Mucolipidosis Iv (ML4)

Mucolipidosis Iv(来自ICD-11)
别称:
Mucolipidosis Type Iv
Sialolipidosis
Ml4
Mliv
Ganglioside Sialidase Deficiency
Type Iv Mucolipidosis
Mucolipidosis Type 4
Mucolipidosis 4
Gangliosidoses
Ml Iv
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucolipidosis Iv, also known as mucolipidosis type iv, is related to lysosomal storage disease and glycoproteinosis, and has symptoms including photophobia An important gene associated with Mucolipidosis Iv is MCOLN1 (Mucolipin TRP Cation Channel 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are intellectual disability and hyperreflexia
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基础信息

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参考文献
MALACARDS
AR
Infant
1-9/100000
26
250
85

疾病表征

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MGI
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