Details of Disease

General Information of Disease (ID: DISJIY0R)

Disease Name Holoprosencephaly 4
Synonyms holoprosencephaly caused by mutation in TGIF1; holoprosencephaly 4; TGIF1 holoprosencephaly; HPE4; holoprosencephaly type 4
Definition A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.
Disease Hierarchy
DISR35EC: Holoprosencephaly
DISJIY0R: Holoprosencephaly 4
Disease Identifiers
MONDO ID
MONDO_0007734
MESH ID
C564180
UMLS CUI
C1840528
OMIM ID
142946
MedGen ID
374488

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
TGIF1 OTN9VHAG Strong Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.