MCID: ADL071
MIFTS: 11

Adult Krabbe Disease

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

Aliases & Classifications for Adult Krabbe Disease

MalaCards integrated aliases for Adult Krabbe Disease:

Name: Adult Krabbe Disease 59

Classifications:



External Ids:

ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 73 C0268252
Orphanet 59 ORPHA206448

Summaries for Adult Krabbe Disease

MalaCards based summary : Adult Krabbe Disease is related to krabbe disease and paraplegia. An important gene associated with Adult Krabbe Disease is GALC (Galactosylceramidase). Affiliated tissues include eye.

Related Diseases for Adult Krabbe Disease

Diseases in the Krabbe Disease family:

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

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

# Related Disease Score Top Affiliating Genes
1 krabbe disease 10.0
2 paraplegia 10.0
3 autosomal dominant leukodystrophy with autonomic disease 10.0

Symptoms & Phenotypes for Adult Krabbe Disease

Drugs & Therapeutics for Adult Krabbe Disease

Search Clinical Trials , NIH Clinical Center for Adult Krabbe Disease

Genetic Tests for Adult Krabbe Disease

Anatomical Context for Adult Krabbe Disease

MalaCards organs/tissues related to Adult Krabbe Disease:

41
Eye

Publications for Adult Krabbe Disease

Articles related to Adult Krabbe Disease:

# Title Authors PMID Year
1
Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft. 38
29479774 2018
2
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 38
27679535 2016
3
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 38
23197103 2013
4
MR imaging and proton MR spectroscopy in adult Krabbe disease. 38
11003282 2000

Variations for Adult Krabbe Disease

Expression for Adult Krabbe Disease

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

Pathways for Adult Krabbe Disease

GO Terms for Adult Krabbe Disease

Sources for Adult Krabbe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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