ORPHA:309347
Disorder of protein N-glycosylation
- 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 | Disorder of protein N-glycosylation | |
| fr | Anomalie de la N-glycosylation | |
| de | Störung der Protein N-Glykosylierung | |
| es | Trastorno de la N-glicosilación de proteínas | |
| it | Disturbo della N-glicosilazione delle proteine | |
| nl | Stoornis van de proteïne N-glycosylatie | |
| pt | Alteração da proteína N-glicosilação | |
| pl | Zaburzenia N-glikozylacji białek | |
| cs | Poruchy N-glykosylace proteinů | |
| uk | Порушення N-глікозилювання білків | |
| zh | 蛋白N-糖基化紊乱 | |
| tr | Protein N-glikozilasyon bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C54.0 | E | specific | validated |
| MONDO | 0017740 | E | validated | |
| MONDO | 17740 | E | validated | |
| UMLS | C5681044 | 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:137Congenital disorder of glycosylation
rare inborn errors of metabolism; rare genetic diseases
Children (28):
- ORPHA:79327ALG1-CDG
- ORPHA:280071ALG11-CDG
- ORPHA:79324ALG12-CDG
- ORPHA:324422ALG13-CDG
- ORPHA:79326ALG2-CDG
- ORPHA:79321ALG3-CDG
- ORPHA:79320ALG6-CDG
- ORPHA:79325ALG8-CDG
- ORPHA:79328ALG9-CDG
- ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- ORPHA:353327Congenital myasthenic syndrome with glycosylation defect
- ORPHA:300536DDOST-CDG
- ORPHA:86309DPAGT1-CDG
- ORPHA:695783EDEM3-CDG
- ORPHA:397941MAN1B1-CDG
- ORPHA:695110MAN2B2-CDG
- ORPHA:79329MGAT2-CDG
- ORPHA:79330MOGS-CDG
- ORPHA:79319MPI-CDG
- ORPHA:319646PGM1-CDG
- ORPHA:79318PMM2-CDG
- ORPHA:244310RFT1-CDG
- ORPHA:468699SLC39A8-CDG
- ORPHA:370927SSR4-CDG
- ORPHA:697734ST3GAL3-CDG
- ORPHA:370921STT3A-CDG
- ORPHA:370924STT3B-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/309347
- This record as JSON: /data/d/309347.json