Fructose-1,6-bisphosphatase deficiency

Preferred Label : Fructose-1,6-bisphosphatase deficiency;

Symbol : FBP1D;

CISMeF acronym : FBP1D;

Type : Phenotype, molecular basis known;

Description : Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis (Kikawa et al., 1997; Matsuura et al., 2002).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fructose-1,6-bisphosphatase gene (FBP1, 611570.0001);

Laboratory abnormalities : Increased urinary glycerol; Decreased FBP1 enzyme activity;

Prefixed ID : #229700;

Détails

Origin ID

229700;

UMLS CUI

C0016756;

Automatic exact mappings (from CISMeF team)
- Fructose-1,6-bisphosphatase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Fructose-1,6-Bisphosphatase Deficiency [NCIt concept]
- Fructose-1,6-Diphosphatase deficiency [MeSH concept]
- Fructose-1,6-bisphosphatase deficiency [ORDO Disease]
- Fructose-1,6-diphosphatase deficiency [ICD-11 More detail]
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructose-1,6-diphosphatase deficiency [MeSH Descriptor]
- fructose-biphosphatase deficiency [SNOMED Notion]
- fructose-bisphosphatase 1 [ORDO Gene]
DO Cross reference
- fructose-1,6-bisphosphatase deficiency [DO Concept]
Genes related to phenotype
- Fructose-1,6-bisphosphatase 1 [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Dyspnea [HPO term]
- Fever [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hyperventilation [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Increased urinary glycerol [HPO term]
- Irritability [HPO term]
- Ketosis [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Seizure [HPO term]
- Tachycardia [HPO term]
ORDO concept(s)
- Fructose-1,6-bisphosphatase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fructose-1,6-Bisphosphatase Deficiency [NCIt concept]
- Fructose-1,6-Diphosphatase deficiency [MeSH concept]
- Fructose-1,6-bisphosphatase deficiency [ORDO Disease]
- Fructose-1,6-bisphosphatase deficiency [MedDRA Preferred Term]
- Fructose-1,6-diphosphatase deficiency [ICD-11 More detail]
- Fructose-biphosphatase deficiency (disorder) [SNOMED CT concept]
- fructose-1,6-bisphosphatase deficiency [DO Concept]
- fructose-1,6-diphosphatase deficiency [MeSH Descriptor]
- fructose-biphosphatase deficiency [SNOMED Notion]
- fructose-bisphosphatase 1 [ORDO Gene]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients