ORPHA:364
Glycogen storage disease due to glucose-6-phosphatase deficiency
Synonyms: G6P deficiency · GSD due to G6P deficiency · GSD type 1 · GSD type I · Glycogen storage disease due to G6P deficiency · Glycogen storage disease type 1 · Glycogen storage disease type I · Glycogenosis type 1 · Glycogenosis type I · Hepatorenal glycogenosis · Von Gierke disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to glucose-6-phosphatase deficiency | G6P deficiency · GSD due to G6P deficiency · GSD type 1 · GSD type I · Glycogen storage disease due to G6P deficiency · Glycogen storage disease type 1 · Glycogen storage disease type I · Glycogenosis type 1 · Glycogenosis type I · Hepatorenal glycogenosis · Von Gierke disease |
| fr | Glycogénose par déficit en glucose-6-phosphatase | Déficit en G6P · GSD type 1 · GSD type I · Glycogénose hépato-rénale · Glycogénose type 1 · Glycogénose type I · Maladie de von Gierke |
| de | Glykogenose Typ 1 | G6P-Mangel · GSD Typ 1 · GSD Typ I · GSD durch G6P-Mangel · Glukose-6-Phosphatase-Mangel · Glukose-6-Phosphatase-Translokase-Mangel · Glykogen-Speicherkrankheit Typ 1 · Glykogen-Speicherkrankheit Typ I · Glykogen-Speicherkrankheit durch Glukose-6-Phosphatase-Mangel · Glykogenose, hepatorenale · Von-Gierke-Krankheit |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa | Deficiencia de G6P · Enfermedad de Von Gierke · Enfermedad de almacenamiento de glucógeno por deficiencia de G6P · Enfermedad de almacenamiento de glucógeno tipo 1 · Enfermedad de almacenamiento de glucógeno tipo I · GSD por deficiencia de G6P · GSD tipo 1 · GSD tipo I · Glucogenosis hepatorrenal · Glucogenosis tipo 1 · Glucogenosis tipo I |
| it | Malattia da deposito di glicogeno da deficit di glucosio-6-fosfatasi | Deficit di G6P · GSD da deficit di G6P · GSD, tipo 1 · Glicogenosi epatorenale · Glicogenosi, tipo 1 · Malattia da deposito di glicogeno da deficit di G6P · Malattia da deposito di glicogeno, tipo 1 · Malattia di von Gierke |
| nl | Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase | G6P-deficiëntie · GSD door G6P-deficiëntie · GSD door deficiëntie van glucose-6-fosfatase · GSD type 1 · GSD type I · Glycogeenstapelingsziekte door G6P-deficiëntie · Glycogeenstapelingsziekte type 1 · Glycogeenstapelingsziekte type I · Glycogenose door deficiëntie van glucose-6-fosfatase · Glycogenose type 1 · Glycogenose type I · Hepatorenale glycogenose · Ziekte van von Gierke |
| pt | Doença de armazenamento de glicogénio devida a deficiência de glucose-6-fosfatase | Doença de Von Gierke · Glicogenose hepatorrenal · Glicogenose por deficiência de glucose-6-fosfato translocase · Glicogenose tipo 1 |
| pl | Choroba spichrzania glikogenu spowodowana niedoborem glukozo-6-fosfatazy | Choroba spichrzania glikogenu spowodowana niedoborem G6P · Choroba spichrzania glikogenu typu 1 · Choroba Von Gierke · Glikogenoza typu 1 · Glikogenoza wątrobowo-nerkowa · GSD spowodowane niedoborem G6P · GSD typu 1 · Niedobór G6P |
| cs | Glykogenóza způsobená deficitem glukóza-6-fosfatázy | Deficit G6P · GSD typ 1 · GSD typ I · Glykogenóza, typ 1 · Glykogenóza, typ I · Hepatorenální glykogenóza · Von Gierkova nemoc · GSD způsobená deficitem G6P · Glykogenóza způsobená deficitem G6P |
| uk | Хвороба накопичення глікогену, зумовлена дефіцитом глюкозо-6-фосфатази | Дефіцит G6P · Хвороба накопичення глікогену внаслідок дефіциту G6P · Глікогенова хвороба 1-го типу · Глікогенова хвороба I типу · Глікогеноз типу 1 · Глікогеноз I типу · GSD внаслідок дефіциту G6P · GSD тип 1 · GSD тип I · Гепаторенальний глікогеноз · Хвороба фон Гірке |
| zh | 葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症 | 葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症 |
| tr | Glikoz-6-fosfataz eksikliğine bağlı glikojen depo hastalığı | GSD tip 1 · GSD tip I · G6P eksikliği · Von Gierke hastalığı · Glikojenoz tip 1 · Glikojenoz tip I · Hepatorenal glikojenoz · G6P eksikliğine bağlı GSD · Glikojen depo hastalığı tip 1 · Glikojen depo hastalığı tip I · G6P eksikliğine bağlı glikojen depo hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232200 | BTNT | validated | |
| OMIM | 232220 | BTNT | validated | |
| OMIM | 232240 | BTNT | validated | |
| ICD-10 | E74.0 | NTBT | inclusion | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0002413 | E | validated | |
| MeSH | D005953 | E | validated | |
| UMLS | C0017920 | E | validated | |
| MedDRA | 10018464 | 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: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:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| G6PC1 | ORPHA:79258Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia | Disease-causing germline mutation(s) in | Assessed | HGNC:4056 | ENSG00000131482 | 613742 | 17q21.31 | glucose-6-phosphatase catalytic subunit 1 | |
| SLC37A4 | ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | Disease-causing germline mutation(s) in | Assessed | HGNC:4061 | ENSG00000137700 | 602671 | 11q23.3 | solute carrier family 37 member 4 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 21599942[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000293 | Full cheeks | |
| HP:0003077 | Hyperlipidemia | |
| HP:0002149 | Hyperuricemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000991 | Xanthomatosis | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364
- This record as JSON: /data/d/364.json