MCID: MTC074
MIFTS: 28

Metachromatic Leukodystrophy, Adult Form

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

Aliases & Classifications for Metachromatic Leukodystrophy, Adult Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Adult Form:

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

Characteristics:

Orphanet epidemiological data:

59
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 optic atrophy and emotional lability

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 29.1 ARSA PSAP
2 metachromatic leukodystrophy, late infantile form 9.6 ARSA PSAP
3 metachromatic leukodystrophy, juvenile form 9.6 ARSA PSAP
4 inclusion-cell disease 9.6 ARSA PSAP
5 krabbe disease 9.6 ARSA PSAP
6 sphingolipidosis 9.5 ARSA PSAP
7 tay-sachs disease 9.5 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, Adult Form:



Diseases related to Metachromatic Leukodystrophy, Adult Form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Adult Form

Human phenotypes related to Metachromatic Leukodystrophy, Adult Form:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
2 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
3 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
4 short attention span 59 32 frequent (33%) Frequent (79-30%) HP:0000736
5 hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0000738
6 delusions 59 32 frequent (33%) Frequent (79-30%) HP:0000746
7 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
8 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
9 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
10 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
11 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
12 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
13 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
14 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
15 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
16 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
17 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
18 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
19 increased csf protein 59 32 frequent (33%) Frequent (79-30%) HP:0002922
20 abnormality of glycosphingolipid metabolism 59 32 frequent (33%) Frequent (79-30%) HP:0004343
21 abnormal social behavior 59 32 frequent (33%) Frequent (79-30%) HP:0012433
22 punctate periventricular t2 hyperintense foci 59 32 frequent (33%) Frequent (79-30%) HP:0030081
23 urinary incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0000020
24 abnormality of visual evoked potentials 59 32 occasional (7.5%) Occasional (29-5%) HP:0000649
25 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
26 cholecystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001082
27 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
28 intention tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002080
29 loss of speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002371
30 progressive spastic quadriplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002478
31 bulbar signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002483
32 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
33 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
34 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
35 abnormality of proteoglycan metabolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0004355
36 progressive peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007133
37 progressive gait ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007240
38 progressive psychomotor deterioration 59 32 occasional (7.5%) Occasional (29-5%) HP:0007272
39 reduced visual acuity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007663
40 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
41 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
42 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
43 orthostatic hypotension due to autonomic dysfunction 59 32 very rare (1%) Very rare (<4-1%) HP:0004926
44 decerebrate rigidity 59 32 very rare (1%) Very rare (<4-1%) HP:0025013
45 vegetative state 59 32 very rare (1%) Very rare (<4-1%) HP:0031358
46 neoplasm of the gallbladder 59 32 very rare (1%) Very rare (<4-1%) HP:0100575
47 spasticity 59 Occasional (29-5%)
48 emg: chronic denervation signs 59 Occasional (29-5%)
49 emg 32 occasional (7.5%) HP:0003444

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Adult 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, 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:

41
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 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
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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