Surfactant metabolism dysfunction, pulmonary, 5

Preferred Label : Surfactant metabolism dysfunction, pulmonary, 5;

Symbol : SMDP5;

CISMeF acronym : SMDP5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Csf2rb deficiency; Pap due to csf2rb deficiency; Pulmonary alveolar proteinosis 5;

Description : Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the granulocyte-macrophage colony-stimulating factor receptor, beta (CSF2RB, 138981.0001);

Laboratory abnormalities : Increased serum GM-CSF; Impaired response to GM-CSF;

Prefixed ID : #614370;

Details

Origin ID

614370;

UMLS CUI

C3280574;

Automatic exact mappings (from CISMeF team)
- CSF2RB wt Allele [NCIt concept]
DO Cross reference
- pulmonary alveolar proteinosis [DO Concept]
Genes related to phenotype
- Granulocyte-macrophage colony-stimulating factor receptor, beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dyspnea [HPO term]
- Exertional dyspnea [HPO term]
- Ground-glass opacification [HPO term]
- Interlobular septal thickening [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Respiratory insufficiency [HPO term]
Not associated HPO term(s)
- Anti-granulocyte-macrophage colony stimulating factor antibody positivity [HPO term]
ORDO concept(s)
- Hereditary pulmonary alveolar proteinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hereditary pulmonary alveolar proteinosis [ORDO Disease]

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