Common Diseases to Inheritance Pattern Flashcards
Ataxia telangiectasia
Autosomal recessive
Abetalipoproteinaemia
Autosomal recessive
Achondroplasia
Autosomal dominant
Adult polycystic kidney disease
Mostly, Autosomal dominant (AD) >>> ADPKD
(Few cases are AR >>> ARPKD)
Albinism, Oculocutaneous albinism, Ocular albinism
Albinism, Oculocutaneous albinism: Autosomal recessive
Ocular albinism: X-linked recessive
Alpha 1 antitrypsin deficiency (Emphysema)
Autosomal Recessive
Antithrombin III deficiency
Autosomal dominant
Androgen insensitivity syndrome (AIS)
X-linked Recessive
Alport syndrome
X-linked dominant (in 85% cases)
(in 10-15% cases it is Autosomal recessive, 1% autosomal dominant)
Activated protein C resistance (Factor V leiden disease)
Autosomal dominant
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Autosomal dominant
Autoimmune polyendocrinopathy syndrome (APS) type 1 = MENDAC (Multiple endocrine deficiency autoimmune candidiasis)
Autosomal Recessive
(Type 2 is not; that’s polygenic)
Bartter’s syndrome
Autosomal recessive
Becker muscular dystrophy
X-linked recessive
Beta thalassemia
Autosomal Recessive
Brugada syndrome
Autosomal dominant
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Autosomal dominant (mainly)
(Some cases are AR)
Crigler Najjar syndrome
Autosomal Recessive
Congenital Adrenal Hyperplasia (CAH)
Autosomal Recessive
Cowden’s syndrome
Autosomal dominant
Cystic Fibrosis
Autosomal Recessive
Cystinuria
Autosomal Recessive
Color blindness
X-linked Recessive
Congenital Erythropoietic Porphyria (CEP)
Autosomal recessive
Deafness
Autosomal Recessive
Dentatorubral pallidoluysian atrophy
Autosomal dominant, trinucleotide/triplet repeat disorder
Dubin Johnson syndrome
Autosomal Recessive
Duchene muscular dystrophy
X-linked Recessive
Ehlers Danlos syndrome
Autosomal Dominant
Fabry’s disease
X-linked recessive
Factor VII deficiency
Autosomal recessive
Familial adenomatous polyposis (FAP)
Autosomal dominant
Familial glucocorticoid remediable aldosteronism (Familial GRA)
Autosomal dominant
Familial hyperchylomicronaemia (type I dyslipidaemia)
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
Autosomal recessive
Familial hypercholesterolemia (type IIA dyslipidaemia)
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
Autosomal dominant
Familial combined hyperlipidemia (FCHL) (Type IIB dyslipidaemia)
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
Autosomal dominant
Familial Remnant hyperlipidaemia/Broad-beta disease/Dysbetalipoproteinemia) (type III dyslipidaemia)
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
Autosomal dominant (mainly)
Familial primary hypertriglyceridaemia (Type IV dyslipidaemia)
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
Autosomal dominant
Familial mixed hypertriglyceridaemia (Type V dyslipidaemia)
(dyslipidaemia=hyperlipidaemia=hyperlipoproteinaemia)
Autosomal dominant/recessive
Familial mediterranean fever
Autosomal recessive
Familial Juvenile polyposis
Autosomal dominant
Fanconi anaemia/syndrome
Autosomal recessive
Friedreich’s ataxia
Autosomal recessive, trinucleotide/triplet repeat disorder
Fabry’s disease
X-linked recessive
Fragile X syndrome
Complex X-linked, Trinucleotide/triplet repeat disorder
G6PD deficiency
X-linked recessive
Gardner syndrome
Autosomal dominant
Galactosaemia
Autosomal recessive
Gaucher disease
Autosomal recessive
Gilbert’s syndrome
Autosomal recessive
(matter of debate, some says AD)
Gitelman’s syndrome
Autosomal recessive
Glycogen storage diseases
Autosomal recessive
Gunther disease
Autosomal recessive
Haemochromatosis
Autosomal recessive
Homocystinuria
Autosomal recessive
Hereditary haemorrhagic telacgiectasia ( = Osler Weber Rendu syndrome)
Autosomal dominant
Hereditary motor and sensory neuropathy (HMSN), including Charcot-Marie-Tooth disease
Autosomal dominant
Hereditary spherocytsis
Autosomal dominant
Hereditary non-polyposis colorectal carcinoma (HNPCC)
Autosomal dominant
Huntington’s disease
Autosomal dominant, triculeotide/triplet repeat disorder
Hyperlipidaemia type II
Autosomal dominant
Hypokalaemic periodic paralysis
Autosomal dominant
Haemophilia A, B
X-linked recessive
Hunter’s syndrome
X-linked recessive
Hurler’s syndrome
Autosomal recessive
Hypertrophic obstructive cardiomyopathy (HOCM)
Autosomal dominant
Incontinentia pigmenti
X-linked dominant
Inherited breast cancer
Autosomal dominant
Inherited ovarian cancer
Autosomal dominant
Inherited Dilated Cardiomyopathy (DCM)
Autosomal dominant
Kallman syndrome
X-linked recessive
Kennedy disease (Spinobulbar muscular atrophy, bulbospinal neuropathy)
X-linked recessive, trinucleotide/triplet repeat disorder
Kearns-sayre syndrome
Mitochondrial disease
Lesch-Nyhan syndrome
X-linked recessive
Limb-girdle muscular dystrophy
Autosomal recessive
Lipid storage diseases: Tay-Sach’s, Gaucher, Niemann-Pick
Autosomal recessive
LHON (Leber’s hereditary optic neuropathy)/ Leber’s optic atrophy
Mitochondrial disease
Liddle’s syndrome
Autosomal dominant
Li-Fraumani syndrome
Autosomal dominant
Lawrence-Moon-Biedl syndrome
Autosomal recessive
Maple syrup urine disease
Autosomal recessive
MELAS syndrome
Mitochondrial disease
MERRF syndrome
Mitochondrial disease
Mucopolysaccharidoses (except Hunter’s)
Autosomal recessive
Marfan syndrome
Autosomal dominant
MODY (Maturity onset diabetes mellitus)
Autosomal dominant
MEN (Multiple Endocrine Neoplasia)
Autosomal dominant
Myotonic dystrophy
Autosomal dominant, triculeotide/triplet repeat disorder
NARP (Neuropathy, Ataxia, Retinitis pigmentosa)
Mitochondrial disease
Noonan’s syndrome
Autosomal dominant
Nephrogenic diabetes insipidus
X-linked recessive,
(Sometimes autosomal recessive/dominant)
Niemann Pick disease
Autosomal recessive
Osteogenesis imperfecta
Autosomal dominant (Type I to V: main types)
(Further types: VI to XV can be AR, less common)
Ocular myopathy
Autosomal dominant
Pearson syndrome
Mitochondrial disease
Pendred’s syndrome
Autosomal recessive
Peutz-Jeghers syndrome
Autosomal dominant
Phenylketonuria, PKU
Autosomal recessive
Porphyria: Acute intermittent porphyria/Hepatic porphyrias
Autosomal dominant
Porphyria: PCT (Porphyria Cutanea Tarda)
Autosomal dominant
Porphyria: Variegate porphyria
Autosomal dominant
Porphyria: CEP (Congenital Erythropoietic porphyria)
Autosomal recessive
Protein C deficiency
Autosomal dominant
Pseudohypoparathyroidism
Autosomal dominant
Pseudoxanthoma elasticum
Autosomal Recessive
(Few cases are AD)
Retinoblastoma
Autosomal dominant
Romano-Ward syndrome
Autosomal dominant
Retinitis pigmentosa
X-linked recessive
(Also possible AR, AD, MD)
Rett syndrome
X-linked dominant
Ricket’s (vitamin D resistant ricket’s)
Rotor syndrome
Autosomal recessive
Spinocerebellar ataxia
Autosomal dominant, trinucleotide/triplet repeat disorder
Severe combined immunodeficiency (SCID)
X-linked recessive
Sickle cell anaemia
Autosomal recessive
Tay-Sach’s disease
Autosomal recessive
Thalassemias
Autosomal recessive
Tuberous sclerosis
Autosomal dominant
Usher’s syndrome
Mitochondrial disease
Von Hippel Lindau syndrome
Autosomal dominant
Von Willebrand’s disease
type 1 & 2: Autosomal dominant
type 3: Autosomal recessive
Wiskott-Aldrich syndrome
X-linked recessive
Wilson’s disease
Autosomal recessive
Wolf-Parkinson-White syndrome (WPW syndrome)
Autosomal dominant
