Congenital disorder of glycosylation
Synonyms: CDG · Carbohydrate deficient glycoprotein syndrome
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). This group is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital disorder of glycosylation | CDG · Carbohydrate deficient glycoprotein syndrome |
| fr | Anomalie congénitale de la glycosylation | CDG · Syndrome des glycoprotéines déficientes en hydrates de carbone |
| de | Kongenitale Glykosylierungsstörung | CDG · Kohlenhydrat-defizientes Glykoprotein-Syndrom · Kongenitale Glykosylierungs-Krankheit · Kongenitaler Defekt der Glykosylierung |
| es | Trastorno congénito de la glicosilación | CDG · Síndrome de glicoproteínas deficientes en carbohidratos |
| it | Disturbo congenito della glicosilazione | CDG · Sindrome delle glicoproteine carenti in carboidrati |
| nl | Congenitale glycosylatiestoornis | CDG · Congenitale defecten van glycosylering · Koolhydraatdeficiënt glycoproteïnesyndroom |
| pt | Doença congénita da glicosilação | CDG · Síndrome de glicoproteínas deficientes em carboidratos |
| pl | Wrodzone zaburzenia glikozylacji | CDG · Zespół niedoboru wodorowęglanu glikoproteiny |
| cs | Vrozená porucha glykosylace | CDG · Glykoproteinový syndrom deficitu sacharidů |
| uk | Вроджене порушення глікозилювання | Глікопротеїновий синдром з дефіцитом вуглеводів · CDG |
| zh | 先天性糖基化障碍 | 碳水化合物缺乏糖蛋白综合征 |
| tr | Doğumsal glikozilasyon bozukluğu | CDG · Karbonhidrat eksikliği olan glikoprotein sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E77.8 | E | specific | validated |
| MONDO | 0015286 | E | validated | |
| MONDO | 15286 | E | validated | |
| MeSH | D018981 | E | validated | |
| UMLS | C0282577 | E | validated | |
| GARD | 10307 | E | validated | |
| MedDRA | 10075892 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:68367Rare inborn error of metabolism
rare inborn errors of metabolism; rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137
- This record as JSON: /data/d/137.json