MCID: LTN017
MIFTS: 14

Late-Infantile/juvenile Krabbe Disease

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

Aliases & Classifications for Late-Infantile/juvenile Krabbe Disease

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

Name: Late-Infantile/juvenile Krabbe Disease 58
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 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0012379
2 increased csf protein 58 31 hallmark (90%) Very frequent (99-80%) HP:0002922
3 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
4 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
5 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
6 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
7 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
8 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
9 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
10 spastic diplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001264
11 progressive inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002505
12 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
13 abnormal cns myelination 58 31 frequent (33%) Frequent (79-30%) HP:0011400
14 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
15 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
16 loss of speech 58 31 frequent (33%) Frequent (79-30%) HP:0002371
17 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
18 eeg with persistent abnormal rhythmic activity 58 31 frequent (33%) Frequent (79-30%) HP:0010846
19 prolonged brainstem auditory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0004466
20 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
21 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
22 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
23 tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002445
24 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
25 slurred speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001350
26 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
27 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
28 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
29 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
30 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
31 upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003484
32 mood changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001575
33 impaired tactile sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010830
34 neuromuscular dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002068
35 acroparesthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031006
36 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
37 irritability 58 31 very rare (1%) Very rare (<4-1%) HP:0000737
38 seizures 58 Occasional (29-5%)
39 gait disturbance 58 Frequent (79-30%)
40 visual impairment 58 Occasional (29-5%)
41 peripheral neuropathy 58 Frequent (79-30%)
42 upper motor neuron dysfunction 58 Frequent (79-30%)
43 lower limb spasticity 58 Frequent (79-30%)
44 functional motor deficit 58 Frequent (79-30%)
45 febrile seizures 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

Anatomical Context for Late-Infantile/juvenile Krabbe Disease

MalaCards organs/tissues related to Late-Infantile/juvenile Krabbe Disease:

40
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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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