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FRACP 2023 Cram Homicrons Edition > Gene = Dx > Flashcards

Gene = Dx Flashcards

1
Q

ATP7b gene mutation

A

Wilson’s Disease

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2
Q

Connexin 26

A

Congenital non syndromic SNHL
- AD/AR/sporadic
- Accounts for 50%

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3
Q

CHD7

A

CHARGE syndrome

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4
Q

22q11 deletion

A

Di George

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5
Q

MECP2

A

Rett

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6
Q

ABCD1

A

Adrenoleukodystrophy

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7
Q

ATP7A

A

Menkes kinky hair

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8
Q

SMAD3, TGFB

A

Loeys-Dietz

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9
Q

CBS

A

Homocysteinuria

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10
Q

FBN1

A

Marfans

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11
Q

PKD1,2- polycystin

A

ADPKD
- PKD1 more severe/earlier
- Liver, pancreas cysts, Berry aneurysms

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12
Q

PKHD1- Fibrocystin

A

ARPKD
- Large cysts at birth
- Potter sequence
- Liver fibrosis

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13
Q

COL1A1/COL1A2

A

OI
- Fragile bones, blue sclera, deafness
- Also short stature
- Increased bone turnover

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14
Q

NLRP3 (CIAS1)

A

Cryopyrin Associated Periodic Syndromes
- Encodes cryopyrin

Mutations include:
- FCAS1

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15
Q

MVK

A

Hyper IgD syndrome (Dutch fever)
- AR

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16
Q

MEFV

A

Familial Mediterranean fever
- Most common, AR
- 1-3d fever + serositis, 20% amyloidosis

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17
Q

TNFR1

A

TRAPS

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18
Q

RAB27 alpha

A

Griscelli
Oculocutaneous albinism partial
Neutropenia & hypogamm
High risk HLH

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19
Q

LYST

A

Chediak Higashi
- Vesicular trafficking disorder (AR)
- Giant cytoplasmic granules in WBCs
- Oculocutaneous albinism, PN, neutropenia
- At risk H

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20
Q

NCCT (SLA12A3)

A

Gittelmans
- Low calcium, Na/Cl
- Decreased uptake from DCT
- Similar to thiazide diuretic

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21
Q

CLCN5 and

A

Dents
- Stones

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22
Q

OCRL1

A

Lowe’s Syndrome
- X-linked
- proteinuria, renal tubular acidosis (type 2), congenital cataracts, and developmental delay
- Similar to Dent’s

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23
Q

CYBB

A

CGD (X-linked)

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24
Q

RPS19

A

Diamond-Blackfan (AD)

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25
Q

SBDS

A

Swachmann-Diamond

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26
Q

CTC1

A

Coats plus

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27
Q

SMARCAL1

A

Schimke immunoosseous dysplasia
- Spondyloepiphyseal dysplasia
- Pigmentary skin changes/abnormal teeth
- Renal dysfunction
- Lymphopenia/impaired immunity

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28
Q

SALL1 gene

A

Miller syndrome?

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29
Q

TCOF1 gene

A

Treacher-Collins

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30
Q

ORC1 gene

A

Meier-Gorlin

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31
Q

GNAQ

A

Sturge Weber Syndrome

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32
Q

ATM

A

Ataxia Telangectasia

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33
Q

ADAM-TS13

A

TTP- abnormal protease

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34
Q

FANCA/BRCA1 and BRCA2

A

Fanconi anaemia
- DNA repair genes
- BM failure, higher risk of malignancy
- Dx: DNA fragility (chromosomal breakage study)

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35
Q

NF1

A

’’

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36
Q

NF2

A

’’

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37
Q

TSC1,2

A

Tuberous Sclerosis 1/2

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38
Q

ELN- 7q11

A

Williams

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39
Q

JAG1/NOTCH2

A

Alagille

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40
Q

COL5A

A

Ehlers Danlos

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41
Q

COL1A1/2

A

Osteogenesis imperfecta

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42
Q

COL2A1

A

Stickler Syndrome

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43
Q

EYA1

A

Brachio-oto-renal syndrome

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44
Q

RPS19 (25%)

