MCID: MTC076
MIFTS: 28

Metachromatic Leukodystrophy, Juvenile Form

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

Aliases & Classifications for Metachromatic Leukodystrophy, Juvenile Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Juvenile Form:

Name: Metachromatic Leukodystrophy, Juvenile Form 59
Arylsulfatase a Deficiency, Juvenile Form 59
Mld, Juvenile Form 59

Characteristics:

Orphanet epidemiological data:

59
metachromatic leukodystrophy, juvenile form
Age of onset: Adolescent,Childhood; Age of death: adolescent,late childhood,young Adult;

Classifications:



Summaries for Metachromatic Leukodystrophy, Juvenile Form

MalaCards based summary : Metachromatic Leukodystrophy, Juvenile Form, also known as arylsulfatase a deficiency, juvenile form, is related to metachromatic leukodystrophy, adult form and metachromatic leukodystrophy, late infantile form. An important gene associated with Metachromatic Leukodystrophy, Juvenile Form is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include eye, and related phenotypes are frequent falls and developmental regression

Related Diseases for Metachromatic Leukodystrophy, Juvenile Form

Diseases in the Metachromatic Leukodystrophy family:

Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy, Late Infantile Form
Metachromatic Leukodystrophy, Juvenile Form

Diseases related to Metachromatic Leukodystrophy, Juvenile Form via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy, adult form 9.6 ARSA PSAP
2 metachromatic leukodystrophy, late infantile form 9.6 ARSA PSAP
3 inclusion-cell disease 9.6 ARSA PSAP
4 krabbe disease 9.6 ARSA PSAP
5 sphingolipidosis 9.5 ARSA PSAP
6 tay-sachs disease 9.5 ARSA PSAP
7 metachromatic leukodystrophy 9.4 ARSA PSAP
8 lipid storage disease 9.3 ARSA PSAP
9 gaucher's disease 9.2 ARSA PSAP
10 leukodystrophy 9.0 ARSA PSAP

Graphical network of the top 20 diseases related to Metachromatic Leukodystrophy, Juvenile Form:



Diseases related to Metachromatic Leukodystrophy, Juvenile Form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Juvenile Form

Human phenotypes related to Metachromatic Leukodystrophy, Juvenile Form:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
2 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
3 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
4 increased csf protein 59 32 frequent (33%) Frequent (79-30%) HP:0002922
5 abnormality of glycosphingolipid metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0004343
6 abnormal social behavior 59 32 frequent (33%) Frequent (79-30%) HP:0012433
7 punctate periventricular t2 hyperintense foci 59 32 frequent (33%) Frequent (79-30%) HP:0030081
8 abnormality of visual evoked potentials 59 32 occasional (7.5%) Occasional (29-5%) HP:0000649
9 emotional lability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000712
10 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
11 delusions 59 32 occasional (7.5%) Occasional (29-5%) HP:0000746
12 cholecystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001082
13 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
14 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
15 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
16 loss of speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002371
17 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
18 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
19 abnormality of proteoglycan metabolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0004355
20 progressive peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007133
21 progressive gait ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007240
22 progressive psychomotor deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0007272
23 reduced visual acuity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007663
24 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
25 decerebrate rigidity 59 32 very rare (1%) Very rare (<4-1%) HP:0025013
26 vegetative state 59 32 very rare (1%) Very rare (<4-1%) HP:0031358
27 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
28 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
29 short attention span 59 32 frequent (33%) Frequent (79-30%) HP:0000736
30 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
31 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
32 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
33 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
34 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
35 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
36 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
37 emg: chronic denervation signs 59 Occasional (29-5%)
38 emg 32 occasional (7.5%) HP:0003444

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Juvenile Form:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ARSA PSAP

Drugs & Therapeutics for Metachromatic Leukodystrophy, Juvenile Form

Search Clinical Trials , NIH Clinical Center for Metachromatic Leukodystrophy, Juvenile Form

Genetic Tests for Metachromatic Leukodystrophy, Juvenile Form

Anatomical Context for Metachromatic Leukodystrophy, Juvenile Form

MalaCards organs/tissues related to Metachromatic Leukodystrophy, Juvenile Form:

41
Eye

Publications for Metachromatic Leukodystrophy, Juvenile Form

Variations for Metachromatic Leukodystrophy, Juvenile Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Juvenile Form:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh37 Chromosome 22, 51065593: 51065593
2 ARSA NM_000487.5(ARSA): c.465+1G> A single nucleotide variant Pathogenic rs80338815 GRCh38 Chromosome 22, 50627165: 50627165
3 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh37 Chromosome 22, 51063820: 51063820
4 ARSA NM_000487.5(ARSA): c.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh38 Chromosome 22, 50625392: 50625392
5 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh37 Chromosome 22, 51065404: 51065404
6 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh38 Chromosome 22, 50626976: 50626976
7 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh37 Chromosome 22, 51064006: 51064006
8 ARSA NM_000487.5(ARSA): c.1210+1G> A single nucleotide variant Pathogenic rs80338820 GRCh38 Chromosome 22, 50625578: 50625578
9 ARSA NM_000487.5(ARSA): c.1279C> A (p.Pro427Thr) single nucleotide variant Pathogenic rs74315485 GRCh37 Chromosome 22, 51063824: 51063824
10 ARSA NM_000487.5(ARSA): c.1279C> A (p.Pro427Thr) single nucleotide variant Pathogenic rs74315485 GRCh38 Chromosome 22, 50625396: 50625396

Expression for Metachromatic Leukodystrophy, Juvenile Form

Search GEO for disease gene expression data for Metachromatic Leukodystrophy, Juvenile Form.

Pathways for Metachromatic Leukodystrophy, Juvenile Form

Pathways related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 ARSA PSAP
2 10.71 ARSA PSAP

GO Terms for Metachromatic Leukodystrophy, Juvenile Form

Cellular components related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 ARSA PSAP
2 lysosomal lumen GO:0043202 8.62 ARSA PSAP

Biological processes related to Metachromatic Leukodystrophy, Juvenile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.96 ARSA PSAP
2 glycosphingolipid metabolic process GO:0006687 8.62 ARSA PSAP

Sources for Metachromatic Leukodystrophy, Juvenile Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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44 MeSH
45 MESH via Orphanet
46 MGI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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