ORPHA:371071
Congenital disorder of glycosylation with epilepsy as a major feature
Synonyms: CDG with epilepsy as a major feature
- 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 epilepsy as a major feature | CDG with epilepsy as a major feature |
| fr | Anomalie congénitale de la glycosylation avec épilepsie comme manifestation majeure | CDG avec épilepsie comme manifestation majeure |
| de | Kongenitale Glykosylierungsstörung mit Epilepsie als Hauptmerkmal | CDG mit Epilepsie als Hauptmerkmal |
| es | Trastorno congénito de la glicosilación con epilepsia como característica principal | CDG con epilepsia como característica principal |
| it | Disturbo congenito della glicosilazione come segno cardinale | CDG con epilessia come segno cardinale |
| nl | Congenitale glycosylatiestoornis met epilepsie als hoofdkenmerk | CDG met epilepsie als hoofdkenmerk |
| pt | Doença congénita de glicosilação com epilepsia como característica principal | |
| pl | Wrodzone zaburzenie glikozylacji z padaczką jako objawem głównym | CDG z padaczką jako objawem głównym |
| cs | Vrozená porucha glykosylace s epilepsií jako hlavním příznakem | CDG s epilepsií jako hlavním příznakem |
| uk | Вроджене порушення глікозилювання з епілепсією як основною ознакою | CDG з епілепсією як головною особливістю |
| zh | 以癫痫为主要特征的先天性糖基化障碍 | 以癫痫为主要特征的CDG |
| tr | Esas klinik özelliği epilepsi olan doğumsal glikozilasyon bozukluğu | Esas klinik özelliği epilepsi olan CDG |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18287 | E | validated | |
| UMLS | C5679904 | 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 (2):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:166481Metabolic diseases with epilepsy
rare genetic diseases; rare neurological diseases
Children (35):
- ORPHA:79327ALG1-CDG
- ORPHA:280071ALG11-CDG
- ORPHA:324422ALG13-CDG
- ORPHA:79326ALG2-CDG
- ORPHA:79321ALG3-CDG
- ORPHA:79320ALG6-CDG
- ORPHA:79328ALG9-CDG
- ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- ORPHA:357058Autosomal recessive cutis laxa type 2A
- ORPHA:3474CHIME syndrome
- ORPHA:263501COG4-CDG
- ORPHA:79333COG7-CDG
- ORPHA:95428COG8-CDG
- ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:272Congenital muscular dystrophy, Fukuyama type
- ORPHA:86309DPAGT1-CDG
- ORPHA:79322DPM1-CDG
- ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- ORPHA:370933GM3 synthase deficiency
- ORPHA:83639Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- ORPHA:99843Leukocyte adhesion deficiency type II
- ORPHA:79330MOGS-CDG
- ORPHA:79323MPDU1-CDG
- ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome
- ORPHA:300496Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- ORPHA:588Muscle-eye-brain disease
- ORPHA:79318PMM2-CDG
- ORPHA:244310RFT1-CDG
- ORPHA:238459SLC35A1-CDG
- ORPHA:356961SLC35A2-CDG
- ORPHA:370927SSR4-CDG
- ORPHA:370921STT3A-CDG
- ORPHA:370924STT3B-CDG
- ORPHA:466926Seizures-scoliosis-macrocephaly syndrome
- ORPHA:899Walker-Warburg syndrome
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/371071
- This record as JSON: /data/d/371071.json