ORPHA:79329
MGAT2-CDG
Synonyms: CDG syndrome type IIa · CDG-IIa · CDG2A · Carbohydrate deficient glycoprotein syndrome type IIa · Congenital disorder of glycosylation type 2a · Congenital disorder of glycosylation type IIa · N-acetylglucosaminyltransferase 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of disorder of protein N-glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene <i>MGAT2</i> (14q21).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MGAT2-CDG | CDG syndrome type IIa · CDG-IIa · CDG2A · Carbohydrate deficient glycoprotein syndrome type IIa · Congenital disorder of glycosylation type 2a · Congenital disorder of glycosylation type IIa · N-acetylglucosaminyltransferase 2 deficiency |
| fr | MGAT2-CDG | Anomalie congénitale de la glycosylation type 2a · Anomalie congénitale de la glycosylation type IIa · CDG-IIa · CDG2A · Déficit en N-acétylglucosaminyltransférase 2 · Syndrome CDG type IIa · Syndrome des glycoprotéines déficientes en hydrates de carbone type IIa |
| de | MGAT2-CDG | CDG-IIa · CDG-Syndrom Typ IIa · CDG2A · Kohlenhydrat-defizientes Glykoprotein-Syndrom IIa · Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIa · N-Acetyl-Glukosaminyltransferase 2-Mangel |
| es | MGAT2-CDG | CDG-IIa · CDG2A · Deficiencia de N-acetilglucosaminiltransferasa 2 · Síndrome CDG tipo IIa · Síndrome de glicoproteínas deficientes en carbohidratos tipo IIa · Trastorno congénito de la glicosilación tipo 2a · Trastorno congénito de la glicosilación tipo IIa |
| it | MGAT2-CDG | Disturbo congenito della glicosilazione, tipo IIa · Sindrome CDG, tipo IIa · Sindrome delle glicoproteine carenti in carboidrati, tipo IIa · CDG-IIa · CDG2A · Deficit di N-acetilglucosaminiltransferasi 2 · Disturbo congenito della glicosilazione, tipo 2a |
| nl | MGAT2-CDG | CDG-IIa · CDG-syndroom type IIa · CDG2A · Congenitale defecten van de glycosylering type 2a · Congenitale defecten van de glycosylering type IIa · Congenitale glycosylatiestoornis type 2a · Congenitale glycosylatiestoornis type IIa · Koolhydraatdeficiënt glycoproteïne-syndroom type IIa · N-acetylglucosaminyltransferase 2-deficiëntie |
| pt | MGAT2-CDG | CDG-IIa · CDG2A · Deficiência de N-acetilglucosaminiltransferase 2 · Doença congénita da glicosilação tipo 2a · Doença congénita da glicosilação tipo IIa · Síndrome CDG tipo IIa · Síndrome de glicoproteína deficiente em carbohidratos tipo IIa |
| pl | MGAT2-CDG | CDG2A · CDG-IIa · Niedobór N-acetyloglukozoaminylotransferazy 2 · Wrodzone zaburzenie glikozylacji typu 2a · Wrodzone zaburzenie glikozylacji typu IIa · Zespół CDG typu IIa · Zespół obniżonej glikozylacji glikoprotein typu IIa |
| cs | MGAT2-CDG | CDG syndrom, typ IIa · CDG-IIa · CDG2A · Carbohydrate deficient glycoprotein syndrom type IIa · Vrozená porucha glykosylace, typ 2a · Vrozená porucha glykosylace, typ IIa · Deficit N-acetylglukosaminyltransferázy 2 · Syndrom s deficitem karbohydrátového glykoproteinu typ IIa |
| uk | MGAT2-CDG | Вуглеводно-дефіцитний глікопротеїновий синдром типу IIa · Синдром CDG, тип IIa · CDG2A · CDG-ІІа · Вроджене порушення глікозилювання типу 2а · Вроджене порушення глікозилювання типу IIa · Дефіцит N-ацетилглюкозамінілтрансферази 2 |
| zh | 先天性糖基化障碍2a型 | 碳水化合物缺乏糖蛋白综合征IIa型 |
| tr | MGAT2-CDG | CDG2A · CDG-IIa · CDG sendromu tip IIa · Glikozilasyon tip 2a'nın doğumsal bozukluğu · N-asetilglukozaminiltransferaz 2 eksikliği · Glikozilasyon tip IIa'nın doğumsal bozukluğu · Karbonhidrat eksikliği olan glikoprotein sendromu tip IIa |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212066 | E | validated | |
| ICD-10 | E77.8 | NTBT | attributed | validated |
| ICD-11 | 5C54.0 | NTBT | index | validated |
| MONDO | 0008908 | E | validated | |
| MeSH | C535752 | E | validated | |
| UMLS | C2931008 | E | validated | |
| GARD | 9828 | E | 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 (4):
- ORPHA:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - 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 |
|---|---|---|---|---|---|---|---|---|
| MGAT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7045 | ENSG00000168282 | 602616 | 14q21.3 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | 20301507[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 22105986[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22105986[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.
6
HPO phenotypes
57 annotations · validated 2021-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001263 | Global developmental delay | |
| HP:0003655 | Reduced activity of N-acetylglucosaminyltransferase II | |
| Frequent (79-30%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0001252 | Hypotonia | |
| HP:0000253 | Progressive microcephaly | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0010990 | Abnormality of the common coagulation pathway | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0011675 | Arrhythmia | |
| HP:0001156 | Brachydactyly | |
| HP:0012444 | Brain atrophy | |
| HP:0005387 | Combined immunodeficiency | |
| HP:0000444 | Convex nasal ridge | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0000678 | Dental crowding | |
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002578 | Gastroparesis | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001007 | Hirsutism | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000316 | Hypertelorism | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin | |
| HP:0003540 | Impaired platelet aggregation | |
| HP:0012469 | Infantile spasms | |
| HP:0003186 | Inverted nipples | |
| HP:0002808 | Kyphosis | |
| HP:0000527 | Long eyelashes | |
| HP:0009765 | Low hanging columella | |
| HP:0000194 | Open mouth | |
| HP:0000938 | Osteopenia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000395 | Prominent antihelix | |
| HP:0200117 | Recurrent upper and lower respiratory tract infections | |
| HP:0001929 | Reduced factor XI activity | |
| HP:0500173 | Reflex asystolic syncope | |
| HP:0002098 | Respiratory distress | |
| HP:0002650 | Scoliosis | |
| HP:0012171 | Stereotypical hand wringing | |
| HP:0001629 | Ventricular septal defect | |
| Excluded (0%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 33044030[PMID]_20301507[PMID]_28742265[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79329
- This record as JSON: /data/d/79329.json