Common Diseases to Inheritance Pattern Flashcards
1
Q
Ataxia telangiectasia
A
Autosomal recessive
2
Q
Abetalipoproteinaemia
A
Autosomal recessive
3
Q
Achondroplasia
A
Autosomal dominant
4
Q
Adult polycystic kidney disease
A
Mostly, Autosomal dominant (AD) >>> ADPKD
(Few cases are AR >>> ARPKD)
5
Q
Albinism, Oculocutaneous albinism, Ocular albinism
A
Albinism, Oculocutaneous albinism: Autosomal recessive
Ocular albinism: X-linked recessive
6
Q
Alpha 1 antitrypsin deficiency (Emphysema)
A
Autosomal Recessive
7
Q
Antithrombin III deficiency
A
Autosomal dominant
8
Q
Androgen insensitivity syndrome (AIS)
A
X-linked Recessive
9
Q
Alport syndrome
A
X-linked dominant (in 85% cases)
(in 10-15% cases it is Autosomal recessive, 1% autosomal dominant)
10
Q
Activated protein C resistance (Factor V leiden disease)
A
Autosomal dominant
11
Q
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
A
Autosomal dominant
12
Q
Autoimmune polyendocrinopathy syndrome (APS) type 1 = MENDAC (Multiple endocrine deficiency autoimmune candidiasis)
A
Autosomal Recessive
(Type 2 is not; that’s polygenic)
13
Q
Bartter’s syndrome
A
Autosomal recessive
14
Q
Becker muscular dystrophy
A
X-linked recessive
15
Q
Beta thalassemia
A
Autosomal Recessive
16
Q
Brugada syndrome
A
Autosomal dominant
17
Q
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
A
Autosomal dominant (mainly)
(Some cases are AR)
18
Q
Crigler Najjar syndrome
A
Autosomal Recessive
19
Q
Congenital Adrenal Hyperplasia (CAH)
A
Autosomal Recessive
20
Q
Cowden’s syndrome
A
Autosomal dominant
21
Q
Cystic Fibrosis
A
Autosomal Recessive
22
Q
Cystinuria
A
Autosomal Recessive
23
Q
Color blindness
A
X-linked Recessive
24
Q
Congenital Erythropoietic Porphyria (CEP)
A
Autosomal recessive
25
**Deafness**
**Autosomal Recessive**
26
**Dentatorubral pallidoluysian atrophy**
**Autosomal dominant, trinucleotide/triplet repeat disorder**
27
**Dubin Johnson syndrome**
**Autosomal Recessive**
28
**Duchene muscular dystrophy**
**X-linked Recessive**
29
**Ehlers Danlos syndrome**
**Autosomal Dominant**
30
**Fabry's disease**
**X-linked recessive**
31
**Factor VII deficiency**
**Autosomal recessive**
32
**Familial adenomatous polyposis (FAP)**
**Autosomal dominant**
33
**Familial glucocorticoid remediable aldosteronism (Familial GRA)**
**Autosomal dominant**
34
**Familial hyperchylomicronaemia (type I dyslipidaemia)**
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
**Autosomal recessive**
35
**Familial hypercholesterolemia (type IIA dyslipidaemia)**
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
**Autosomal dominant**
36
**Familial combined hyperlipidemia (FCHL) (Type IIB dyslipidaemia)**
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
**Autosomal dominant**
37
**Familial Remnant hyperlipidaemia/Broad-beta disease/Dysbetalipoproteinemia) (type III dyslipidaemia)**
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
**Autosomal dominant (mainly)**
38
**Familial primary hypertriglyceridaemia (Type IV dyslipidaemia)**
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
**Autosomal dominant**
39
**Familial mixed hypertriglyceridaemia (Type V dyslipidaemia)**
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
Autosomal dominant/recessive
40
**Familial mediterranean fever**
**Autosomal recessive**
41
**Familial Juvenile polyposis**
**Autosomal dominant**
42
**Fanconi anaemia/syndrome**
**Autosomal recessive**
43
**Friedreich's ataxia**
**Autosomal recessive, trinucleotide/triplet repeat disorder**
44
**Fabry's disease**
**X-linked recessive**
45
**Fragile X syndrome**
**Complex X-linked, Trinucleotide/triplet repeat disorder**
46
**G6PD deficiency**
**X-linked recessive**
47
**Gardner syndrome**
**Autosomal dominant**
48
**Galactosaemia**
**Autosomal recessive**
49
**Gaucher disease**
**Autosomal recessive**
50
**Gilbert's syndrome**
**Autosomal recessive**
**(matter of debate, some says AD)**
51
**Gitelman's syndrome**
**Autosomal recessive**
52
**Glycogen storage diseases**
**Autosomal recessive**
53
**Gunther disease**
**Autosomal recessive**
54
**Haemochromatosis**
**Autosomal recessive**
55
**Homocystinuria**
**Autosomal recessive**
56
**Hereditary haemorrhagic telacgiectasia ( = Osler Weber Rendu syndrome)**
**Autosomal dominant**
57
**Hereditary motor and sensory neuropathy (HMSN), including Charcot-Marie-Tooth disease**
**Autosomal dominant**
58
**Hereditary spherocytsis**
**Autosomal dominant**
59
**Hereditary non-polyposis colorectal carcinoma (HNPCC)**
**Autosomal dominant**
60
**Huntington's disease**
**Autosomal dominant, triculeotide/triplet repeat disorder**
61
**Hyperlipidaemia type II**
**Autosomal dominant**
62
**Hypokalaemic periodic paralysis**
**Autosomal dominant**
63
**Haemophilia A, B**
**X-linked recessive**
64
**Hunter's syndrome**
**X-linked recessive**
65
**Hurler's syndrome**
**Autosomal recessive**
66
**Hypertrophic obstructive cardiomyopathy (HOCM)**
**Autosomal dominant**
67
**Incontinentia pigmenti**
**X-linked dominant**
68
**Inherited breast cancer**
**Autosomal dominant**
69
**Inherited ovarian cancer**
**Autosomal dominant**
70
**Inherited Dilated Cardiomyopathy (DCM)**
**Autosomal dominant**
71
**Kallman syndrome**
**X-linked recessive**
72
**Kennedy disease (Spinobulbar muscular atrophy, bulbospinal neuropathy)**
**X-linked recessive, trinucleotide/triplet repeat disorder**
73
**Kearns-sayre syndrome**
**Mitochondrial disease**
74
**Lesch-Nyhan syndrome**
**X-linked recessive**
75
**Limb-girdle muscular dystrophy**
**Autosomal recessive**
76
**Lipid storage diseases: Tay-Sach's, Gaucher, Niemann-Pick**
**Autosomal recessive**
77
**LHON (Leber's hereditary optic neuropathy)/ Leber's optic atrophy**
**Mitochondrial disease**
78
**Liddle's syndrome**
**Autosomal dominant**
79
**Li-Fraumani syndrome**
**Autosomal dominant**
80
**Lawrence-Moon-Biedl syndrome**
**Autosomal recessive**
81
**Maple syrup urine disease**
**Autosomal recessive**
82
**MELAS syndrome**
**Mitochondrial disease**
83
**MERRF syndrome**
**Mitochondrial disease**
84
**Mucopolysaccharidoses (except Hunter's)**
**Autosomal recessive**
85
**Marfan syndrome**
**Autosomal dominant**
86
**MODY (Maturity onset diabetes mellitus)**
**Autosomal dominant**
87
**MEN (Multiple Endocrine Neoplasia)**
**Autosomal dominant**
88
**Myotonic dystrophy**
**Autosomal dominant, triculeotide/triplet repeat disorder**
89
**NARP (Neuropathy, Ataxia, Retinitis pigmentosa)**
**Mitochondrial disease**
90
**Noonan's syndrome**
**Autosomal dominant**
91
**Nephrogenic diabetes insipidus**
**X-linked recessive,**
(Sometimes autosomal recessive/dominant)
92
**Niemann Pick disease**
**Autosomal recessive**
93
**Osteogenesis imperfecta**
**Autosomal dominant (Type I to V: main types)**
*(Further types: VI to XV can be AR, less common)*
94
**Ocular myopathy**
**Autosomal dominant**
95
**Pearson syndrome**
**Mitochondrial disease**
96
**Pendred's syndrome**
**Autosomal recessive**
97
**Peutz-Jeghers syndrome**
**Autosomal dominant**
98
**Phenylketonuria, PKU**
**Autosomal recessive**
99
**Porphyria: Acute intermittent porphyria/Hepatic porphyrias**
**Autosomal dominant**
100
**Porphyria: PCT (Porphyria Cutanea Tarda)**
**Autosomal dominant**
101
**Porphyria: Variegate porphyria**
**Autosomal dominant**
102
**Porphyria: CEP (Congenital Erythropoietic porphyria)**
**Autosomal recessive**
103
**Protein C deficiency**
**Autosomal dominant**
104
**Pseudohypoparathyroidism**
**Autosomal dominant**
105
**Pseudoxanthoma elasticum**
**Autosomal Recessive**
(Few cases are AD)
106
**Retinoblastoma**
**Autosomal dominant**
107
**Romano-Ward syndrome**
**Autosomal dominant**
108
**Retinitis pigmentosa**
**X-linked recessive**
(Also possible AR, AD, MD)
109
**Rett syndrome**
**X-linked dominant**
110
**Ricket's (vitamin D resistant ricket's)**
111
**Rotor syndrome**
**Autosomal recessive**
112
**Spinocerebellar ataxia**
**Autosomal dominant, trinucleotide/triplet repeat disorder**
113
**Severe combined immunodeficiency (SCID)**
**X-linked recessive**
114
**Sickle cell anaemia**
**Autosomal recessive**
115
**Tay-Sach's disease**
**Autosomal recessive**
116
**Thalassemias**
**Autosomal recessive**
117
**Tuberous sclerosis**
**Autosomal dominant**
118
**Usher's syndrome**
**Mitochondrial disease**
119
**Von Hippel Lindau syndrome**
**Autosomal dominant**
120
**Von Willebrand's disease**
**type 1 & 2: Autosomal dominant**
**type 3: Autosomal recessive**
121
**Wiskott-Aldrich syndrome**
**X-linked recessive**
122
**Wilson's disease**
**Autosomal recessive**
123
**Wolf-Parkinson-White syndrome (WPW syndrome)**
**Autosomal dominant**
