MCID: ADL071
MIFTS: 18

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 58

Classifications:

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

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

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

Human phenotypes related to Adult Krabbe Disease:

58 31 (show all 42)
# 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 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
4 abnormal enzyme/coenzyme activity 58 31 frequent (33%) Frequent (79-30%) HP:0012379
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 impaired tactile sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010830
19 sensorimotor neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007141
20 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
21 peripheral demyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0011096
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 broad-based gait 58 31 very rare (1%) Very rare (<4-1%) HP:0002136
27 tetraparesis 58 31 very rare (1%) Very rare (<4-1%) HP:0002273
28 hemiplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0002301
29 loss of speech 58 31 very rare (1%) Very rare (<4-1%) HP:0002371
30 urinary incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0000020
31 morphological abnormality of the corticospinal tract 31 very rare (1%) HP:0002492
32 erectile dysfunction 31 very rare (1%) HP:0100639
33 gait disturbance 58 Occasional (29-5%)
34 spasticity 58 Frequent (79-30%)
35 peripheral neuropathy 58 Occasional (29-5%)
36 erectile abnormalities 58 Very rare (<4-1%)
37 mental deterioration 58 Occasional (29-5%)
38 upper motor neuron dysfunction 58 Very frequent (99-80%)
39 sensory impairment 58 Occasional (29-5%)
40 functional motor deficit 58 Occasional (29-5%)
41 morphological abnormality of the pyramidal tract 58 Occasional (29-5%)
42 abnormality of the corticospinal tract 58 Very rare (<4-1%)

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:

40
Eye, Pons, Medulla Oblongata

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. 61
29479774 2018
2
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. 61
27679535 2016
3
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 61
23197103 2013
4
MR imaging and proton MR spectroscopy in adult Krabbe disease. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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