Inherited Conditions Flashcards

1
Q

Hereditary spherocytosis

A

Autosomal dominant

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2
Q

Noonan syndrome

A

Autosomal dominant

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3
Q

Hereditary non-polyposis colorectal carcinoma

A

Autosomal dominant

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4
Q

Cystic fibrosis

A

Autosomal recessive

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5
Q

Myotonic dystrophy

A

Autosomal dominant

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6
Q

Hyperlipidaemia type 2

A

Autosomal dominant

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7
Q

Acute intermittent porphyria

A

Autosomal dominant

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8
Q

Glycogen storage disease

A

Autosomal recessive

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9
Q

Thalassaemias

A

Autosomal recessive

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10
Q

Gilbert’s syndrome

A

Autosomal recessive

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11
Q

Haemochromatosis

A

Autosomal recessive

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12
Q

Tuberose sclerosis

A

Autosomal dominant

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13
Q

Adult polycystic disease

A

Autosomal dominant

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14
Q

Von Hippel-Lindau syndrome

A

Autosomal dominant

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15
Q

Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick

A
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16
Q

Antitrhombin III deficiency

A

Autosomal dominant

17
Q

Von Willebrand disease (Type 1)

A

Autosomal dominant

Around 80% of Von Willebrand Disease is type 1

18
Q

Osteogenesis imperfecta

A

Autosomal dominant

19
Q

Sickle cell anaemia

A

Autosomal recessive

20
Q

Cystinuria

A

Autosomal recessive

21
Q

Ataxia telangiectasia

A

Autosomal recessive

22
Q

Familial adenomatous polyposis

A

Autosomal dominant

23
Q

Achondroplasia

A

Autosomal dominant

24
Q

Neurofibromatosis

A

Autosomal dominant

25
Hereditary haemorrhagic telangiectasia
Autosomal dominant
26
Huntington's disease
Autosomal dominant
27
Familial Mediterranean Fever
Autosomal recessive
28
Homocystinuria
Autosomal recessive
29
Albinism
Autosomal recessive
30
Fanconi anaemia
Autosomal recessive
31
Congenital adrenal hyperplasia
Autosomal recessive
32
Peutz-Jeghers syndrome (Hereditary intestinal polyposis syndrome)
Autosomal dominant
33
Retinoblastoma
Autosomal dominant
34
Autosomal dominant conditions are mostly [1] whilst autosomal recessive conditions are mostly [2]
1. Structural 2. Metabolic
35
Ehlers-Danlos syndrome
Autosomal dominant
36
Friedreich's ataxia
Autosomal recessive
37
Wilson's disease
Autosomal recessive
38
Marfan's syndrome
Autosomal dominant