GLD
MCID: KRB001
MIFTS: 69

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 57 12 73 25 20 43 53 58 72 36 13 54 15 37 39
Globoid Cell Leukodystrophy 57 12 25 20 53 58 70
Galactosylceramide Beta-Galactosidase Deficiency 57 12 20 72 29 6
Galc Deficiency 57 25 20 43 58 72
Globoid Cell Leukoencephalopathy 57 12 20 72
Galactocerebrosidase Deficiency 57 25 20 58
Gld 57 20 43 72
Leukodystrophy, Globoid Cell 73 72 44
Gcl 20 43 72
Diffuse Globoid Body Sclerosis 12 43
Krabbe Leukodystrophy 73 20
Galactosylceramidase Deficiency Disease 43
Globoid Cell Leukodystrophy; Gld; Gcl 57
Infantile Globoid Cell Leukodystrophy 70
Beta Galactocerebrosidase Deficiency 12
Galactosylcerebrosidase Deficiency 43
Galactosylsphingosine Lipidosis 43
Galactosylceramidase Deficiency 58
Galactosylceramide Lipidosis 43
Krabbe's Leukodystrophy 12
Psychosine Lipidosis 43
Krabbe's Disease 12

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
krabbe disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Krabbe Disease

MedlinePlus Genetics : 43 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.The most common form of Krabbe disease, called the infantile form, usually begins before the age of 1. Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and delayed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures. Because of the severity of the condition, individuals with the infantile form of Krabbe disease rarely survive beyond the age of 2.Less commonly, Krabbe disease begins in childhood, adolescence, or adulthood (late-onset forms). Vision problems and walking difficulties are the most common initial symptoms in these forms of the disorder, however, signs and symptoms vary considerably among affected individuals. Individuals with late-onset Krabbe disease may survive many years after the condition begins.

MalaCards based summary : Krabbe Disease, also known as globoid cell leukodystrophy, is related to krabbe disease, atypical, due to saposin a deficiency and infantile krabbe disease, 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 Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone marrow, and related phenotypes are failure to thrive and eeg abnormality

GARD : 20 Krabbe disease affects the development and function of the nervous system. There are several types of Krabbe disease that differ based on the age that symptoms begin. The early-onset type of Krabbe disease is the most common and the most severe. Babies who have early-onset (infantile) Krabbe disease typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include irritability, failure to thrive, slowed development, and unexplained fevers. These are followed by progressive muscle weakness, hearing and vision loss, and decreased movement. Symptoms of the later-onset types of Krabbe disease start in childhood, early adolescence, or adulthood. These may include muscle weakness and stiffness, loss of milestones, blindness, behavior problems, dementia, and seizures. Krabbe disease is considered a fatal disease, and the average survival in the infantile type is 2 years. Krabbe disease is caused by genetic variants in the GALC gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing. Krabbe disease can also be diagnosed based on the results of newborn screening. Treatment is focused on managing the symptoms. If the diagnosis is made before symptoms begin, hematopoietic stem cell transplant is an option for treatment.

OMIM® : 57 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) (Updated 20-May-2021)

NINDS : 53 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.

KEGG : 36 Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase.

UniProtKB/Swiss-Prot : 72 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 : 73 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 192)
# Related Disease Score Top Affiliating Genes
1 krabbe disease, atypical, due to saposin a deficiency 33.1 PSAP CDH23
2 infantile krabbe disease 32.7 PSAP GALC
3 sphingolipidosis 31.1 SNCA SMPD1 PSAP M6PR IDUA GLA
4 farber lipogranulomatosis 30.5 SMPD1 PSAP GALC
5 lysosomal disease 30.4 GBA GALC
6 leukoencephalopathy, hereditary diffuse, with spheroids 30.3 SNCA MBP GALC
7 lysosomal storage disease 30.3 SMPD1 PSAP M6PR IDUA GLA GBA
8 nervous system disease 30.2 SNCA NOS2 MBP JUN CASP3
9 mucolipidosis ii alpha/beta 30.1 SMPD1 PSAP M6PR IDUA
10 parkinson disease, late-onset 30.1 SNCA PLA2G6 MBP JUN GBA CASP3
11 neuronal ceroid lipofuscinosis 30.0 SNCA SMPD1 PSAP M6PR
12 central nervous system disease 29.9 SNCA NOS2 MBP IDUA
13 metachromatic leukodystrophy 29.9 SMPD1 PSAP MBP M6PR IDUA GLA
14 gm1 gangliosidosis 29.8 SMPD1 PSAP M6PR IDUA GLA GBA
15 gaucher's disease 29.7 SNCA SMPD1 PSAP M6PR IDUA GLA
16 late-infantile/juvenile krabbe disease 11.2
17 adult krabbe disease 11.1
18 spasticity 11.1
19 cerebral atrophy 11.0
20 neuronal ceroid-lipofuscinoses 11.0
21 congenital generalized lipodystrophy 11.0
22 lymphatic malformation 6 11.0
23 glutamate-cysteine ligase deficiency 11.0
24 ephb4-related lymphatic-related hydrops fetalis 11.0
25 piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 11.0
26 leukodystrophy 10.9
27 autoimmune disease 10.5
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.5
29 neuropathy 10.5
30 peripheral nervous system disease 10.5
31 lymphoproliferative syndrome 10.4
32 metachromatic leukodystrophy, late infantile form 10.4 PSAP ARSA
33 metachromatic leukodystrophy, adult form 10.4 PSAP ARSA
34 autosomal recessive disease 10.4
35 gaucher disease, atypical, due to saposin c deficiency 10.4 PSAP CDH23
36 gaucher disease, type ii 10.4 PSAP GBA CHIT1
37 chitotriosidase deficiency 10.4 GBA CHIT1
38 metachromatic leukodystrophy, juvenile form 10.4 PSAP ARSA
39 hereditary late-onset parkinson disease 10.4 SNCA PSAP GBA
40 paraplegia 10.4
41 splenomegaly 10.3
42 kufor-rakeb syndrome 10.3 SNCA PLA2G6 GBA
43 hurler syndrome 10.3
44 encephalomalacia 10.3 MBP GALC CASP3
45 early-onset parkinson's disease 10.3 SNCA PLA2G6 GBA
46 postinfectious encephalitis 10.3 MBP GALC
47 combined saposin deficiency 10.3 PSAP GALC CDH23 ARSA
48 neuroaxonal dystrophy 10.3 SNCA PLA2G6 MBP
49 cerebral lipidosis 10.3 SMPD1 M6PR CHIT1
50 gm1-gangliosidosis, type i 10.3 SMPD1 PSAP GALC CHIT1

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:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 eeg abnormality 31 HP:0002353
3 nystagmus 31 HP:0000639
4 hydrocephalus 31 HP:0000238
5 developmental regression 31 HP:0002376
6 hearing impairment 31 HP:0000365
7 optic atrophy 31 HP:0000648
8 blindness 31 HP:0000618
9 hypertonia 31 HP:0001276
10 vomiting 31 HP:0002013
11 decreased nerve conduction velocity 31 HP:0000762
12 motor deterioration 31 HP:0002333
13 progressive spasticity 31 HP:0002191
14 hyperactive deep tendon reflexes 31 HP:0006801
15 decerebrate rigidity 31 HP:0025013
16 recurrent fever 31 HP:0001954
17 autoimmune thrombocytopenia 31 HP:0001973
18 sensorimotor neuropathy 31 HP:0007141
19 diffuse cerebral atrophy 31 HP:0002506
20 increased csf protein 31 HP:0002922
21 peripheral demyelination 31 HP:0011096
22 neurodegeneration 31 HP:0002180
23 cns demyelination 31 HP:0007305
24 abnormal flash visual evoked potentials 31 HP:0007928
25 seizure 31 HP:0001250
26 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
developmental regression
motor deterioration
mental deterioration
more
Head And Neck Eyes:
nystagmus
optic atrophy
blindness
abnormal flash visual evoked potentials (vep)

