MCID: INF122
MIFTS: 25

Infantile Krabbe Disease

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

Aliases & Classifications for Infantile Krabbe Disease

MalaCards integrated aliases for Infantile Krabbe Disease:

Name: Infantile Krabbe Disease 58
Infantile Globoid Cell Leukodystrophy 71
Krabbe Disease, Classic Form 58
Krabbe Disease, Early-Onset 58

Classifications:

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


External Ids:

ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 72 C0751273
Orphanet 58 ORPHA206436
UMLS 71 C0751273

Summaries for Infantile Krabbe Disease

MalaCards based summary : Infantile Krabbe Disease, also known as infantile globoid cell leukodystrophy, is related to krabbe disease and leukodystrophy. An important gene associated with Infantile Krabbe Disease is GALC (Galactosylceramidase), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include eye, testes and brain.

Related Diseases for Infantile Krabbe Disease

Diseases in the Krabbe Disease family:

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

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 krabbe disease 32.4 PSAP GALC
2 leukodystrophy 29.8 PSAP GALC
3 lysosomal storage disease 28.9 PSAP GALC
4 neuronal ceroid-lipofuscinoses 11.3
5 spasticity 10.3
6 3-methylglutaconic aciduria, type iii 10.2
7 autosomal recessive disease 10.2
8 peripheral nervous system disease 10.2
9 neuropathy 10.2
10 spastic diplegia 10.0
11 quadriplegia 10.0
12 cerebral atrophy 10.0
13 hypotonia 10.0
14 gaucher disease, perinatal lethal 9.6 PSAP GALC
15 farber lipogranulomatosis 9.6 PSAP GALC
16 gm1 gangliosidosis 9.6 PSAP GALC
17 gaucher disease, type i 9.6 PSAP GALC
18 sphingolipidosis 9.6 PSAP GALC
19 metachromatic leukodystrophy 9.5 PSAP GALC
20 lipid storage disease 9.4 PSAP GALC

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



Diseases related to Infantile Krabbe Disease

Symptoms & Phenotypes for Infantile Krabbe Disease

Drugs & Therapeutics for Infantile Krabbe Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Longitudinal Observational Study That Will Evaluate Prospectively Clinical and Surrogate Parameters That Are Affected in Infant Patients With Globoid Cell Leukodystrophy Completed NCT00983879
2 The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry Recruiting NCT02993796
3 Diffusion Tensor Imaging (DTI) as a Tool to Identify Infants With Krabbe Disease in Urgent Need of Treatment Active, not recruiting NCT00787865
4 A Multicenter, Prospective, Longitudinal, Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (Krabbe Disease) Withdrawn NCT01093105

Search NIH Clinical Center for Infantile Krabbe Disease

Genetic Tests for Infantile Krabbe Disease

Anatomical Context for Infantile Krabbe Disease

MalaCards organs/tissues related to Infantile Krabbe Disease:

40
Eye, Testes, Brain

Publications for Infantile Krabbe Disease

Articles related to Infantile Krabbe Disease:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Rare Saposin A deficiency: Novel variant and psychosine analysis. 61
31439510 2020
2
Ethical issues with testing and treatment for Krabbe disease. 61
31090922 2019
3
Report of a Case that Expands the Phenotype of Infantile Krabbe Disease. 61
31053700 2019
4
Health utilities and parental quality of life effects for three rare conditions tested in newborns. 61
30671727 2019
5
Long-Term Functional Outcomes after Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease. 61
29933067 2018
6
Diffuse Cranial Nerve Involvement in a Patient With Early Infantile Krabbe Disease. 61
30190178 2018
7
Precision newborn screening for lysosomal disorders. 61
29120458 2018
8
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. 61
29391017 2018
9
Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study. 61
28855403 2017
10
Psychosine, a marker of Krabbe phenotype and treatment effect. 61
28579020 2017
11
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. 61
28168127 2017
12
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. 61
27171547 2016
13
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. 61
27785412 2016
14
Insights into the Pathogenesis and Treatment of Krabbe Disease. 61
27491217 2016
15
Should states adopt newborn screening for early infantile Krabbe disease? 61
26845105 2016
16
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 61
27679535 2016
17
Midbrain morphology reflects extent of brain damage in Krabbe disease. 61
25859833 2015
18
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. 61
25844309 2015
19
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). 61
27442402 2015
20
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. 61
23620143 2013
21
Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. 61
23419961 2013
22
Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease. 61
22964446 2012
23
Intracranial optic nerve enlargement in infantile Krabbe disease. 61
22585439 2012
24
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. 61
22150413 2012
25
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. 61
21824559 2011
26
Axonopathy is a compounding factor in the pathogenesis of Krabbe disease. 61
21373782 2011
27
Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective. 61
21285037 2011
28
Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. 61
21479982 2011
29
DTI registration in atlas based fiber analysis of infantile Krabbe disease. 61
21256236 2011
30
Peripheral neuropathy in the Twitcher mouse involves the activation of axonal caspase 3. 61
21929508 2011
31
Weighing the evidence for newborn screening for early-infantile Krabbe disease. 61
20601893 2010
32
Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. 61
20446225 2009
33
The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. 61
19346954 2009
34
Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease. 61
19386732 2009
35
Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls. 61
18438656 2008
36
Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. 61
18265968 2008
37
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. 61
16923928 2006
38
Trends in haematopoietic cell transplantation for inborn errors of metabolism. 61
16763911 2006
39
Krabbe disease: neurophysiologic studies and MRI correlations. 61
15326231 2004
40
Infantile Krabbe disease. 61
14623741 2003
41
Early peripheral nervous system manifestations of infantile Krabbe disease. 61
12699861 2003
42
Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. 61
9408597 1997
43
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. 61
9266397 1997
44
Serial MRI and neurophysiological studies in late-infantile Krabbe disease. 61
8916164 1996
45
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. 61
8786069 1996
46
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. 61
8634707 1995
47
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. 61
7581365 1995
48
Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease. 61
7572154 1995
49
Deceptively normal MR in early infantile Krabbe disease. 61
8141050 1994
50
Infantile Krabbe disease: complementary CT and MR findings. 61
8237697 1993

Variations for Infantile Krabbe Disease

Expression for Infantile Krabbe Disease

Search GEO for disease gene expression data for Infantile Krabbe Disease.

Pathways for Infantile Krabbe Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 PSAP GALC
2 10.71 PSAP GALC

GO Terms for Infantile Krabbe Disease

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 PSAP GALC
2 lysosomal lumen GO:0043202 8.62 PSAP GALC

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.32 PSAP GALC
2 myelination GO:0042552 9.26 PSAP GALC
3 sphingolipid metabolic process GO:0006665 9.16 PSAP GALC
4 glycosphingolipid metabolic process GO:0006687 8.96 PSAP GALC
5 galactosylceramide catabolic process GO:0006683 8.62 PSAP GALC

Sources for Infantile Krabbe Disease

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