Syndrome |
Further Information
|
Gene
(alias) (Syndrome) |
|
Cardiology
|
Arrthythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) |
|
DSC2
DSG2
DSP
PKP2
TMEM43
|
Atrial Septal Defect with Atrioventricular Block (ASD-AVB) |
|
NKX2-5
|
Dilated
Cardiomyopathy (DCM) |
|
ACTC
LMNA
MYH7
MYBPC3
TNNI3 (cTnI)
TNNT2 (cTnT)
TPM1 |
Early-Onset
Coronary Heart Disease |
|
|
| |
|
See Disease Overview |
| |
|
See Disease Overview |
| |
|
See Disease Overview |
Hypertrophic
Cardiomyopathy (HCM) |
|
ACTC
LAMP2
MYBPC3
MYH7
MYL2
MYL3
PRKAG2
TNNI3 (cTnI)
TNNT2 (cTnT)
TPM1 |
Loeys-Dietz
Syndrome (LDS) |
|
TGFBR1
TGFBR2
|
| |
|
FBN1 |
| |
|
PTPN11
|
Transthyretin Amyloidosis |
|
TTR
|
Thoracic
Aortic Aneurysms and Dissections (TAAD) |
|
FBN1
TGFBR1
TGFBR2
|
|
Gasteroenterology
|
| |
|
|
|
Hematology
|
| |
|
HBB
|
|
Metabolic
|
| |
|
GALT
|
| |
|
ATP7B |
|
Nephrology
|
Renal Cysts and Diabetes Syndrome (RCAD)
|
|
TCF2 (HNF1B)
|
| |
|
VHL
|
|
Oncology
|
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
|
|
|
|
Ophthalmology
|
| |
|
BBS1
BBS2 |
| |
|
VHL
|
|
Pulmonology
|
| |
|
CFTR
|
|
Urology |
Congenital
Bilateral Absence of the Vas Deferens |
|
CFTR
|
| |
| *GeneReviews are expert-authored disease
reviews made available online by GeneTests.org.
|
