Infantile Liver Failure Syndrome 1 (ILFS1)

Alias:
Ilfs1
Liver Failure Syndrome, Infantile, Type 1
Liver Failure
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Infantile Liver Failure Syndrome 1, also known as ilfs1, is related to infantile liver failure syndrome and infantile liver failure syndrome 2, and has symptoms including seizures An important gene associated with Infantile Liver Failure Syndrome 1 is LARS1 (Leucyl-TRNA Synthetase 1), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and tRNA Aminoacylation. The drugs Dopamine and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include liver and bone marrow, and related phenotypes are frontal bossing and sensorineural hearing impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
2
11
6

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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