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Genetics > Common Diseases to Inheritance Pattern > Flashcards

Common Diseases to Inheritance Pattern Flashcards

1
Q

Ataxia telangiectasia

A

Autosomal recessive

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2
Q

Abetalipoproteinaemia

A

Autosomal recessive

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3
Q

Achondroplasia

A

Autosomal dominant

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4
Q

Adult polycystic kidney disease

A

Mostly, Autosomal dominant (AD) >>> ADPKD

(Few cases are AR >>> ARPKD)

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5
Q

Albinism, Oculocutaneous albinism, Ocular albinism

A

Albinism, Oculocutaneous albinism: Autosomal recessive

Ocular albinism: X-linked recessive

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6
Q

Alpha 1 antitrypsin deficiency (Emphysema)

A

Autosomal Recessive

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7
Q

Antithrombin III deficiency

A

Autosomal dominant

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8
Q

Androgen insensitivity syndrome (AIS)

A

X-linked Recessive

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9
Q

Alport syndrome

A

X-linked dominant (in 85% cases)

(in 10-15% cases it is Autosomal recessive, 1% autosomal dominant)

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10
Q

Activated protein C resistance (Factor V leiden disease)

A

Autosomal dominant

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11
Q

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

A

Autosomal dominant

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12
Q

Autoimmune polyendocrinopathy syndrome (APS) type 1 = MENDAC (Multiple endocrine deficiency autoimmune candidiasis)

A

Autosomal Recessive

(Type 2 is not; that’s polygenic)

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13
Q

Bartter’s syndrome

A

Autosomal recessive

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14
Q

Becker muscular dystrophy

A

X-linked recessive

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15
Q

Beta thalassemia

A

Autosomal Recessive

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16
Q

Brugada syndrome

A

Autosomal dominant

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17
Q

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

A

Autosomal dominant (mainly)

(Some cases are AR)

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18
Q

Crigler Najjar syndrome

A

Autosomal Recessive

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19
Q

Congenital Adrenal Hyperplasia (CAH)

A

Autosomal Recessive

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20
Q

Cowden’s syndrome

A

Autosomal dominant

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21
Q

Cystic Fibrosis

A

Autosomal Recessive

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22
Q

Cystinuria

A

Autosomal Recessive

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23
Q

Color blindness

A

X-linked Recessive

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24
Q

Congenital Erythropoietic Porphyria (CEP)

A

Autosomal recessive

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25
Q

Deafness

A

Autosomal Recessive

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26
Q

Dentatorubral pallidoluysian atrophy

A

Autosomal dominant, trinucleotide/triplet repeat disorder

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27
Q

Dubin Johnson syndrome

A

Autosomal Recessive

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28
Q

Duchene muscular dystrophy

A

X-linked Recessive

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29
Q

Ehlers Danlos syndrome

A

Autosomal Dominant

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30
Q

Fabry’s disease

A

X-linked recessive

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31
Q

Factor VII deficiency

A

Autosomal recessive

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32
Q

Familial adenomatous polyposis (FAP)

A

Autosomal dominant

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33
Q

Familial glucocorticoid remediable aldosteronism (Familial GRA)

A

Autosomal dominant

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34
Q

Familial hyperchylomicronaemia (type I dyslipidaemia)

(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)

A

Autosomal recessive

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35
Q

Familial hypercholesterolemia (type IIA dyslipidaemia)

(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)

A

Autosomal dominant

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36
Q

Familial combined hyperlipidemia (FCHL) (Type IIB dyslipidaemia)

(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)

A

Autosomal dominant

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37
Q

Familial Remnant hyperlipidaemia/Broad-beta disease/Dysbetalipoproteinemia) (type III dyslipidaemia)

(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)

A

Autosomal dominant (mainly)

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38
Q

Familial primary hypertriglyceridaemia (Type IV dyslipidaemia)

(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)

A

Autosomal dominant

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39
Q

Familial mixed hypertriglyceridaemia (Type V dyslipidaemia)

(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)

A

Autosomal dominant/recessive

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40
Q

Familial mediterranean fever

A

Autosomal recessive

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41
Q

Familial Juvenile polyposis

A

Autosomal dominant

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42
Q

Fanconi anaemia/syndrome

A

Autosomal recessive

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43
Q

Friedreich’s ataxia

A

Autosomal recessive, trinucleotide/triplet repeat disorder

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44
Q

Fabry’s disease

A

X-linked recessive

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45
Q

Fragile X syndrome

A

Complex X-linked, Trinucleotide/triplet repeat disorder

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46
Q

G6PD deficiency

A

X-linked recessive

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47
Q

Gardner syndrome

A

Autosomal dominant

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48
Q

Galactosaemia

A

Autosomal recessive

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49
Q

Gaucher disease

A

Autosomal recessive

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50
Q

Gilbert’s syndrome

A

Autosomal recessive

(matter of debate, some says AD)

51
Q

Gitelman’s syndrome

A

Autosomal recessive

52
Q

Glycogen storage diseases

A

Autosomal recessive

53
Q

Gunther disease

A

Autosomal recessive

54
Q

Haemochromatosis

A

Autosomal recessive

55
Q

Homocystinuria

A

Autosomal recessive

56
Q

Hereditary haemorrhagic telacgiectasia ( = Osler Weber Rendu syndrome)

A

Autosomal dominant

57
Q

Hereditary motor and sensory neuropathy (HMSN), including Charcot-Marie-Tooth disease

