GM1 gangliosidosis type 1
ORPHA: 79255
Overview
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations
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 GM1 gangliosidosis type 1, sourced from HPO and Orphanet clinical annotations.
Broad nasal tipPectus carinatumPlatyspondylyHirsutismThickened skinBroad metacarpalsSeizureHydrops fetalisDecreased beta-galactosidase activityHearing impairmentBlindnessAbnormality of the nervous systemAbnormality of the skeletal systemIntellectual disabilityGlobal developmental delayHepatosplenomegalyAbnormal facial shapeDevelopmental regressionUrinary glycosaminoglycan excretionFloppy infantIncreased urinary galactosylated oligosaccharideDysostosis multiplexSpasticityCardiomyopathyExaggerated startle responseDiffuse cerebral atrophySkeletal dysplasiaDiffuse white matter abnormalitiesCherry red spot of the maculaAspiration pneumoniaT2 hypointense basal gangliaMacroglossiaGingival overgrowthLong philtrumLow-set earsMacrotiaFrontal bossingThickened calvariaLarge sella turcicaFlared iliac wingShort long boneBeaking of vertebral bodies T12-L3Depressed nasal bridgeBroad long bone diaphysesHypoplastic vertebral bodiesAcetabular dysplasiaFlattened femoral headFeeding difficultiesSpatulate ribsDecerebrate rigidityAbnormal placenta morphologyAbnormal odontoid tissue morphologyIntrauterine growth retardation
Classification & Codes
Orphanet Code
ORPHA:79255GM1 gangliosidosis type 1
| Orphanet | ORPHA:79255 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO