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Pyloric stenosis, infantile hypertrophic, 5(IHPS5)

MedGen UID:
390899
•Concept ID:
C2675862
•
Disease or Syndrome
Synonym: IHPS5
 
Monarch Initiative: MONDO:0012922
OMIM®: 612525

Recent clinical studies

Prognosis

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.
Everett KV, Ataliotis P, Chioza BA, Shaw-Smith C, Chung EMK
Pediatr Res 2017 Apr;81(4):632-638. Epub 2016 Nov 17 doi: 10.1038/pr.2016.244. PMID: 27855150

Clinical prediction guides

A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.
Everett KV, Ataliotis P, Chioza BA, Shaw-Smith C, Chung EMK
Pediatr Res 2017 Apr;81(4):632-638. Epub 2016 Nov 17 doi: 10.1038/pr.2016.244. PMID: 27855150

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