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GENATLAS PHENOTYPE
last update : 30-09-2020
Symbol MUL
Location 17q23.2
Name Mulibrey nanism
Other name(s)
  • Perheentupa syndrome
  • pericardial constriction and growth failure
    • Corresponding gene TRIM37
    Main clinical features
  • muscle, liver, brain, eye, nanism
  • growth failure evident at birth and progressive with triangular face often with hydrocephaloid skull, gracility and muscular hypotonia, peculiar voice, enlarged liver, raised venous pressure due to pericardial constriction (a regular feature), and yellowish dots and pigment dispersion in the ocular fundi often associated to cutaneous nevi flammei, to cystic dysplasia of the tibia, to insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor
    • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    eye
    Type disease
    Gene product
    Name tripartite motif containing 37 with the major Finnish mutation compromising its peroxisomal location
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein resulting in degradation of the mRNA through non-sense-mediated decay
    Remark(s)