MCID: LTN017
MIFTS: 16

Late-Infantile/juvenile Krabbe Disease

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Late-Infantile/juvenile Krabbe Disease

MalaCards integrated aliases for Late-Infantile/juvenile Krabbe Disease:

Name: Late-Infantile/juvenile Krabbe Disease 58 28
Krabbe Disease, Late-Onset 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Late-Infantile/juvenile Krabbe Disease

MalaCards based summary: Late-Infantile/juvenile Krabbe Disease, is also known as krabbe disease, late-onset. An important gene associated with Late-Infantile/juvenile Krabbe Disease is GALC (Galactosylceramidase). Affiliated tissues include eye, and related phenotypes are abnormal enzyme/coenzyme activity and increased csf protein

Related Diseases for Late-Infantile/juvenile Krabbe Disease

Diseases in the Krabbe Disease family:

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

Symptoms & Phenotypes for Late-Infantile/juvenile Krabbe Disease

Human phenotypes related to Late-Infantile/juvenile Krabbe Disease:

58 30 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012379
2 increased csf protein 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002922
3 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
HP:0002376
4 abnormality of visual evoked potentials 58 30 Frequent (33%) Frequent (79-30%)
HP:0000649
5 decreased nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000762
6 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
7 mental deterioration 58 30 Frequent (33%) Frequent (79-30%)
HP:0001268
8 peripheral neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0009830
9 difficulty walking 58 30 Frequent (33%) Frequent (79-30%)
HP:0002355
10 spastic paraparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002313
11 spastic diplegia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001264
12 visual loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0000572
13 abnormal cns myelination 58 30 Frequent (33%) Frequent (79-30%)
HP:0011400
14 clumsiness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002312
15 frequent falls 58 30 Frequent (33%) Frequent (79-30%)
HP:0002359
16 loss of speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0002371
17 esotropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000565
18 eeg with persistent abnormal rhythmic activity 58 30 Frequent (33%) Frequent (79-30%)
HP:0010846
19 prolonged brainstem auditory evoked potentials 58 30 Frequent (33%) Frequent (79-30%)
HP:0004466
20 loss of ambulation 30 Frequent (33%) HP:0002505
21 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
22 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
23 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
24 tetraplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002445
25 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
26 slurred speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001350
27 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
28 pes cavus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001761
29 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011968
30 hemiplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002301
31 upper limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003484
32 impaired tactile sensation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010830
33 neuromuscular dysphagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002068
34 acroparesthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031006
35 emotional lability 30 Occasional (7.5%) HP:0000712
36 febrile seizure (within the age range of 3 months to 6 years) 30 Occasional (7.5%) HP:0002373
37 axial hypotonia 30 Occasional (7.5%) HP:0008936
38 irritability 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000737
39 seizure 58 Occasional (29-5%)
40 gait disturbance 58 Frequent (79-30%)
41 visual impairment 58 Occasional (29-5%)
42 upper motor neuron dysfunction 58 Frequent (79-30%)
43 progressive inability to walk 58 Frequent (79-30%)
44 lower limb spasticity 58 Frequent (79-30%)
45 functional motor deficit 58 Frequent (79-30%)
46 muscular hypotonia of the trunk 58 Occasional (29-5%)
47 febrile seizures 58 Occasional (29-5%)
48 mood changes 58 Occasional (29-5%)

Drugs & Therapeutics for Late-Infantile/juvenile Krabbe Disease

Search Clinical Trials, NIH Clinical Center for Late-Infantile/juvenile Krabbe Disease

Genetic Tests for Late-Infantile/juvenile Krabbe Disease

Genetic tests related to Late-Infantile/juvenile Krabbe Disease:

# Genetic test Affiliating Genes
1 Late-Infantile/juvenile Krabbe Disease 28

Anatomical Context for Late-Infantile/juvenile Krabbe Disease

Organs/tissues related to Late-Infantile/juvenile Krabbe Disease:

MalaCards : Eye

Publications for Late-Infantile/juvenile Krabbe Disease

Variations for Late-Infantile/juvenile Krabbe Disease

Expression for Late-Infantile/juvenile Krabbe Disease

Search GEO for disease gene expression data for Late-Infantile/juvenile Krabbe Disease.

Pathways for Late-Infantile/juvenile Krabbe Disease

GO Terms for Late-Infantile/juvenile Krabbe Disease

Sources for Late-Infantile/juvenile Krabbe Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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