ORPHA:371157
Congenital disorder of glycosylation with hepatic involvement
Synonyms: CDG with hepatic involvement
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital disorder of glycosylation with hepatic involvement | CDG with hepatic involvement |
| fr | Anomalie congénitale de la glycosylation avec atteinte hépatique | CDG avec atteinte hépatique |
| de | Kongenitale Glykosylierungsstörung mit hepatischer Beteiligung | CDG mit Leberstörung |
| es | Trastorno congénito de la glicosilación con afectación hepática | CDG con afectación hepática |
| it | Disturbo congenito della glicosilazione con coinvolgimento epatico | CDG con coinvolgimento epatico |
| nl | Congenitale glycosylatiestoornis met betrokkenheid van lever | CDG met hepatische betrokkenheid |
| pt | Doença congénita de glicosilação com envolvimento hepático | |
| pl | Wrodzone zaburzenie glikozylacji z udziałem wątroby | CDG z udziałem wątroby |
| cs | Vrozená porucha glykosylace s postižením jater | CDG s postižením jater |
| uk | Вроджене порушення глікозилювання з ураженням печінки | CDG з ураженням печінки |
| zh | 先天性糖基化障碍伴肝脏受累 | CDG伴肝脏受累 |
| tr | Karaciğer tutulumu ile seyreden doğumsal glikozilasyon bozukluğu | Karaciğer tutulumu ile seyreden CDG |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18288 | E | validated | |
| UMLS | C5679910 | 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:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
Children (15):
- ORPHA:324422ALG13-CDG
- ORPHA:79326ALG2-CDG
- ORPHA:79325ALG8-CDG
- ORPHA:79328ALG9-CDG
- ORPHA:692790ATP6AP1-CDG
- ORPHA:79332B4GALT1-CDG
- ORPHA:263501COG4-CDG
- ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:300536DDOST-CDG
- ORPHA:79330MOGS-CDG
- ORPHA:79319MPI-CDG
- ORPHA:319646PGM1-CDG
- ORPHA:79318PMM2-CDG
- ORPHA:244310RFT1-CDG
- ORPHA:314667TMEM165-CDG
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/371157
- This record as JSON: /data/d/371157.json