ORPHA:371047
Congenital disorder of glycosylation with neurological involvement
Synonyms: CDG with neurological 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 neurological involvement | CDG with neurological involvement |
| fr | Anomalie congénitale de la glycosylation avec atteinte neurologique | CDG avec atteinte neurologique |
| de | Kongenitale Glykosylierungsstörung mit neurologischer Beteiligung | CDG mit neurologischer Beteiligung |
| es | Trastorno congénito de la glicosilación con afectación neurológica | CDG con afectación neurológica |
| it | Disturbo congenito della glicosilazione con coinvolgimento neurologico | CDG con coinvolgimento neurologico |
| nl | Congenitale glycosylatiestoornis met neurologische betrokkenheid | CDG met neurologische betrokkenheid |
| pt | Doença congénita de glicosilação com envolvimento neurológico | |
| pl | Wrodzone zaburzenie glikozylacji z zaburzeniami neurologicznymi | CDG z zaburzeniami neurologicznymi |
| cs | Vrozená porucha glykosylace s neurologickým postižením | CDG s neurologickým postižením |
| uk | Вроджене порушення глікозилювання з неврологічними проявами | CDG з неврологічними захворюваннями |
| zh | 先天性糖基化障碍伴神经损害 | CDG伴神经损害 |
| tr | Nörolojik tutulumla birlikte doğumsal glikozilasyon bozukluğu | Nörolojik tutulumlu CDG |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18284 | E | validated | |
| UMLS | C5679903 | 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
Children (37):
- ORPHA:79324ALG12-CDG
- ORPHA:79325ALG8-CDG
- ORPHA:692790ATP6AP1-CDG
- ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- ORPHA:79332B4GALT1-CDG
- ORPHA:448010CAD-CDG
- ORPHA:263508COG1-CDG
- ORPHA:435934COG2-CDG
- ORPHA:263487COG5-CDG
- ORPHA:464443COG6-CGD
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
- ORPHA:370959Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968Congenital muscular dystrophy with intellectual disability
- ORPHA:370980Congenital muscular dystrophy without intellectual disability
- ORPHA:353327Congenital myasthenic syndrome with glycosylation defect
- ORPHA:300536DDOST-CDG
- ORPHA:263494DPM3-CDG
- ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9
- ORPHA:206554Fukutin-related limb-girdle muscular dystrophy R13
- ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19
- ORPHA:602GNE myopathy
- ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
- ORPHA:397941MAN1B1-CDG
- ORPHA:79329MGAT2-CDG
- ORPHA:2953Musculocontractural Ehlers-Danlos syndrome
- ORPHA:206564POMGNT1-related limb-girdle muscular dystrophy R15
- ORPHA:565899POMGNT2-related limb-girdle muscular dystrophy R24
- ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11
- ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14
- ORPHA:709Peters plus syndrome
- ORPHA:263516Progressive myoclonic epilepsy type 3
- ORPHA:468699SLC39A8-CDG
- ORPHA:324737SRD5A3-CDG
- ORPHA:697734ST3GAL3-CDG
- ORPHA:314667TMEM165-CDG
- ORPHA:363417Temtamy preaxial brachydactyly syndrome
- ORPHA:370930XYLT1-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/371047
- This record as JSON: /data/d/371047.json