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GENATLAS PHENOTYPE
last update : 13-11-2009
Symbol CHARGE
Location 8q12.2
Name CHARGE syndrome
Other name(s)
  • CHARGE association--coloboma, heart anomaly, choanal atresia, mental retardation, renal abnomalities, genital and ear anomalies
  • Hall-Hittner syndrome
    • Corresponding gene CHD7
    Main clinical features
  • coloboma (iris or choroid with or without microphthalmia), atresia or stenosis of choanae, ear anomalies, hypoplastic semi-circular canals, arhinencephaly, cranial nerves anomalies (facial palsy, dysphagia, sensorineural deafness)
  • genital hypoplasia, congenital cardiovascular malformations, with frequent conotruncal defects and atrioventricular septal defects, cleft lip, tracheooesophageal fistula, characteristic facial features, delayed motor, language, or global development
  • significant hypocalcemia and lymphopenia
    • Genetic determination autosomal recessive
    Related entries . including milder form with only idiopathic hypogonadotropic hypogonadism or Kallmann syndrome
    Function/system disorder congenital malformation
    ear
    eye
    Type MCA/MR
    Gene product
    Name chromodomain helicase DNA binding protein 7
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein mostly truncated mutations
      deletion haploinsufficiency interstitial deletion 8q11.2q13 including CHD7 gene
    frameshift   truncated protein  
    Remark(s)
    Genotype/Phenotype correlations cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation