ORPHA:695783
EDEM3-CDG
Synonyms: CDG syndrome type IIv · CDG-IIv · CDG2V · Carbohydrate deficient glycoprotein syndrome type IIv · Congenital disorder of glycosylation type 2v · Congenital disorder of glycosylation type IIv
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EDEM3-CDG | CDG syndrome type IIv · CDG-IIv · CDG2V · Carbohydrate deficient glycoprotein syndrome type IIv · Congenital disorder of glycosylation type 2v · Congenital disorder of glycosylation type IIv |
| fr | EDEM3-CDG | Syndrome des glycoprotéines déficientes en hydrates de carbone type IIv · Anomalie congénitale de la glycosylation type 2v · Anomalie congénitale de la glycosylation type IIv · CDG-IIv · CDG2V · Syndrome CDG type IIv |
| de | EDEM3-CDG | CDG-IIv · CDG-Syndrom Typ IIv · CDG2V · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIv · Kongenitaler Defekt der Glycoproteinbiosynthese Typ 2v |
| es | EDEM3-CDG | CDG-IIv · CDG2V · Síndrome CDG tipo IIv · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIv · Trastorno congénito de la glicosilación tipo 2v · Trastorno congénito de la glicosilación tipo IIv |
| it | EDEM3-CDG | Sindrome CDG tipo IIv · CDG-IIv · CDG2V · Sindrome da glicoproteina carente di carboidrati tipo IIv · Disturbo congenito della glicosilazione tipo 2v · Disturbo congenito della glicosilazione tipo IIv |
| nl | EDEM3-CDG | CDG-IIv · CDG-syndroom type IIv · CDG2V · Congenitale glycosylatiestoornis type 2v · Congenitale glycosylatiestoornis type IIv · Koolhydraatdeficiënt glycoproteïne syndroom type Iiv |
| pt | EDEM3-CDG | |
| pl | EDEM3-CDG | = en |
| cs | EDEM3-CDG | = en |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309347Disorder of protein N-glycosylation
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EDEM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16787 | ENSG00000116406 | 610214 | 1q25.3 | ER degradation enhancing alpha-mannosidase like protein 3 | 34143952[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 34143952[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34143952[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/695783
- This record as JSON: /data/d/695783.json