COG6-CGD
Synonyms: CDG2L · Congenital disorder of glycosylation type 2l · Congenital disorder of glycosylation type IIL · CDG syndrome type IIL · CDG-IIL
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COG6-CGD | CDG2L · Congenital disorder of glycosylation type 2l · Congenital disorder of glycosylation type IIL · CDG syndrome type IIL · CDG-IIL |
| fr | COG6-CGD | Anomalie congénitale de la glycosylation type 2l · Anomalie congénitale de la glycosylation type IIL · CDG-IIL · CDG2L · Syndrome CDG type IIL |
| de | COG6-CGD | CDG (Congenital Disorder of Glycosylation) Typ IIl · CDG-Syndrom Typ 2l · Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ 2l · Kongenitale Glykosylierungs-Krankheit Typ 2l |
| es | COG6-CGD | Trastorno congénito de la glicosilación tipo 2l · Trastorno congénito de la glicosilación tipo IIl |
| it | COG6-CGD | |
| nl | COG6-CGD | Congenitale defecten van de glycosylering type 2l · Congenitale defecten van de glycosylering type IIl · Congenitale glycosylatiestoornis type 2l · Congenitale glycosylatiestoornis type IIl |
| pt | COG6-CGD | CDG-IIL · CDG2L · Doença congénita da glicosilação tipo 2L · Doença congénita da glicosilação tipo IIL · Síndrome CDG tipo IIL |
| pl | COG6-CGD | Wrodzone zaburzenia glikozylacji typu 2l · Wrodzone zaburzenia glikozylacji typu IIl |
| cs | COG6-CDG | CDG2L · CDG-IIL · CDG syndrome type IIL · Congenital disorder of glycosylation type 2l · Congenital disorder of glycosylation type IIL · CDG syndrom typ IIL · Vrozená porucha glykosylace typ 2l · Vrozená porucha glykosylace typ IIL |
| uk | COG6-CGD | Синдром CDG, тип IIL · CDG2L · CDG-IIL · Вроджене порушення глікозилювання типу 2l · Вроджене порушення глікозилювання типу IIL |
| zh | 先天性糖基化障碍IIL型 | 先天性糖基化障碍IIL型 |
| tr | COG6-CGD | CDG2L · CDG-IIL · CDG sendromu tip IIL · Tip 2l glikozilasyonun doğumsal bozukluğu · Glikozilasyon tip IIL'nin doğumsal bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614576 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0013810 | E | validated | |
| UMLS | C3553230 | E | validated | |
| GARD | 10944 | 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 (2):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309568Defect in conserved oligomeric Golgi complex
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COG6 | Disease-causing germline mutation(s) in | Assessed | HGNC:18621 | ENSG00000133103 | 606977 | 13q14.11 | component of oligomeric golgi complex 6 | 23430903[PMID]_26260076[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 26260076[PMID]_23430903[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26260076[PMID]_23430903[PMID] |
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/464443
- This record as JSON: /data/d/464443.json