Details of Disease

General Information of Disease (ID: DISU3FEX)

Disease Name Holoprosencephaly 7
Synonyms holoprosencephaly type 7; holoprosencephaly caused by mutation in PTCH1; holoprosencephaly 7; PTCH1 holoprosencephaly; HPE7
Definition Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.
Disease Hierarchy
DISR35EC: Holoprosencephaly
DISU3FEX: Holoprosencephaly 7
Disease Identifiers
MONDO ID
MONDO_0012562
UMLS CUI
C1835820
OMIM ID
610828
MedGen ID
372134

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
PTCH1 OTMG07H5 Definitive Autosomal dominant [1]
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References

1 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. Am J Med Genet A. 2006 Dec 1;140(23):2584-6. doi: 10.1002/ajmg.a.31369.