ORPHA:263508
COG1-CDG
Synonyms: CDG syndrome type IIg · CDG-IIg · CDG2G · Carbohydrate deficient glycoprotein syndrome type IIg · Congenital disorder of glycosylation type 2g · Congenital disorder of glycosylation type IIg
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COG1-CDG | CDG syndrome type IIg · CDG-IIg · CDG2G · Carbohydrate deficient glycoprotein syndrome type IIg · Congenital disorder of glycosylation type 2g · Congenital disorder of glycosylation type IIg |
| fr | COG1-CDG | Anomalie congénitale de la glycosylation type 2g · Anomalie congénitale de la glycosylation type IIg · CDG-IIg · CDG2G · Syndrome CDG type IIg · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIg |
| de | COG1-CDG | CDG (Congenital Disorder of Glycosylation) Typ IIg · CDG-IIg · CDG-Syndrom Typ IIg · CDG2G · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIg · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIg |
| es | COG1-CDG | CDG-IIg · CDG2G · Síndrome CDG tipo IIg · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIg · Trastorno congénito de la glicosilación tipo 2g · Trastorno congénito de la glicosilación tipo IIg |
| it | COG1-CDG | CDG-IIg · CDG2G · Disturbo congenito della glicosilazione, tipo IIg · Sindrome CDG, tipo IIg · Sindrome delle glicoproteine carenti in carboidrati, tipo IIg |
| nl | COG1-CDG | CDG-IIg · CDG-syndroom type IIg · CDG2G · Congenitale defecten van de glycosylering type 2g · Congenitale defecten van de glycosylering type IIg · Congenitale glycosylatiestoornis type 2g · Congenitale glycosylatiestoornis type IIg · Koolhydraatdeficiënt glycoproteïne syndroom type IIg |
| pt | Síndrome CDG, tipo IIg | |
| pl | COG1-CDG | CDG2G · CDG-IIg · Zespół CDG typu IIg · Wrodzone zaburzenie glikozylacji typu 2g · Wrodzone zaburzenie glikozylacji typu IIg · Zespół obniżonej glikozylacji glikoprotein typu IIg |
| cs | COG1-CDG | CDG syndrom, typ IIg · CDG-IIg · CDG2G · Vrozená porucha glykosylace, typ IIg |
| uk | COG1-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIg · Синдром CDG типу IIg · CDG2G · CDG-IIg · Вроджене порушення глікозилювання типу 2g · Вроджене порушення глікозилювання типу IIg |
| zh | COG1基因型先天性糖基化障碍 | 糖基化缺陷糖蛋白综合征IIg型 |
| tr | COG1-CDG | CDG2G · CDG-IIg · CDG sendromu tip IIg · Doğumsal glikozilasyon bozukluğu tip 2g · Doğumsal glikozilasyon bozukluğu tip IIg · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIg |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611209 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0012637 | E | validated | |
| MeSH | C535756 | E | validated | |
| UMLS | C2931011 | E | validated | |
| GARD | 10226 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309568Defect in conserved oligomeric Golgi complex
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6545 | ENSG00000166685 | 606973 | 17q25.1 | component of oligomeric golgi complex 1 | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 16537452[PMID]_19008299[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16537452[PMID]_19008299[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.
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HPO phenotypes
43 annotations · validated 2019-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001103 | Abnormal macular morphology | |
| HP:0011995 | Atrial septal dilatation | |
| HP:0003316 | Butterfly vertebrae | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0001508 | Failure to thrive | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0004582 | Irregularity of vertebral bodies | |
| HP:0000938 | Osteopenia | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0030282 | Posterior rib gap | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0008905 | Rhizomelia | |
| HP:0000902 | Rib fusion | |
| HP:0003026 | Short long bone | |
| HP:0000470 | Short neck | |
| HP:0000319 | Smooth philtrum | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0012301 | Type II transferrin isoform profile | |
| Occasional (29-5%) | ||
| HP:0000475 | Broad neck | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0002673 | Coxa valga | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0003180 | Flat acetabular roof | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0000160 | Narrow mouth | |
| HP:0000253 | Progressive microcephaly | |
| HP:0007112 | Temporal cortical atrophy | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 20301507[PMID]_19008299[PMID]_16537452[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263508
- This record as JSON: /data/d/263508.json