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

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting

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

Clinical features from OMIM®:

245200 (Updated 20-May-2021)

UMLS symptoms related to Krabbe Disease:


seizures; vomiting; hyperirritability

GenomeRNAi Phenotypes related to Krabbe Disease according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.13 JUN
2 Decreased viability GR00221-A-3 10.13 JUN
3 Decreased viability GR00249-S 10.13 CHIT1 GBA GLA IDUA JUN SNCA
4 Decreased viability GR00381-A-1 10.13 CHIT1 GLA IDUA SMPD1
5 Decreased viability GR00386-A-1 10.13 JUN M6PR
6 Decreased viability GR00402-S-2 10.13 ARSA CHIT1 GBA IDUA MBP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.86 SMPD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.86 GBA PLA2G2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.86 SMPD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.86 SMPD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.86 GBA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.86 SMPD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.86 GBA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.86 SMPD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.86 PLA2G2A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.86 PLA2G2A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.86 SMPD1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.86 SMPD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.86 SMPD1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.86 SMPD1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.86 PLA2G2A
22 Reduced mammosphere formation GR00396-S 9.17 FOSL1 GALC JUN PLA2G2A PLA2G4A PRKAB1

MGI Mouse Phenotypes related to Krabbe Disease:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.5 ARSA CASP3 CDH23 GALC GBA GLA
2 growth/size/body region MP:0005378 10.47 CASP3 CDH23 FOSL1 GALC GBA GLA
3 cellular MP:0005384 10.45 CASP3 CDH23 GALC GBA GLA IDUA
4 hematopoietic system MP:0005397 10.44 ARSA CASP3 CDH23 FOSL1 GALC GBA
5 homeostasis/metabolism MP:0005376 10.42 ARSA CASP3 CDH23 GALC GBA GLA
6 immune system MP:0005387 10.41 ARSA CASP3 CDH23 CHIT1 GALC GBA
7 cardiovascular system MP:0005385 10.37 CASP3 FOSL1 GALC GBA GLA IDUA
8 mortality/aging MP:0010768 10.36 CASP3 CDH23 FOSL1 GALC GBA GLA
9 nervous system MP:0003631 10.27 ARSA CASP3 CDH23 GALC GBA GLA
10 liver/biliary system MP:0005370 10.16 FOSL1 GALC GBA GLA IDUA JUN
11 muscle MP:0005369 10.06 CASP3 GALC GLA IDUA NOS2 PLA2G4A
12 reproductive system MP:0005389 10.03 CASP3 CDH23 IDUA M6PR MBP NOS2
13 renal/urinary system MP:0005367 10.02 CASP3 GALC GLA IDUA M6PR NOS2
14 hearing/vestibular/ear MP:0005377 10 ARSA CASP3 CDH23 IDUA MBP PSAP
15 skeleton MP:0005390 9.77 CASP3 CDH23 FOSL1 GALC GBA IDUA
16 respiratory system MP:0005388 9.76 CASP3 GBA JUN NOS2 PLA2G4A PRKAB1
17 vision/eye MP:0005391 9.4 CASP3 CDH23 GALC GLA IDUA JUN

