Fructose-1,6-bisphosphatase deficiency
Synonyms: FBPase deficiency · Fructose-1,6-diphosphatase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fructose-1,6-bisphosphatase deficiency | FBPase deficiency · Fructose-1,6-diphosphatase deficiency |
| fr | Déficit en fructose-1,6-diphosphatase | Déficit en FBPase · Déficit en fructose-1,6-bisphosphatase |
| de | Fruktose-1,6-Bisphosphatase-Mangel | FBPase-Mangel · Fruktose-1,6-Diphosphatase-Mangel |
| es | Deficiencia de fructosa-1,6 bifosfatasa | Deficiencia de FBPasa · Deficiencia de fructosa-1,6 difosfatasa |
| it | Deficit di fruttosio 1,6-difosfatasi | |
| nl | Fructose-1,6-bisfosfatasedeficiëntie | FBPase-deficiëntie · Fructose-1,6-difosfatasedeficiëntie |
| pt | Deficiência de frutose-1,6-bisfosfatase | |
| pl | Niedobór fruktozo-1,6-difosfatazy | = en |
| cs | Deficit fruktóza-1,6-bisfosfatázy | = en |
| uk | Дефіцит фруктозо-1,6-бісфосфатази | Дефіцит FBPази · Дефіцит фруктозо-1,6-дифосфатази |
| zh | 果糖-1,6-二磷酸酶缺乏症 | 果糖-1,6-二磷酸酶缺乏 |
| tr | Fruktoz-1,6-bisfosfataz eksikliği | FBPase eksikliği · Fruktoz-1,6-difosfataz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229700 | E | validated | |
| ICD-10 | E74.1 | NTBT | attributed | validated |
| ICD-11 | 5C51.5Y | NTBT | index | validated |
| MONDO | 0009251 | E | validated | |
| MeSH | D015319 | E | validated | |
| UMLS | C0016756 | E | validated | |
| GARD | 2400 | E | validated | |
| MedDRA | 10081516 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:308463Disorder of fructose metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79177Gluconeogenesis disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3606 | ENSG00000165140 | 611570 | 9q22.32 | fructose-bisphosphatase 1 | 9382095[PMID]_12126934[PMID]_24007283[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2019-04-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001943 | Hypoglycemia | |
| HP:0003128 | Lactic acidosis | |
| HP:0001942 | Metabolic acidosis | |
| Frequent (79-30%) | ||
| HP:0002014 | Diarrhea | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0002149 | Hyperuricemia | |
| HP:0004913 | Intermittent lactic acidemia | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0005949 | Apneic episodes in infancy | |
| HP:0001259 | Coma | |
| HP:0002329 | Drowsiness | |
| HP:0002094 | Dyspnea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002876 | Episodic tachypnea | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0040301 | Increased urinary glycerol | |
| HP:0001249 | Intellectual disability | |
| HP:0004879 | Intermittent hyperventilation | |
| HP:0000737 | Irritability | |
| HP:0001946 | Ketosis | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000980 | Pallor | |
| HP:0004372 | Reduced consciousness | |
| HP:0002098 | Respiratory distress | |
| HP:0006582 | Reye syndrome-like episodes | |
| HP:0001250 | Seizure | |
| HP:0001649 | Tachycardia | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0003348 | Hyperalaninemia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25601412[PMID]_28420223[PMID]_9382095[PMID]_1995492[PMID]_2347355[PMID]_4341015[PMID]_4193749[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/348
- This record as JSON: /data/d/348.json