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Browse result for Holoprosencephaly

※ introduction

    Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres, typically occurring between the 18th and 28th day of gestation. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. The condition also occurs in other species. Holoprosencephaly is estimated to occur in approximately 1 in every 250 conceptions and most cases are not compatible with life and result in fetal death in utero due to deformities to the skull and brain. However, holoprosencephaly is still estimated to occur in approximately 1 in every 8,000 live births. When the embryo's forebrain does not divide to form bilateral cerebral hemispheres (the left and right halves of the brain), it causes defects in the development of the face and in brain structure and function. The severity of holoprosencephaly is highly variable. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip.

Reference
Wiki: Holoprosencephaly



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00696Q154656469
SHH
Sonic hedgehog protein [Cleaved into: Sonic hedgehog protein N-product ]
Homo sapiens
PTMD01254O953436496
SIX3
Homeobox protein SIX3
Homo sapiens
PTMD03137O755938928
FOXH1
Forkhead box protein H1
Homo sapiens
PTMD03435O954097546
ZIC2
Zinc finger protein ZIC 2
Homo sapiens
PTMD06993Q155837050
TGIF1
Homeobox protein TGIF1
Homo sapiens
PTMD07406Q4KMG050937
CDON
Cell adhesion molecule-related/down-regulated by oncogenes
Homo sapiens