Genetics Flashcards
Congenital adrenal hyperplasia
21alpha hydroxylase deficiency
autosomal recessive
MEN1
pituitary, parathyroid, pancreatic autosomal dominant (MEN1 gene)
MEN2
medullary thyroid, phaeochromocytoma autosomal dominant (RET gene)
Von Hippel Lindau
vascular tumours autosomal dominant (VHL gene)
Adrenocortical hyperplasia
increased androgens
autosomal recessive
Polycystic kidney disease
autosomal dominant –> PKD1 chromosome 16
autosomal recessive –>PKDH1 chromosome 6
Alport’s syndrome
Type IV collagen disorder–> haematuria and deafness
x-linked
Anderson’s-Fabrys
a-galactasidose A deficiency –> angiokeratomas + kidney dysfunction
x-linked
Medullary cystic kidney
Abnormal tubules leading to fibrosis
Autosomal dominant
Medullary sponge kidney
Dilatation of collecting ducts
sporadic
Tuberous sclerosis
ash-leaf macules, periungal fibromas and angiomyolipomas
autosomal dominance
Epidermolysis bullosa
AD, AR, new mutatio or acquired
Neurofibromatosis 1
Cafe-au-lait patches, lisch nodules
Autosomal dominant
Neurofibromatosis 2
cafe-au-lait, gliomas, bilateral vesticular schwannomas
Autosomal dominant
Gorlin’s syndrome
multiple cancers - skin etc
Autosomal dominant
Basal cell carcinoma
PTCH1 gene
hedgehog signalling pathway
Osteogenesis imperfecta
T1 collagen defect
mild = AD
rare = AR
Achondroplasia
Skeletal dysplasia
Autosomal dominant
Marfan’s syndrome
Fibrillin gene mutation
Autosomal dominant
Ehler’s-Danlos
Irregular collagen and elastin formation
Autosomal dominant
Duchenne/ Becker’s dystrophy
x-linked recessive defect in dystrophin gene
IPEX syndrome
immune dysregulation, endocrinopathy and enteropathy
FOXP3 gene
x linked