Drugs & Therapeutics for Krabbe Disease

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

(show all 48)
# 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 Antirheumatic Agents Phase 2, Phase 3
10 Immunosuppressive Agents Phase 2, Phase 3
11 Alkylating 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
Mesna Approved, Investigational Phase 2 3375-50-6 598
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Mycophenolic acid Approved Phase 2 24280-93-1 446541
19
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
20
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
21
Hydroxyurea Approved Phase 2 127-07-1 3657
22
Melphalan Approved Phase 2 148-82-3 4053 460612
23
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
24
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
25
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
26
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
27
Tocopherol Approved, Investigational Phase 2 1406-66-2
28
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
29
rituximab Approved Phase 2 174722-31-7 10201696
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 Anti-Bacterial Agents Phase 2
34 Antibiotics, Antitubercular Phase 2
35 Antitubercular Agents Phase 2
36 Antifungal Agents Phase 2
37 Cyclosporins Phase 2
38 Anti-Infective Agents Phase 2
39 Dermatologic Agents Phase 2
40 Calcineurin Inhibitors Phase 2
41 Antimetabolites Phase 2
42 Alpha-lipoic Acid Phase 2
43 Tocotrienols Phase 2
44 Vitamins Phase 2
45 N-monoacetylcystine Phase 2
46 Thioctic Acid Phase 2
47 Tocopherols Phase 2
48 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:

(show all 20)
# 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 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
3 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
4 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)
5 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) Active, not recruiting NCT03406962 Phase 2 MGTA-456
6 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
7 A Phase 1/2 Open-Label, Multicenter Dose-Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects With Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy) Not yet recruiting NCT04771416 Phase 1, Phase 2
8 A Phase 1/2 Clinical Study of Intravenous Gene Transfer With an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation (RESKUE) Not yet recruiting NCT04693598 Phase 1, Phase 2
9 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
10 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
11 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 Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
12 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
13 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
14 A Longitudinal Observational Study That Will Evaluate Prospectively Clinical and Surrogate Parameters That Are Affected in Infant Patients With Globoid Cell Leukodystrophy Completed NCT00983879
15 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
16 The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry Recruiting NCT02993796
17 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
18 Diffusion Tensor Imaging (DTI) as a Tool to Identify Infants With Krabbe Disease in Urgent Need of Treatment Active, not recruiting NCT00787865
19 Biomarker for Krabbe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL Active, not recruiting NCT01425489
20 A Multicenter, Prospective, Longitudinal, Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (Krabbe Disease) 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 29 GALC

Anatomical Context for Krabbe Disease

MalaCards organs/tissues related to Krabbe Disease:

40
Eye, Brain, Bone Marrow, Bone, Spinal Cord, Skin, Kidney

Publications for Krabbe Disease

Articles related to Krabbe Disease:

(show top 50) (show all 924)
# Title Authors PMID Year
1
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 61 6 57 25 54
9272171 1997
2
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. 6 57 25 54 61
8786069 1996
3
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. 61 54 25 6 57
7581365 1995
4
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation. 61 6 57 25
21070211 2011
5
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. 61 25 57 6
20886637 2010
6
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. 61 25 6 57
9338580 1997
7
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. 61 54 6 57
16607461 2006
8
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. 54 61 6 57
8297359 1994
9
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. 61 25 54 6
17579360 2007
10
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. 6 54 61 25
15773042 2005
11
Protracted course of Krabbe disease in an adult patient bearing a novel mutation. 6 25 61 54
10448809 1999
12
Molecular basis of late-life globoid cell leukodystrophy. 25 6 61 54
10477434 1999
13
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. 6 25 61 54
9371928 1997
14
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. 61 54 25 6
9266397 1997
15
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. 61 6 57
8940268 1996
16
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. 61 6 25 54
8687180 1996
17
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. 25 6 54 61
8634707 1995
18
Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. 61 57 54 25
1817026 1991
19
The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). 57 6 61
7437911 1980
20
Precision newborn screening for lysosomal disorders. 6 25 61
29120458 2018
21
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. 61 25 6
30089515 2018
22
Adult-onset Krabbe disease in two generations of a Chinese family. 25 6 61
29951496 2018
23
Newborn screening for Krabbe disease in New York State: the first eight years' experience. 61 6 25
26795590 2016
24
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. 61 25 6
24252386 2014
25
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 25 6 61
23197103 2013
26
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. 61 25 6
22704718 2012
27
Peripheral neuropathy in Krabbe disease: electrodiagnostic findings. 61 57 25
16864819 2006
28
Krabbe disease: neurophysiologic studies and MRI correlations. 25 61 57
15326231 2004
29
Early peripheral nervous system manifestations of infantile Krabbe disease. 25 6 61
12699861 2003
30
Perinatal neuropathy as an early manifestation of Krabbe's disease. 57 25 61
6248003 1980
31
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. 6 25
27638593 2016
32
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. 6 54 61
20410102 2010
33
Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD). 54 6 61
16759875 2006
34
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. 25 57
15901860 2005
35
Krabbe disease: genetic aspects and progress toward therapy. 61 54 57
10833326 2000
36
Molecular heterogeneity of Krabbe disease. 61 54 6
10234611 1999
37
Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. 54 61 6
10464649 1997
38
Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. 61 57 54
8661004 1996
39
Molecular defects in Krabbe disease. 61 54 6
8595408 1995
40
Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. 61 54 57
8162701 1994
41
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. 6 54 61
8281145 1993
42
Globoid cell leukodystrophy: a family with both late-infantile and adult type. 57 54 61
1891085 1991
43
Krabbe disease locus mapped to chromosome 14 by genetic linkage. 54 61 57
1971996 1990
44
GALC mutations in Chinese patients with late-onset Krabbe disease: a case report. 61 6
31185936 2019
45
Report of a Case that Expands the Phenotype of Infantile Krabbe Disease. 61 6
31053700 2019
46
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months. 61 6
30777126 2019
47
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family. 61 6
30209698 2018
48
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type. 6 61
29615819 2018
49
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease. 61 6
28598007 2018
50
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. 6 61
27780934 2016

