Genetics Flashcards Preview

The Holy Grail (Miscellaneous) > Genetics > Flashcards

Flashcards in Genetics Deck (23)
Loading flashcards...
1

Tuberous sclerosis

Autosomal dominent

Ash leaf macule
Periungual fibromas
Angiofibromas

2

Neurofibromatosis 1

Autosomal dominant

Cafe-au-lait patches (>2.5cm)
Lisch nodules (2 or more)

3

Neurofibromatosis 2

Autosomal dominant

Cafe-au-lait patches
Glioma/ bilateral vestibular schwannoma

4

Gorlin's Syndrome

Autosomal dominant

Familial cancer syndrome

5

Basal cell carcinoma

PTCH1 gene
Hedgehog signalling pathway

6

Osteogenesis imperfecta

Mild: Autosomal dominant
Rarer cases: Autosomal recessive

Type 1 collagen defect- brittle bone defect
blue sclera

7

Achrondroplasia

Autosomal dominant

8

Marfan's syndrome

Autosomal dominant or sporadic

Fibrillin gene
Tall, long limbs, pectus excavatum, valve defects

9

Ehler's-Danlos

Autosomal dominant

Irregular collagen and elastic formation

10

Duchenne's/ Becker's dystrophy

X linked recessive (occurs in males only)

Defect in dystophin gene
Raised CK, gower's sign

11

IPEX Syndrome

X-linked inheritance

FOXP3 gene
Immune dysregulation
Endocrionopathy
Enteropathy- severe diarrhoea

12

Congenital adrenal hyperplasia

Autosomal recessive

Commonly 21-alpha hydroxylase deficiency

13

MEN 1

Autosomal dominant
MEN 1 gene

Pituitary
Parathyroid
Pancreatic islet cells

14

MEN 2

Autosomal dominant
RET gene

Medullary thyroid, Pheochromocytoma

15

Von Hippel lindau

Autosomal dominant

VHL gene
Vascular tumours

16

Adrenocortical hyperplasia

Autosomal recessive

Increased androgen production

17

Donohue syndrome

Autosomal recessive

Severe insulin resistance
Mutations in the insulin receptor

18

Rabson Mendenhall

Autosomal recessive

Hyperglycaemia
Hyperinsulinaemia

19

Polycystic kidneys

Autosomal dominant- PKD1 c16, PKD2 c4
Autosomal recessive- PKDH1 c6

20

Alports syndrome

X linked
COL4AS gene

Type IV collagen disorder
Haematuria and deafness

21

Anderson Fabry's

X linked, lysosomal storage

Deficiency of alpha-galactosidase A
Angiokeratomas around the umbillicus

22

Medullary cystic kidney

Autosomal dominant

Abnormal tubules leasing to fibrosis

23

Medullary sponge

Sporadic inheritance

Dilation of collecting ducts