Details of Disease

General Information of Disease (ID: DISFU9CC)

Disease Name Structural heart defects and renal anomalies syndrome
Synonyms SHDRA; structural heart defects and renal anomalies syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DISFU9CC: Structural heart defects and renal anomalies syndrome
Disease Identifiers
MONDO ID
MONDO_0044321
UMLS CUI
C4479549
OMIM ID
617478
MedGen ID
1387412

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
TMEM260 OTICII2L Strong Autosomal recessive [1]
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References

1 Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet. 2017 Apr 6;100(4):666-675. doi: 10.1016/j.ajhg.2017.02.007. Epub 2017 Mar 16.