ORPHA:469
Hereditary fructose intolerance
Synonyms: Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary fructose intolerance | Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia |
| fr | Intolérance au fructose héréditaire | Déficit héréditaire en fructose-1-phosphate aldolase · Fructosémie congénitale |
| de | Fruktoseintoleranz, hereditäre | Fructose-1-Phosphataldolase-Mangel, hereditärer · Fruktosämie, hereditäre |
| es | Intolerancia hereditaria a la fructosa | Deficiencia hereditaria de fructosa-1-fosfato aldolasa · Fructosemia hereditaria |
| it | Intolleranza ereditaria al fruttosio | Deficit ereditario di fruttosio-1-fosfato aldolasi · Fruttosemia ereditaria |
| nl | Erfelijke fructose-intolerantie | Erfelijke fructose-1,6-bifosfaataldolase B-deficiëntie · Erfelijke fructose-1-fosfaataldolasedeficiëntie · Erfelijke fructosemie |
| pt | Intolerância à frutose hereditária | Deficiência hereditária de frutose-1-fosfato aldolase · Frutosemia hereditária |
| pl | Dziedziczna nietolerancja fruktozy | Dziedziczna fruktozemia · Dziedziczny Niedobór aldolazy fruktozo-1-fosforanu |
| cs | Hereditární intolerance fruktózy | Hereditární deficit fruktóza-1-fosfátaldolázy · Dědičná fruktosemie |
| uk | Спадкова непереносимість фруктози | Спадковий дефіцит фруктозо-1-фосфат-альдолази · Спадкова фруктоземія |
| zh | 遗传性果糖不耐受症 | 遗传性果糖-1-磷酸醛缩酶缺乏症 |
| tr | Kalıtsal fruktoz intoleransı | Kalıtsal fruktozemi · Kalıtsal fruktoz-1-fosfat aldolaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229600 | E | validated | |
| ICD-10 | E74.1 | NTBT | inclusion | validated |
| ICD-11 | 5C51.50 | E | specific | validated |
| MONDO | 0009249 | E | validated | |
| MeSH | D005633 | E | validated | |
| UMLS | C0016751 | E | validated | |
| GARD | 6622 | E | validated | |
| MedDRA | 10019878 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:104003Congenital intestinal transport defect
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:309001Disorder of carbohydrate absorption and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:308463Disorder of fructose metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDOB | Disease-causing germline mutation(s) in | Assessed | HGNC:417 | ENSG00000136872 | 612724 | 9q31.1 | aldolase, fructose-bisphosphate B | 20848650[PMID] |
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Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Switzerland | Value and class | Validated | 15880727[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Switzerland | Class only | Validated | 15880727[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | United Kingdom | Value and class | Not yet validated | 12042775[PMID]_15880727[PMID]_8933337[PMID] |
| Point prevalence | 1-9 / 100 000 | — | United Kingdom | Class only | Not yet validated | 12042775[PMID]_15880727[PMID]_8933337[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.8 / 100 000 | Germany | Value and class | Validated | 15880727[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Germany | Class only | Validated | 15880727[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | Poland | Class only | Not yet validated | 16406649[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.2 / 100 000 | Poland | Value and class | Validated | 16406649[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.5 / 100 000 | Finland | Value and class | Not yet validated | 14565820[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.753 / 100 000 | United States | Value and class | Validated | 20033295[PMID]_36028839[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.38 / 100 000 | Specific population | Value and class | Validated | 36028839[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1981 / 100 000 | China | Value and class | Validated | 36028839[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2019-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0012545 | Reduced aldolase level | |
| Frequent (79-30%) | ||
| HP:0002014 | Diarrhea | |
| HP:0001510 | Growth delay | |
| HP:0002018 | Nausea | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0100626 | Chronic hepatic failure | |
| HP:0012622 | Chronic kidney disease | |
| HP:0002019 | Constipation | |
| HP:0001069 | Episodic hyperhidrosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002918 | Hypermagnesemia | |
| HP:0002149 | Hyperuricemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000952 | Jaundice | |
| HP:0001942 | Metabolic acidosis | |
| HP:0012051 | Reactive hypoglycemia | |
| HP:0000083 | Renal insufficiency | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0000518 | Cataract | |
| HP:0001259 | Coma | |
| HP:0001254 | Lethargy | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26677512[PMID]_28368361[PMID]_29552600[PMID]_9610797[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/469
- This record as JSON: /data/d/469.json