Details of Disease

General Information of Disease (ID: DISV1Z21)

Disease Name Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Synonyms congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder; CHDFIDD; CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISV1Z21: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Disease Identifiers
MONDO ID
MONDO_0044302
UMLS CUI
C4479246
OMIM ID
617360
MedGen ID
1385307

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
CDK13 TTRIM0E Strong Autosomal dominant [1]
CDK13 TTRIM0E Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDK13 OT3P7JF1 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225.
2 Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13.Front Cell Dev Biol. 2019 Aug 7;7:155. doi: 10.3389/fcell.2019.00155. eCollection 2019.