Surfactant Metabolism Dysfunction, Pulmonary, 2 (SMDP2)

Alias:
Interstitial Lung Disease Due to Surfactant Protein C Deficiency
Desquamative Interstitial Pneumonitis Due to Surfactant Protein C Deficiency
Smdp2
Chronic Respiratory Distress with Surfactant Metabolism Deficiency
Surfactant Metabolism Dysfunction, Pulmonary, Type 2
Interstitial Lung Disease Due to Sp-C Deficiency
Pulmonary Alveolar Proteinosis, Congenital, 2
Pulmonary Surfactant Metabolism Dysfunction 2
Congenital Pulmonary Alveolar Proteinosis 2
Pap
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Surfactant Metabolism Dysfunction, Pulmonary, 2, also known as interstitial lung disease due to surfactant protein c deficiency, is related to surfactant metabolism dysfunction, pulmonary, 4 and pulmonary alveolar proteinosis, acquired, and has symptoms including cyanosis, dyspnea and respiratory distress. An important gene associated with Surfactant Metabolism Dysfunction, Pulmonary, 2 is SFTPC (Surfactant Protein C). Affiliated tissues include lung and respiratory system-lung, and related phenotypes are respiratory insufficiency and recurrent pneumonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
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2
25
17

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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Phase
No data available

Disease Model

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

References Literature

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