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MCID: ADL071
MIFTS: 19

Adult Krabbe Disease

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Adult Krabbe Disease

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MalaCards integrated aliases for Adult Krabbe Disease:

Name: Adult Krabbe Disease 58

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E75.2
UMLS via Orphanet 72 C0268252
Orphanet 58 ORPHA206448
Sources

Summaries for Adult Krabbe Disease

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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, pons and medulla oblongata, and related phenotypes are ataxia and babinski sign

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Related Diseases for Adult Krabbe Disease

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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 10.1
2 paraplegia 10.1
3 guillain-barre syndrome 10.0
4 polyneuropathy 10.0
5 chronic inflammatory demyelinating polyradiculoneuropathy 10.0
6 demyelinating polyneuropathy 10.0
7 autosomal dominant leukodystrophy with autonomic disease 10.0

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



Diseases related to Adult Krabbe Disease
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Symptoms & Phenotypes for Adult Krabbe Disease

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Human phenotypes related to Adult Krabbe Disease:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
2 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
3 abnormal enzyme/coenzyme activity 58 31 frequent (33%) Frequent (79-30%) HP:0012379
4 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
5 abnormal corpus callosum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001273
6 abnormality of midbrain morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002418
7 progressive spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0007199
8 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
9 cns demyelination 58 31 frequent (33%) Frequent (79-30%) HP:0007305
10 abnormality of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0007361
11 hoffmann sign 58 31 frequent (33%) Frequent (79-30%) HP:0031993
12 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
13 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
14 progressive neurologic deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002344
15 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
16 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
17 upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003484
18 sensorimotor neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007141
19 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
20 peripheral demyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0011096
21 impaired tactile sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010830
22 acroparesthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031006
23 prolonged brainstem auditory evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0004466
24 abnormality of the medulla oblongata 58 31 occasional (7.5%) Occasional (29-5%) HP:0011441
25 pes cavus 58 31 very rare (1%) Very rare (<4-1%) HP:0001761
26 erectile dysfunction 58 31 very rare (1%) Very rare (<4-1%) HP:0100639
27 broad-based gait 58 31 very rare (1%) Very rare (<4-1%) HP:0002136
28 tetraparesis 58 31 very rare (1%) Very rare (<4-1%) HP:0002273
29 hemiplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0002301
30 loss of speech 58 31 very rare (1%) Very rare (<4-1%) HP:0002371
31 urinary incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0000020
32 morphological abnormality of the corticospinal tract 31 very rare (1%) HP:0002492
33 spasticity 58 Frequent (79-30%)
34 gait disturbance 58 Occasional (29-5%)
35 mental deterioration 58 Occasional (29-5%)
36 peripheral neuropathy 58 Occasional (29-5%)
37 upper motor neuron dysfunction 58 Very frequent (99-80%)
38 sensory impairment 58 Occasional (29-5%)
39 functional motor deficit 58 Occasional (29-5%)
40 morphological abnormality of the pyramidal tract 58 Occasional (29-5%)
41 abnormality of the corticospinal tract 58 Very rare (<4-1%)
Sources

Drugs & Therapeutics for Adult Krabbe Disease

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Search Clinical Trials , NIH Clinical Center for Adult Krabbe Disease

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Genetic Tests for Adult Krabbe Disease

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Anatomical Context for Adult Krabbe Disease

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MalaCards organs/tissues related to Adult Krabbe Disease:

40
Eye, Pons, Medulla Oblongata
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Publications for Adult Krabbe Disease

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Articles related to Adult Krabbe Disease:

# Title Authors PMID Year
1
A Case of Adult Krabbe Disease that was Successfully Treated with Intravenous Immunoglobulin. 61
33191329 2020
2
Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft. 61
29479774 2018
3
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 61
27679535 2016
4
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 61
23197103 2013
5
MR imaging and proton MR spectroscopy in adult Krabbe disease. 61
11003282 2000
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Variations for Adult Krabbe Disease

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Expression for Adult Krabbe Disease

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

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GO Terms for Adult Krabbe Disease

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Sources for Adult Krabbe Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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