Other genetic diseases Flashcards
Albinism
Autosomal recessive
Cystic fibrosis
Autosomal recessive
Glycogen storage diseases
Autosomal recessive
Hemochromatosis
Autosomal recessive
Kartagener syndrome
Autosomal recessive
Mucopolysaccharidoses
Autosomal recessive
Except hunters
Phenylketonuria
Autosomal recessive
Sickle cell anemia
Autosomal recessive
Sphingolipidoses
Autosomal recessive
Except Fabry
Thalassemias
Autosomal recessive
Wilson Disease
Autosomal recessive
Bruton agammaglobulinemia
X-linked recessive
Wiskott-Aldrich syndrome
X-linked recessive
Thrombocytopenic purpura, eczema, recurrent infections
Fabry Disease
X-linked recessive
G6PD deficiency
X-linked recessive
Ocular albinism
X-linked recessive
Lesch-Nyhan
X-linked recessive
Duchenne (and Becker) muscular dystrophy
X-linked recessive
Hunter Syndrome
X-linked recessive
Hemophilia A and B
X-linked recessive
Ornithine transcarbamylase deficiency
X-linked recessive
Huntington Disease
Trinucleotide repeat expansion disease
CAG
Fragile X
Trinucleotide repeat expansion disease
CGG
Friedreich ataxia
Trinucleotide repeat expansion disease
GAA
Myotonic dystrophy
Trinucleotide repeat expansion disease
CTG
Cri-du-chat syndrome
Congenital microdeletion of short arm of chromosome 5
Microcephaly, moderate to severe intellectual disability, epicanthal folds, cardiac abnormalities (VSD)
Williams syndrome
Congenital microdeletion of long arm of chromosome 7 (deleted region includes elastin gene)
“Elfin” facies, intellectual disability, hypercalcemia (increased sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, CV problems
22q11 deletion syndromes
Cleft palate, abnormal facies, thymic apalsia (T cell deficiency), cardiac defects, hypocalcemia secondary to parathyroid aplasia
DiGeorge: thymic, parathyroid, cardiac defects
Velocardiofacial syndrome: palate, facial, and cardiac defects
