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Pediatric Nephrology Boards > Genetics > Flashcards

Genetics Flashcards

1
Q

AGXT

A

ar

Primary hyperoxaluria type 1

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2
Q

AQP2

A

ar or AD

Nephrogenic DI

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3
Q

AVPR2

A 
Xl
Nephrogenic DI (most common)
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4
Q

BBS1-14

A

ar

Bardet-Biedl Syndrome

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5
Q

CFTR

A

ADPKD, cystic fibrosis

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6
Q

CLC5

A

XL

Dent’s Disease

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7
Q

CLCNKA

A

ar

Bartter Syndrome Type 4

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8
Q

CLCNKB

A

ar

Bartter Syndrome Type 3 & 4

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9
Q

COL4A3 or 4

A

AD/ar

Alports Syndrome

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10
Q

COL4A5

A

XL

Alports Syndrome

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11
Q

CTNS

A

ar

Cystinosis

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12
Q

CYP11B1/2

A

AD

Glucocorticoid-remediable aldosteronism

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13
Q

CYP11B1

A

AR
CAH
steroid 11-b hydroxylase deficiency

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14
Q

CYP17

A

ar
CAH
steroid 11-a hydroxylase deficiency

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15
Q

CYP27B1

A

ar

Vit D Dependent rickets

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16
Q

DHCR7

A

Smith-Lemli-Opitz syndrome

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17
Q

ELN

A

AD

Williams (almost all are new mutations)

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18
Q

EYA1

A

AD

Branchio-Oto-Renal Syndrome

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19
Q

FGF23

A

AD

AD Hypophosphatemic rickets

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20
Q

FGFR2

A

Apert Syndrome

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21
Q

FRAS1

A

Fraser syndrome

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22
Q

FSGS1

A

AD

Familial FSGS

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23
Q

FSGS2

A

AD

Familial FSGS

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24
Q

GRHPR (GLXR)

A

ar

primary hyperoxaluria type 2

25
Q

HSD11B2

A

ar

AME

26
Q

JAG1

A

AD

Alagille syndrome

27
Q

KCNJ1

A

ar

Bartter syndrome type 2

28
Q

LAMB2

A

ar

Pierson syndrome

29
Q

LMX1B

A

AD

Nail-patella syndrome

30
Q

NPHP1

A

ar

Nephronopthisis - juvenile

31
Q

NPHP2

A

ar

Nephronopthisis - infantile

32
Q

NPHP3

A

ar

Nephronopthisis - adolescent

33
Q

NPHS1

A

ar

Finnish type nephrotic syndrome

34
Q

NPHS2

A

ar

congenital nephrotic syndrome/FSGS

35
Q

OCRL

A

xl

Lowe syndrome

36
Q

PAX2

A

renal coloboma syndrome

37
Q

PHEX

A

XL-DOMINANT

XL hypophosphatemic rickets

38
Q

PKD1

A

AD

ADPKD

39
Q

PKD2

A

AD

ADPKD

40
Q

PKHD1

A

ar
ARPKD
Carolis disease

41
Q

PLCE1

A

Diffuse mesangial sclerosis

42
Q

SCNN1B or G

A

AD

Liddles

43
Q

SGLT1

A

ar

Familial glucose-galactose malabsorption

44
Q

SGLT2

A

ar

Hereditary renal glucosuria

45
Q

SIX1, SIX5

A

AD

Branchio-Oto-Renal Syndrome

46
Q

SLC12A1

A

ar

Bartter syndrome type 1

47
Q

SLC12A3

A

ar

Gitelman Syndrome

48
Q

SLC3A1

A

ar

Cystinuria

49
Q

SLC34A3

A

ar

Renal phosphate wasting with hypercalciuria

50
Q

SLC7A9

A

ar

Cystinuria

51
Q

SMARCAL

A

ar

Schimke’s immune-osseous dysplasia with FSGS

52
Q

TRPC6

A

Familial FSGS

53
Q

TSC1

A

AD

Tuberous sclerosis

54
Q

TSC2

A

AD

Tuberous sclerosis

55
Q

UMOD

A

AD

Medullary cystic kidney disease type 2

56
Q

VDR

A

ar

Vit D dependent rickets type 2

57
Q

VHL

A

AD

von Hippel-Lindau disease

58
Q

WNK1 or 4

A

AD

Type 2 pseudohypoaldosteronism (Gordons)

59
Q

WT1

A

Denys-Drash Syndrome with DMS

Pediatric Nephrology Boards (2 decks)

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