Ile VAR_013961
31 GALC p.Tyr314Cys VAR_013963
32 GALC p.Tyr335Cys VAR_013964 rs757407613
33 GALC p.Trp426Gly VAR_013965
34 GALC p.Arg531His VAR_013966 rs200378205
35 GALC p.Gly553Arg VAR_013967 rs748573754
36 GALC p.Leu634Ser VAR_013968 rs138577661
37 GALC p.Thr668Arg VAR_013969
38 GALC p.Gly41Ser VAR_064431 rs387906955
39 GALC p.Glu130Lys VAR_064432 rs374635469
40 GALC p.Pro318Arg VAR_064433 rs387906954
41 GALC p.Gly323Arg VAR_064434
42 GALC p.Ile384Thr VAR_064435
43 GALC p.Arg396Leu VAR_064436
44 GALC p.Tyr490Asn VAR_064437 rs202135871
45 GALC p.Val681Met VAR_069512 rs200607029

ClinVar genetic disease variations for Krabbe Disease:

6 (show top 50) (show all 53)
id Gene Variation Type Significance SNP ID Assembly Location
1 GALC NM_000153.3(GALC): c.1153G> T (p.Glu385Ter) single nucleotide variant Pathogenic rs121908010 GRCh37 Chromosome 14, 88429736: 88429736
2 GALC GALC, 30-KB DEL, IVS10 deletion Pathogenic
3 GALC NM_000153.3(GALC): c.1630G> A (p.Asp544Asn) single nucleotide variant Pathogenic rs387906952 GRCh37 Chromosome 14, 88411937: 88411937
4 GALC NM_000153.3(GALC): c.1796T> G (p.Ile599Ser) single nucleotide variant Pathogenic rs387906953 GRCh37 Chromosome 14, 88407777: 88407777
5 GALC GALC, GLY553ARG single nucleotide variant Pathogenic
6 GALC GALC, IVS13DS, G-A, +1 single nucleotide variant Pathogenic
7 GALC GALC, 1-BP DEL, 1901T deletion Pathogenic
8 GALC NM_000153.3(GALC): c.857G> A (p.Gly286Asp) single nucleotide variant Pathogenic/Likely pathogenic rs199847983 GRCh37 Chromosome 14, 88434730: 88434730
9 GALC NM_000153.3(GALC): c.953C> G (p.Pro318Arg) single nucleotide variant Pathogenic rs387906954 GRCh37 Chromosome 14, 88431929: 88431929
10 GALC NM_000153.3(GALC): c.121G> A (p.Gly41Ser) single nucleotide variant Pathogenic rs387906955 GRCh37 Chromosome 14, 88459388: 88459388
11 GALC NM_000153.3(GALC): c.1161+2T> G single nucleotide variant Pathogenic rs398123175 GRCh37 Chromosome 14, 88429726: 88429726
12 GALC NM_000153.3(GALC): c.862T> C (p.Trp288Arg) single nucleotide variant Likely pathogenic rs398123177 GRCh37 Chromosome 14, 88434725: 88434725
13 GALC NM_000153.3(GALC): c.1592G> A (p.Arg531His) single nucleotide variant Pathogenic/Likely pathogenic rs200378205 GRCh37 Chromosome 14, 88411975: 88411975
14 GALC NM_000153.3(GALC): c.1700A> C (p.Tyr567Ser) single nucleotide variant Pathogenic/Likely pathogenic rs752537626 GRCh37 Chromosome 14, 88407873: 88407873
15 GALC NM_000153.3(GALC): c.1657G> A (p.Gly553Arg) single nucleotide variant Likely pathogenic rs748573754 GRCh37 Chromosome 14, 88411910: 88411910
16 GALC NM_000153.3(GALC): c.1591C> T (p.Arg531Cys) single nucleotide variant Likely pathogenic rs749893889 GRCh37 Chromosome 14, 88411976: 88411976
17 GALC NM_000153.3(GALC): c.1472delA (p.Lys491Argfs) deletion Pathogenic rs771489305 GRCh37 Chromosome 14, 88414089: 88414089
18 GALC NM_000153.3(GALC): c.955delT (p.Tyr319Metfs) deletion Pathogenic/Likely pathogenic rs786204454 GRCh37 Chromosome 14, 88431927: 88431927
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.658C> T (p.Arg220Ter) single nucleotide variant Likely pathogenic rs766310671 GRCh37 Chromosome 14, 88442796: 88442796
21 GALC NM_000153.3(GALC): c.599C> A (p.Ser200Ter) single nucleotide variant Likely pathogenic rs786204618 GRCh37 Chromosome 14, 88448571: 88448571
22 GALC NM_000153.3(GALC): c.489G> A (p.Trp163Ter) single nucleotide variant Likely pathogenic rs761550284 GRCh38 Chromosome 14, 87984487: 87984487
23 GALC NM_000153.3(GALC): c.388G> A (p.Glu130Lys) single nucleotide variant Likely pathogenic rs374635469 GRCh37 Chromosome 14, 88452887: 88452887
24 GALC NM_000153.3(GALC): c.169G> A (p.Gly57Ser) single nucleotide variant Pathogenic rs11623 GRCh37 Chromosome 14, 88459340: 88459340
