Home > Gene Browser > FBP1
FBP1
- Synonyms
- FBP
- External resources
- NCBI2203
- OMIM611570
- EnsemblENSG00000165140
- HGNCHGNC:3606
- 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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