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GENATLAS PHENOTYPE
last update : 10-05-2017
Symbol CRDS
Location 14q22.3
Name cardio-reno-digital syndrome
Corresponding gene TMEM260
Main clinical features
  • central nervous system (CNS), cardiac, renal, and digit abnormalities
  • complex heart defect, renal cysts with persistently elevated creatinine levels, brain abnormalities (agenesis of corpus callosum) and early death
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    mental retardation
    osteo-articular
    kidney and urinary tract
    Type disease
    Remark(s) . the likely molecular cause, homozygous truncating mutations in TMEM260, affect the functions of one of the two established isoforms transcribed from this locus, thereby demonstrating the necessity of the long isoform for the development of multiple tissues (PMID: 28318500))