Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 27-03-2009
Symbol RDMP1
Location 1p34.2
Name restrictive dermopathy, lethal 1
Other name(s)
  • hyperkeratosis-contracture syndrome
  • restrictive dermopathy, lethal
  • fetal hypokinesia sequence due to restrictive dermopathy
  • Corresponding gene ZMPSTE24
    Main clinical features
  • tight skin contracture syndrome, severe intrauterine growth retardation, congenital contractures, and tense skin that was easily eroded and drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and ectropion without organ malformations, the skin showed hyperkeratosis and a disorder of skin differentiation
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    dermatology
    Type disease
    Gene product
    Name zinc metalloproteinase (STE24 homolog, yeast)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein 1bp insertion in exon 9, protein lacking the the seventh TM domain involved in the protease catalytic action and an inactive form of LMNA and its mislocalization
    Remark(s)