ORPHA:695110
MAN2B2-CDG
Synonyms: Carbohydrate deficient glycoprotein syndrome due to MAN2B2 · MAN2B2-congenital disorder of glycosylation · Mannosidase alpha class 2B member 2-congenital disorder of glycosylation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MAN2B2-CDG | Carbohydrate deficient glycoprotein syndrome due to MAN2B2 · MAN2B2-congenital disorder of glycosylation · Mannosidase alpha class 2B member 2-congenital disorder of glycosylation |
| fr | MAN2B2-CDG | Anomalie congénitale de la glycosylation par déficit en MAN2B2 · Anomalie congénitale de la glycosylation par déficit en protéine Mannosidase alpha class 2B member 2 · Syndrome des glycoprotéines déficientes en hydrate de carbone par déficit en MAN2B2 |
| de | MAN2B2-CDG | Alpha-1,6-Mannosidase-Mangel · CDG-1EE · CDG-Syndrom Typ 1EE · Kohlenhydrat-defizientes Glykoprotein-Syndrom 1EE · Kongenitaler Defekt der Glycoproteinbiosynthese Typ 1EE |
| es | MAN2B2-CDG | Síndrome de glicoproteínas deficientes en carbohidratos asociado a MAN2B2 · Trastorno congénito de la glicosilación alfa-manosidasa clase 2B miembro 2 · Trastorno congénito de la glicosilación-MAN2B2 |
| it | MAN2B2-CDG | Sindrome della glicoproteina carente di carboidrati correlata a MAN2B2 · Disturbo congenito della glicosilazione correlato a MAN2B2 · Disturbo congenito della glicosilazione correlato al membro 2 della mannosidasi alfa classe 2B |
| nl | MAN2B2-CDG | Koolhydraatdeficiënt glycoproteïne syndroom door MAN2B2 · MAN2B2-congenitale glycosylatiestoornis · Mannosidase alfa klasse 2B lid 2-congenitale glycosylatiestoornis |
| pt | MAN2B2-CDG | |
| pl | MAN2B2-CDG | = en |
| cs | MAN2B2-CDG | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C54.0 | NTBT | attributed | validated |
E 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 |
|---|---|---|---|---|---|---|---|---|
| MAN2B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29623 | ENSG00000013288 | 618899 | 4p16.1 | mannosidase alpha class 2B member 2 | 35637269[PMID]_31775018[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 38622837[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38622837[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/695110
- This record as JSON: /data/d/695110.json