Name that Inheritance Pattern Flashcards by Becky Koscik

Autosomal dominant polycystic kidney disease

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flank pain + hematuria + hyperT + urinary infection + progressive renal failure + midsystolic click with crescendo murmur loudest at midclavicular line fifth intercostal space + benign hepatic cysts and potential for subarachnoid haemorrhage

Autosomal Dominant polycystic kidney disease

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Familial adenomatous polyposis

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colon covered in adenomatous polyps after puberty

increased risk of desmoid tumours

Familial adenomatous polyposis

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Familial hypercholesterolemia

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MI before age 20
elevated LDL and cholesterol > 300 (hetero) or 700+ (homozy)
corneal arcus
tendon xanthomas
accelerated atherosclerotic disease

Familial hypercholesterolemia

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Hereditary hemorrhagic telangiectasia

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branching skin lesions
recurrent epistaxis
skin discolouration
arteriovenosu malformations
gi bleeding
hematuria
telangiectasia commonly on dorsal surface of tongue

Hereditary hemorrhagic telangiectasia
AD
aka Osler-Weber-Rendu syndrome

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Hereditary spherocytosis

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increased RDW
increased risk of Calcium bilirubinate gallstones
splenomegaly
aplastic crisis with parvo B19 infection
normocytic anaemia with spherocytosis
increased MCHC
positive osmotic fragility test
Northern European patient

Hereditary spherocytosis

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Huntington Disease

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chorea, depression, progressive dementia, oculomotor abnormalities, later onset of parkinsonism
onset at 30-40 years old; younger age of onset with each generation
decrease ACh, GABA, increase DA
degeneration of caudate, putamen, globus pallidus
ANTICIPATION

Huntington disease

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Li-Fraumeni syndrome

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multiple cancers at < 50 years old

breast, colon, ovary, sarcoma, brain, leukemia, adrenal gland

Li-Fraumeni syndrome
AD
aka SLAB cancer syndrome

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Marfan Syndrome

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Tall with long extremities, pectus excavatum, hypermobile joints, arachnodactyly,
cystic medial necrosis of aorta – dissection and aneurysm, MVP, aortic regurgitation

Marfan Syndrome

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Multiple endocrine neoplasms

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high calcium, high PTH, low phosphate
elevated prolactin/bilateral hemianopsia
peptic ulcer

MEN I

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Neurofibromatosis type 1
aka
von Recklinghausen disease

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café-au-lait spots
optic gliomas, astrocytomas
subq and cutaneous neurofibromas
lisch nodules
pheochromocytoma, wilms tumor - HTN
juvenile CML
mild scoliosis
axillary and inguinal freckling
neurodevelopment problems

neurofibromatous type 1

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Neurofibromatous type II

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bilateral acoustic schwanomma
juvenile cataracts
menigiomas
ependymomas
spinal schwanommas

NF-II

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Tuberous sclerosis

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mental retardation and seizures in infancy
sub/periungal fibromas
angiofibromas on face
shagree/ash leaf/hypopigmentation on face
subependymal astrocyte proliferation
renal angiomyolipidoma
cardiac rhabdomyoma

Tuberous sclerosis

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von Hippel-Lindau disease

hemangioblastomas @ cerebellum (most common), spine, brain stem, retina (if here then think this disease) --> EPO angiomatous @ skin, mucosa bilateral renal cell carcinoma (paraneoplastics - EPO, ACTH, PTHrp) pheochromocytoma (also seen in: bonus point hurrah)

von Hippel-Lindau disease AD pheochromocytomas @ MEN2a MEN2b NF-1 and von HIppel-lindau disease

high calcitonin elevated Ca and PTH and low PO4 acute attacks of hypertension, dizziness tall with long extremities + arachnodactyly

AD | MEN2A

high calcitonin acute attachs of hyerptension, dizziness oral and intestinal mucosal neuromas tall with long extremities + arachnodactyly

AD | MEN2B

Albinism

ARPKD

Cystic Fibrosis

Glycogen storage diseases

Hemochromatosis

Karteneger Syndrome

Mucopolysaccharoidoses (except Hunters)

Phenylketouria

Sickle Cell Disease

Sphingolipidosis (except Fabry disease)

thalassemia

Wilson disease

Be Wise Fools GOLD Heeds HOpe

XLR

Brutons agammaglobulinemia

XLR

Wiskott-Aldrich Syndrome

XLR

Fabry Disease

XLR

G6PD deficiency

XLR

Ocular albinism

XLR

Lesch Nyhan

XLR

Duchenne Muscle Dystrophy

XLR

Becker Muscle Dystrophy

XLR

Hunter disease

XLR

Hemophilia A

XLR

hemophilia B

XLR

ornithine transcarbamylase deficiency

XLR

myotonic type 1

``` arrhtyhmias frontal balding testicular atrophy myotonia muscle wasting cataracts ```

myotonic type 1 AD (CTG)n

Huntington Disease

AD trinucleotide expansion (CAG)n

Fragile X

XLR trinucleotide expansion (CGG)n

Friedrich Ataxia

AR trinucleotide expansion (GAA)n

Myotonic Dystrophy

trinucleotide expansion | (CTG)n

hypertrophic cardiomyopathy loss of deep tendon reflexes, first in ankles loss of vibration and proprioception muscle weakness in legs

Friedrich ataxia AR (GAA)n FRATAXIN

Pyruvate dehydrogenase complex deficiency

x linked.

Essential fructosuria

autosomal recessive | fructose --> X fructokinase X --> fructose 1 phosphate

Fructose Intolerance

autosomal recessive | fructose 1 phosphate --> X aldolase B X --> dihydroxyacetone phosphate

``` vomiting hypoglycemia cirrhosis jaundice after eating fruit, juice, or honey ```

fructose intolerance autosomal recessive aldolase B no fructose 1p to DHAP conversion.

Galactokinase Deficiency

AR | no galactokinase

galactose in blood infantile cataracts may fail to track objects and develop a social smmile

galactokinase deficiency | AR

``` failure to thrive jaundice hepatosplenomegaly infantile cataracts intellectual disability e coli sepsis in neonates ```

classic galactosemia AR galactose-1-phosphate-uridyltransferase deficiency

ornithine transcarbomylase deficiency

XLR

enzymes in the urea cycle deficiencies except ornithine transcarbomylase

``` decreased BUN no megaloblastic anaemia vomiting somnolence cerebral oedema blurry vision slurred speech asterixis increased orotic acid in blood and urine ```

orotic transcarbomylase deficiency if megaloblastic anaemia present then orotic aciduria

``` intellectual disability growth retardartion seizures (also tuberous sclerosis) fair skin eczema musty body odour ```

PKU | AR

severe CNS defects intellectual disabilities death burnt sugar/maple syrup smelling urine

maple syrup urine disease alpha ketoacid dehydrogenase deficieincy AR

dark connective tissue brown pigmented sclerae urine turns black on prolonged exposure to air may have debilitating arthralgias

alkaptnouria/ochronosis AR homogentisate oxidase deficiency

``` intellectual disability osteoporosis marfanoid habitus kyphosis lens subluxation (down and in) thrombosis atherosclerosis (Stroke and MI risk) increased homocystein in urine ```

homocysteinuria AR a) cystathionine synthase def b) decreased cystathionine synthase affinity for B6y c) methionine synthase/homocysteine methyltransferase def

Type I familial dyslipidemia | Hyperchylomicronemia

AR altered CII LPLase deficiency

Type IIa familial dyslipidemia | hypercholesterolemia

AD | LDL receptor absence or deficiency

Type V familial dyslipidemia | hypertriglyceridemia

AD | increased hepatic production of VLDL

increased chylomicrons, TAGs, cholesterol * pancreatitis * hepatosplenomegaly * eruptive/pruritic xanthomas * no increased risk of atherosclerosis * creamy layer in supernatant

``` AR type I familial dyslipidemia hyperchylomicronemia altered CII function LPLase deficiency ```

increased LDL, cholesterol * accelerated atherosclerosis - risk of MI < 20 yo * tendon/Achilles xanthomas * corneal arcus

AD type IIa familial dyslipidemia hypercholesterolemia LDL receptor deficiency/altered f(x)

increased VLDL, TAGs | * acute pancreatitis

AD type IV familial dyslipidemia hypertriglyceridemia increased hepatic production of VLDL

Name that Inheritance Pattern Flashcards

(80 cards)