Details of Disease

General Information of Disease (ID: DIS1302V)

Disease Name Holoprosencephaly 2
Synonyms holoprosencephaly 2; SIX3 holoprosencephaly; HPE2; holoprosencephaly type 2; holoprosencephaly caused by mutation in SIX3
Definition A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.
Disease Hierarchy
DISR35EC: Holoprosencephaly
DIS1302V: Holoprosencephaly 2
Disease Identifiers
MONDO ID
MONDO_0007999
MESH ID
C563579
UMLS CUI
C1834877
OMIM ID
157170
MedGen ID
322517

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
SIX3 OTP5E3VU Definitive Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.