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Biochemical Genetics > Cholesterol Synthesis Disorders and Dyslipidemias > Flashcards

Cholesterol Synthesis Disorders and Dyslipidemias Flashcards

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Biology 101 flashcards
1
Q

Antley-Bixler Syndrome inheritance and gene

A

AR; POR

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2
Q

ABS Features

A

Skeletal- cranio, arthrogryposis
Endocrine- genital, cortisol def.
Dysplastic ears, renal anomalies, heart defects

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3
Q

CHILD Syndrome inheritance and gene

A

XLD; NSDHL

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4
Q

CHILD Syndrome Features

A

Ichthyosis (one side)
Ipsilateral limb defect
Normal intellect

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5
Q

2 types NSDHL-Related Disorders

A

CHILD Syndrome

CK Syndrome

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6
Q

CK syndrome inheritance and gene

A

XLR, NSDHL

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7
Q

CK syndrome Features

A 
Cognitive/behavioral problems
CNS cortisol malformation
Distinct face
Infantile seizures 
Thin body habitus
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8
Q

CDPX2 inheritance and gene

A

XLD; EBP

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9
Q

CDPX2 Features1

A

Distinct craniofacial appearance
Skeletal changes
Ectodermal changes
Ocular cataract, micropthalamia

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10
Q

SLO inheritance and gene

A

AR; DHCR7

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11
Q

SLC Features

A

Growth and MR
Dysmorphic features (2-3 syndactyly)
MCA

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12
Q

Niemann Pick Type C inheritance and gene

A

AR; NPC1/NPC2

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13
Q

Niemann Pick Features

A

Progressive Neurodegeneration
VSGP
Ataxia, dystharia, dystonia

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14
Q

Familial Hypercholesterolemia inheritance and gene

A

AR; LDLR (APOB, PSCK9)

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15
Q

Familial Hypercholesterolemia Features

A

Elevated LDL and cholesterol
Xanthomas
Xanthelamas
Arches Juveniles

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16
Q

Best Treatment for Familial Hypercholesterolemia

A

Statins

17
Q

Familial Lipoprotein Lipase Deficiency inheritance and gene

A

AR; LPL

18
Q

Familial Lipoprotein and Lipase Deficiency Features

A

Recurrent abdominal pain
Pancreatitis
Hepatosplenomegaly
Xanthomas

19
Q

Dysbetalipoproteinemia inheritance and gene

A

AR; APOE2

20
Q

Dysbetaliopproteinemia Features

A

Cardiovascular and peripheral vascular disease

Palmar xanthomas

21
Q

Lecithin Cholesterol Acyl-Transferase Deficiency inheritance and gene

A

AR; LCAT

22
Q

Lecithin Cholesterol Acyl-Transferase Deficiency Features

A

Renal Failure
Corneal Opacities
Anemia

23
Q

Hypo/Abetaliproteinemia inheritance and gene

A

AR; MTP/APOB

24
Q

Hypo/Abetaliproteinemia Features

A 
Fat malabsorption
Growth failure
Ataxia 
Retinitis Pigmentosa 
Acanthicytic RBCs

Biochemical Genetics (9 decks)

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