Variations for Krabbe Disease

ClinVar genetic disease variations for Krabbe Disease:

6 (show top 50) (show all 494)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GALC NM_000153.4(GALC):c.742G>A (p.Asp248Asn) SNV Benign, other 92509 rs34362748 GRCh37: 14:88442712-88442712
GRCh38: 14:87976368-87976368
2 GALC NM_000153.4(GALC):c.550C>T (p.Arg184Cys) SNV Benign, other 92506 rs1805078 GRCh37: 14:88450770-88450770
GRCh38: 14:87984426-87984426
3 GALC NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) SNV Benign, other 92497 rs398607 GRCh37: 14:88407888-88407888
GRCh38: 14:87941544-87941544
4 GALC NM_000153.4(GALC):c.628A>T (p.Arg210Ter) SNV Pathogenic 369724 rs202131052 GRCh37: 14:88442826-88442826
GRCh38: 14:87976482-87976482
5 PSAP NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) SNV Pathogenic 438801 rs1554879741 GRCh37: 10:73578850-73578850
GRCh38: 10:71819093-71819093
6 GALC NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) SNV Pathogenic 289955 rs375867319 GRCh37: 14:88412026-88412026
GRCh38: 14:87945682-87945682
7 GALC NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) SNV Pathogenic 30614 rs387906952 GRCh37: 14:88411937-88411937
GRCh38: 14:87945593-87945593
8 PSAP NM_002778.4(PSAP):c.207_209del (p.Val70del) Deletion Pathogenic 13369 rs757687480 GRCh37: 10:73591643-73591645
GRCh38: 10:71831886-71831888
9 GALC NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) SNV Pathogenic 3818 rs121908010 GRCh37: 14:88429736-88429736
GRCh38: 14:87963392-87963392
10 GALC GALC, 30-KB DEL, IVS10 Deletion Pathogenic 3819 GRCh37:
GRCh38:
11 GALC NM_000153.4(GALC):c.1796T>G (p.Ile599Ser) SNV Pathogenic 30615 rs387906953 GRCh37: 14:88407777-88407777
GRCh38: 14:87941433-87941433
12 GALC GALC, GLY553ARG SNV Pathogenic 30616 GRCh37:
GRCh38:
13 GALC GALC, IVS13DS, G-A, +1 SNV Pathogenic 30617 GRCh37:
GRCh38:
14 GALC GALC, 1-BP DEL, 1901T Deletion Pathogenic 30618 GRCh37:
GRCh38:
15 GALC NM_000153.4(GALC):c.953C>G (p.Pro318Arg) SNV Pathogenic 30620 rs387906954 GRCh37: 14:88431929-88431929
GRCh38: 14:87965585-87965585
16 GALC NM_000153.4(GALC):c.121G>A (p.Gly41Ser) SNV Pathogenic 30621 rs387906955 GRCh37: 14:88459388-88459388
GRCh38: 14:87993044-87993044
17 GALC NM_000153.4(GALC):c.194G>A (p.Gly65Glu) SNV Pathogenic 433542 rs1555384318 GRCh37: 14:88459315-88459315
GRCh38: 14:87992971-87992971
18 GALC GRCh37/hg19 14q31.3(chr14:88391502-88423172) copy number gain Pathogenic 830312 GRCh37: 14:88391502-88423172
GRCh38:
19 GALC NC_000014.9:g.(?_87934720)_(87950758_?)del Deletion Pathogenic 830496 GRCh37: 14:88401064-88417102
GRCh38:
20 GALC NC_000014.9:g.(?_87963374)_(87963521_?)del Deletion Pathogenic 831215 GRCh37: 14:88429718-88429865
GRCh38:
21 GALC NC_000014.9:g.(?_87992960)_(87993627_?)del Deletion Pathogenic 831740 GRCh37: 14:88459304-88459971
GRCh38:
22 GALC NM_000153.4(GALC):c.1793G>A (p.Trp598Ter) SNV Pathogenic 837302 GRCh37: 14:88407780-88407780
GRCh38: 14:87941436-87941436
23 GALC NM_000153.4(GALC):c.2002A>C (p.Thr668Pro) SNV Pathogenic 857343 GRCh37: 14:88401132-88401132
GRCh38: 14:87934788-87934788
24 GALC NM_000153.4(GALC):c.453G>A (p.Trp151Ter) SNV Pathogenic 642301 rs745620101 GRCh37: 14:88450867-88450867
GRCh38: 14:87984523-87984523
25 GALC NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) SNV Pathogenic 651170 rs757407613 GRCh37: 14:88431878-88431878
GRCh38: 14:87965534-87965534
26 GALC NM_000153.4(GALC):c.1335_1336del (p.Trp446fs) Deletion Pathogenic 958166 GRCh37: 14:88416191-88416192
GRCh38: 14:87949847-87949848
