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Biochemistry - step > Name that Inheritance Pattern > Flashcards

Name that Inheritance Pattern Flashcards

1
Q

Autosomal dominant polycystic kidney disease

A

AD

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2
Q

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

A

Autosomal Dominant polycystic kidney disease

AD

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3
Q

Familial adenomatous polyposis

A

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4
Q

colon covered in adenomatous polyps after puberty

increased risk of desmoid tumours

A

Familial adenomatous polyposis

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5
Q

Familial hypercholesterolemia

A

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6
Q 
MI before age 20
elevated LDL and cholesterol > 300 (hetero) or 700+ (homozy)
corneal arcus
tendon xanthomas
accelerated atherosclerotic disease
A

Familial hypercholesterolemia

AD

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7
Q

Hereditary hemorrhagic telangiectasia

A

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8
Q 
branching skin lesions
recurrent epistaxis
skin discolouration
arteriovenosu malformations
gi bleeding
hematuria
telangiectasia commonly on dorsal surface of tongue
A

Hereditary hemorrhagic telangiectasia
AD
aka Osler-Weber-Rendu syndrome

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9
Q

Hereditary spherocytosis

A

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10
Q 
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
A

Hereditary spherocytosis

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11
Q

Huntington Disease

A

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12
Q

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

A

Huntington disease

AD

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13
Q

Li-Fraumeni syndrome

A

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14
Q

multiple cancers at < 50 years old

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

A

Li-Fraumeni syndrome
AD
aka SLAB cancer syndrome

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15
Q

Marfan Syndrome

A

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16
Q

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

A

Marfan Syndrome

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17
Q

Multiple endocrine neoplasms

A

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18
Q

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

A

AD

MEN I

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19
Q

Neurofibromatosis type 1
aka
von Recklinghausen disease

A

AD

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20
Q 
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
A

neurofibromatous type 1

AD

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21
Q

Neurofibromatous type II

A

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22
Q 
bilateral acoustic schwanomma
juvenile cataracts
menigiomas
ependymomas
spinal schwanommas
A

NF-II

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23
Q

Tuberous sclerosis

A

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24
Q

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

A

Tuberous sclerosis

AD

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25
Q

von Hippel-Lindau disease

A

AD

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26
Q

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)

A

von Hippel-Lindau disease
AD

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

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27
Q

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

A

AD

MEN2A

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28
Q

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

A

AD

MEN2B

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29
Q

Albinism

A

AR

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30
Q

ARPKD

A

AR

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31
Q

Cystic Fibrosis

A

AR

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32
Q

Glycogen storage diseases

A

AR

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33
Q

Hemochromatosis

A

AR

34
Q

Karteneger Syndrome

A

AR

35
Q

Mucopolysaccharoidoses (except Hunters)

A

AR

36
Q

Phenylketouria

A

AR

37
Q

Sickle Cell Disease

A

AR

38
Q

Sphingolipidosis (except Fabry disease)

A

AR

39
Q

thalassemia

A

AR

40
Q

Wilson disease

A

AR

41
Q

Be Wise Fools GOLD Heeds HOpe

A

XLR

42
Q

Brutons agammaglobulinemia

A

XLR

43
Q

Wiskott-Aldrich Syndrome

A

XLR

44
Q

Fabry Disease

A

XLR

45
Q

G6PD deficiency

A

XLR

46
Q

Ocular albinism

A

XLR

47
Q

Lesch Nyhan

A

XLR

48
Q

Duchenne Muscle Dystrophy

A

XLR

49
Q

Becker Muscle Dystrophy

A

XLR

50
Q

Hunter disease

A

XLR

51
Q

Hemophilia A

A

XLR

52
Q

hemophilia B

A

XLR

53
Q

ornithine transcarbamylase deficiency

A

XLR

54
Q

myotonic type 1

A

AD

55
Q 
arrhtyhmias
frontal balding
testicular atrophy
myotonia
muscle wasting
cataracts
A

myotonic type 1
AD
(CTG)n

56
Q

Huntington Disease

A

AD
trinucleotide expansion
(CAG)n

57
Q

Fragile X

A

XLR
trinucleotide expansion
(CGG)n

58
Q

Friedrich Ataxia

A

AR
trinucleotide expansion
(GAA)n

59
Q

Myotonic Dystrophy

A

trinucleotide expansion

(CTG)n

60
Q

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

A

Friedrich ataxia
AR
(GAA)n
FRATAXIN

61
Q

Pyruvate dehydrogenase complex deficiency

A

x linked.

62
Q

Essential fructosuria

A

autosomal recessive

fructose –> X fructokinase X –> fructose 1 phosphate

63
Q

Fructose Intolerance

A

autosomal recessive

fructose 1 phosphate –> X aldolase B X –> dihydroxyacetone phosphate

64
Q 
vomiting
hypoglycemia
cirrhosis
jaundice
after eating fruit, juice, or honey
A

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

65
Q

Galactokinase Deficiency

A

AR

no galactokinase

66
Q

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

A

galactokinase deficiency

AR

67
Q 
failure to thrive
jaundice
hepatosplenomegaly
infantile cataracts
intellectual disability
e coli sepsis in neonates
A

classic galactosemia
AR
galactose-1-phosphate-uridyltransferase deficiency

68
Q

ornithine transcarbomylase deficiency

A

XLR

69
Q

enzymes in the urea cycle deficiencies except ornithine transcarbomylase

A

AR

70
Q 
decreased BUN
no megaloblastic anaemia
vomiting
somnolence
cerebral oedema
blurry vision
slurred speech
asterixis
increased orotic acid in blood and urine
A

orotic transcarbomylase deficiency if megaloblastic anaemia present then orotic aciduria

71
Q 
intellectual disability
growth retardartion
seizures (also tuberous sclerosis)
fair skin
eczema
musty body odour
A

PKU

AR

72
Q

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

A

maple syrup urine disease
alpha ketoacid dehydrogenase deficieincy
AR

73
Q

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

A

alkaptnouria/ochronosis
AR
homogentisate oxidase deficiency

74
Q 
intellectual disability
osteoporosis
marfanoid habitus
kyphosis
lens subluxation (down and in)
thrombosis
atherosclerosis (Stroke and MI risk)
increased homocystein in urine
A

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

75
Q

Type I familial dyslipidemia

Hyperchylomicronemia

A

AR
altered CII
LPLase deficiency

76
Q

Type IIa familial dyslipidemia

hypercholesterolemia

A

AD

LDL receptor absence or deficiency

77
Q

Type V familial dyslipidemia

hypertriglyceridemia

A

AD

increased hepatic production of VLDL

78
Q

increased chylomicrons, TAGs, cholesterol

  • pancreatitis
  • hepatosplenomegaly
  • eruptive/pruritic xanthomas
  • no increased risk of atherosclerosis
  • creamy layer in supernatant
A 
AR
type I familial dyslipidemia
hyperchylomicronemia
altered CII function
LPLase deficiency
79
Q

increased LDL, cholesterol

  • accelerated atherosclerosis - risk of MI < 20 yo
  • tendon/Achilles xanthomas
  • corneal arcus
A

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

80
Q

increased VLDL, TAGs

* acute pancreatitis

A

AD
type IV familial dyslipidemia
hypertriglyceridemia
increased hepatic production of VLDL

Biochemistry - step (4 decks)

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