Genetics Flashcards
(59 cards)
1
Q
AGXT
A
ar
Primary hyperoxaluria type 1
2
Q
AQP2
A
ar or AD
Nephrogenic DI
3
Q
AVPR2
A
Xl Nephrogenic DI (most common)
4
Q
BBS1-14
A
ar
Bardet-Biedl Syndrome
5
Q
CFTR
A
ADPKD, cystic fibrosis
6
Q
CLC5
A
XL
Dent’s Disease
7
Q
CLCNKA
A
ar
Bartter Syndrome Type 4
8
Q
CLCNKB
A
ar
Bartter Syndrome Type 3 & 4
9
Q
COL4A3 or 4
A
AD/ar
Alports Syndrome
10
Q
COL4A5
A
XL
Alports Syndrome
11
Q
CTNS
A
ar
Cystinosis
12
Q
CYP11B1/2
A
AD
Glucocorticoid-remediable aldosteronism
13
Q
CYP11B1
A
AR
CAH
steroid 11-b hydroxylase deficiency
14
Q
CYP17
A
ar
CAH
steroid 11-a hydroxylase deficiency
15
Q
CYP27B1
A
ar
Vit D Dependent rickets
16
Q
DHCR7
A
Smith-Lemli-Opitz syndrome
17
Q
ELN
A
AD
Williams (almost all are new mutations)
18
Q
EYA1
A
AD
Branchio-Oto-Renal Syndrome
19
Q
FGF23
A
AD
AD Hypophosphatemic rickets
20
Q
FGFR2
A
Apert Syndrome
21
Q
FRAS1
A
Fraser syndrome
22
Q
FSGS1
A
AD
Familial FSGS
23
Q
FSGS2
A
AD
Familial FSGS
24
Q
GRHPR (GLXR)
A
ar
primary hyperoxaluria type 2
25
HSD11B2
ar
| AME
26
JAG1
AD
| Alagille syndrome
27
KCNJ1
ar
| Bartter syndrome type 2
28
LAMB2
ar
| Pierson syndrome
29
LMX1B
AD
| Nail-patella syndrome
30
NPHP1
ar
| Nephronopthisis - juvenile
31
NPHP2
ar
| Nephronopthisis - infantile
32
NPHP3
ar
| Nephronopthisis - adolescent
33
NPHS1
ar
| Finnish type nephrotic syndrome
34
NPHS2
ar
| congenital nephrotic syndrome/FSGS
35
OCRL
xl
| Lowe syndrome
36
PAX2
renal coloboma syndrome
37
PHEX
XL-DOMINANT
| XL hypophosphatemic rickets
38
PKD1
AD
| ADPKD
39
PKD2
AD
| ADPKD
40
PKHD1
ar
ARPKD
Carolis disease
41
PLCE1
Diffuse mesangial sclerosis
42
SCNN1B or G
AD
| Liddles
43
SGLT1
ar
| Familial glucose-galactose malabsorption
44
SGLT2
ar
| Hereditary renal glucosuria
45
SIX1, SIX5
AD
| Branchio-Oto-Renal Syndrome
46
SLC12A1
ar
| Bartter syndrome type 1
47
SLC12A3
ar
| Gitelman Syndrome
48
SLC3A1
ar
| Cystinuria
49
SLC34A3
ar
| Renal phosphate wasting with hypercalciuria
50
SLC7A9
ar
| Cystinuria
51
SMARCAL
ar
| Schimke's immune-osseous dysplasia with FSGS
52
TRPC6
Familial FSGS
53
TSC1
AD
| Tuberous sclerosis
54
TSC2
AD
| Tuberous sclerosis
55
UMOD
AD
| Medullary cystic kidney disease type 2
56
VDR
ar
| Vit D dependent rickets type 2
57
VHL
AD
| von Hippel-Lindau disease
58
WNK1 or 4
AD
| Type 2 pseudohypoaldosteronism (Gordons)
59
WT1
Denys-Drash Syndrome with DMS
