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Items: 11

1.

Pulmonary Surfactant Metabolism Dysfunction

MedGen UID:
777976
Concept ID:
C3711368
Disease or Syndrome
2.

Abnormality of the lung

MedGen UID:
807349
Concept ID:
CN218444
Finding
3.

Interstitial pulmonary disease

Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. [from HPO]

MedGen UID:
425829
Concept ID:
CN005688
Finding
4.

Interstitial pulmonary disease

Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis. Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. Specific types include. -Black lung disease among coal miners, from inhaling coal dust. -Farmer's lung, from inhaling farm dust. -Asbestosis, from inhaling asbestos fibers. -Siderosis, from inhaling iron from mines or welding fumes. -Silicosis, from inhaling silica dust. Other causes include autoimmune diseases or occupational exposures to molds, gases, or fumes. Some types of interstitial lung disease have no known cause. Treatment depends on the type of exposure and the stage of the disease. It may involve medicines, oxygen therapy, or a lung transplant in severe cases.  [from MedlinePlus]

MedGen UID:
60064
Concept ID:
C0206062
Disease or Syndrome
5.

Disorder of lung

When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health.  [from MedlinePlus]

MedGen UID:
7399
Concept ID:
C0024115
Disease or Syndrome
6.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
7.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
8.

Inherited lung disorders

MedGen UID:
472867
Concept ID:
CN163264
Disease or Syndrome
9.

Surfactant metabolism dysfunction, pulmonary, 2

Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [from OMIM]

MedGen UID:
410078
Concept ID:
C1970470
Disease or Syndrome
10.

Surfactant metabolism dysfunction, pulmonary, 4

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (138960) expression. Acquired PAP (610910), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (138960) (Martinez-Moczygemba et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [from OMIM]

MedGen UID:
393858
Concept ID:
C2677877
Disease or Syndrome
11.

Surfactant metabolism dysfunction, pulmonary, 1

Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005). A clinically similar disorder characterized by respiratory distress (267450) can affect preterm infants, who show developmental deficiency of surfactant. Acquired PAP (610910) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (138960). Genetic Heterogeneity of Pulmonary Surfactant Metabolism Dysfunction See also SMDP2 (610913), caused by mutation in the SPTPC gene (178620) on 8p21; SMDP3 (610921), caused by mutation in the ABCA3 gene (601615) on 16p13; SMDP4 (300770), caused by mutation in the CSF2RA gene (306250) on Xp; and SMDP5 (614370), caused by mutation in the CSF2RB gene (138981) on 22q12. [from OMIM]

MedGen UID:
368844
Concept ID:
C1968602
Disease or Syndrome
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