27 GALC NM_000153.4(GALC):c.863G>A (p.Trp288Ter) SNV Pathogenic 940269 GRCh37: 14:88434724-88434724
GRCh38: 14:87968380-87968380
28 GALC NM_000153.4(GALC):c.674dup (p.Ser226fs) Duplication Pathogenic 936833 GRCh37: 14:88442779-88442780
GRCh38: 14:87976435-87976436
29 GALC NM_000153.4(GALC):c.210dup (p.Leu71fs) Duplication Pathogenic 947889 GRCh37: 14:88454852-88454853
GRCh38: 14:87988508-87988509
30 GALC NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) SNV Pathogenic 456712 rs770485731 GRCh37: 14:88417068-88417068
GRCh38: 14:87950724-87950724
31 GALC NM_000153.4(GALC):c.442+1G>A SNV Pathogenic 931961 GRCh37: 14:88452832-88452832
GRCh38: 14:87986488-87986488
32 GALC NC_000014.9:g.(?_87934712)_(87950768_?)del Deletion Pathogenic 456710 GRCh37: 14:88401056-88417112
GRCh38: 14:87934712-87950768
33 GALC NC_000014.9:g.(?_87968315)_(87968510_?)del Deletion Pathogenic 526829 GRCh37: 14:88434659-88434854
GRCh38: 14:87968315-87968510
34 GALC GRCh37/hg19 14q31.3(chr14:88399828-88422607) copy number loss Pathogenic 915992 GRCh37: 14:88399828-88422607
GRCh38:
35 GALC NM_000153.4(GALC):c.205C>T (p.Arg69Ter) SNV Pathogenic 195020 rs771111145 GRCh37: 14:88454858-88454858
GRCh38: 14:87988514-87988514
36 GALC NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) SNV Pathogenic 633229 rs751975987 GRCh37: 14:88459373-88459373
GRCh38: 14:87993029-87993029
37 GALC NM_000153.4(GALC):c.169G>A (p.Gly57Ser) SNV Pathogenic 193054 rs11623 GRCh37: 14:88459340-88459340
GRCh38: 14:87992996-87992996
38 GALC NM_000153.4(GALC):c.155del (p.Gly52fs) Deletion Pathogenic 418220 rs1064793131 GRCh37: 14:88459354-88459354
GRCh38: 14:87993010-87993010
39 GALC NM_000153.4(GALC):c.430del (p.Ile144fs) Deletion Pathogenic 197110 rs775277935 GRCh37: 14:88452845-88452845
GRCh38: 14:87986501-87986501
40 GALC NM_000153.4(GALC):c.1339-1G>T SNV Pathogenic 996548 GRCh37: 14:88414223-88414223
GRCh38: 14:87947879-87947879
41 GALC NM_000153.4(GALC):c.1158_1161+6del Deletion Pathogenic 444335 rs759068540 GRCh37: 14:88429722-88429731
GRCh38: 14:87963378-87963387
42 GALC NM_000153.4(GALC):c.379C>T (p.Arg127Ter) SNV Pathogenic 429982 rs200532368 GRCh37: 14:88452896-88452896
GRCh38: 14:87986552-87986552
43 GALC NM_000153.4(GALC):c.1472del (p.Lys491fs) Deletion Pathogenic 188826 rs771489305 GRCh37: 14:88414089-88414089
GRCh38: 14:87947745-87947745
44 GALC NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) SNV Pathogenic/Likely pathogenic 188997 rs749893889 GRCh37: 14:88411976-88411976
GRCh38: 14:87945632-87945632
45 GALC NM_000153.4(GALC):c.7dup (p.Glu3fs) Duplication Pathogenic/Likely pathogenic 550993 rs1555384381 GRCh37: 14:88459501-88459502
GRCh38: 14:87993157-87993158
46 GALC NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer) Deletion Pathogenic/Likely pathogenic 554777 rs1555378534 GRCh37: 14:88406259-88406259
GRCh38: 14:87939915-87939915
47 GALC NM_000153.4(GALC):c.908C>T (p.Ser303Phe) SNV Pathogenic/Likely pathogenic 280957 rs756352952 GRCh37: 14:88434679-88434679
GRCh38: 14:87968335-87968335
48 GALC NM_000153.4(GALC):c.955del (p.Tyr319fs) Deletion Pathogenic/Likely pathogenic 188767 rs786204454 GRCh37: 14:88431927-88431927
GRCh38: 14:87965583-87965583
49 GALC NM_000153.4(GALC):c.433dup (p.Thr145fs) Duplication Pathogenic/Likely pathogenic 553285 rs1555383679 GRCh37: 14:88452841-88452842
GRCh38: 14:87986497-87986498
50 GALC NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) Deletion Pathogenic/Likely pathogenic 555939 rs749708827 GRCh37: 14:88406260-88406264
GRCh38: 14:87939916-87939920

