Details of Disease | DrugMAP

General Information of Disease (ID: DIS1FXHU)

Disease Name	Holoprosencephaly 9
Synonyms	holoprosencephaly with microphthalmia and first branchial Arch anomalies; GLI2 holoprosencephaly; holoprosencephaly type 9; holoprosencephaly with microphthalmia and first branchial arch anomalies; pituitary anomalies with holoprosencephaly-like features; holoprosencephaly caused by mutation in GLI2; HPE9; holoprosencephaly 9
Definition	Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.
Disease Hierarchy	DISON1K9: Alobar holoprosencephaly DISR35EC: Holoprosencephaly DISV127W: Microform holoprosencephaly DISVK1YW: Lobar holoprosencephaly DIS1FXHU: Holoprosencephaly 9
Disease Identifiers	MONDO ID MONDO_0012563 MESH ID C563659 UMLS CUI C1835819 OMIM ID 610829 MedGen ID 324369

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLI2	TT045OH	Limited	Biomarker	[1]
GLI2	TT045OH	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLI2	OTIRV97L	Definitive	Autosomal dominant	[2]
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References

1	Role of GLI2 in hypopituitarism phenotype.J Mol Endocrinol. 2015 Jun;54(3):R141-50. doi: 10.1530/JME-15-0009. Epub 2015 Apr 15.
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.