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peds gi > Genes > Flashcards

Genes Flashcards

1
Q

ATPB8

A

PFIC 1 (Byler’s Disease)

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2
Q

ABCB11

A

PFIC 2

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3
Q

BSEP

A

PFIC 2

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4
Q

ABCB4

A

PFIC 3

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5
Q

MDR3

A

PFIC 3

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6
Q

UBR1

A

Johnson Blizzard Syndrome

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7
Q

MYO5B

A

Microvillus Inclusion Disease

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8
Q

ATPB7

A

Wilson’s disease

copper transporting ATPase

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9
Q

STK11

A

Peutz Jegher

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10
Q

SMAD-4

A

Juvenile Polyposis Syndrome

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11
Q

BMPR1A

A

Juvenile Polyposis Syndrome

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12
Q

APC

A

Familial Polysis Coli

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13
Q

PTEN

A

Cowden
Ghorlin
Bannayan-Riley-Ruvalcaba

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14
Q

Anti-mitochondrial Ab

A

primary biliary cholangitis/cirrhosis

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15
Q

ANA

A

Type I Autoimmune Hepatitis

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16
Q

Anti-Smooth Muscle Ab

A

Type I Autoimmune Hepatitis

17
Q

Anti-Liver Kidney Microsomal 1 Ab

A

Type II Autoimmune Hepatitis

18
Q

Anti- Liver Cytosol 1 Ab

A

Type II Autoimmune Hepatitis

19
Q

Anti-Soluble Liver Ag

A

Autoimmune Hepatitis

More severe disease and worse prognosis

20
Q

p-ANCA

A

Type 1 AIH
Sclerosing Cholangitis
UC

21
Q

JAG 1/NOTCH 2

A

Alagille Syndrome (AD)

22
Q

MRP2

A

Dubin-Johnson

23
Q

ABCC2

A

Dubin-Johnson

24
Q

SLC01B1

A

Rotor Syndrome

25
Q

UGT1A1

A

Crigler Najjar

Gilbert

26
Q

Anti-enterocyte Antibody

A

Autoimmune Enteropathy

27
Q

CD40 L

A

Hyper IgM

28
Q

Shwachman-Diamond syndrome

A

Autosomal recessive condition and most mutations seen in this condition (up to 90% of reported cases) are located on chromosome 7q11 of the SDBS gene.
Bone marrow failure—either single-lineage cytopenia or multilineage
Exocrine pancreatic insufficiency
Osseous malformations that may include thoracic dystrophy, short stature, or metaphyseal dysplasia
These children often have excessive caloric intake and are frequently hungry but have very poor weight gain.

29
Q

Staining for Microvillus Inclusion Disease

A

Immunohistochemical staining to highlight the location of epithelial membrane components can be performed with CD-10, an antigen expressed in the brush border, or villin, a component of the microvillus core.

or PAS

peds gi (8 decks)

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