Neonatal acute respiratory distress with surfactant metabolism deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr: 217563
OMIM Id: 265120
610921
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
 -Rare genetic disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
 (HPO:0001217) Clubbing 39 / 7739
2
 (HPO:0001508) Failure to thrive 454 / 7739
3
 (HPO:0000961) Cyanosis 60 / 7739
4
 (HPO:0002092) Pulmonary hypertension 109 / 7739
5
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
6
 (HPO:0006530) Interstitial pulmonary disease 26 / 7739
7
 (HPO:0002094) Dyspnea 132 / 7739
8
 (HPO:0006517) Alveolar proteinosis 7 / 7739
9
 (HPO:0002789) Tachypnea 48 / 7739
10
 (HPO:0002878) Respiratory failure 57 / 7739
11
 (HPO:0002104) Apnea 106 / 7739
12
 (HPO:0002098) Respiratory distress 75 / 7739
13
 (HPO:0005942) Desquamative interstitial pneumonitis 3 / 7739
14
 (HPO:0001425) Heterogeneous 132 / 7739
15
 (HPO:0003678) Rapidly progressive 33 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: