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	fructose intolerance

Disease ID	454
Disease	fructose intolerance
Definition	An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.
Synonym	aldb - aldolase b deficiency aldb - aldolose b deficiency aldb deficiency aldob deficiencies aldob deficiency aldolase b deficiencies aldolase b deficiency aldolase deficiencies, fructose-1,6-biphosphate aldolase deficiencies, fructose-1-phosphate aldolase deficiency, fructose-1,6-biphosphate aldolase deficiency, fructose-1-phosphate deficiencies, aldob deficiencies, aldolase b deficiencies, fructose-1,6-biphosphate aldolase deficiencies, fructose-1-phosphate aldolase deficiency, aldob deficiency, aldolase b deficiency, fructose-1,6-biphosphate aldolase deficiency, fructose-1-phosphate aldolase fructosaemia fructose 1 phosphate aldolase deficiency fructose 1,6 biphosphate aldolase deficiency fructose 1,6 bisphosphate aldolase b deficiency fructose aldolase b deficiency fructose hereditary intolerance fructose intolerance [disease/finding] fructose intolerance hereditary fructose intolerance, hereditary fructose intolerance, nos fructose intolerances fructose intolerances, hereditary fructose-1,6-biphosphate aldolase deficiencies fructose-1,6-biphosphate aldolase deficiency fructose-1,6-bisphosphate aldolase b deficiency fructose-1,6-bisphosphate aldolase b deficiency (disorder) fructose-1-phosphate aldolase deficiencies fructose-1-phosphate aldolase deficiency fructose-biphosphate aldolase b deficiency fructosemia fructosemia (disorder) fructosemias hered fructose intoleran hereditary fructose intolerance hereditary fructose intolerance syndrome hereditary fructose intolerances hereditary fructosuria hereditary fructosuria (disorder) intolerance, fructose intolerances, fructose
Orphanet	ORPHANET:469
OMIM	OMIM:229600
DOID	DOID:9869 DOID:5204
ICD10	ICD10CM:E74.12
UMLS	C0016751
MeSH	D005633
SNOMED-CT	SNOMEDCT_US_2016_09_01:20052008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0017178 \| gastrointestinal disorders \| 1 C0022104 \| irritable bowel syndrome \| 1 C0022104 \| irritable bowel \| 1 C0017178 \| gastrointestinal disorder \| 1 C0007570 \| celiac disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 229 \| ALDOB \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:10) 229 \| ALDOB \| 4.444 \| DISEASES 85365 \| ALG2 \| 2.946 \| DISEASES 896 \| CCND3 \| 2.409 \| DISEASES 3240 \| HP \| 1.674 \| DISEASES 3654 \| IRAK1 \| 2.714 \| DISEASES 5770 \| PTPN1 \| 2.133 \| DISEASES 5265 \| SERPINA1 \| 1.292 \| DISEASES 6888 \| TALDO1 \| 3.346 \| DISEASES 7018 \| TF \| 2.713 \| DISEASES 7187 \| TRAF3 \| 2.914 \| DISEASES
Locus	(Waiting for update.)

Disease ID	454
Disease	fructose intolerance
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002608 \| Celiac disease \| 1 HP:0011458 \| Abdominal symptom \| 1

Disease ID	454
Disease	fructose intolerance
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0020615 \| hypoglycemia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
ALDOB	p.A150P	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
ALDOB	p.A149P	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:22)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118204425	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101424975	AAG	-
rs118204426	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101425532	G	T
rs118204428	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101430878	G	A
rs118204429	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101429901	G	A
rs118204430	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101427580	A	G
rs145078268	10970798	229	ALDOB	umls:C0016751	UNIPROT	Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.	0.574621642	2000	ALDOB	9	101424931	C	G,T
rs1800546	15880727	229	ALDOB	umls:C0016751	UNIPROT	The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.	0.574621642	2005	ALDOB	9	101427574	C	G
rs1800546	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101427574	C	G
rs369586696	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101421877	A	G
rs370793608	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101426567	A	T
rs387906225	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101428488	GTTT	-
rs387906226	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101426627	TACCAG	-
rs41281039	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101429943	T	A
rs750026492	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101429755	C	T
rs762198323	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101428485	TTTG	-
rs764826805	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101429754	C	T
rs76917243	15880727	229	ALDOB	umls:C0016751	UNIPROT	The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.	0.574621642	2005	ALDOB	9	101427498	G	T
rs76917243	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101427498	G	T
rs77718928	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101421891	G	C,A
rs78340951	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101421899	G	C,A
rs786204503	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101425629	T	C
rs786204598	NA	229	ALDOB	umls:C0016751	CLINVAR	NA	0.574621642	NA	ALDOB	9	101429964	TACC	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	454
Disease	fructose intolerance
Case	(Waiting for update.)