Mucolipidosis Iv (ML4)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/1000000
26
250
85

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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