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FBP1

Synonyms
FBP
External resources
Summary
Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis.

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
10
Likely pathogenic
12
VUS
13,299
Likely benign
1,639
Benign
221

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on FBP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
54.5%
Abnormality of head or neck
31.8%
Abnormality of the integument
18.2%
Abnormality of the musculoskeletal system
18.2%
Growth abnormality
18.2%
Abnormality of the cardiovascular system
13.6%
Abnormality of the endocrine system
13.6%
Abnormality of the eye
13.6%
Abnormality of the digestive system
4.5%
Abnormality of the ear
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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