MCID: INF122
MIFTS: 24

Infantile Krabbe Disease

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

Aliases & Classifications for Infantile Krabbe Disease

MalaCards integrated aliases for Infantile Krabbe Disease:

Name: Infantile Krabbe Disease 56
Infantile Globoid Cell Leukodystrophy 69
Krabbe Disease, Classic Form 56
Krabbe Disease, Early-Onset 56

Classifications:



External Ids:

Orphanet 56 ORPHA206436
UMLS via Orphanet 70 C0751273
ICD10 via Orphanet 34 E75.2

Summaries for Infantile Krabbe Disease

MalaCards based summary : Infantile Krabbe Disease, also known as infantile globoid cell leukodystrophy, is related to krabbe disease and conjunctivitis. 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:

id Related Disease Score Top Affiliating Genes
1 krabbe disease 11.6
2 conjunctivitis 9.8
3 overlap myositis 9.6 GALC PSAP
4 graves disease 1 9.6 GALC PSAP
5 dysostosis 9.5 GALC PSAP
6 pre-eclampsia 9.5 GALC PSAP
7 mitochondrial dna depletion syndrome 1 9.4 GALC PSAP
8 uterine corpus cancer 9.2 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:


id 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5 An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) Withdrawn NCT01093105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:

39
Eye

Publications for Infantile Krabbe Disease

Articles related to Infantile Krabbe Disease:

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

id 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:

id 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:

id 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
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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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