Details of Disease

General Information of Disease (ID: DIS2AK05)

Disease Name Holoprosencephaly 5
Synonyms holoprosencephaly caused by mutation in ZIC2; holoprosencephaly type 5; ZIC2 holoprosencephaly; holoprosencephaly 5; HPE5
Definition Holoprosencephaly associated with mutations in the ZIC2 gene.
Disease Hierarchy
DISON1K9: Alobar holoprosencephaly
DISR35EC: Holoprosencephaly
DISV127W: Microform holoprosencephaly
DISVK1YW: Lobar holoprosencephaly
DIS2AK05: Holoprosencephaly 5
Disease Identifiers
MONDO ID
MONDO_0012322
UMLS CUI
C1864827
OMIM ID
609637
MedGen ID
355304

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ZIC2 OTZ97UI5 Definitive Autosomal dominant [1]
DISP1 OTLDFZSY Limited Autosomal dominant [2]
SIX3 OTP5E3VU Definitive Autosomal dominant [3]
TGIF1 OTN9VHAG Definitive Autosomal dominant [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 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.
3 Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet. 1999 Jun;22(2):196-8. doi: 10.1038/9718.