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Lipochrome histiocytosis - familial

MedGen UID:
90743
Concept ID:
C0334125
Disease or Syndrome
Synonym: Histiocytosis, Familial Lipochrome
SNOMED CT: Lipochrome histiocytosis - familial (234577004); Lipochrome histiocytosis (28146005)
 
Monarch Initiative: MONDO:0009347
OMIM®: 235900

Clinical features

From HPO
Polyarticular arthritis
MedGen UID:
56408
Concept ID:
C0162323
Disease or Syndrome
Pain and inflammation in more than five joints.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Histiocytosis
MedGen UID:
6845
Concept ID:
C0019618
Neoplastic Process
An excessive number of histiocytes (tissue macrophages).
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Increased circulating antibody concentration
MedGen UID:
1713383
Concept ID:
C5397581
Finding
An increased level of gamma globulin (immunoglobulin) in the blood.
Increased alpha-globulin
MedGen UID:
257902
Concept ID:
C1167806
Finding
An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.

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