SGSH Chromosome 17
N-sulfoglucosamine sulfohydrolase
Upload your DNA to see your personal genotypes for variants in SGSH.
What This Gene Does
This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
Gene Info
Gene Group
Sulfatases
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000181523
Associated Conditions (13)
Mucopolysaccharidosis
MPS-III-A
Sanfilippo syndrome
Inborn genetic diseases
Neurodegeneration
SGSH-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
Abnormal circulating carbohydrate concentration
See cases
7 conditions
Cone-rod dystrophy
Abnormality of metabolism/homeostasis
Key Variants
RS104894635
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Sanfilippo syndrome
Health Risk
RS104894637
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Sanfilippo syndrome
Health Risk
RS1057521146
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
RS1064794815
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
RS111761143
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
RS1131691434
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
RS113679696
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
RS115750405
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
RS1294240905
Conflicting classifications of pathogenicity
Inborn genetic diseases, Mucopolysaccharidosis, MPS-III-A
Health Risk
RS1329133410
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Intellectual disability
Health Risk
RS1347877363
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
RS1385318543
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis
Health Risk
All Variants (225)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567924625 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS1598749661 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS2041615714 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS2041772144 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS2041818115 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS2144689256 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS2144749648 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS2510930697 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS34520362 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS372911015 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS529855742 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS746037899 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, SGSH-related disorder |
| RS746776254 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS748525651 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS753666460 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS755951235 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS760281672 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS761216892 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS763063355 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS766840480 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS774010006 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS775136193 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS777267343 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS779703983 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |
| RS886041370 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-III-A, Mucopolysaccharidosis |