Gene = Dx Flashcards
1
Q
ATP7b gene mutation
A
Wilson’s Disease
2
Q
Connexin 26
A
Congenital non syndromic SNHL
- AD/AR/sporadic
- Accounts for 50%
3
Q
CHD7
A
CHARGE syndrome
4
Q
22q11 deletion
A
Di George
5
Q
MECP2
A
Rett
6
Q
ABCD1
A
Adrenoleukodystrophy
7
Q
ATP7A
A
Menkes kinky hair
8
Q
SMAD3, TGFB
A
Loeys-Dietz
9
Q
CBS
A
Homocysteinuria
10
Q
FBN1
A
Marfans
11
Q
PKD1,2- polycystin
A
ADPKD
- PKD1 more severe/earlier
- Liver, pancreas cysts, Berry aneurysms
12
Q
PKHD1- Fibrocystin
A
ARPKD
- Large cysts at birth
- Potter sequence
- Liver fibrosis
13
Q
COL1A1/COL1A2
A
OI
- Fragile bones, blue sclera, deafness
- Also short stature
- Increased bone turnover
14
Q
NLRP3 (CIAS1)
A
Cryopyrin Associated Periodic Syndromes
- Encodes cryopyrin
Mutations include:
- FCAS1
15
Q
MVK
A
Hyper IgD syndrome (Dutch fever)
- AR
16
Q
MEFV
A
Familial Mediterranean fever
- Most common, AR
- 1-3d fever + serositis, 20% amyloidosis
17
Q
TNFR1
A
TRAPS
18
Q
RAB27 alpha
A
Griscelli
Oculocutaneous albinism partial
Neutropenia & hypogamm
High risk HLH
19
Q
LYST
A
Chediak Higashi
- Vesicular trafficking disorder (AR)
- Giant cytoplasmic granules in WBCs
- Oculocutaneous albinism, PN, neutropenia
- At risk H
20
Q
NCCT (SLA12A3)
A
Gittelmans
- Low calcium, Na/Cl
- Decreased uptake from DCT
- Similar to thiazide diuretic
21
Q
CLCN5 and
A
Dents
- Stones
22
Q
OCRL1
A
Lowe’s Syndrome
- X-linked
- proteinuria, renal tubular acidosis (type 2), congenital cataracts, and developmental delay
- Similar to Dent’s
23
Q
CYBB
A
CGD (X-linked)
24
Q
RPS19
A
Diamond-Blackfan (AD)
25
SBDS
Swachmann-Diamond
26
CTC1
Coats plus
27
SMARCAL1
Schimke immunoosseous dysplasia
- Spondyloepiphyseal dysplasia
- Pigmentary skin changes/abnormal teeth
- Renal dysfunction
- Lymphopenia/impaired immunity
28
SALL1 gene
Miller syndrome?
29
TCOF1 gene
Treacher-Collins
30
ORC1 gene
Meier-Gorlin
31
GNAQ
Sturge Weber Syndrome
32
ATM
Ataxia Telangectasia
33
ADAM-TS13
TTP- abnormal protease
34
FANCA/BRCA1 and BRCA2
Fanconi anaemia
- DNA repair genes
- BM failure, higher risk of malignancy
- Dx: DNA fragility (chromosomal breakage study)
35
NF1
''
36
NF2
''
37
TSC1,2
Tuberous Sclerosis 1/2
38
ELN- 7q11
Williams
39
JAG1/NOTCH2
Alagille
40
COL5A
Ehlers Danlos
41
COL1A1/2
Osteogenesis imperfecta
42
COL2A1
Stickler Syndrome
43
EYA1
Brachio-oto-renal syndrome
44
RPS19 (25%)
Diamond Blackfan Anaemia
45
VHL
Von Hippel Lindau Syndrome
46
NIPBL/SMC1A
Cornelia De Lange Syndrome
47
PAX3/SOX10
Waardenburg Syndrome
48
RASMAPK/HRAS
Costello Syndrome
49
RASMAPK/- PTPN11, SOS1
Noonan Syndrome
50
RASMAPK/- KRAS
Cardiofasciocutaneous syndrome
51
TCOF1
Treacher-Collins Syndrome
52
SERPINA1
A1AT Deficiency
53
FGFR3
Achondroplasia
54
FGFR2
Apert
55
FGFR2
Crouzon
56
PKD1/2- polycystin
ADPKD
57
APC
Familial Adenomatous Polyposis
58
p53
Li Fraumeni
59
MEN1/RET
MEN1, MEN 2A & B
60
CMT1/PMPZZ
Charcot-Marie-Tooth
61
CHD7
CHARGE
62
UGT1A1
Gilbert
63
STK11
Peutz-Jeghers
64
DMPK
Myotonic dystrophy MD1
Autosomal dominant
- GTG triplet repeat
- Anticipation- maternal
65
CFTR
CF
66
CB5
Homocysteinuria
67
PKHD1- fibrocystin
ARPKD
68
HBA1/2
Thalassemia
69
HBB
Sickle cell anaemia
70
ITGA2B or ITGB3
Glanzman Thrombasthenia
71
DHCR7
Smith-Lemli-Opitz
72
ATM
Ataxia-Telangectasia
73
ARSA
Metachromatic Leukodystrophy
74
SMN1 5q11
SMA
75
HEXA/B
Tay-Sachs
76
RBM8A
TAR (thrombocytopenia absent radii)
77
FXN
Freidrich's ataxia
78
UGT1A1
Crigler Najjar
79
DNAI1 and DNAH5
Kartageners/PKD
80
SGLT1/GLUT1
Gluc-galactose malabsorption
81
PAH
PKU
82
SCN1A
Dravet
83
MECP2
Rett
84
DEPDC5
mTOR pathway
- Familial focal epilepsy/cortical dysplasia
85
KCNQ2
- Potassium chanellopathy
- Common cause of benign familial neonatal epilepsy
- However can also present with severe encephalopathy
86
BRCA1
Tumor supressor in breast & ovarian Ca
87
MTOR
Tumor supressor
- Defects associated with Smith-Kingsmore syndrome
88
RB1
Tumor supressor
- Retinoblastoma
89
TP53
Li Fraumeni
- AD cancer syndrome
- soft tissue and haematological Ca: breast cancer, sarcomas, brain tumours, leukaemia
and adrenal gland tumours.
