ORPHA:95428
COG8-CDG
Synonyms: CDG syndrome type IIh · CDG-IIh · CDG2H · Carbohydrate deficient glycoprotein syndrome type IIh · Congenital disorder of glycosylation type 2h · Congenital disorder of glycosylation type IIh
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COG8-CDG | CDG syndrome type IIh · CDG-IIh · CDG2H · Carbohydrate deficient glycoprotein syndrome type IIh · Congenital disorder of glycosylation type 2h · Congenital disorder of glycosylation type IIh |
| fr | COG8-CDG | Anomalie congénitale de la glycosylation type 2h · Anomalie congénitale de la glycosylation type IIh · CDG-IIh · CDG2H · Syndrome CDG type IIh · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIh |
| de | COG8-CDG | CDG-IIh · CDG-Syndrom Typ IIh · CDG2H · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIh · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIh |
| es | COG8-CDG | CDG-IIh · CDG2H · Síndrome CDG tipo IIh · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIh · Trastorno congénito de la glicosilación tipo 2h · Trastorno congénito de la glicosilación tipo IIh |
| it | COG8-CDG | CDG-IIh · CDG2H · Disturbo congenito della glicosilazione, tipo 2h · Disturbo congenito della glicosilazione, tipo IIh · Sindrome CDG, tipo IIh · Sindrome delle glicoproteine carenti in carboidrati, tipo IIh |
| nl | COG8-CDG | CDG-IIh · CDG-syndroom type IIh · CDG2H · Congenitale defecten van de glycosylering type 2h · Congenitale defecten van de glycosylering type IIh · Congenitale glycosylatiestoornis type 2h · Congenitale glycosylatiestoornis type IIh · Koolhydraatdeficiënt glycoproteïne syndroom type IIh |
| pt | Síndrome dos CDG tipo IIh | |
| pl | COG8-CDG | CDG2H · CDG-IIh · Wrodzone zaburzenia glikozylacji typu 2h · Wrodzone zaburzenia glikozylacji typu IIh · Zespół CDG typu IIh · Zespół obniżonej glikozylacji glikoprotein typu IIh |
| cs | CDG syndrom, typ IIh | COG8-CDG · CDG-IIh · CDG2H |
| uk | COG8-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIh · Синдром CDG, тип IIh · CDG2H · CDG-IIh · Вроджене порушення глікозилювання типу 2h · Вроджене порушення глікозилювання типу IIh |
| zh | 2h型先天性糖基化障碍 | 碳水化合物缺乏糖蛋白综合征IIh型 |
| tr | COG8-CDG | CDG2H · CDG-IIh · CDG sendromu tip IIh · Doğumsal glikozilasyon bozukluğu tip 2h · Doğumsal glikozilasyon bozukluğu tip IIh · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIh |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611182 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0012635 | E | validated | |
| MeSH | C566987 | E | validated | |
| UMLS | C1970021 | E | validated | |
| GARD | 12411 | 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:371071Congenital disorder of glycosylation with epilepsy as a major feature
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 |
|---|---|---|---|---|---|---|---|---|
| COG8 | Disease-causing germline mutation(s) in | Assessed | HGNC:18623 | ENSG00000213380 | 606979 | 16q22.1 | component of oligomeric golgi complex 8 | 17331980[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17331980[PMID]_17220172[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17331980[PMID]_17220172[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
24 annotations · validated 2019-09-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0007267 | Chronic axonal neuropathy | |
| HP:0002376 | Developmental regression | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0012537 | Food intolerance | |
| HP:0001249 | Intellectual disability | |
| HP:0002421 | Poor head control | |
| HP:0002465 | Poor speech | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0006846 | Acute encephalopathy | |
| HP:0001137 | Alternating esotropia | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001943 | Hypoglycemia | |
| HP:0001336 | Myoclonus | |
| HP:0000253 | Progressive microcephaly | |
| HP:0008151 | Prolonged prothrombin time | |
| HP:0007420 | Spontaneous hematomas | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 17220172[PMID]_17331980[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95428
- This record as JSON: /data/d/95428.json