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GENATLAS PHENOTYPE
last update : 11-10-2017
Symbol AMME
Location Xq22.3
Name Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
Corresponding gene AMMECR1 , COL4A5 , ACSL4
Other symbol(s) ATS-MR, AMME-complex
Main clinical features
  • contiguous gene deletion syndrome of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
  • mental retardation and macrocephaly in addition to nephritis and sensorineural hearing loss
    • Genetic determination not applicable
    Prevalence exceptional
    Related entries ATS-DL
    Function/system disorder kidney and urinary tract
    mental retardation
    Type disease
    Gene product
    Name contiguous gene syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   deletion in Xq22.3, comprising several genes including COL4A5, ACSL4 and AMMECR1
    Remark(s)
    Genotype/Phenotype correlations different breakpoints define the ATS-DL syndrome (Alport syndrome and diffuse leiomyomatosis (MIM 308940))