ORPHA:79333
COG7-CDG
Synonyms: CDG syndrome type IIe · CDG-IIe · CDG2E · Carbohydrate deficient glycoprotein syndrome type IIe · Congenital disorder of glycosylation type 2e · Congenital disorder of glycosylation type IIe
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | COG7-CDG | CDG syndrome type IIe · CDG-IIe · CDG2E · Carbohydrate deficient glycoprotein syndrome type IIe · Congenital disorder of glycosylation type 2e · Congenital disorder of glycosylation type IIe |
| fr | COG7-CDG | Anomalie congénitale de la glycosylation type 2e · Anomalie congénitale de la glycosylation type IIe · CDG-IIe · CDG2E · Syndrome CDG type IIe · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIe |
| de | COG7-CDG | CDG-IIe · CDG-Syndrom Typ IIe · CDG2E · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIe · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIe |
| es | COG7-CDG | CDG-IIe · CDG2E · Síndrome CDG tipo IIe · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIe · Trastorno congénito de la glicosilación tipo 2e · Trastorno congénito de la glicosilación tipo IIe |
| it | COG7-CDG | CDG-IIe · CDG2E · Disturbo congenito della glicosilazione, tipo 2e · Disturbo congenito della glicosilazione, tipo IIe · Sindrome CDG, tipo IIe · Sindrome delle glicoproteine carenti in carboidrati, tipo IIe |
| nl | COG7-CDG | CDG-IIe · CDG-syndroom type IIe · CDG2E · Congenitale defecten van de glycosylering type 2e · Congenitale defecten van de glycosylering type IIe · Congenitale glycosylatiestoornis type 2e · Congenitale glycosylatiestoornis type IIe · Koolhydraatdeficiënt glycoproteïne-syndroom type IIe |
| pt | COG7-CDG | CDG-IIe · CDG2E · Doença congénita da glicosilação tipo 2e · Doença congénita da glicosilação tipo IIe · Síndrome CDG tipo IIe · Síndrome de glicoproteína deficiente em carbohidratos tipo IIe |
| pl | COG7-CDG | CDG2E · CDG-IIe · Wrodzone zaburzenie glikozylacji typu 2e · Wrodzone zaburzenie glikozylacji typu IIe · Zespół CDG typu Iie · Zespół obniżonej glikozylacji glikoprotein IIe |
| cs | COG7-CDG | CDG syndrom, typ IIe · CDG-IIe · CDG2E · Carbohydrate deficient glycoprotein syndrom type IIe · Vrozená porucha glykosylace, typ 2e · Vrozená porucha glykosylace, typ IIe · Syndrom s deficitem karbohydrátového glykoproteinu typ IIe |
| uk | COG7-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIe · Синдром CDG, тип IIe · CDG2E · CDG-IIe · Вроджене порушення глікозилювання типу 2e · Вроджене порушення глікозилювання типу IIe |
| zh | 先天性糖基化障碍2e型 | 糖蛋白缺乏综合征Ⅱe型 |
| tr | COG7-CDG | CDG2E · CDG-IIe · CDG sendromu tip IIe · Glikozilasyon tip 2e'nin doğumsal bozukluğu · Glikozilasyon tip IIe'nin doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIe |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608779 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | index | validated |
| MONDO | 0012118 | E | validated | |
| MeSH | C535754 | E | validated | |
| UMLS | C2931010 | E | validated | |
| GARD | 9842 | 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 (6):
- ORPHA:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:371200Congenital disorder of glycosylation with skin involvement
rare genetic diseases; rare skin 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 |
|---|---|---|---|---|---|---|---|---|
| COG7 | Disease-causing germline mutation(s) in | Assessed | HGNC:18622 | ENSG00000168434 | 606978 | 16p12.2 | component of oligomeric golgi complex 7 | 20301507[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 19577670[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19577670[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
33 annotations · validated 2021-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012444 | Brain atrophy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001252 | Hypotonia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001954 | Recurrent fever | |
| HP:0002719 | Recurrent infections | |
| HP:0012301 | Type II transferrin isoform profile | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0001284 | Areflexia | |
| HP:0002014 | Diarrhea | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0002240 | Hepatomegaly | |
| HP:0001265 | Hyporeflexia | |
| HP:0000952 | Jaundice | |
| HP:0011451 | Primary microcephaly | |
| HP:0000253 | Progressive microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0100807 | Long fingers | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000278 | Retrognathia | |
| HP:0000470 | Short neck | |
| HP:0012157 | Subcortical cerebral atrophy | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 19577670[PMID]_20301507[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79333
- This record as JSON: /data/d/79333.json