Genetics Flashcards
Tuberous sclerosis
Autosomal dominent
Ash leaf macule
Periungual fibromas
Angiofibromas
Neurofibromatosis 1
Autosomal dominant
Cafe-au-lait patches (>2.5cm) Lisch nodules (2 or more)
Neurofibromatosis 2
Autosomal dominant
Cafe-au-lait patches
Glioma/ bilateral vestibular schwannoma
Gorlin’s Syndrome
Autosomal dominant
Familial cancer syndrome
Basal cell carcinoma
PTCH1 gene
Hedgehog signalling pathway
Osteogenesis imperfecta
Mild: Autosomal dominant
Rarer cases: Autosomal recessive
Type 1 collagen defect- brittle bone defect
blue sclera
Achrondroplasia
Autosomal dominant
Marfan’s syndrome
Autosomal dominant or sporadic
Fibrillin gene
Tall, long limbs, pectus excavatum, valve defects
Ehler’s-Danlos
Autosomal dominant
Irregular collagen and elastic formation
Duchenne’s/ Becker’s dystrophy
X linked recessive (occurs in males only)
Defect in dystophin gene
Raised CK, gower’s sign
IPEX Syndrome
X-linked inheritance
FOXP3 gene
Immune dysregulation
Endocrionopathy
Enteropathy- severe diarrhoea
Congenital adrenal hyperplasia
Autosomal recessive
Commonly 21-alpha hydroxylase deficiency
MEN 1
Autosomal dominant
MEN 1 gene
Pituitary
Parathyroid
Pancreatic islet cells
MEN 2
Autosomal dominant
RET gene
Medullary thyroid, Pheochromocytoma
Von Hippel lindau
Autosomal dominant
VHL gene
Vascular tumours
Adrenocortical hyperplasia
Autosomal recessive
Increased androgen production
Donohue syndrome
Autosomal recessive
Severe insulin resistance
Mutations in the insulin receptor
Rabson Mendenhall
Autosomal recessive
Hyperglycaemia
Hyperinsulinaemia
Polycystic kidneys
Autosomal dominant- PKD1 c16, PKD2 c4
Autosomal recessive- PKDH1 c6
Alports syndrome
X linked
COL4AS gene
Type IV collagen disorder
Haematuria and deafness
Anderson Fabry’s
X linked, lysosomal storage
Deficiency of alpha-galactosidase A
Angiokeratomas around the umbillicus
Medullary cystic kidney
Autosomal dominant
Abnormal tubules leasing to fibrosis
Medullary sponge
Sporadic inheritance
Dilation of collecting ducts
