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GENATLAS PHENOTYPE
last update : 29-11-2023
Symbol DIH1
Location 15q26.2
HGNC id 2881
Name congenital diaphragmatic hernia and 15q26.1-26.2 deletion
Corresponding gene NR2F2
Other symbol(s) HCDIA, CDH
Main clinical features
  • Bochdalek, Morgagni, and central (septum transversum) diaphragmatic hernia, with hypoplasia of the lung due to decreased thoracic volume resulting in compromised pulmonary capacity and often in neonatal death
    • Genetic determination chromosomal
    Related entries DIH2, CDH1Q
    Function/system disorder respiratory
    Type malformation
    Gene product
    Name the CDH minimal deleted region on 15q26 contains NR2F2 and only eight other known genes
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   terminal or interstitial 15q26 deletion with a critical region of 5Mb
    Remark(s) There is evidence for substantial genetic heterogeneity in CDH.
    Genotype/Phenotype correlations Diaphragmatic hernias can be non-penetrant in patients who have deletions involving CDH-critical regions