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GENATLAS PHENOTYPE
last update : 14/11/2008
Symbol HPE3
Location 7q36.3
HGNC id 5151
Name holoprosencephaly 3
Corresponding gene SHH
Other symbol(s) HLP3
Main clinical features
  • CNS abnormalities range from alobar (single median ventricle) to semilobar (incomplete separation of two ventricles) and lobar (complete separation but continuity across the cortex
  • large clinical spectrum ranging from severe cerebral/facial malformations including cyclopia and cebocephaly, to microforms defined by normal brain MRI in a patient with midline defects such as ocular hypotelorism, midline cleft lip or palate, flat nose or single central maxillary incisor
    • Genetic determination autosomal dominant
    Related entries including solitary median maxillary central incisor (OMIM 147250)
    Function/system disorder congenital malformation
    Type malformation
    Gene product
    Name sonic hedgehog
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function loss of function mutations affecting all regions of the protein
    deletion      
    Remark(s)