MCID: INF122
MIFTS: 27

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 60
Infantile Globoid Cell Leukodystrophy 74
Krabbe Disease, Classic Form 60
Krabbe Disease, Early-Onset 60

Classifications:



External Ids:

ICD10 via Orphanet 35 E75.2
UMLS via Orphanet 75 C0751273
Orphanet 60 ORPHA206436
UMLS 74 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 sphingolipidosis. 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, bone and bone marrow.

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:

# Related Disease Score Top Affiliating Genes
1 krabbe disease 32.3 GALC PSAP
2 sphingolipidosis 9.7 GALC PSAP
3 metachromatic leukodystrophy 9.7 GALC PSAP
4 leukodystrophy 9.6 GALC PSAP
5 lipid storage disease 9.5 GALC PSAP

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 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
2 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
3 Krabbe Disease Global Patient Registry Recruiting NCT02993796
4 Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease Active, not recruiting NCT00787865
5 An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) Withdrawn NCT01093105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:

42
Eye, Bone, Bone Marrow

Publications for Infantile Krabbe Disease

Articles related to Infantile Krabbe Disease:

(show all 30)
# Title Authors Year
1
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. ( 29391017 )
2018
2
Long-Term Functional Outcomes following Hematopoietic Stem Cell Transplant for Early Infantile Krabbe Disease. ( 29933067 )
2018
3
Diffuse Cranial Nerve Involvement in a Patient With Early Infantile Krabbe Disease. ( 30190178 )
2018
4
Should states adopt newborn screening for early infantile Krabbe disease? ( 26845105 )
2016
5
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. ( 27785412 )
2016
6
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. ( 25844309 )
2015
7
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). ( 27442402 )
2015
8
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. ( 22150413 )
2012
9
Intracranial optic nerve enlargement in infantile Krabbe disease. ( 22585439 )
2012
10
Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease. ( 22964446 )
2012
11
Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. ( 21479982 )
2011
12
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. ( 21824559 )
2011
13
DTI registration in atlas based fiber analysis of infantile Krabbe disease. ( 21256236 )
2011
14
Weighing the evidence for newborn screening for early-infantile Krabbe disease. ( 20601893 )
2010
15
Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease. ( 19386732 )
2009
16
Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls. ( 18438656 )
2008
17
Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. ( 18265968 )
2008
18
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. ( 16923928 )
2006
19
Familial infantile globoid cell leukodystrophy (Krabbes disease). ( 15123879 )
2004
20
Early peripheral nervous system manifestations of infantile Krabbe disease. ( 12699861 )
2003
21
Infantile Krabbe disease. ( 14623741 )
2003
22
Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease). ( 12390432 )
2002
23
Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. ( 9408597 )
1997
24
Serial MRI and neurophysiological studies in late-infantile Krabbe disease. ( 8916164 )
1996
25
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. ( 7581365 )
1995
26
Deceptively normal MR in early infantile Krabbe disease. ( 8141050 )
1994
27
Infantile Krabbe disease: complementary CT and MR findings. ( 8237697 )
1993
28
Serial MRI and CT findings in infantile Krabbe disease. ( 1476576 )
1992
29
A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase. ( 3369670 )
1988
30
An atypical case of infantile globoid cell leukodystrophy. ( 6877527 )
1983

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 GALC PSAP
2 10.71 GALC PSAP

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 GALC PSAP
2 lysosomal lumen GO:0043202 8.62 GALC PSAP

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 9.16 GALC PSAP
2 sphingolipid metabolic process GO:0006665 8.96 GALC PSAP
3 glycosphingolipid metabolic process GO:0006687 8.62 GALC PSAP

Sources for Infantile Krabbe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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