Interstitial Lung and Liver Disease (ILLD)

Alias:
Severe Early-Onset Pulmonary Alveolar Proteinosis Due to Mars Deficiency
Pulmonary Alveolar Proteinosis, Reunion Island
Infantile Liver Failure Syndrome 2
Illd
Hereditary Pulmonary Alveolar Proteinosis with Hepatic Involvement
Pulmonary Alveolar Proteinosis, Reunion Island Type
Infantile Liver Failure Syndrome 2, Formerly
Lung and Liver Disease, Interstitial
Pap, Reunion Island Type
Ilfs2, Formerly
Ilfs2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Interstitial Lung and Liver Disease, also known as severe early-onset pulmonary alveolar proteinosis due to mars deficiency, is related to interstitial lung disease and infantile liver failure syndrome 2. An important gene associated with Interstitial Lung and Liver Disease is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include liver and lung, and related phenotypes are hypothyroidism and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
--
2
9
3

Medical Symptom

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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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