ORPHA:263487
COG5-CDG
Synonyms: CDG syndrome type IIi · CDG-IIi · CDG2I · Carbohydrate deficient glycoprotein syndrome type IIi · Congenital disorder of glycosylation type 2i · Congenital disorder of glycosylation type IIi
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COG5-CDG | CDG syndrome type IIi · CDG-IIi · CDG2I · Carbohydrate deficient glycoprotein syndrome type IIi · Congenital disorder of glycosylation type 2i · Congenital disorder of glycosylation type IIi |
| fr | COG5-CDG | Anomalie congénitale de la glycosylation type 2i · Anomalie congénitale de la glycosylation type IIi · CDG-IIi · CDG2I · Syndrome CDG type IIi · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIi |
| de | COG5-CDG | CDG (Congenital Disorder of Glycosylation) Typ Iii · CDG-IIi · CDG-Syndrom Typ IIi · CDG2I · Kohlenhydrat-defizientes Glykoprotein-Syndrom Iii · Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iii |
| es | COG5-CDG | CDG-IIi · CDG2I · Síndrome CDG tipo IIi · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIi · Trastorno congénito de la glicosilación tipo 2i · Trastorno congénito de la glicosilación tipo IIi |
| it | COG5-CDG | CDG-IIi · CDG2I · Disturbo congenito della glicosilazione, tipo IIi · Sindrome CDG, tipo IIi · Sindrome delle glicoproteine carenti in carboidrati, tipo IIi |
| nl | COG5-CDG | CDG-IIi · CDG-syndroom type IIi · CDG2I · Congenitale defecten van de glycosylering type 2i · Congenitale defecten van de glycosylering type IIi · Congenitale glycosylatiestoornis type 2i · Congenitale glycosylatiestoornis type IIi · Koolhydraatdeficiënt glycoproteïne syndroom type IIi |
| pt | SíndromeCDG, tipo IIi | |
| pl | COG5-CDG | CDG2I · CDG-IIi · Zespół CDG typu IIi · Wrodzone zaburzenie glikozylacji typu 2i · Wrodzone zaburzenie glikozylacji typu IIi · Zespół obniżonej glikozylacji glikoprotein typu IIi |
| cs | COG5-CDG | CDG syndrom, typ IIi · CDG-IIi · CDG2I · Vrozená porucha glykosylace, typ IIi |
| uk | COG5-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIi · Синдром CDG тип IIIi · CDG2I · CDG-ІІІ · Вроджене порушення глікозилювання типу 2i · Вроджене порушення глікозилювання типу IIi |
| zh | COG5基因型先天性糖基化障碍 | 糖基化缺陷糖蛋白综合征IIi型 |
| tr | COG5-CDG | CDG2I · CDG-IIi · CDG sendromu tip IIi · Doğumsal glikozilasyon bozukluğu tip 2i · Doğumsal glikozilasyon bozukluğu tip IIi · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613612 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0013325 | E | validated | |
| UMLS | C3150876 | E | validated | |
| GARD | 12348 | 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 (3):
- 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 - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COG5 | Disease-causing germline mutation(s) in | Assessed | HGNC:14857 | ENSG00000164597 | 606821 | 7q22.3 | component of oligomeric golgi complex 5 | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 22516080[PMID]_23228021[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
46 annotations · validated 2019-09-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0008947 | Floppy infant | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0010864 | Intellectual disability, severe | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000448 | Prominent nose | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin | |
| HP:0000599 | Abnormality of the frontal hairline | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0000729 | Autistic behavior | |
| HP:0012444 | Brain atrophy | |
| HP:0001348 | Brisk reflexes | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0012448 | Delayed myelination | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0040019 | Finger clinodactyly | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0002857 | Genu valgum | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000218 | High palate | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000054 | Micropenis | |
| HP:0000011 | Neurogenic bladder | |
| HP:0001562 | Oligohydramnios | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0002078 | Truncal ataxia | |
| HP:0000020 | Urinary incontinence | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23228021[PMID]_20301507[PMID]_19690088[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263487
- This record as JSON: /data/d/263487.json