Infant acute respiratory distress syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
RDS OF PREMATURITY HYALINE MEMBRANE DISEASE, FORMERLY Hyaline membrane disease Infant ARDS Neonatal respiratory distress syndrome Infant respiratory distress syndrome |
Number of Symptoms | 13 |
OrphanetNr: | 70587 |
OMIM Id: |
267450
|
ICD-10: |
P22.0 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | > 10 of 100 000 [Orphanet] |
Inheritance: |
Not applicable [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
-Rare respiratory disease |
Symptom Information:
|
(HPO:0001622) | Premature birth | 100 / 7739 | ||||
|
(HPO:0005521) | Disseminated intravascular coagulation | 5 / 7739 | ||||
|
(HPO:0100598) | Pulmonary edema | 17 / 7739 | ||||
|
(HPO:0000969) | Edema | 117 / 7739 | ||||
|
(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
|
(HPO:0002643) | Neonatal respiratory distress | 22 / 7739 | ||||
|
(HPO:0002789) | Tachypnea | 48 / 7739 | ||||
|
(HPO:0100750) | Atelectasis | 17 / 7739 | ||||
|
(OMIM) | Fibrin-rich alveolar deposits, 'hyaline membranes' | 1 / 7739 | ||||
|
(OMIM) | Premature delivery, less than 37 weeks' gestation | 1 / 7739 | ||||
|
(OMIM) | Respiratory insufficiency, neonatal | 1 / 7739 | ||||
|
(OMIM) | Chest radiographs show diffuse reticulogranular pattern | 1 / 7739 | ||||
|
(OMIM) | Decreased surfactant | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Description: (OMIM) |
Respiratory distress syndrome in the newborn is the main cause of mortality and morbidity in premature infants. RDS is characterized by deficient gas exchange that is caused by diffuse atelectasis and high-permeability lung edema that results in fibrin-rich ... |
Molecular genetics OMIM |
Using a candidate gene approach, Ramet et al. (2000) studied the association between the surfactant protein A1 gene (SFTPA1; 178630) and RDS in Finland. They matched 88 infants with RDS and 88 control infants for degree of prematurity, ... |