25 GALC NM_000153.3(GALC): c.1543G> A (p.Glu515Lys) single nucleotide variant Likely pathogenic rs794727116 GRCh37 Chromosome 14, 88412024: 88412024
26 GALC NM_000153.3(GALC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs771111145 GRCh37 Chromosome 14, 88454858: 88454858
27 GALC NM_000153.3(GALC): c.430delA (p.Ile144Leufs) deletion Pathogenic rs775277935 GRCh37 Chromosome 14, 88452845: 88452845
28 GALC NM_000153.3(GALC): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs756690487 GRCh37 Chromosome 14, 88452944: 88452944
29 GALC NM_000153.3(GALC): c.195G> C (p.Gly65=) single nucleotide variant Likely pathogenic rs886042057 GRCh38 Chromosome 14, 87992970: 87992970
30 GALC NM_000153.3(GALC): c.243_244insAG (p.Ile82Argfs) insertion Pathogenic rs886043419 GRCh37 Chromosome 14, 88454819: 88454820
31 GALC NM_000153.3(GALC): c.1541T> C (p.Phe514Ser) single nucleotide variant Likely pathogenic rs375867319 GRCh37 Chromosome 14, 88412026: 88412026
32 GALC NM_000153.3(GALC): c.628A> T (p.Arg210Ter) single nucleotide variant Pathogenic rs202131052 GRCh37 Chromosome 14, 88442826: 88442826
33 GALC NM_000153.3(GALC): c.1890T> A (p.Tyr630Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057516453 GRCh38 Chromosome 14, 87939926: 87939926
34 GALC NM_000153.3(GALC): c.1851delT (p.Tyr617Terfs) deletion Likely pathogenic rs1057516433 GRCh37 Chromosome 14, 88406309: 88406309
35 GALC NM_000153.3(GALC): c.1837G> T (p.Gly613Ter) single nucleotide variant Likely pathogenic rs1057517033 GRCh37 Chromosome 14, 88406323: 88406323
36 GALC NM_000153.3(GALC): c.1670+1G> A single nucleotide variant Likely pathogenic rs749597090 GRCh38 Chromosome 14, 87945552: 87945552
37 GALC NM_000153.3(GALC): c.1586C> T (p.Thr529Met) single nucleotide variant Likely pathogenic rs200960659 GRCh38 Chromosome 14, 87945637: 87945637
38 GALC NM_000153.3(GALC): c.1426dupA (p.Ser476Lysfs) duplication Likely pathogenic rs1057517082 GRCh38 Chromosome 14, 87947791: 87947791
39 GALC NM_000153.3(GALC): c.1272_1273insTAG (p.Val425_Arg685del) insertion Likely pathogenic rs1057517372 GRCh37 Chromosome 14, 88416254: 88416255
40 GALC NM_000153.3(GALC): c.1273delG (p.Val425Tyrfs) deletion Likely pathogenic rs1057516394 GRCh38 Chromosome 14, 87949910: 87949910
41 GALC NM_000153.3(GALC): c.1065G> A (p.Trp355Ter) single nucleotide variant Likely pathogenic rs1057516270 GRCh38 Chromosome 14, 87963480: 87963480
42 GALC NM_000153.3(GALC): c.1021delG (p.Val341Serfs) deletion Likely pathogenic rs1057517382 GRCh37 Chromosome 14, 88431861: 88431861
43 GALC NM_000153.3(GALC): c.1012delG (p.Glu338Asnfs) deletion Likely pathogenic rs1057516469 GRCh37 Chromosome 14, 88431870: 88431870
44 GALC NM_000153.3(GALC): c.972delG (p.Met325Terfs) deletion Likely pathogenic rs1057516808 GRCh37 Chromosome 14, 88431910: 88431910
45 GALC NM_000153.3(GALC): c.952C> G (p.Pro318Ala) single nucleotide variant Likely pathogenic rs1057516642 GRCh38 Chromosome 14, 87965586: 87965586
46 GALC NM_000153.3(GALC): c.946C> T (p.Gln316Ter) single nucleotide variant Likely pathogenic rs776368825 GRCh38 Chromosome 14, 87965592: 87965592
47 GALC NM_000153.3(GALC): c.533G> A (p.Trp178Ter) single nucleotide variant Likely pathogenic rs968905231 GRCh37 Chromosome 14, 88450787: 88450787
48 GALC NM_000153.3(GALC): c.467_468dupGG (p.Leu157Glyfs) duplication Likely pathogenic rs1057517185 GRCh37 Chromosome 14, 88450852: 88450853
49 GALC NM_000153.3(GALC): c.442+2T> G single nucleotide variant Likely pathogenic rs1057516632 GRCh38 Chromosome 14, 87986487: 87986487
50 GALC NM_000153.3(GALC): c.415A> T (p.Lys139Ter) single nucleotide variant Likely pathogenic rs1057516673 GRCh38 Chromosome 14, 87986516: 87986516

