Surfactant Metabolism Dysfunction, Pulmonary, 3 (SMDP3)

Alias:
Interstitial Lung Disease Due to Abca3 Deficiency
Smdp3
Interstitial Lung Disease Due to Atp-Binding Cassette Subfamily a Member 3 Deficiency
Surfactant Metabolism Dysfunction, Pulmonary, Type 3
Pulmonary Alveolar Proteinosis, Congenital, 3
Pulmonary Surfactant Metabolism Dysfunction 3
Congenital Pulmonary Alveolar Proteinosis 3
Pap
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Surfactant Metabolism Dysfunction, Pulmonary, 3, also known as interstitial lung disease due to abca3 deficiency, is related to surfactant metabolism dysfunction, pulmonary, 4 and pulmonary alveolar proteinosis, acquired, and has symptoms including apnea and dyspnea. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 3 is ABCA3 (ATP Binding Cassette Subfamily A Member 3). Affiliated tissues include lung and respiratory system-lung, and related phenotypes are reticular pattern on pulmonary hrct and ground-glass opacification
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
1
10
34

Medical Symptom

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Categorization
Description
HPO Frequency
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Gene & Mutation

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Related Drugs

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Status
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No data available

Disease Model

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

References Literature

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IF
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