CHTD2
MCID: CNG511
MIFTS: 26
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Congenital Heart Defects, Multiple Types, 2 (CHTD2)
Categories:
Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Congenital Heart Defects, Multiple Types, 2:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
fatigue variable cardiac phenotype facial dysmorphism variably present skeletal features have been noted in 1 family Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Cardiovascular diseases Respiratory diseases Mental diseases |
OMIM®: 57 Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018). For a discussion of genetic heterogeneity of CHTD, see 306955. (614980) (Updated 08-Dec-2022) MalaCards based summary: Congenital Heart Defects, Multiple Types, 2, is also known as chtd2. An important gene associated with Congenital Heart Defects, Multiple Types, 2 is TAB2 (TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2). Affiliated tissues include heart and skin, and related phenotypes are bicuspid aortic valve and tetralogy of fallot UniProtKB/Swiss-Prot: 73 A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. |
Diseases in the Heart Disease family: |
Human phenotypes related to Congenital Heart Defects, Multiple Types, 2:30 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614980 (Updated 08-Dec-2022) |
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Organs/tissues related to Congenital Heart Defects, Multiple Types, 2:
MalaCards :
Heart,
Skin
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Articles related to Congenital Heart Defects, Multiple Types, 2:
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ClinVar genetic disease variations for Congenital Heart Defects, Multiple Types, 2:5 (show all 19)
UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Multiple Types, 2:73
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Search
GEO
for disease gene expression data for Congenital Heart Defects, Multiple Types, 2.
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