eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fructose-1,6-bisphosphatase deficiency | ||||
| Disease ID | 1343 |
|---|---|
| Disease | fructose-1,6-bisphosphatase deficiency |
| Definition | An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal. |
| Synonym | deficiencies, fructose-1,6-bisphosphatase deficiencies, fructose-1,6-diphosphatase deficiencies, fructose-biphosphatase deficiencies, fructosediphosphatase deficiency, fructose-1,6-bisphosphatase deficiency, fructose-1,6-diphosphatase deficiency, fructose-biphosphatase deficiency, fructosediphosphatase fbp1d fdp defic fructose 1,6 bisphosphatase deficiency fructose 1,6 diphosphatase deficiency fructose biphosphatase defic fructose biphosphatase deficiency fructose bisphosphatase deficiency 01 06 fructose diphosphatase defic fructose diphosphatase deficiency 01 06 fructose-1,6-bisphosphatase deficiencies fructose-1,6-diphosphatase deficiencies fructose-1,6-diphosphatase deficiency fructose-1,6-diphosphatase deficiency [disease/finding] fructose-biphosphatase deficiencies fructose-biphosphatase deficiency fructose-biphosphatase deficiency (disorder) fructosediphosphatase defic fructosediphosphatase deficiencies fructosediphosphatase deficiency hereditary fructose-1,6-phosphatase deficiency |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0016756 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 229 | ALDOB | 5.936 | DISEASES 7917 | BAG6 | 1.591 | DISEASES 669 | BPGM | 3.232 | DISEASES 84909 | C9orf3 | 2.921 | DISEASES 1192 | CLIC1 | 1.114 | DISEASES 2155 | F7 | 1.694 | DISEASES 2203 | FBP1 | 4.464 | DISEASES 8789 | FBP2 | 4.29 | DISEASES 2641 | GCG | 2.147 | DISEASES 2687 | GGT5 | 2.683 | DISEASES 79706 | PRKRIP1 | 3.533 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FBP1 | 9q22.32 |
| Disease ID | 1343 |
|---|---|
| Disease | fructose-1,6-bisphosphatase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0001252 | Hypotonia HP:0002883 | Rapid breathing HP:0001250 | Seizures HP:0001942 | Metabolic acidosis HP:0002094 | Dyspnea HP:0002240 | Enlarged liver HP:0001254 | Lethargy HP:0001259 | Coma HP:0001946 | High levels of ketone bodies HP:0001943 | Hypoglycemia HP:0000737 | Irritability HP:0001945 | Fever HP:0001649 | Tachycardia HP:0002104 | Absence of spontaneous respiration |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1343 |
|---|---|
| Disease | fructose-1,6-bisphosphatase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918188 | NA | 2203 | FBP1 | umls:C0016756 | CLINVAR | NA | 0.480542884 | NA | FBP1 | 9 | 94609998 | C | T |
| rs121918189 | NA | 2203 | FBP1 | umls:C0016756 | CLINVAR | NA | 0.480542884 | NA | FBP1 | 9 | 94609958 | G | T,A |
| rs121918190 | NA | 2203 | FBP1 | umls:C0016756 | CLINVAR | NA | 0.480542884 | NA | FBP1 | 9 | 94639223 | C | A |
| rs121918191 | NA | 2203 | FBP1 | umls:C0016756 | CLINVAR | NA | 0.480542884 | NA | FBP1 | 9 | 94606939 | A | G |
| rs121918192 | NA | 2203 | FBP1 | umls:C0016756 | CLINVAR | NA | 0.480542884 | NA | FBP1 | 9 | 94603547 | G | C |
| rs757653154 | NA | 2203 | FBP1 | umls:C0016756 | CLINVAR | NA | 0.480542884 | NA | FBP1 | 9 | 94603437 | - | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001942 | Metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002104 | Apnea | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001649 | Tachycardia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001259 | Coma | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001946 | Ketosis | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002883 | Hyperventilation | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| Disease ID | 1343 |
|---|---|
| Disease | fructose-1,6-bisphosphatase deficiency |
| Case | (Waiting for update.) |