HGSNAT Chromosome 8
Heparan-alpha-glucosaminide N-acetyltransferase
Upload your DNA to see your personal genotypes for variants in HGSNAT.
What This Gene Does
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
Associated Conditions (15)
Mucopolysaccharidosis
MPS-III-C
Retinal dystrophy
Retinitis pigmentosa 73
Sanfilippo syndrome
Retinitis pigmentosa
HGSNAT-related disorder
Retinal disorder
Inborn genetic diseases
Intellectual disability
Thyroid cancer
nonmedullary
1
Synovial plica syndrome
Acute myeloid leukemia
Key Variants
RS1064795522
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinal dystrophy
Health Risk
RS112029032
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS1174944521
Conflicting classifications of pathogenicity
Retinal dystrophy, Mucopolysaccharidosis, MPS-III-C
Health Risk
RS121908284
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS121908285
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS1355715592
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS1401818080
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 73, Mucopolysaccharidosis
Health Risk
RS146429523
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS184883937
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS192857413
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS200238482
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73
Health Risk
RS200750044
Conflicting classifications of pathogenicity
Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C
Health Risk
All Variants (177)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS797045120 | Health Risk | Pathogenic | Retinitis pigmentosa 73, Retinitis pigmentosa 73 |
| RS121908282 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinal dystrophy |
| RS1366558211 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1554531744 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Mucopolysaccharidosis |
| RS1554533211 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Sanfilippo syndrome |
| RS1554537586 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS1586698317 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS1803166332 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS1803181154 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS1803878901 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS1804147747 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS1804565177 | Health Risk | Pathogenic/Likely pathogenic | Sanfilippo syndrome, Retinitis pigmentosa 73, Mucopolysaccharidosis |
| RS1804568176 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS1804769861 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 73, Retinitis pigmentosa 73, Mucopolysaccharidosis |
| RS2130648385 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS2486908416 | Health Risk | Pathogenic/Likely pathogenic | HGSNAT-related disorder, Retinitis pigmentosa 73, Mucopolysaccharidosis |
| RS2486918870 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C |
| RS2486918970 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C |
| RS2486963476 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS398124544 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinal dystrophy |
| RS398124545 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS748387885 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS756310864 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS756420301 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS766835582 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |
| RS777146364 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 73, Mucopolysaccharidosis, MPS-III-C |
| RS954238515 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-C, Retinitis pigmentosa 73 |