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HYAL1

Synonyms
HYAL-1, LUCA1, MPS9, NAT6
External resources
Summary
This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene.

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
5
Likely pathogenic
0
VUS
1,816
Likely benign
638
Benign
462

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on HYAL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
60%
Abnormality of the nervous system
60%
Abnormality of the digestive system
40%
Abnormality of the integument
40%
Abnormality of blood and blood-forming tissues
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the respiratory system
20%
Growth abnormality
20%
Neoplasm
20%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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