MCID: MTC074
MIFTS: 28

Metachromatic Leukodystrophy, Adult Form

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

Aliases & Classifications for Metachromatic Leukodystrophy, Adult Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Adult Form:

Name: Metachromatic Leukodystrophy, Adult Form 60
Arylsulfatase a Deficiency, Adult Form 60
Mld, Adult Form 60

Characteristics:

Orphanet epidemiological data:

60
metachromatic leukodystrophy, adult form
Age of onset: Adult; Age of death: adult,elderly;

Classifications:



Summaries for Metachromatic Leukodystrophy, Adult Form

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

Related Diseases for Metachromatic Leukodystrophy, Adult 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, Adult Form via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 9.8 ARSA PSAP
2 metachromatic leukodystrophy, late infantile form 9.8 ARSA PSAP
3 leukodystrophy 9.8 ARSA PSAP
4 metachromatic leukodystrophy, juvenile form 9.8 ARSA PSAP
5 inclusion-cell disease 9.8 ARSA PSAP
6 krabbe disease 9.7 ARSA PSAP
7 sphingolipidosis 9.7 ARSA PSAP
8 tay-sachs disease 9.7 ARSA PSAP
9 lipid storage disease 9.6 ARSA PSAP
10 gaucher's disease 9.5 ARSA PSAP

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



Diseases related to Metachromatic Leukodystrophy, Adult Form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Adult Form

Human phenotypes related to Metachromatic Leukodystrophy, Adult Form:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 60 33 frequent (33%) Frequent (79-30%) HP:0000712
2 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
3 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
4 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
5 hallucinations 60 33 frequent (33%) Frequent (79-30%) HP:0000738
6 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
7 decreased nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0000762
8 abnormality of glycosphingolipid metabolism 60 33 frequent (33%) Frequent (79-30%) HP:0004343
9 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
10 memory impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002354
11 dementia 60 33 frequent (33%) Frequent (79-30%) HP:0000726
12 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
13 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
14 abnormal social behavior 60 33 frequent (33%) Frequent (79-30%) HP:0012433
15 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
16 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
17 frequent falls 60 33 frequent (33%) Frequent (79-30%) HP:0002359
18 leukodystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002415
19 increased csf protein 60 33 frequent (33%) Frequent (79-30%) HP:0002922
20 delusions 60 33 frequent (33%) Frequent (79-30%) HP:0000746
21 short attention span 60 33 frequent (33%) Frequent (79-30%) HP:0000736
22 punctate periventricular t2 hyperintense foci 60 33 frequent (33%) Frequent (79-30%) HP:0030081
23 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
24 chorea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002072
25 bowel incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0002607
26 abnormality of visual evoked potentials 60 33 occasional (7.5%) Occasional (29-5%) HP:0000649
27 progressive psychomotor deterioration 60 33 occasional (7.5%) Occasional (29-5%) HP:0007272
28 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
29 intention tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0002080
30 reduced visual acuity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007663
31 bulbar signs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002483
32 schizophrenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100753
33 progressive gait ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007240
34 cholecystitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001082
35 abdominal distention 60 33 occasional (7.5%) Occasional (29-5%) HP:0003270
36 urinary incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0000020
37 progressive peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007133
38 progressive spastic quadriplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002478
39 loss of speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0002371
40 bilateral sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0008619
41 emg: chronic denervation signs 60 33 occasional (7.5%) Occasional (29-5%) HP:0003444
42 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
43 vegetative state 60 33 very rare (1%) Very rare (<4-1%) HP:0031358
44 orthostatic hypotension due to autonomic dysfunction 60 33 very rare (1%) Very rare (<4-1%) HP:0004926
45 neoplasm of the gallbladder 60 33 very rare (1%) Very rare (<4-1%) HP:0100575
46 decerebrate rigidity 60 33 very rare (1%) Very rare (<4-1%) HP:0025013
47 spasticity 60 Occasional (29-5%)
48 abnormality of proteoglycan metabolism 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Adult Form:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ARSA PSAP

Drugs & Therapeutics for Metachromatic Leukodystrophy, Adult Form

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

Genetic Tests for Metachromatic Leukodystrophy, Adult Form

Anatomical Context for Metachromatic Leukodystrophy, Adult Form

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

42
Eye

Publications for Metachromatic Leukodystrophy, Adult Form

Variations for Metachromatic Leukodystrophy, Adult Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Adult Form:

6 (show all 14)
# 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.302G> A (p.Gly101Asp) single nucleotide variant Pathogenic/Likely pathogenic rs74315455 GRCh37 Chromosome 22, 51065757: 51065757
6 ARSA NM_000487.5(ARSA): c.302G> A (p.Gly101Asp) single nucleotide variant Pathogenic/Likely pathogenic rs74315455 GRCh38 Chromosome 22, 50627329: 50627329
7 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh37 Chromosome 22, 51065404: 51065404
8 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic/Likely pathogenic rs74315457 GRCh38 Chromosome 22, 50626976: 50626976
9 ARSA NM_000487.5(ARSA): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs121434215 GRCh37 Chromosome 22, 51065649: 51065649
10 ARSA NM_000487.5(ARSA): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs121434215 GRCh38 Chromosome 22, 50627221: 50627221
11 ARSA NM_000487.5(ARSA): c.862A> C (p.Thr288Pro) single nucleotide variant Pathogenic rs28940894 GRCh37 Chromosome 22, 51064699: 51064699
12 ARSA NM_000487.5(ARSA): c.862A> C (p.Thr288Pro) single nucleotide variant Pathogenic rs28940894 GRCh38 Chromosome 22, 50626271: 50626271
13 ARSA NM_000487.5(ARSA): c.1229C> T (p.Thr410Ile) single nucleotide variant Pathogenic rs28940895 GRCh37 Chromosome 22, 51063874: 51063874
14 ARSA NM_000487.5(ARSA): c.1229C> T (p.Thr410Ile) single nucleotide variant Pathogenic rs28940895 GRCh38 Chromosome 22, 50625446: 50625446

Expression for Metachromatic Leukodystrophy, Adult Form

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

Pathways for Metachromatic Leukodystrophy, Adult Form

Pathways related to Metachromatic Leukodystrophy, Adult 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, Adult Form

Cellular components related to Metachromatic Leukodystrophy, Adult 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, Adult 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, Adult Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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