Details of Disease

General Information of Disease (ID: DIS3YBB9)

Disease Name Polyvalvular heart disease syndrome
Synonyms PHD syndrome
Definition Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DISVO1I5: Cardiac disease
DIS3YBB9: Polyvalvular heart disease syndrome
Disease Identifiers
MONDO ID
MONDO_0016460
UMLS CUI
C4509918
MedGen ID
1376905
Orphanet ID
228410
SNOMED CT ID
723448007

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
TAB2 OTPZK76F Supportive Autosomal dominant [1]
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References

1 A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. 2018 Jan;93(1):126-133. doi: 10.1111/cge.13032. Epub 2017 Aug 21.