Details of Disease

General Information of Disease (ID: DISN7ZB3)

Disease Name Holoprosencephaly 12 with or without pancreatic agenesis
Synonyms HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12; holoprosencephaly 12, with or without pancreatic agenesis
Disease Hierarchy
DISR35EC: Holoprosencephaly
DISN7ZB3: Holoprosencephaly 12 with or without pancreatic agenesis
Disease Identifiers
MONDO ID
MONDO_0032787
UMLS CUI
C5193131
OMIM ID
618500
MedGen ID
1684550

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
CNOT1 OTTEU05F Strong Autosomal dominant [1]
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References

1 A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly. Am J Hum Genet. 2019 May 2;104(5):990-993. doi: 10.1016/j.ajhg.2019.03.017. Epub 2019 Apr 18.