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HTRA1

Synonyms
ARMD7, CADASIL2, CARASIL, HtrA, L56, ORF480, PRSS11
External resources
Summary
This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
753
Likely pathogenic
29
VUS
4,196
Likely benign
498
Benign
0

Patient Phenotypes

Proportions of phenotypes among 395 patients carrying pathogenic or likely pathogenic variants on HTRA1 gene are displayed below. The following symptoms were found in patients with a variant in HTRA1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.1%
Abnormality of the musculoskeletal system
29.9%
Abnormality of head or neck
24.8%
Abnormality of the cardiovascular system
21.3%
Abnormality of the eye
20.3%
Growth abnormality
16.2%
Abnormality of the ear
14.7%
Abnormality of the integument
11.1%
Abnormality of metabolism homeostasis
9.6%
Abnormality of limbs
9.4%
Abnormality of the genitourinary system
8.6%
Abnormality of the digestive system
7.8%
Abnormality of blood and blood forming tissues
5.3%
Abnormality of the immune system
5.3%
Abnormality of the endocrine system
5.1%
Abnormality of prenatal development or birth
4.6%
Abnormality of the respiratory system
3.5%
Neoplasm
1.3%
Constitutional symptom
0.8%
Abnormality of the breast
0.5%
Abnormality of the voice
0.5%
Abnormal cellular phenotype
0.3%
Abnormality of the thoracic cavity
0%

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