MCID: MTC076
MIFTS: 29

Metachromatic Leukodystrophy, Juvenile Form

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

Aliases & Classifications for Metachromatic Leukodystrophy, Juvenile Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Juvenile Form:

Name: Metachromatic Leukodystrophy, Juvenile Form 58 6
Arylsulfatase a Deficiency, Juvenile Form 58
Mld, Juvenile Form 58

Characteristics:

Orphanet epidemiological data:

58
metachromatic leukodystrophy, juvenile form
Age of onset: Adolescent,Childhood; Age of death: adolescent,late childhood,young Adult;

Classifications:

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


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 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 dysarthria and muscle weakness

Related Diseases for Metachromatic Leukodystrophy, Juvenile Form

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:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
3 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
4 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
5 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
6 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
9 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
10 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
11 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
12 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
13 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
14 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
15 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
16 punctate periventricular t2 hyperintense foci 58 31 frequent (33%) Frequent (79-30%) HP:0030081
17 abnormal glycosphingolipid metabolism 31 frequent (33%) HP:0004343
18 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
19 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
20 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
21 abnormality of visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0000649
22 progressive psychomotor deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0007272
23 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
24 cholecystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001082
25 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
26 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
27 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
28 progressive gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007240
29 loss of speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002371
30 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
31 emg: chronic denervation signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003444
32 progressive peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007133
33 delusions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000746
34 seizure 31 occasional (7.5%) HP:0001250
35 decerebrate rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0025013
36 vegetative state 58 31 very rare (1%) Very rare (<4-1%) HP:0031358
37 seizures 58 Occasional (29-5%)
38 abnormality of glycosphingolipid metabolism 58 Frequent (79-30%)
39 abnormality of proteoglycan metabolism 58 Occasional (29-5%)

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:

40
Eye

Publications for Metachromatic Leukodystrophy, Juvenile Form

Articles related to Metachromatic Leukodystrophy, Juvenile Form:

(show all 12)
# Title Authors PMID Year
1
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. 6
12788103 2003
2
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations. 6
12503099 2003
3
High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy. 6
12081727 2002
4
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. 6
11456299 2001
5
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online. 6
10220151 1999
6
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. 6
9600244 1998
7
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. 6
9090526 1997
8
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. 6
7825603 1995
9
Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. 6
8095918 1993
10
Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. 6
1684088 1991
11
Molecular basis of different forms of metachromatic leukodystrophy. 6
1670590 1991
12
An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. 6
1671769 1991

Variations for Metachromatic Leukodystrophy, Juvenile Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Juvenile Form:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARSA NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr) SNV Pathogenic 3094 rs74315485 GRCh37: 22:51063824-51063824
GRCh38: 22:50625396-50625396
2 ARSA NM_000487.6(ARSA):c.1210+1G>A SNV Pathogenic 3058 rs80338820 GRCh37: 22:51064006-51064006
GRCh38: 22:50625578-50625578
3 ARSA NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) SNV Pathogenic 3057 rs74315457 GRCh37: 22:51065404-51065404
GRCh38: 22:50626976-50626976
4 ARSA NM_000487.6(ARSA):c.465+1G>A SNV Pathogenic 3051 rs80338815 GRCh37: 22:51065593-51065593
GRCh38: 22:50627165-50627165
5 ARSA NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) SNV Pathogenic 3052 rs28940893 GRCh37: 22:51063820-51063820
GRCh38: 22:50625392-50625392

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 PSAP ARSA
2 10.73 PSAP ARSA

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 PSAP ARSA
2 lysosomal lumen GO:0043202 8.62 PSAP ARSA

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 PSAP ARSA
2 glycosphingolipid metabolic process GO:0006687 8.62 PSAP ARSA

Sources for Metachromatic Leukodystrophy, Juvenile Form

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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