MCID: MTC074
MIFTS: 23

Metachromatic Leukodystrophy, Adult Form

Categories: Eye diseases, Genetic 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 58
Arylsulfatase a Deficiency, Adult Form 58
Mld, Adult Form 58

Characteristics:

Orphanet epidemiological data:

58
metachromatic leukodystrophy, adult form
Age of onset: Adult; Age of death: adult,elderly;

Classifications:

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


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

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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
4 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
5 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
6 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
7 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
8 abnormal social behavior 58 31 frequent (33%) Frequent (79-30%) HP:0012433
9 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
10 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
11 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
12 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
13 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
14 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
15 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
16 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
17 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
18 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
19 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
20 punctate periventricular t2 hyperintense foci 58 31 frequent (33%) Frequent (79-30%) HP:0030081
21 delusions 58 31 frequent (33%) Frequent (79-30%) HP:0000746
22 abnormal glycosphingolipid metabolism 31 frequent (33%) HP:0004343
23 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
24 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
25 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
26 abnormality of visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0000649
27 progressive psychomotor deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0007272
28 bulbar signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002483
29 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
30 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
31 cholecystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001082
32 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
33 progressive spastic quadriplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002478
34 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
35 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
36 progressive gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007240
37 loss of speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002371
38 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
39 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
40 emg: chronic denervation signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003444
41 progressive peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007133
42 decerebrate rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0025013
43 orthostatic hypotension due to autonomic dysfunction 58 31 very rare (1%) Very rare (<4-1%) HP:0004926
44 neoplasm of the gallbladder 58 31 very rare (1%) Very rare (<4-1%) HP:0100575
45 vegetative state 58 31 very rare (1%) Very rare (<4-1%) HP:0031358
46 seizure 31 very rare (1%) HP:0001250
47 seizures 58 Very rare (<4-1%)
48 spasticity 58 Occasional (29-5%)
49 abnormality of glycosphingolipid metabolism 58 Frequent (79-30%)
50 abnormality of proteoglycan metabolism 58 Occasional (29-5%)

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:

40
Eye

Publications for Metachromatic Leukodystrophy, Adult Form

Variations for Metachromatic Leukodystrophy, Adult Form

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 PSAP ARSA
2 10.73 PSAP ARSA

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 PSAP ARSA
2 lysosomal lumen GO:0043202 8.62 PSAP ARSA

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

Sources for Metachromatic Leukodystrophy, Adult 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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