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 GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ARSA CHIT1 GALC NOS2 PLA2G2A PLA2G4A
2
Show member pathways
12.1 ARSA GALC PSAP
3
Show member pathways
12.1 CASP3 PLA2G2A PLA2G4A PLA2G6
4
Show member pathways
11.8 PLA2G2A PLA2G4A PLA2G6
5 11.67 ARSA GALC PSAP
6
Show member pathways
11.61 PLA2G2A PLA2G4A PLA2G6
7 11.27 CASP3 NOS2
8 11.26 PLA2G2A PLA2G4A
9 11.25 CASP3 NOS2 PLA2G4A
10
Show member pathways
11.24 PLA2G2A PLA2G4A
11 11.1 CASP3 PLA2G2A PLA2G4A
12 11.1 CASP3 MBP NOS2 PLA2G2A PLA2G6
13 11.05 NOS2 PLA2G4A
14 10.94 PLA2G4A PLA2G6
15 10.86 PLA2G2A PLA2G6
16 10.58 NOS2 PLA2G2A PLA2G4A

GO Terms for Krabbe Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.55 ARSA CHIT1 PLA2G2A PLA2G6 PSAP
2 lysosome GO:0005764 9.26 ARSA CHIT1 GALC PSAP
3 lysosomal lumen GO:0043202 8.8 ARSA GALC PSAP

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 GALC PLA2G2A PLA2G4A PLA2G6 PSAP
2 metabolic process GO:0008152 9.65 ARSA CHIT1 GALC PLA2G4A PLA2G6
3 phosphatidic acid biosynthetic process GO:0006654 9.55 PLA2G2A PLA2G4A
4 cellular response to organic substance GO:0071310 9.54 CASP3 PSAP
5 sphingolipid metabolic process GO:0006665 9.52 GALC PSAP
6 response to bacterium GO:0009617 9.51 CHIT1 NOS2
7 glycosphingolipid metabolic process GO:0006687 9.5 ARSA GALC PSAP
8 positive regulation of vasodilation GO:0045909 9.49 NOS2 PLA2G6
9 arachidonic acid secretion GO:0050482 9.48 PLA2G2A PLA2G4A
10 phosphatidylserine acyl-chain remodeling GO:0036150 9.46 PLA2G2A PLA2G4A
11 phosphatidylglycerol acyl-chain remodeling GO:0036148 9.43 PLA2G2A PLA2G4A
12 phosphatidylinositol acyl-chain remodeling GO:0036149 9.4 PLA2G2A PLA2G4A
13 phosphatidylcholine acyl-chain remodeling GO:0036151 9.33 PLA2G2A PLA2G4A PLA2G6
14 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.13 PLA2G2A PLA2G4A PLA2G6
15 lipid catabolic process GO:0016042 8.92 GALC PLA2G2A PLA2G4A PLA2G6

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.5 ARSA CASP3 CHIT1 GALC PLA2G2A PLA2G4A
2 calmodulin binding GO:0005516 9.43 MBP NOS2 PLA2G6
3 calcium-dependent phospholipase A2 activity GO:0047498 9.16 PLA2G2A PLA2G4A
4 phospholipase A2 activity GO:0004623 8.8 PLA2G2A PLA2G4A PLA2G6

Sources for Krabbe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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