A

Diamond Blackfan Anaemia

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45
Q

VHL

A

Von Hippel Lindau Syndrome

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46
Q

NIPBL/SMC1A

A

Cornelia De Lange Syndrome

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47
Q

PAX3/SOX10

A

Waardenburg Syndrome

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48
Q

RASMAPK/HRAS

A

Costello Syndrome

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49
Q

RASMAPK/- PTPN11, SOS1

A

Noonan Syndrome

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50
Q

RASMAPK/- KRAS

A

Cardiofasciocutaneous syndrome

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51
Q

TCOF1

A

Treacher-Collins Syndrome

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52
Q

SERPINA1

A

A1AT Deficiency

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53
Q

FGFR3

A

Achondroplasia

54
Q

FGFR2

A

Apert

55
Q

FGFR2

A

Crouzon

56
Q

PKD1/2- polycystin

A

ADPKD

57
Q

APC

A

Familial Adenomatous Polyposis

58
Q

p53

A

Li Fraumeni

59
Q

MEN1/RET

A

MEN1, MEN 2A & B

60
Q

CMT1/PMPZZ

A

Charcot-Marie-Tooth

61
Q

CHD7

A

CHARGE

62
Q

UGT1A1

A

Gilbert

63
Q

STK11

A

Peutz-Jeghers

64
Q

DMPK

A

Myotonic dystrophy MD1
Autosomal dominant
- GTG triplet repeat
- Anticipation- maternal

65
Q

CFTR

A

CF

66
Q

CB5

A

Homocysteinuria

67
Q

PKHD1- fibrocystin

A

ARPKD

68
Q

HBA1/2

A

Thalassemia

69
Q

HBB

A

Sickle cell anaemia

70
Q

ITGA2B or ITGB3

A

Glanzman Thrombasthenia

71
Q

DHCR7

A

Smith-Lemli-Opitz

72
Q

ATM

A

Ataxia-Telangectasia

73
Q

ARSA

A

Metachromatic Leukodystrophy

74
Q

SMN1 5q11

A

SMA

75
Q

HEXA/B

A

Tay-Sachs

76
Q

RBM8A

A

TAR (thrombocytopenia absent radii)

77
Q

FXN

A

Freidrich’s ataxia

78
Q

UGT1A1

A

Crigler Najjar

79
Q

DNAI1 and DNAH5

A

Kartageners/PKD

80
Q

SGLT1/GLUT1

A

Gluc-galactose malabsorption

81
Q

PAH

A

PKU

82
Q

SCN1A

A

Dravet

83
Q

MECP2

A

Rett

84
Q

DEPDC5

A

mTOR pathway
- Familial focal epilepsy/cortical dysplasia

85
Q

KCNQ2

A
  • Potassium chanellopathy
  • Common cause of benign familial neonatal epilepsy
  • However can also present with severe encephalopathy
86
Q

BRCA1

A

Tumor supressor in breast & ovarian Ca

87
Q

MTOR

A

Tumor supressor
- Defects associated with Smith-Kingsmore syndrome

88
Q

RB1

A

Tumor supressor
- Retinoblastoma

89
Q

TP53

A

Li Fraumeni
- AD cancer syndrome
- soft tissue and haematological Ca: breast cancer, sarcomas, brain tumours, leukaemia
and adrenal gland tumours.

90
Q

SRD5A2

A

5-Alpha Reductase Deficiency (46 XY DSD)
- ambiguous/female genitalia at birth
- masculinisation during puberty
- No gynaecomastia

Ix: normal testosterone/normal low DHT
- hight testosterone: DHT ratio

91
Q

KCNQ1

A

LQTS1- males, exercise

92
Q

KCNH2

A

LQTS2- females, startle

93
Q

SCN5A

A

LQTS3- males, sleep

94
Q

PTPN11, SOS1

A

Noonan- aberrant RAS-MAPK signalling

95
Q

7q11.23

A

Williams

96
Q

15q11-q13

A

Prader Willi

97
Q

IFNAR1

A

Interferon receptor- vaccine/viral related illness

98
Q

L2RG

A

X-linked severe
combined immunodeficiency
(SCID)

99
Q

CYBB

A

chronic granulomatous disease

100
Q

IKBKG

A

incontinentia pigmenti, ectodermal dysplasia with immune deficiency

101
Q

RUNX1

A

Abnormal core binding factor- involved in haematopoesis
- increased risk of AML, T cell ALL, JIA and
RA

102
Q

ETV6

A

Leukemia

103
Q

NPRL3

A

mTOR pathway
-increased risk of focal cortical dysplasia and familial focal epilepsy with variable foci (FFEVF)

104
Q

AIRE

A

APECED
- Loss of function mutation, no negative selection of self-reactive T-cells
3-5yrs:
* Mucocutaneous candidiasis
* Hypoparathyroidism
* Addison’s disease

105
Q

BTK

A

X linked agammaglobulinaemia
>6mo:
* Absent lymphoid tissue
* Absent immunoglobulin production.
* Sinopulm, skin infections & giardia

106
Q

RYR2 mutation (30%)

A

Catecholaminergic polymorphic ventricular
tachycardia (CPVT)

107
Q

MYO5B

A

Myosin 5b mutations cause
microvillus inclusion disease

108
Q

FIC1 protein

A

PFIC1

109
Q

BSEP protein

A

PFIC2

110
Q

MDR3 protein

A

PFIC 3

111
Q

RB1 chromosome 13q

A

Retinoblastoma

112
Q

C-myc proto-oncogene

A

Linked to Burkitts Lymphoma

113
Q

SMARCB1 (loss of INI1)- 35% germline

A

Poor prognosis rhabdoid brain/kidney Ca

114
Q

RB1

A

Retinoblastoma
- one hit =predisposed, 2hit = cancer

115
Q

MYCN

A

Poor prognosis
Neuroblastoma

116
Q

PHOX2

A

Central apnoea/hyperventilation syndrome
Neuroblastoma

117
Q

PAX-FKHR/ t(1/2;13)

A

Alveolar rhabdomyosarcoma
- Worse prognosis

118
Q

EWSR1. t(11;22)

A

Ewings Sarcoma

119
Q

PMP22 gene- 17p11.2

A

CMT1A
- point or duplication mutation in PMP22 gene- encodes peripheral myelin
- Abnormal or expression/distribution of protein

120
Q

Frataxin/FXN

A

Freidrich Ataxia
- GAA trinucleotide repeats
- Loss of function mutation

121
Q

MPZ Chr 1q22

A

Peroneal muscular atrophy, now known as CMT1B
- Myelin protein zero

122
Q

SPINK1 (serine peptidase inhibitor kazal type 1)

A

Hereditary pancreatitis

123
Q

SPINK1 (serine peptidase inhibitor kazal type 1)

A

Hereditary pancreatitis

124
Q

11p deletion
Loss of WT1 and PAX6

A

WAGR

Wilms tumour
Genitourinary anomalies
Aniridia
Retardation (Mental)

WT1 gene mutation also seen in Denys-Drash syndrome

125
Q

p53

A

Li Fraumeni

Sarcomas
Adrenocortical carcinoma
Leukaemia
Gliomas
BR/bone/ lung / brain

126
Q

PTEN

A

Cowden
THUG

Hamartomas
Non medullary thyroid CA
Uterine/ BRCA
Gangliocytoma (Lhermitte-Duclos)
Mucocutaneous lesions, macrocephaly,

127
Q

APC

A

FAP (AD)

Colorectal
Thyroid
Hepatoblastoma

128
Q

RecQ helicase

A

Bloom syndrome (AR)

129
Q

RecQ helicase

A

Bloom syndrome (AR)

Leukaemia
Lymphoma
Solid tumours
Short stature, photosensitive telangiectatic erythema

130
Q

SH2D1A

A

X linked immunodeficiency (Duncan syndrome)

Lymphoproliferative disorder

131
Q

ELANE

A

Kostmann syndrome
Congenital neutropenia
Risk of myelodysplastic syndrome/ leukaemia

FRACP 2023 Cram Homicrons Edition (29 decks)

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