A

Autosomal dominant

58
Q

Hereditary spherocytsis

A

Autosomal dominant

59
Q

Hereditary non-polyposis colorectal carcinoma (HNPCC)

A

Autosomal dominant

60
Q

Huntington’s disease

A

Autosomal dominant, triculeotide/triplet repeat disorder

61
Q

Hyperlipidaemia type II

A

Autosomal dominant

62
Q

Hypokalaemic periodic paralysis

A

Autosomal dominant

63
Q

Haemophilia A, B

A

X-linked recessive

64
Q

Hunter’s syndrome

A

X-linked recessive

65
Q

Hurler’s syndrome

A

Autosomal recessive

66
Q

Hypertrophic obstructive cardiomyopathy (HOCM)

A

Autosomal dominant

67
Q

Incontinentia pigmenti

A

X-linked dominant

68
Q

Inherited breast cancer

A

Autosomal dominant

69
Q

Inherited ovarian cancer

A

Autosomal dominant

70
Q

Inherited Dilated Cardiomyopathy (DCM)

A

Autosomal dominant

71
Q

Kallman syndrome

A

X-linked recessive

72
Q

Kennedy disease (Spinobulbar muscular atrophy, bulbospinal neuropathy)

A

X-linked recessive, trinucleotide/triplet repeat disorder

73
Q

Kearns-sayre syndrome

A

Mitochondrial disease

74
Q

Lesch-Nyhan syndrome

A

X-linked recessive

75
Q

Limb-girdle muscular dystrophy

A

Autosomal recessive

76
Q

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

A

Autosomal recessive

77
Q

LHON (Leber’s hereditary optic neuropathy)/ Leber’s optic atrophy

A

Mitochondrial disease

78
Q

Liddle’s syndrome

A

Autosomal dominant

79
Q

Li-Fraumani syndrome

A

Autosomal dominant

80
Q

Lawrence-Moon-Biedl syndrome

A

Autosomal recessive

81
Q

Maple syrup urine disease

A

Autosomal recessive

82
Q

MELAS syndrome

A

Mitochondrial disease

83
Q

MERRF syndrome

A

Mitochondrial disease

84
Q

Mucopolysaccharidoses (except Hunter’s)

A

Autosomal recessive

85
Q

Marfan syndrome

A

Autosomal dominant

86
Q

MODY (Maturity onset diabetes mellitus)

A

Autosomal dominant

87
Q

MEN (Multiple Endocrine Neoplasia)

A

Autosomal dominant

88
Q

Myotonic dystrophy

A

Autosomal dominant, triculeotide/triplet repeat disorder

89
Q

NARP (Neuropathy, Ataxia, Retinitis pigmentosa)

A

Mitochondrial disease

90
Q

Noonan’s syndrome

A

Autosomal dominant

91
Q

Nephrogenic diabetes insipidus

A

X-linked recessive,

(Sometimes autosomal recessive/dominant)

92
Q

Niemann Pick disease

A

Autosomal recessive

93
Q

Osteogenesis imperfecta

A

Autosomal dominant (Type I to V: main types)

(Further types: VI to XV can be AR, less common)

94
Q

Ocular myopathy

A

Autosomal dominant

95
Q

Pearson syndrome

A

Mitochondrial disease

96
Q

Pendred’s syndrome

A

Autosomal recessive

97
Q

Peutz-Jeghers syndrome

A

Autosomal dominant

98
Q

Phenylketonuria, PKU

A

Autosomal recessive

99
Q

Porphyria: Acute intermittent porphyria/Hepatic porphyrias

A

Autosomal dominant

100
Q

Porphyria: PCT (Porphyria Cutanea Tarda)

A

Autosomal dominant

101
Q

Porphyria: Variegate porphyria

A

Autosomal dominant

102
Q

Porphyria: CEP (Congenital Erythropoietic porphyria)

A

Autosomal recessive

103
Q

Protein C deficiency

A

Autosomal dominant

104
Q

Pseudohypoparathyroidism

A

Autosomal dominant

105
Q

Pseudoxanthoma elasticum

A

Autosomal Recessive

(Few cases are AD)

106
Q

Retinoblastoma

A

Autosomal dominant

107
Q

Romano-Ward syndrome

A

Autosomal dominant

108
Q

Retinitis pigmentosa

A

X-linked recessive

(Also possible AR, AD, MD)

109
Q

Rett syndrome

A

X-linked dominant

110
Q

Ricket’s (vitamin D resistant ricket’s)

A
111
Q

Rotor syndrome

A

Autosomal recessive

112
Q

Spinocerebellar ataxia

A

Autosomal dominant, trinucleotide/triplet repeat disorder

113
Q

Severe combined immunodeficiency (SCID)

A

X-linked recessive

114
Q

Sickle cell anaemia

A

Autosomal recessive

115
Q

Tay-Sach’s disease

A

Autosomal recessive

116
Q

Thalassemias

A

Autosomal recessive

117
Q

Tuberous sclerosis

A

Autosomal dominant

118
Q

Usher’s syndrome

A

Mitochondrial disease

119
Q

Von Hippel Lindau syndrome

A

Autosomal dominant

120
Q

Von Willebrand’s disease

A

type 1 & 2: Autosomal dominant

type 3: Autosomal recessive

121
Q

Wiskott-Aldrich syndrome

A

X-linked recessive

122
Q

Wilson’s disease

A

Autosomal recessive

123
Q

Wolf-Parkinson-White syndrome (WPW syndrome)

A

Autosomal dominant

Genetics (28 decks)

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