CCDC115-CDG
Synonyms: CDG syndrome type IIo · CDG-IIo · CDG2O · Carbohydrate deficient glycoprotein syndrome type IIo · Congenital disorder of glycosylation type 2o · Congenital disorder of glycosylation type IIo
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital disorder of glycosylation characterized by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia, and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolemia, and low serum ceruloplasmin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CCDC115-CDG | CDG syndrome type IIo · CDG-IIo · CDG2O · Carbohydrate deficient glycoprotein syndrome type IIo · Congenital disorder of glycosylation type 2o · Congenital disorder of glycosylation type IIo |
| fr | CCDC115-CDG | Anomalie congénitale de la glycosylation type 2o · Anomalie congénitale de la glycosylation type IIo · CDG-IIo · CDG2O · Syndrome CDG type IIo · Syndrome des glycoprotéines déficientes en hydrates de carbone IIo |
| de | CCDC115-CDG | CDG (Congenital Disorder of Glycosylation) Typ IIo · CDG-IIo · CDG-Syndrom Typ IIo · CDG2o · Kohlenhydrat-defizientes Glykoprotein-Syndrom 2o · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIo |
| es | CCDC115-CDG | CDG-IIo · CDG2o · Síndrome CDG tipo IIo · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIo · Trastorno congénito de la glicosilación tipo 2o · Trastorno congénito de la glicosilación tipo IIo |
| it | CCDC115-CDG | |
| nl | CCDC115-CDG | CDG-IIo · CDG-syndroom type IIo · CDG2O · Congenitale defecten van de glycosylering type 2o · Congenitale defecten van de glycosylering type IIo · Congenitale glycosylatiestoornis type 2o · Congenitale glycosylatiestoornis type IIo |
| pt | CCDC115-CDG | CDG-IIo · CDG2O · Doença congénita da glicosilação tipo 2o · Doença congénita da glicosilação tipo IIo · Síndrome CDG tipo IIo · Síndrome de glicoproteína deficiente em carbohidratos tipo IIo |
| pl | CCDC115-CDG | CDG2O · CDG-IIo · Zespół CDG typu IIo · Wrodzone zaburzenie glikozylacji typu 2o · Wrodzone zaburzenie glikozylacji typu IIo · Zespół obniżonej glikozylacji glikoprotein typu IIo |
| cs | CCDC115-CDG | CDG2O · CDG-IIo · CDG syndrome type IIo · Congenital disorder of glycosylation type 2o · Congenital disorder of glycosylation type IIo · Carbohydrate deficient glycoprotein syndrome type IIo · CDG syndrom typ IIo · Vrozená porucha glykosylace typ 2o · Vrozená porucha glykosylace typ IIo · Glykoproteinový syndrom deficitu sacharidů typu IIo |
| uk | CCDC115-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIo · Синдром CDG, тип IIo · CDG2O · CDG-IIo · Вроджене порушення глікозилювання типу 2o · Вроджене порушення глікозилювання типу IIo |
| zh | IIo型先天性糖基化疾病 | 碳水化合物缺乏糖蛋白综合征llo型 |
| tr | CCDC115-CDG | CDG2O · CDG-IIo · CDG sendromu tip IIo · Tip 2o glikozilasyonun doğumsal bozukluğu · Tip IIo glikozilasyonun doğumsal bozukluğu · Karbonhidrat eksikliği glikoprotein sendromu tip IIo |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616828 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.2 | NTBT | attributed | validated |
| MONDO | 0014789 | E | validated | |
| UMLS | C4225191 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309526Disorder of multiple glycosylation
rare inborn errors of metabolism; rare genetic diseases - ORPHA:477811Rare hypercholesterolemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VMA22 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28178 | ENSG00000136710 | 613734 | 2q21.1 | vacuolar ATPase assembly factor VMA22 | 26833332[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 26833332[PMID]_26833330[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26833332[PMID]_26833330[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468684
- This record as JSON: /data/d/468684.json