COG2-CDG
Synonyms: COG2-related congenital disorder of glycosylation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, congenital disorder of glycosylation caused by mutations in the <i>COG2</i> gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COG2-CDG | COG2-related congenital disorder of glycosylation |
| fr | COG2-CDG | Anomalie congénitale de la glycosylation associée à COG2 |
| de | COG2-CDG | COG2-assoziierte kongenitale Glykosylierungs-Krankheit |
| es | COG2-CDG | Trastorno congénito de la glicosilación asociado a COG2 |
| it | COG2-CDG | Disturbo congenito della glicosilazione COG2-correlato |
| nl | COG2-CDG | COG2-gerelateerde congenitale glycosylatiestoornis |
| pt | COG2-CDG | |
| pl | COG2-CDG | Wrodzone zaburzenie glikozylacji związane z COG2 |
| cs | COG2-CDG | COG2-vázaná vrozená porucha glykosylace |
| uk | COG2-CDG | Вроджене порушення глікозилювання, повязане з COG2 |
| zh | COG2异常所致的先天性糖基化障碍 | COG2相关先天性糖基化障碍 |
| tr | COG2-CDG | COG2-ilişkili doğumsal glikozilasyon bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617395 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0054559 | E | validated | |
| UMLS | C4479353 | 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 |
|---|---|---|---|---|---|---|---|---|
| COG2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6546 | ENSG00000135775 | 606974 | 1q42.2 | component of oligomeric golgi complex 2 | 24784932[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 24784932[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24784932[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
13 annotations · validated 2021-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0010837 | Decreased circulating ceruloplasmin concentration | |
| HP:0011967 | Decreased circulating copper concentration | |
| HP:0001410 | Decreased liver function | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001249 | Intellectual disability | |
| HP:0002361 | Psychomotor deterioration | |
| HP:0005484 | Secondary microcephaly | |
| HP:0012506 | Small pituitary gland | |
| HP:0002510 | Spastic tetraplegia | |
Annotation source: 20301507[PMID]_24784932[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435934
- This record as JSON: /data/d/435934.json