Inheritance Flashcards
Alport syndrome
X Linked Dominant
Fabry Disease
X Linked Recessive
Menke’s Disease
X Linked Recessive
Becker Muscular Dystrophy
X Linked Recessive
Fragile X syndrome
X Linked Dominant
Hemophilia B
X Linked Recessive
Kartagener syndrome
Autosomal Recessive
Hypophosphatemic Rickets
X Linked Dominant
Acute Intermittent Porphyria
Autosomal Dominant
MELAS
Mitochondrial Inheritance
Mitochondrial myopathy, Encephalopathy, lactic acidosis, and stroke like episodes
Pyruvate Dehydrogenase Complex Deficiency
X Linked Recessive
Hereditary spherocytosis
Autosomal Dominant
Ocular Albinism
X Linked Recessive
Mucopolysaccharides (one exception what is it)
Autosomal Recessive (exception: Hunter syndrome- X linked recessive)
Hyper IgM syndrome
X Linked Recessive
Phenylketonuria
Autosomal Recessive
Albinism
Autosomal Recessive
Duchenne Muscular dystrophy
X Linked Recessive
Hemophilia A
X Linked Recessive
Sideroblastic anemia
ALA synthase gene defect
Lesch-Nyhan Syndrome
X Linked Recessive
Cystic Fibrosis
Autosomal Recessive
von Hippel-Lindau disease
Autosomal Dominant
Ornithine Transcarbamylase Deficiency
X Linked Recessive
Wilson Disease
Autosomal Recessive
SCID (most common cause)
X Linked Recessive
Bruton Agammaglobulinemia
X Linked Recessive
Chronic Granulomatous disease
X Linked Recessive
Thalassemias
Autosomal Recessive
Familial Hypercholesterolemia
Autosomal Dominant
Hunter Syndrome
X Linked Recessive
Hemochromatosis
Autosomal Recessive
Hereditary hemorrhagic telangiectasia
Autosomal Dominant
Sphingolipidoses (one exception what is it)
Autosomal Recessive (exception: Fabry Disease- X linked recessive)
Neurofibromatosis Type 2
Autosomal Dominant
Li-Fraumeni syndrome
Autosomal Dominant
Tuberous sclerosis
Autosomal Dominant
Neurofibromatosis Type 1 (von Recklinghausen disease)
Autosomal Dominant
Huntington disease
Autosomal Dominant
G6PD Deficiency
X Linked Recessive
Achondroplasia
Autosomal Dominant
Leigh syndrome
Mitochondrial Inheritance
Red Green Color Blindness
X Linked Recessive
Sickle Cell Anemia
Autosomal Recessive
Adrenoleukodystrophy
X Linked Recessive
IPEX
X Linked Recessive
Immune dysregulation polyendocrinopathy Enteropathy X linked syndrome
Glycogen storage diseases
Autosomal Recessive
Multiple Endocrine Neoplasias
Autosomal Dominant
Wiskott Aldrich Syndrome
X Linked Recessive
Marfan syndrome
Autosomal Dominant
FAP
Autosomal Dominant
