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ALPI

Synonyms
IAP
External resources
Summary
There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut.

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
40
Likely pathogenic
0
VUS
3,636
Likely benign
363
Benign
0

Patient phenotypes

Proportions of phenotypes among 35 patients carring pathogenic or likely pathogenic variants on ALPI gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.4%
Abnormality of the eye
28.6%
Abnormality of the ear
22.9%
Abnormality of the musculoskeletal system
14.3%
Abnormality of the cardiovascular system
11.4%
Growth abnormality
11.4%
Abnormality of head or neck
8.6%
Abnormality of prenatal development or birth
8.6%
Abnormality of the genitourinary system
8.6%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of limbs
2.9%
Abnormality of the digestive system
2.9%
Abnormality of the immune system
2.9%
Abnormality of the integument
2.9%
Abnormality of the respiratory system
2.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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