Details of Disease

General Information of Disease (ID: DISSDSO9)

Disease Name Holoprosencephaly 3
Synonyms Hlp3; HLP3; holoprosencephaly 3; HPE3; SHH holoprosencephaly; holoprosencephaly caused by mutation in SHH; Shh holoprosencephaly; holoprosencephaly caused by mutation in Shh; holoprosencephaly type 3
Definition Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.
Disease Hierarchy
DISR35EC: Holoprosencephaly
DISSDSO9: Holoprosencephaly 3
Disease Identifiers
MONDO ID
MONDO_0007733
UMLS CUI
C1840529
OMIM ID
142945
MedGen ID
327125

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
SHH TTIENCJ Definitive Autosomal dominant [1]
SHH TTIENCJ Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHH OTOG2BXF Definitive Autosomal dominant [1]
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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 Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.Clin Endocrinol (Oxf). 2013 Mar;78(3):415-23. doi: 10.1111/cen.12000.