90
SRD5A2
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
KCNQ1
LQTS1- males, exercise
92
KCNH2
LQTS2- females, startle
93
SCN5A
LQTS3- males, sleep
94
PTPN11, SOS1
Noonan- aberrant RAS-MAPK signalling
95
7q11.23
Williams
96
15q11-q13
Prader Willi
97
IFNAR1
Interferon receptor- vaccine/viral related illness
98
L2RG
X-linked severe
combined immunodeficiency
(SCID)
99
CYBB
chronic granulomatous disease
100
IKBKG
incontinentia pigmenti, ectodermal dysplasia with immune deficiency
101
RUNX1
Abnormal core binding factor- involved in haematopoesis
- increased risk of AML, T cell ALL, JIA and
RA
102
ETV6
Leukemia
103
NPRL3
mTOR pathway
-increased risk of focal cortical dysplasia and familial focal epilepsy with variable foci (FFEVF)
104
AIRE
APECED
- Loss of function mutation, no negative selection of self-reactive T-cells
3-5yrs:
* Mucocutaneous candidiasis
* Hypoparathyroidism
* Addison’s disease
105
BTK
X linked agammaglobulinaemia
>6mo:
* Absent lymphoid tissue
* Absent immunoglobulin production.
* Sinopulm, skin infections & giardia
106
RYR2 mutation (30%)
Catecholaminergic polymorphic ventricular
tachycardia (CPVT)
107
MYO5B
Myosin 5b mutations cause
microvillus inclusion disease
108
FIC1 protein
PFIC1
109
BSEP protein
PFIC2
110
MDR3 protein
PFIC 3
111
RB1 chromosome 13q
Retinoblastoma
112
C-myc proto-oncogene
Linked to Burkitts Lymphoma
113
SMARCB1 (loss of INI1)- 35% germline
Poor prognosis rhabdoid brain/kidney Ca
114
RB1
Retinoblastoma
- one hit =predisposed, 2hit = cancer
115
MYCN
Poor prognosis
Neuroblastoma
116
PHOX2
Central apnoea/hyperventilation syndrome
Neuroblastoma
117
PAX-FKHR/ t(1/2;13)
Alveolar rhabdomyosarcoma
- Worse prognosis
118
EWSR1. t(11;22)
Ewings Sarcoma
119
PMP22 gene- 17p11.2
CMT1A
- point or duplication mutation in PMP22 gene- encodes peripheral myelin
- Abnormal or expression/distribution of protein
120
Frataxin/FXN
Freidrich Ataxia
- GAA trinucleotide repeats
- Loss of function mutation
121
MPZ Chr 1q22
Peroneal muscular atrophy, now known as CMT1B
- Myelin protein zero
122
SPINK1 (serine peptidase inhibitor kazal type 1)
Hereditary pancreatitis
123
SPINK1 (serine peptidase inhibitor kazal type 1)
Hereditary pancreatitis
124
11p deletion
Loss of WT1 and PAX6
WAGR
Wilms tumour
Genitourinary anomalies
Aniridia
Retardation (Mental)
WT1 gene mutation also seen in Denys-Drash syndrome
125
p53
Li Fraumeni
Sarcomas
Adrenocortical carcinoma
Leukaemia
Gliomas
BR/bone/ lung / brain
126
PTEN
Cowden
THUG
Hamartomas
Non medullary thyroid CA
Uterine/ BRCA
Gangliocytoma (Lhermitte-Duclos)
Mucocutaneous lesions, macrocephaly,
127
APC
FAP (AD)
Colorectal
Thyroid
Hepatoblastoma
128
RecQ helicase
Bloom syndrome (AR)
129
RecQ helicase
Bloom syndrome (AR)
Leukaemia
Lymphoma
Solid tumours
Short stature, photosensitive telangiectatic erythema
130
SH2D1A
X linked immunodeficiency (Duncan syndrome)
Lymphoproliferative disorder
131
ELANE
Kostmann syndrome
Congenital neutropenia
Risk of myelodysplastic syndrome/ leukaemia
