inheritance Flashcards by Evelyn Qin

Familial hypercholesterolemia

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osteogenesis imperfecta

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Menkes disease

X-linked recessive

impaired copper absorption and transport (defective ATP7A0 –> kinky hair, growth retardation, hypotonia

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G6PD def

X-linked recessive

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Glycogen storage diseases

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MEN

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Hemochromatosis

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Albinism

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Familial adenomatous polyposis

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Achondroplasia

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Hereditary spherocytosis

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Wilson disease

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PKU

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NF1 and 2

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VHL

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Kartagener syndrome

Hemophilia A and B

X-linked recessive

Lesch-Nyhan syndrome

X-linked recessive

Fragile X syndrome

X-linked dominant

Duchenne and Becker muscular dystrophy

X-linked recessive

Conditions with polygenic inheritance

Androgenetic alopecia
Epilepsy
Glaucoma
HTN
Ischemic heart disease
Schizophrenia
T2DM

Leber hereditary optic neuropathy

Mitochondrial inheritance

MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes)

Mitochondrial

Myoclonic epilepsy with ragged red mm fibers

mitochondrial

Fabry's disease

X-linked recessive (other lysosomal storage d/o that is XR is Hunter's)