MCID: INF122
MIFTS: 27

Infantile Krabbe Disease

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

Aliases & Classifications for Infantile Krabbe Disease

MalaCards integrated aliases for Infantile Krabbe Disease:

Name: Infantile Krabbe Disease 55
Infantile Globoid Cell Leukodystrophy 69
Krabbe Disease, Classic Form 55
Krabbe Disease, Early-Onset 55

Classifications:



External Ids:

Orphanet 55 ORPHA206436
UMLS via Orphanet 70 C0751273
ICD10 via Orphanet 33 E75.2
UMLS 69 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 aging. 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.

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 32.0 GALC PSAP
2 aging 9.9
3 conjunctivitis 9.9
4 sphingolipidosis 9.6 GALC PSAP
5 metachromatic leukodystrophy 9.6 GALC PSAP
6 lipid storage disease 9.5 GALC PSAP
7 leukodystrophy 9.4 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5 An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) Withdrawn NCT01093105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:

38
Eye

Publications for Infantile Krabbe Disease

Articles related to Infantile Krabbe Disease:

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

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

Sources for Infantile Krabbe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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