congenital disorder of glycosylation type Ia
ORPHA: 79318
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital disorder of glycosylation type Ia, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityHigh palateStrabismusUpslanted palpebral fissureWide mouthThin upper lip vermilionLong faceRetrognathiaEpicanthusMandibular prognathiaHypertelorismLong philtrumProminent noseAnteverted naresEsotropiaDelayed speech and language developmentOsteopeniaOsteoporosisSeizureGlobal developmental delayHyporeflexiaCerebellar hypoplasiaPes planusAbnormal facial shapeVomitingKyphoscoliosisInverted nipplesAbnormal subcutaneous fat tissue distributionAxial hypotoniaLipodystrophyProminent foreheadFeeding difficultiesDelayed myelinationLong fingersHypogonadotropic hypogonadismAbnormal renal tubule morphologyProteinuriaNephrotic syndromeAbnormal pinna morphologyMacrotiaProminent nasal bridgeRod-cone dystrophyCataractMyopiaHyperinsulinemiaElevated circulating growth hormone concentrationInsulin resistanceIncreased circulating prolactin concentrationIntellectual disabilityAtaxiaCerebellar vermis hypoplasiaHepatic fibrosisFailure to thrivePericardial effusionReduced factor XI activityFeverReduced antithrombin III activityRespiratory distressEnlarged cisterna magnaMultiple joint contracturesElevated circulating hepatic transaminase concentrationElevated circulating thyroid-stimulating hormone concentrationHypoalbuminemiaMultiple renal cystsDecreased testicular sizePeripheral neuropathyAplasia of the ovaryAbnormality of coordinationAbnormal skeletal morphologyReduced factor IX activityAspiration pneumoniaDecreased circulating thyroxine-binding globulin concentrationHyperplastic labia majoraAbnormal liver parenchyma morphologyPhotoreceptor layer loss on macular OCTPlatyspondylyLymphedemaDandy-Walker malformationHypertrophic cardiomyopathyAngina pectorisPericarditisIntracranial hemorrhageDeep venous thrombosisAnasarcaImpaired antigen-specific responseImpaired neutrophil chemotaxis
Classification & Codes
Orphanet Code
ORPHA:79318congenital disorder of glycosylation type Ia
| Orphanet | ORPHA:79318 |
| Treatments | 0 drug(s) |
| Symptoms on record | 86 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO