Multiple Sulfatase Deficiency(Juvenile sulfatidosis, Austin type) Explore Disorder's Alias
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 | SUMF1/285362 | sulfatase modifying factor 1 | 3p26.1 | Chr3, NC_000003.12 (4034486..4467269, complement) |
432784 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SUMF2/25870 | sulfatase modifying factor 2 | 3p26;7p11.2 | Chr7, NC_000007.14 (56064286..56087946) |
23661 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |