ORPHA:371200
Congenital disorder of glycosylation with skin involvement
Synonyms: CDG with skin 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 skin involvement | CDG with skin involvement |
| fr | Anomalie congénitale de la glycosylation avec atteinte cutanée | CDG avec atteinte cutanée |
| de | Kongenitale Glykosylierungsstörung mit Hautbeteiligung | CDG mit Hautbeteiligung |
| es | Trastorno congénito de la glicosilación con afectación cutánea | CDG con afectación cutánea |
| it | Disturbo congenito della glicosilazione con coinvolgimento cutaneo | CDG coin coinvolgimento cutaneo |
| nl | Congenitale glycosylatiestoornis met betrokkenheid van huid | CDG met betrokkenheid van huid |
| pt | Doença congénita de glicosilação com envolvimento da pele | |
| pl | Wrodzone zaburzenie glikozylacji z udziałem skóry | CDG z udziałem skóry |
| cs | Vrozená porucha glykosylace s postižením kůže | CDG s postižením kůže |
| uk | Вроджене порушення глікозилювання з ураженням шкіри | CDG з ураженням шкіри |
| zh | 先天性糖基化障碍伴皮肤受累 | CDG伴皮肤受累 |
| tr | Deri tutulumu ile seyreden doğumsal glikozilasyon bozukluğu | Deri tutulumu ile seyreden CDG |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18293 | E | validated | |
| UMLS | C5680020 | 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:79387Metabolic disease with skin involvement
rare genetic diseases; rare skin diseases
Children (12):
- ORPHA:692790ATP6AP1-CDG
- ORPHA:357058Autosomal recessive cutis laxa type 2A
- ORPHA:3474CHIME syndrome
- ORPHA:79333COG7-CDG
- ORPHA:91131DK1-CDG
- ORPHA:79145Dowling-Degos disease
- ORPHA:306661Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
- ORPHA:370933GM3 synthase deficiency
- ORPHA:79323MPDU1-CDG
- ORPHA:2953Musculocontractural Ehlers-Danlos syndrome
- ORPHA:79318PMM2-CDG
- ORPHA:324737SRD5A3-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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/371200
- This record as JSON: /data/d/371200.json