Mucolipidosis Ii Alpha/beta (MLII)

Mucolipidosis Ii Alpha/beta(来自ICD-11)
别称:
I-Cell Disease
Mucolipidosis Type Ii
Mucolipidosis Ii
N-Acetylglucosamine 1-Phosphotransferase Deficiency
Mucolipidosis Type Ii Alpha/beta
Inclusion-Cell Disease
Inclusion Cell Disease
Mlii
Icd
Deficiency of N-Acetylglucosamine-1-Phosphotransferase
Mucolipidosis, Type Ii, Alpha/beta
Type Ii Mucolipidosis
Ml Ii Alpha/beta
Mucolipidosis 2
I Cell Disease
Ml Ii
Ml2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucolipidosis Ii Alpha/beta, also known as i-cell disease, is related to mucolipidosis iii gamma and glycoproteinosis. An important gene associated with Mucolipidosis Ii Alpha/beta is GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related phenotypes are coarse facial features and gingival overgrowth
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基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AR
Antenatal
<1/1000000
19
136
106

疾病表征

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MGI
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