DISEASES

Disease-gene associations mined from literature

Human genes for holoprosencephaly

Holoprosencephaly [DOID:4621]

Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy. Hox genes, which guide placement of embryonic structures, fail to activate along the midline of the head, allowing structures that are normally paired on the left and right to merge. The condition also occurs in other species, as with Cy, the Cyclops kitten.

Synonyms:  holoprosencephaly,  DOID:4621,  Holoprosencephaly sequence (disorder),  Holoprosencephaly sequence disorder,  Holoprosencephaly sequence

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8 #9 #10 #11 #12 #13