Pericardial and diaphragmatic defect

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 2847
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic developmental defect during embryogenesis
 -Rare genetic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
2
 (HPO:0002021) Pyloric stenosis Frequent [Orphanet] 51 / 7739
3
 (HPO:0001734) Annular pancreas Frequent [Orphanet] 10 / 7739
4
 (HPO:0002575) Tracheoesophageal fistula Frequent [Orphanet] 54 / 7739
5
 (HPO:0002245) Meckel diverticulum Frequent [Orphanet] 12 / 7739
6
 (HPO:0002566) Intestinal malrotation Very frequent [Orphanet] 89 / 7739
7
 (HPO:0000775) Abnormality of the diaphragm Very frequent [Orphanet] 62 / 7739
8
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
9
 (HPO:0001697) Abnormality of the pericardium Very frequent [Orphanet] 52 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: