Details of Disease | DrugMAP

General Information of Disease (ID: DISWLA0D)

Disease Name	Hereditary fructose intolerance
Synonyms	aldolase B deficiency; fructose-1-phosphate aldolase deficiency; Aldob deficiency; fructose intolerance; fructose-1,6-bisphosphate aldolase B deficiency; hereditary fructose intolerance; Fructose Intolerance, Hereditary; hereditary fructose intolerance syndrome; hereditary fructosemia; Fructosaemia; fructose intolerance, hereditary; fructosemia; hereditary fructose-1-phosphate aldolase deficiency
Definition	Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.
Disease Hierarchy	DISDS4G7: Disorder of galactose and fructose metabolism DISAF3R7: Disorder of fructose metabolism DISWLA0D: Hereditary fructose intolerance
Disease Identifiers	MONDO ID MONDO_0009249 MESH ID D005633 UMLS CUI C0016751 OMIM ID 229600 MedGen ID 42105 HPO ID HP:0005973 Orphanet ID 469 SNOMED CT ID 20052008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KHK	TTPAFR9	moderate	Biomarker	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANO5	OTOW8R6H	moderate	CausalMutation	[2]
MLXIPL	OTR9MLLW	Strong	Biomarker	[3]
ALDOB	OT7FR69A	Definitive	Autosomal recessive	[4]
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References

1	Ketohexokinase C blockade ameliorates fructose-induced metabolic dysfunction in fructose-sensitive mice.J Clin Invest. 2018 Jun 1;128(6):2226-2238. doi: 10.1172/JCI94427. Epub 2018 Apr 23.
2	Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30.
3	Recent insights into the role of ChREBP in intestinal fructose absorption and metabolism.BMB Rep. 2018 Sep;51(9):429-436. doi: 10.5483/BMBRep.2018.51.9.197.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.