Metachromatic Leukodystrophy(Arylsulfatase A deficiency)
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ARSA/410 | arylsulfatase A | 22q13.33 | Chr22, NC_000022.11 (50622754..50628152, complement) |
5399 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PSAP/5660 | prosaposin | 10q22.1 | Chr10, NC_000010.11 (71816298..71851251, complement) |
34954 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ARSB/411 | arylsulfatase B | 5q14.1 | Chr5, NC_000005.10 (78777209..78985958, complement) |
208750 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |