Tracheo-esophageal fistula - hypospadias

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 2042
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic respiratory malformation
 -Rare genetic disease
Larynx anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Nonsyndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare surgical thoracic disease
Respiratory malformation
 -Rare respiratory disease
Syndromic respiratory or mediastinal malformation
 -Rare developmental defect during embryogenesis
 -Rare surgical thoracic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease
Tracheal anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
2
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
3
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
4
 (HPO:0100867) Duodenal stenosis Frequent [Orphanet] 29 / 7739
5
 (HPO:0002575) Tracheoesophageal fistula Frequent [Orphanet] 54 / 7739
6
 (HPO:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
7
 (HPO:0005242) Extrahepatic biliary duct atresia Occasional [Orphanet] 9 / 7739
8
 (HPO:0012090) Abnormality of pancreas morphology Occasional [Orphanet] 31 / 7739
9
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: