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SGSH

Synonyms
HSS, MPS3A, SFMD
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
6
Likely pathogenic
19
VUS
5,373
Likely benign
8,609
Benign
25

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on SGSH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
25%
Abnormality of head or neck
20.8%
Abnormality of the eye
12.5%
Abnormality of the integument
12.5%
Abnormality of prenatal development or birth
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the immune system
8.3%
Abnormality of the respiratory system
8.3%
Growth abnormality
8.3%
Neoplasm
8.3%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of the genitourinary system
4.2%
Abnormality of the musculoskeletal system
4.2%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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