inheritance Flashcards by Evelyn Qin

Familial hypercholesterolemia

How well did you know this?

Not at all

Perfectly

osteogenesis imperfecta

How well did you know this?

Not at all

Perfectly

Menkes disease

X-linked recessive

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

How well did you know this?

Not at all

Perfectly

G6PD def

X-linked recessive

How well did you know this?

Not at all

Perfectly

Glycogen storage diseases

How well did you know this?

Not at all

Perfectly

MEN

How well did you know this?

Not at all

Perfectly

Hemochromatosis

How well did you know this?

Not at all

Perfectly

Albinism

How well did you know this?

Not at all

Perfectly

Familial adenomatous polyposis

How well did you know this?

Not at all

Perfectly

Achondroplasia

How well did you know this?

Not at all

Perfectly

Hereditary spherocytosis

How well did you know this?

Not at all

Perfectly

Wilson disease

How well did you know this?

Not at all

Perfectly

PKU

How well did you know this?

Not at all

Perfectly

NF1 and 2

How well did you know this?

Not at all

Perfectly

VHL

How well did you know this?

Not at all

Perfectly

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)