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GM1 gangliosidosis type 1

ORPHA:79255 · Clinical subtype · Subtype of disorder

HPO 表現型（共 54 項）

Obligate (100%)(1)

Decreased beta-galactosidase activityHP:0008166

Very frequent (99-80%)(12)

Abnormal facial shapeHP:0001999
Abnormality of the nervous systemHP:0000707
Abnormality of the skeletal systemHP:0000924
BlindnessHP:0000618
Developmental regressionHP:0002376
Floppy infantHP:0008947
Global developmental delayHP:0001263
Hearing impairmentHP:0000365
HepatosplenomegalyHP:0001433
Increased urinary galactosylated oligosaccharideHP:0410346
Intellectual disabilityHP:0001249
Urinary glycosaminoglycan excretionHP:0003541

Frequent (79-30%)(10)

Aspiration pneumoniaHP:0011951
CardiomyopathyHP:0001638
Cherry red spot of the maculaHP:0010729
Diffuse cerebral atrophyHP:0002506
Diffuse white matter abnormalitiesHP:0007204
Dysostosis multiplexHP:0000943
Exaggerated startle responseHP:0002267
Skeletal dysplasiaHP:0002652
SpasticityHP:0001257
T2 hypointense basal gangliaHP:0012753

Occasional (29-5%)(30)

Abnormal odontoid tissue morphologyHP:3000050
Abnormal placenta morphologyHP:0100767
Acetabular dysplasiaHP:0008807
Beaking of vertebral bodies T12-L3HP:0004562
Broad long bone diaphysesHP:0006371
Broad metacarpalsHP:0001230
Broad nasal tipHP:0000455
Decerebrate rigidityHP:0025013
Depressed nasal bridgeHP:0005280
Feeding difficultiesHP:0011968
Flared iliac wingHP:0002869
Flattened femoral headHP:0008812
Frontal bossingHP:0002007
Gingival overgrowthHP:0000212
HirsutismHP:0001007
Hydrops fetalisHP:0001789
Hypoplastic vertebral bodiesHP:0008479
Large sella turcicaHP:0002690
Long philtrumHP:0000343
Low-set earsHP:0000369
MacroglossiaHP:0000158
MacrotiaHP:0000400
Mongolian blue spotHP:0011369
Pectus carinatumHP:0000768
PlatyspondylyHP:0000926
SeizureHP:0001250
Short long boneHP:0003026
Spatulate ribsHP:0012307
Thickened calvariaHP:0002684
Thickened skinHP:0001072

Very rare (<4-1%)(1)

Intrauterine growth retardationHP:0001511