Conditions: Genes Flashcards
(22 cards)
Alpha Thalassemia
HBA1, HBA2
Hematologic Conditions
Beta Thalassemia
HBB
Hematologic Conditions
Acute Intermittent Porphyria
HMBS
Involved in the production of heme
Hematologic Conditions
Factor V Leiden Thrombophilia
F5
Hematologic Conditions
Hemophilia A
F8
Hematologic Conditions
Hemophilia B
F9
Hematologic Conditions
HFE-Associated Hereditary Hemochromatosis (HFE-HHC)
HFE
Hematologic Conditions
22q11.2 Deletion Syndrome
DiGeorge
TBX1; DGCR (critical region)
Cardiovascular System
Alagille Syndrome
JAG1, NOTCH2
Cardiovascular System
Brugada Syndrome
SCN5A (15-30%), SCN1B, SCN2B, GPD11, CACNA1C, CACNB2, CACNA2D1, KCND3, CNE3, KCNE1L, KCNJ8, HCN4, RANGRF, SLMAP, TRPM4
Cardiovascular System
Hereditary Hemorrhagic Telangiectasia
ENG (HHT type 1, 39-59%)
ACVRL1 (HHT type 2, 25%-57%)
SMAD4 (HHT w/ juvenile polyposis syndrome, 1-2%)
GDF2 (HHT type 5, <1%)
Cardiovascular System
Holt-Oram Syndrome
TBX5 (70%)
Cardiovascular System
Leopard Syndrome
Noonan Syndrome with Multiple Letigines (NSML)
PTPN11 (90%)
RAF1 (<5%)
BRAF (<5%)
Cardiovascular System
Noonan Syndrome
PTPN11 (50%)
SOS1 (13%)
RAF1 (3-17%)
KRAS (<5%)
NRAS (<1%)
BRAF (<1%)
MAP2K1 (<1%)
Cardiovascular System
Williams Syndrome
Contiguous gene deletion syndrome
ELN is in the critical region called WBSCR
>99% of patients have the same deletion
Cardiovascular System
Hereditary Breast and Ovarian Cancer Syndrome (HBOC)
BRCA1, BRCA2
Cancer Disorders
Familial Adenomatous Polyposis
APC (90%)
Cancer Disorders
Lynch Syndrome
Hereditary Nonpolyposis Colon Cancer
MLH1, MSH2, MSH6, PMS2, EPCAM
Cancer Disorders
Li-Fraumeni Syndrome
TP53
Cancer Disorders
Multiple Endocrine Neoplasia 2 (MEN2)
RET
Cancer Disorders
Neurofibromatosis Type II
NF2
Cancer Disorders
