Details of Disease

General Information of Disease (ID: DISE52FL)

Disease Name Left ventricular noncompaction 1
Synonyms
left ventricular noncompaction 1 with or without congenital heart defects; LVNC1; DTNA left ventricular noncompaction; left ventricular noncompaction 1, with or without congenital heart defects; left ventricular noncompaction 1; left ventricular noncompaction type 1; left ventricular noncompaction caused by mutation in DTNA
Definition Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.
Disease Hierarchy
DISJ4QEG: Left ventricular noncompaction
DISE52FL: Left ventricular noncompaction 1
Disease Identifiers
MONDO ID
MONDO_0011403
MESH ID
C565821
UMLS CUI
C1858725
OMIM ID
604169
MedGen ID
349005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A8 DTLPQGT Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DTNA OTVBIRH2 Limited Autosomal dominant [2]
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References

1 Zinc transporter Slc39a8 is essential for cardiac ventricular compaction.J Clin Invest. 2018 Feb 1;128(2):826-833. doi: 10.1172/JCI96993. Epub 2018 Jan 16.
2 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.