Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid aortic valve is typically made of two unequal-sized leaflets, whereas the normal valve is known to have three leaflets.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the circulatory system
Structural developmental anomaly of heart or great vessels
LA8A Congenital anomaly of a ventriculo-arterial valve or adjacent regions
H00554 Aortic valve disease
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H00554 Aortic valve disease
Cellular process
nt06546 IgSF CAM signaling
H00554 Aortic valve disease
Adams-Oliver syndrome (AOS) is a rare condition defined by the combination of aplasia cutis congenita (ACC), characterized by scalp and skull lesions, and transverse limb abnormalities. Mutations in ARHGAP31 (AOS1), RBPJ (AOS3) and NOTCH1 (AOS5) cause autosomal dominant AOS. Mutations in DOCK6 (AOS2) and EOGT (AOS4) result in autosomal recessive AOS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01413 Adams-Oliver syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H01413 Adams-Oliver syndrome
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC
Title
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS
Title
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W
Title
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.