SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4

General Information (adopted from Orphanet):

Synonyms, Signs: CSF2RA DEFICIENCY
PAP DUE TO CSF2RA DEFICIENCY
PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4
SMDP4
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300770
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002091) Restrictive ventilatory defect 18955570 IBIS 46 / 7739
2
(HPO:0002789) Tachypnea 18955570 IBIS 48 / 7739
3
(HPO:0006517) Alveolar proteinosis 7 / 7739
4
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Martinez-Moczygemba et al. (2008) reported a 4-year-old female with symptoms associated with Turner syndrome and respiratory insufficiency who had been diagnosed with PAP at age 3 years. She had exhibited respiratory failure caused by respiratory syncytial virus pneumonia ...
Molecular genetics OMIM Using flow cytometry, Martinez-Moczygemba et al. (2008) found that CSF2RA was absent on monocytes from the patient they reported with PAP. The patient's mother expressed CSF2RA on all monocytes, whereas the patient's father and sister expressed CSF2RA only ...