| H01241 | |
| H number | H01241 |
| Name | Congenital diaphragmatic hernia |
| Description | Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific pathways and genes play a role in the development of CDH. It has been reported that a patient who has nonsense mutation in FOG2/ ZFPM2, died at birth with a diaphragmatic defect and severe pulmonary hypoplasia. |
| Category | Congenital malformation |
| Network | - |
| Gene | ZFPM2 [HSA:23414] [KO:K17442] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB00.0 ICD-10: Q79.0 MeSH: C538080 OMIM: 610187 |
| Reference | PMID:17436238 AUTHORS Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA TITLE Genetic factors in congenital diaphragmatic hernia. JOURNAL Am J Hum Genet 80:825-45 (2007) DOI:10.1086/513442 PMID:16103912 AUTHORS Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR TITLE Fog2 is required for normal diaphragm and lung development in mice and humans. JOURNAL PLoS Genet 1:58-65 (2005) DOI:10.1371/journal.pgen.0010010 |