congenital disorder of glycosylation type IIa
ORPHA: 793291 Treatment Available
Overview
congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| mannose-1-phosphate Orphan Cold Chain | IV infusion (investigational) | Investigational | 4 | 30d |
Clinical Presentation
Signs and symptoms associated with congenital disorder of glycosylation type IIa, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsGlobal developmental delayAbnormal facial shapeReduced level of N-acetylglucosaminyltransferase IIProgressive microcephalySeizureHypotoniaFailure to thriveOpen mouthDolichocephalyHypertelorismAbnormal earlobe morphologyProminent antihelixConvex nasal ridgeDownslanted palpebral fissuresLong eyelashesDental crowdingPectus excavatumAbnormality of the endocrine systemOsteopeniaHirsutismBrachydactylyGeneralized hypotoniaAbnormal heart morphologyVentricular septal defectPatent ductus arteriosusHydrops fetalisAbnormal bleedingReduced factor XI activityAbnormal scalp morphologyGastroesophageal refluxRespiratory distressHypsarrhythmiaHypoplastic nipplesGastroparesisScoliosisKyphosisInverted nipplesImpaired lymphocyte transformation with phytohemagglutininImpaired platelet aggregationDecreased circulating immunoglobulin concentrationDecreased circulating IgG concentrationCombined immunodeficiencyLow hanging columellaAbnormality of the common coagulation pathwayGastrostomy tube feeding in infancyArrhythmiaFeeding difficultiesStereotypical hand wringingBrain atrophyInfantile spasmsDecreased mitogen-induced T-cell proliferationRecurrent upper and lower respiratory tract infectionsReflex asystolic syncope
Classification & Codes
Orphanet Code
ORPHA:79329congenital disorder of glycosylation type IIa
| Orphanet | ORPHA:79329 |
| Treatments | 1 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO