Fructose intolerance, hereditary

Preferred Label : Fructose intolerance, hereditary;

Symbol : HFI;

CISMeF acronym : HFI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aldob deficiency; FRUCTOSEMIA; Fructose-1-phosphate aldolase deficiency; Aldolase b deficiency; Fructose-1,6-bisphosphate aldolase b deficiency;

Description : Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aldolase B, fructose-bisphosphate gene (ALDOB, 612724.0001);

Laboratory abnormalities : Hypoglycemia; Fructosemia; Hyperuricemia; Hypophosphatemia; Abnormal liver function tests; Fructose-1,6-bisphosphate aldolase B deficiency;

Prefixed ID : #229600;

Details

Origin ID

229600;

UMLS CUI

C0016751;

Automatic exact mappings (from CISMeF team)
- Fructosemia [PASCAL descriptor]
- fructosemia [SNOMED Notion]
Currated CISMeF NLP mapping
- Fructose intolerance [PASCAL descriptor]
- Fructose intolerance [MedDRA Preferred Term]
- Fructose intolerance [HPO term]
- Fructose intolerance hereditary [MedDRA LLT]
- Fructose-1,6-bisphosphate aldolase B deficiency (disorder) [SNOMED CT concept]
- Hereditary Fructose Intolerance [NCIt concept]
- Hereditary fructose intolerance [ICD-9 code]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- Hereditary fructose intolerance [ORDO Disease]
- fructose intolerance [Disease (Nov.)]
- fructose intolerance [MeSH Descriptor]
- fructose intolerance [MeSH concept]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]
DO Cross reference
- hereditary fructose intolerance syndrome [DO Concept]
Genes related to phenotype
- Aldolase b, fructose-bisphosphate [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Abnormal liver function tests [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicarbonaturia [HPO term]
- Cirrhosis [HPO term]
- Coma [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Fructose intolerance [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Glycosuria [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperbilirubinemia [HPO term]
- Hyperphosphaturia [HPO term]
- Hyperuricemia [HPO term]
- Hyperuricosuria [HPO term]
- Hypoglycemia [HPO term]
- Hypophosphatemia [HPO term]
- Intellectual disability [HPO term]
- Jaundice [HPO term]
- Lactic acidosis [HPO term]
- Lethargy [HPO term]
- Malnutrition [HPO term]
- Metabolic acidosis [HPO term]
- Nausea [HPO term]
- Proximal renal tubular acidosis [HPO term]
- Proximal tubulopathy [HPO term]
- Seizure [HPO term]
- Transient aminoaciduria [HPO term]
- Vomiting [HPO term]
Not associated HPO term(s)
- Carious teeth [HPO term]
ORDO concept(s)
- Hereditary fructose intolerance [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fructose intolerance [MedDRA Preferred Term]
- Fructose intolerance [HPO term]
- Fructose intolerance [PASCAL descriptor]
- Fructose intolerance hereditary [MedDRA LLT]
- Fructose-1,6-bisphosphate aldolase B deficiency (disorder) [SNOMED CT concept]
- Hereditary Fructose Intolerance [NCIt concept]
- Hereditary fructose intolerance [MedDRA Preferred Term]
- Hereditary fructose intolerance [ICD-9 code]
- Hereditary fructose intolerance [ORDO Disease]
- Hereditary fructose intolerance [ICD-11 Sub-sub category]
- fructose intolerance [MeSH Descriptor]
- fructose intolerance [MeSH concept]
- fructose intolerance [Disease (Nov.)]
- fructosemia [SNOMED Notion]
- hereditary fructose intolerance syndrome [DO Concept]
- hereditary fructosuria [SNOMED Notion]

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