Mucopolysaccharidosis, MPS-III-A(Heparan sulfate sulfatase 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 | SGSH/6448 | N-sulfoglucosamine sulfohydrolase | 17q25.3 | Chr17, NC_000017.11 (80200673..80220333, complement) |
19661 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GNPTAB/79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 12q23.2 | Chr12, NC_000012.12 (101745499..101830959, complement) |
85461 nt | 23 | 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