MCID: MTC074
MIFTS: 23

Metachromatic Leukodystrophy, Adult Form malady

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

Aliases & Classifications for Metachromatic Leukodystrophy, Adult Form

Aliases & Descriptions for Metachromatic Leukodystrophy, Adult Form:

Name: Metachromatic Leukodystrophy, Adult Form 56
Arylsulfatase a Deficiency, Adult Form 56
Mld, Adult Form 56

Characteristics:

Orphanet epidemiological data:

56
metachromatic leukodystrophy, adult form
Age of onset: Adult; Age of death: adult,elderly;

Classifications:



External Ids:

Orphanet 56 ORPHA309271
UMLS via Orphanet 70 C0751279
ICD10 via Orphanet 34 E75.2

Summaries for Metachromatic Leukodystrophy, Adult Form

MalaCards based summary : Metachromatic Leukodystrophy, Adult Form, also known as arylsulfatase a deficiency, adult form, is related to diffuse large b-cell lymphoma of the central nervous system and follicular cholangitis and pancreatitis. An important gene associated with Metachromatic Leukodystrophy, Adult Form is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is hearing/vestibular/ear.

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

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Adult Form:

44
id 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

Drugs for Metachromatic Leukodystrophy, Adult Form (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
3
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5 Prednisolone acetate Phase 2, Phase 3
6 Alkylating Agents Phase 2, Phase 3
7 Prednisolone hemisuccinate Phase 2, Phase 3
8 Prednisolone phosphate Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Antilymphocyte Serum Phase 2, Phase 3
11 Methylprednisolone acetate Phase 2, Phase 3
12 Methylprednisolone Hemisuccinate Phase 2, Phase 3
13 Antirheumatic Agents Phase 2, Phase 3
14 Antineoplastic Agents, Alkylating Phase 2, Phase 3
15
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
16
Melphalan Approved Phase 2 148-82-3 4053 460612
17
Hydroxyurea Approved Phase 2 127-07-1 3657
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
alemtuzumab Approved, Investigational Phase 2 216503-57-0
20
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
21
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
22
Mycophenolic acid Approved Phase 2 24280-93-1 446541
23
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
24
Mesna Approved Phase 2 3375-50-6 598
25 tannic acid Approved, Nutraceutical Phase 2
26 Nucleic Acid Synthesis Inhibitors Phase 2
27 Dermatologic Agents Phase 2
28 Anti-Infective Agents Phase 2
29 Antifungal Agents Phase 2
30 Antimetabolites Phase 2
31 Antimetabolites, Antineoplastic Phase 2
32 Calcineurin Inhibitors Phase 2
33 Anti-Bacterial Agents Phase 2
34 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
2 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
3 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2

Search 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:

39
Eye

Publications for Metachromatic Leukodystrophy, Adult Form

Variations for Metachromatic Leukodystrophy, Adult Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Adult Form:

6
id 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.1283C> T (p.Pro428Leu) single nucleotide variant Pathogenic rs28940893 GRCh37 Chromosome 22, 51063820: 51063820
3 ARSA NM_000487.5(ARSA): c.542T> G (p.Ile181Ser) single nucleotide variant Pathogenic rs74315457 GRCh37 Chromosome 22, 51065404: 51065404
4 ARSA NM_000487.5(ARSA): c.410T> C (p.Leu137Pro) single nucleotide variant Pathogenic rs121434215 GRCh37 Chromosome 22, 51065649: 51065649
5 ARSA NM_000487.5(ARSA): c.862A> C (p.Thr288Pro) single nucleotide variant Pathogenic rs28940894 GRCh37 Chromosome 22, 51064699: 51064699
6 ARSA NM_000487.5(ARSA): c.1229C> T (p.Thr410Ile) single nucleotide variant Pathogenic rs28940895 GRCh37 Chromosome 22, 51063874: 51063874

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:

id 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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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