ORPHA:263501
COG4-CDG
Synonyms: CDG syndrome type IIj · CDG-IIj · CDG2J · Carbohydrate deficient glycoprotein syndrome type IIj · Congenital disorder of glycosylation type 2j · Congenital disorder of glycosylation type IIj
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COG4-CDG | CDG syndrome type IIj · CDG-IIj · CDG2J · Carbohydrate deficient glycoprotein syndrome type IIj · Congenital disorder of glycosylation type 2j · Congenital disorder of glycosylation type IIj |
| fr | COG4-CDG | Anomalie congénitale de la glycosylation type 2j · Anomalie congénitale de la glycosylation type IIj · CDG-IIj · CDG2J · Syndrome CDG type IIj · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIj |
| de | COG4-CDG | CDG (Congenital Disorder of Glycosylation) Typ Iij · CDG-IIj · CDG-Syndrom Typ IIj · CDG2J · Kohlenhydrat-defizientes Glykoprotein-Syndrom Iij · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIj |
| es | COG4-CDG | CDG-IIj · CDG2J · Síndrome CDG tipo IIj · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIj · Trastorno congénito de la glicosilación tipo 2j · Trastorno congénito de la glicosilación tipo IIj |
| it | COG4-CDG | CDG-IIj · CDG2J · Disturbo congenito della glicosilazione, tipo IIj · Sindrome CDG, tipo IIj · Sindrome delle glicoproteine carenti in carboidrati, tipo IIj |
| nl | COG4-CDG | Congenitale glycosylatiestoornis type IIj · Koolhydraatdeficiënt glycoproteïne syndroom type IIj · CDG-IIj · CDG-syndroom type IIj · CDG2J · Congenitale defecten van de glycosylering type 2j · Congenitale defecten van de glycosylering type IIj · Congenitale glycosylatiestoornis type 2j |
| pt | SíndromeCDG, tipo IIj | |
| pl | COG4-CDG | CDG2J · CDG-IIj · Zespół CDG typu IIj · Wrodzone zaburzenie glikozylacji typu 2j · Wrodzone zaburzenie glikozylacji typu IIj · Zespół obniżonej glikozylacji glikoprotein typu IIj |
| cs | COG4-CDG | CDG syndrom, typ IIj · CDG IIj · CDG2J · Vrozená porucha glykosylace, typ IIj |
| uk | COG4-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIj · Синдром CDG, тип IIj · CDG2J · CDG-IIj · Вроджене порушення глікозилювання типу 2j · Вроджене порушення глікозилювання типу IIj |
| zh | COG4基因型先天性糖基化障碍 | 糖基化缺陷糖蛋白综合征IIj型 |
| tr | COG4-CDG | CDG2J · CDG-IIj · CDG sendromu tip IIj · Doğumsal glikozilasyon bozukluğu tip 2j · Doğumsal glikozilasyon bozukluğu tip IIj · Karbonhidrat eksikliği olan glikoprotein sendromu tip Iıj |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613489 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0013281 | E | validated | |
| UMLS | C4303552 | E | validated | |
| GARD | 12412 | 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 (4):
- ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371157Congenital disorder of glycosylation with hepatic involvement
rare genetic diseases; rare hepatic 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 |
|---|---|---|---|---|---|---|---|---|
| COG4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18620 | ENSG00000103051 | 606976 | 16q22.1 | component of oligomeric golgi complex 4 | 20301507[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 | 22516080[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
33 annotations · validated 2017-11-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012347 | Abnormal protein N-linked glycosylation | |
| HP:0012358 | Abnormal protein O-linked glycosylation | |
| Frequent (79-30%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001344 | Absent speech | |
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0001394 | Cirrhosis | |
| HP:0011172 | Complex febrile seizure | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0001347 | Hyperreflexia | |
| HP:0002254 | Intermittent diarrhea | |
| HP:0000737 | Irritability | |
| HP:0002509 | Limb hypertonia | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000340 | Sloping forehead | |
| HP:0100874 | Thick hair | |
| HP:0001873 | Thrombocytopenia | |
| HP:0012301 | Type II transferrin isoform profile | |
| Occasional (29-5%) | ||
| HP:0006583 | Fatal liver failure in infancy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0040187 | Neonatal sepsis | |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19494034[PMID]_21185756[PMID]_16356446[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263501
- This record as JSON: /data/d/263501.json