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HGD

Synonyms
AKU, HGO
External resources
Summary
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.

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
13
Likely pathogenic
10
VUS
3,236
Likely benign
7,145
Benign
0

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on HGD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
47.8%
Abnormality of the nervous system
43.5%
Abnormality of limbs
26.1%
Abnormality of the eye
26.1%
Growth abnormality
17.4%
Abnormality of the genitourinary system
13%
Abnormality of the integument
13%
Abnormality of head or neck
8.7%
Abnormality of prenatal development or birth
4.3%
Abnormality of the cardiovascular system
4.3%
Abnormality of the immune system
4.3%
Abnormality of the voice
4.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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