ORPHA:2088
Fanconi-Bickel syndrome
Synonyms: GSD due to GLUT2 deficiency · Glycogen storage disease due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fanconi-Bickel syndrome | GSD due to GLUT2 deficiency · Glycogen storage disease due to GLUT2 deficiency · Glycogenosis due to GLUT2 deficiency |
| fr | Syndrome de Fanconi-Bickel | GSD par déficit en GLUT2 · Glycogénose par déficit en GLUT2 |
| de | Fanconi-Bickel-Syndrom | GSD durch GLUT2-Mangel · Glykogen-Speicherkrankheit durch GLUT2-Mangel · Glykogenose durch GLUT2-Mangel |
| es | Síndrome de Fanconi-Bickel | Enfermedad por almacenamiento de glucógeno por deficiencia de GLUT2 · GSD por deficiencia de GLUT2 · Glucogenosis por deficiencia de GLUT2 |
| it | Sindrome di Fanconi-Bickel | GSD da deficit di GLUT2 · Glicogenosi da deficit di GLUT2 · Malattia da deposito di glicogeno dovuta a deficit di GLUT2 |
| nl | Syndroom van Fanconi-Bickel | GSD door GLUT2-deficiëntie · Glycogeenstapelingsziekte door GLUT2-deficiëntie · Glycogenose door GLUT2-deficiëntie |
| pt | Síndrome Fanconi-Bickel | Doença de armazenamento de glicogénio devido a deficiência GLUT2 · GSD devido a deficiência GLUT2 · Glicogenose devido a deficiência GLUT2 |
| pl | Choroba spichrzania glikogenu z powodu niedoboru GLUT2 | Choroba Fanconiego i Bickela · Glikogenoza Fanconiego i Bickela · Glikogenoza z powodu niedoboru GLUT2 · GSD z powodu niedoboru GLUT2 |
| cs | Fanconiho-Bickelův syndrom | Bickelova-Fanconiho glykogenóza · Fanconiho-Bickelova choroba · GSD typ 11 · GSD typ XI · Glykogenóza, typ 11 · Glykogenóza, typ XI · GSD způsobená deficitem GLUT2 · Glykogenóza způsobená GLUT2 deficitem · Bickel-Fanconiho glykogenóza · Fanconi-Bickelova choroba |
| uk | Синдром Фанконі-Бікеля | Хвороба накопичення глікогену через дефіцит GLUT2 · Глікогеноз внаслідок дефіциту GLUT2 · GSD через дефіцит GLUT2 |
| zh | Fanconi-Bickel综合征 | GLT2缺乏所致糖原病 |
| tr | Fanconi-Bickel Sendromu | GSD tip 11 · GSD tip XI · GLUT2 eksikliğine bağlı GSD · Glikojen depo hastalığı tip 11 · Glikojen depo hastalığı tip XI · GLUT2 eksikliğine bağlı glikojenoz · GLUT2 eksikliğine bağlı glikojen depo hali |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227810 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009216 | E | validated | |
| UMLS | C3495427 | E | validated | |
| GARD | 2268 | 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 (4):
- ORPHA:79178Glucose transport disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:79201Glycogen storage disease
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:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC2A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11006 | ENSG00000163581 | 138160 | 3q26.2 | solute carrier family 2 member 2 | 21327337[PMID]_22865906[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | 11949937[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Specific population | Value and class | Validated | 33239050[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
31 annotations · validated 2020-12-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0500030 | Abnormal hepatic glycogen storage | |
| HP:0001508 | Failure to thrive | |
| HP:0004919 | Galactose intolerance | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0040270 | Impaired glucose tolerance | |
| HP:0006568 | Increased hepatic glycogen content | |
| HP:0001947 | Renal tubular acidosis | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0003076 | Glycosuria | |
| HP:0001510 | Growth delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0002150 | Hypercalciuria | |
| HP:0001942 | Metabolic acidosis | |
| HP:0011998 | Postprandial hyperglycemia | |
| HP:0002748 | Rickets | |
| Occasional (29-5%) | ||
| HP:0020110 | Bone fracture | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000819 | Diabetes mellitus | |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration | |
| HP:0002909 | Generalized aminoaciduria | |
| HP:0001399 | Hepatic failure | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000112 | Nephropathy | |
| HP:0000938 | Osteopenia | |
| Very rare (<4-1%) | ||
| HP:0000295 | Doll-like facies | |
| HP:0001402 | Hepatocellular carcinoma | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 29624224[PMID]_30950137[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2088
- This record as JSON: /data/d/2088.json