Holoprosencephaly 1 (HPE1)

Alias:

Arhinencephaly

Cyclopia

Hpe1

Holoprosencephaly, Familial Alobar

Holoprosencephaly-1

Holoprosencephaly

Demyer Sequence

Hpe, Familial

Hpec

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Holoprosencephaly 1, also known as arhinencephaly, is related to holoprosencephaly 8 and holoprosencephaly 6. An important gene associated with Holoprosencephaly 1 is FGF8 (Fibroblast Growth Factor 8), and among its related pathways/superpathways are Gastrulation and Mesodermal commitment pathway. The drugs Doxorubicin and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：HLP023

OMIM：236100