Details of Disease

General Information of Disease (ID: DIS30DT4)

Disease Name Holoprosencephaly 14
Synonyms holoprosencephaly 14; HPE14
Disease Hierarchy
DISR35EC: Holoprosencephaly
DIS30DT4: Holoprosencephaly 14
Disease Identifiers
MONDO ID
MONDO_0030886
UMLS CUI
C5676994
OMIM ID
619895
MedGen ID
1811868

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLCH1 OT6Z1L2E Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly. J Med Genet. 2022 Apr;59(4):358-365. doi: 10.1136/jmedgenet-2020-107237. Epub 2021 Apr 5.