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GENATLAS PHENOTYPE
last update : 22-01-2020
Symbol VACTERL2
Location 11q13.4
Name VATER association (Vertebral defects, Anal atresia, Tracheoesophageal fistula with Esophageal atresia, Renal anomalies and Radial dysplasia) 2
Other name(s) Congenital NAD Deficiency Disorder
Corresponding gene NADSYN1
Other symbol(s) CNDD
Main clinical features
  • renal abnormalities ranging from a mild hyperechoic renal cortex to the complete absence of both kidneys, short proximal long bones or micromelia, cardiac (heart was either hypoplastic due to underdevelopment of the left ventricle or compromised by malformation of the aorta and pulmonary artery) and vertebral abnormalities (vertebral defects included scoliosis with multiple malformed vertebrae and ribs, and segmentation defects of the thoracic, lumbar, and sacral spine)
  • early death
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    cardiovascular
    osteo-articular
    Type disease
    Remark(s) . defects induced by mutation of NADSYN1 may be rescued via NAD precursor-rich dietary supplementation (PMID: 31883644))