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

72 (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 rs136034537
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 rs155538389
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

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:

36
# Name Kegg Source Accession
1 Sphingolipid metabolism hsa00600
2 Lysosome hsa04142

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 SMPD1 PSAP PLA2G6 PLA2G4A PLA2G2A NOS2
2
Show member pathways
12.26 PRKAB1 PLA2G6 PLA2G4A PLA2G2A JUN
3
Show member pathways
12.25 PLA2G4A NOS2 JUN FOSL1
4
Show member pathways
12.21 PLA2G6 PLA2G4A PLA2G2A JUN FOSL1 CASP3
5
Show member pathways
12.12 MBP JUN FOSL1 CASP3
6
Show member pathways
11.84 SMPD1 PSAP GLA GBA GALC ARSA
7
Show member pathways
11.82 SMPD1 JUN FOSL1 CASP3
8 11.63 PLA2G6 PLA2G2A NOS2 MBP CASP3
9 11.6 NOS2 JUN CASP3
10
Show member pathways
11.59 JUN FOSL1 CASP3
11 11.45 PLA2G4A PLA2G2A CASP3
12 11.44 PLA2G4A NOS2 JUN CASP3
13 11.36 NOS2 JUN CASP3
14 11.33 SMPD1 PSAP M6PR IDUA GLA GBA
15 11.18 PLA2G4A NOS2 JUN
16 10.99 PLA2G4A PLA2G2A NOS2
17 10.77 SMPD1 PLA2G4A

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 9.76 SNCA SMPD1 PSAP PLA2G6 PLA2G2A GBA
2 lysosomal lumen GO:0043202 9.5 SMPD1 PSAP IDUA GLA GBA GALC
3 lysosome GO:0005764 9.32 SNCA SMPD1 PSAP M6PR IDUA GLA

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.85 SNCA SMPD1 JUN FOSL1 CASP3
2 response to drug GO:0042493 9.83 SNCA SMPD1 JUN FOSL1 CASP3
3 response to lipopolysaccharide GO:0032496 9.78 SNCA NOS2 JUN CASP3
4 phospholipid metabolic process GO:0006644 9.74 SNCA PLA2G4A PLA2G2A
5 regulation of macroautophagy GO:0016241 9.73 PRKAB1 GBA CASP3
6 response to hydrogen peroxide GO:0042542 9.7 JUN FOSL1 CASP3
7 lipid metabolic process GO:0006629 9.7 PSAP PRKAB1 PLA2G6 PLA2G4A PLA2G2A GBA
8 sphingolipid metabolic process GO:0006665 9.69 PSAP GBA GALC
9 lipid catabolic process GO:0016042 9.67 PLA2G6 PLA2G4A PLA2G2A GALC
10 phosphatidylcholine catabolic process GO:0034638 9.58 PLA2G6 PLA2G4A
11 response to pH GO:0009268 9.58 GBA ARSA
12 cardiolipin acyl-chain remodeling GO:0035965 9.55 PLA2G6 PLA2G4A
13 positive regulation of DNA-templated transcription, initiation GO:2000144 9.54 JUN FOSL1
14 phosphatidylcholine acyl-chain remodeling GO:0036151 9.5 PLA2G6 PLA2G4A PLA2G2A
15 metabolic process GO:0008152 9.5 SMPD1 PLA2G2A IDUA GLA GBA GALC
16 phosphatidic acid metabolic process GO:0046473 9.49 PLA2G6 PLA2G2A
17 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.43 PLA2G6 PLA2G4A PLA2G2A
18 termination of signal transduction GO:0023021 9.4 SMPD1 GBA
19 glycosphingolipid metabolic process GO:0006687 9.1 SMPD1 PSAP GLA GBA GALC ARSA

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 SMPD1 PLA2G6 PLA2G4A PLA2G2A IDUA GLA
2 protease binding GO:0002020 9.63 PSAP MBP CASP3
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.54 IDUA GLA CHIT1
4 phospholipase A2 activity GO:0004623 9.5 PLA2G6 PLA2G4A PLA2G2A
5 calcium-dependent phospholipase A2 activity GO:0047498 9.48 PLA2G4A PLA2G2A
6 phosphatidyl phospholipase B activity GO:0102545 9.43 PLA2G6 PLA2G4A
7 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 9.43 PLA2G6 PLA2G4A PLA2G2A
8 calcium-independent phospholipase A2 activity GO:0047499 9.4 PLA2G6 PLA2G4A
9 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 9.33 PLA2G6 PLA2G4A PLA2G2A
10 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 SMPD1 IDUA GLA GBA GALC CHIT1

Sources for Krabbe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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