Details of Disease | DrugMAP

General Information of Disease (ID: DISO3NHV)

Disease Name	Ebstein anomaly
Synonyms	Ebstein's malformation; Ebstein malformation; Ebstein anomaly (disease); Ebstein anomaly; Ebstein's anomaly of right atrioventricular valve; Ebstein's anomaly of tricuspid valve; Ebstein's anomaly of common atrioventricular valve; Ebstein's anomaly; Ebstein's anomaly (disorder) [ambiguous]; Ebstein anomaly of the tricuspid valve
Definition	Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.
Disease Hierarchy	DIS2ANVO: Congenital tricuspid malformation DISO3NHV: Ebstein anomaly
Disease Identifiers	MONDO ID MONDO_0009144 MESH ID D004437 UMLS CUI C0013481 OMIM ID 224700 MedGen ID 4435 HPO ID HP:0010316 Orphanet ID 1880 SNOMED CT ID 204357006

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
MYH7	TTNIMDP	Limited	Genetic Variation	[1]
MYH7	TTNIMDP	Supportive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH7	OT4Z9T8N	Supportive	Autosomal dominant	[2]
NKX2-5	OTS1SAWM	Strong	Genetic Variation	[3]
NONO	OTN36Q6U	Strong	Biomarker	[4]
TPM1	OTD73X6R	Strong	Genetic Variation	[1]
------------------------------------------------------------------------------------

References

1	Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.Eur J Med Genet. 2018 Jan;61(1):8-10. doi: 10.1016/j.ejmg.2017.10.003. Epub 2017 Oct 9.
2	Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. Am J Med Genet A. 2013 Dec;161A(12):3187-90. doi: 10.1002/ajmg.a.36182. Epub 2013 Aug 16.
3	Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.Am J Med Genet A. 2006 Mar 1;140(5):427-33. doi: 10.1002/ajmg.a.31087.
4	Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.Am J Med Genet A. 2019 May;179(5):792-796. doi: 10.1002/ajmg.a.61091. Epub 2019 Feb 17.