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Items: 4

1.

Pulmonary alveolar proteinosis

Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. [from HPO]

MedGen UID:
1763046
Concept ID:
C5400698
Finding
2.

Autoimmune pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. The estimated incidence and prevalence are 0.36 and 3.70 cases per million, respectively (Trapnell et al., 2003; Seymour and Presneill, 2002). Secondary pulmonary alveolar proteinosis develops in association with conditions involving functional impairment or reduced numbers of alveolar macrophages. Such conditions include some hematologic cancers, pharmacologic immunosuppression, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with pulmonary surfactant metabolism dysfunction caused by mutations in genes involved in surfactant metabolism (see, e.g., SMDP1, 265120) (Trapnell et al., 2003). See 300770 for information on congenital PAP due to CSF2RA (306250) deficiency. [from OMIM]

MedGen UID:
410079
Concept ID:
C1970472
Disease or Syndrome
3.

Pituitary adenoma predisposition

MedGen UID:
354959
Concept ID:
C1863340
Finding
4.

Early-onset anterior polar cataract

A polar cataract that affects the anterior pole of the lens. [from HPO]

MedGen UID:
340806
Concept ID:
C1855179
Congenital Abnormality; Finding
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