ORPHA:79258
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Synonyms: G6P deficiency type 1a · GSD due to G6P deficiency type 1a · GSD due to G6P deficiency type Ia · GSD type 1a · GSDIa · Glycogen storage disease due to G6P deficiency type Ia · Glycogen storage disease type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type Ia · Glycogenosis type Ia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Glycogen storage disease due to glucose-6-phosphatase deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia | G6P deficiency type 1a · GSD due to G6P deficiency type 1a · GSD due to G6P deficiency type Ia · GSD type 1a · GSDIa · Glycogen storage disease due to G6P deficiency type Ia · Glycogen storage disease type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type Ia · Glycogenosis type Ia |
| fr | Glycogénose par déficit en glucose-6-phosphatase de type Ia | Déficit en G6P type Ia · GSD type 1a · GSD type Ia · GSDIa · Glycogénose 1a · Glycogénose Ia · Glycogénose type 1a · Glycogénose type Ia |
| de | Glykogenose Typ 1a | G6PE-Mangel Typ 1a · GSD Typ 1a · GSD Typ Ia · GSD durch Glukose-6-Phosphatase-Mangel Typ 1a · GSD-Mangel Typ 1a · Glykogen-Speicherkrankheit Typ 1a · Glykogen-Speicherkrankheit Typ Ia · Glykogen-Speicherkrankheit durch Glukose-6-Phosphatase-Mangel Typ 1a · Glykogenose Typ Ia · Glykogenose durch Glukose-6-Phosphatase-Mangel Typ Ia |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de glucosa-6-fosfatasa tipo Ia | Deficiencia de G6P tipo Ia · Enfermedad por almacenamiento de glucógeno por deficiencia de G6P tipo Ia · Enfermedad por almacenamiento de glucógeno tipo 1a · GSD por deficiencia de G6P tipo 1a · GSD por deficiencia de G6P tipo Ia · GSD tipo 1a · GSDIa · Glucogenosis por deficiencia de glucosa-6-fosfatasa tipo 1a · Glucogenosis por deficiencia de glucosa-6-fosfatasa tipo Ia · Glucogenosis tipo Ia |
| it | Glicogenosi da deficit di glucosio-6-fosfatasi, tipo a | Deficit di G6P, tipo a · GSD ad deficit di G6P, tipo a · GSD, tipo 1a · GSDIa · Glicogenosi Ia · Glicogenosi, tipo Ia · Malattia da deposito di glicogeno dovuta a deficit di G6P, tipo a · Malattia da deposito di glicogeno, tipo 1a |
| nl | Glycogeenstapelingsziekte door deficiëntie van glucose-6-fosfatase type Ia | G6P-deficiëntie type 1a · GSD door G6P-deficiëntie type 1a · GSD door G6P-deficiëntie type Ia · GSD type 1a · GSDIa · Glycogeenstapelingsziekte door G6P-deficiëntie type 1a · Glycogeenstapelingsziekte type 1a · Glycogenose door deficiëntie van glucose-6-fosfatase type 1a · Glycogenose door deficiëntie van glucose-6-fosfatase type Ia · Glycogenose type Ia |
| pt | Doença de armazenamento de glicogénio por deficiência de glucose-6-fosfatase tipo 1A | |
| pl | Choroba spichrzania glikogenu z powodu niedoboru glukozo-6-fosfatazy typu a | Choroba spichrzania glikogenu z powodu niedoboru G6P typu a · Choroba spichrzania glikogenu typu 1a · Glikogenoza typu Ia · Glikogenoza z powodu niedoboru glukozo-6-fosfatazy typu a · GSD typu 1a · GSD z powodu niedoboru G6P typu a · GSDIa · Niedobór G6P typu a |
| cs | Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ Ia | Deficit G6P, typ Ia · GSD typ 1a · GSDIa · Glykogenóza, typ 1a · Glykogenóza, typ Ia · GSD způsobená deficitem G6P, typ 1a · GSD způsobená deficitem G6P, typ Ia · Glykogenóza způsobená deficitem G6P, typ Ia · Glykogenóza způsobená deficitem glukóza-6-fosfatázy, typ 1a |
| uk | Дефіцит глікогену внаслідок дефіциту глюкозо-6-фосфатази, тип Ia | Дефіцит G6P, тип 1a · Дефіцит глікогену внаслідок дефіциту G6P, тип Ia · Глікогенова хвороба, тип 1а · Глікогеноз внаслідок дефіциту глюкозо-6-фосфатази типу 1а · Глікогеноз внаслідок дефіциту глюкозо-6-фосфатази типу Ia · Глікогеноз Ia типу · GSD внаслідок дефіциту G6P, тип 1a · GSD внаслідок дефіциту G6P, тип Ia · GSD тип 1a · GSDIa |
| zh | 葡糖-6-磷酸酶缺乏所致糖原贮积症1a型 | 葡糖-6-磷酸酶缺乏所致糖原病Ia型 |
| tr | Glukoz-6-fosfataz eksikliği tip Ia'ya bağlı glikojen depo hastalığı | GSDIa · GSD tipi 1a · Glikojenoz tip Ia · G6P eksikliği tip 1a · Glikojen depo hastalığı tip 1a · G6P eksikliği tip 1a nedeniyle GSD · G6P eksikliği tip Ia nedeniyle GSD · G6P eksikliği tip Ia'ya bağlı glikojen depo hastalığı · Glikoz-6-fosfataz eksikliğine bağlı glikojenoz tip 1a · Glikoz-6-fosfataz eksikliği tip Ia'ya bağlı glikojenoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 232200 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | index | validated |
| MONDO | 0009287 | E | validated | |
| UMLS | C2919796 | E | validated | |
| GARD | 7864 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364Glycogen storage disease due to glucose-6-phosphatase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| G6PC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4056 | ENSG00000131482 | 613742 | 17q21.31 | glucose-6-phosphatase catalytic subunit 1 |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Israel | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79258
- This record as JSON: /data/d/79258.json