Genes Flashcards
ATPB8
PFIC 1 (Byler’s Disease)
ABCB11
PFIC 2
BSEP
PFIC 2
ABCB4
PFIC 3
MDR3
PFIC 3
UBR1
Johnson Blizzard Syndrome
MYO5B
Microvillus Inclusion Disease
ATPB7
Wilson’s disease
copper transporting ATPase
STK11
Peutz Jegher
SMAD-4
Juvenile Polyposis Syndrome
BMPR1A
Juvenile Polyposis Syndrome
APC
Familial Polysis Coli
PTEN
Cowden
Ghorlin
Bannayan-Riley-Ruvalcaba
Anti-mitochondrial Ab
primary biliary cholangitis/cirrhosis
ANA
Type I Autoimmune Hepatitis
Anti-Smooth Muscle Ab
Type I Autoimmune Hepatitis
Anti-Liver Kidney Microsomal 1 Ab
Type II Autoimmune Hepatitis
Anti- Liver Cytosol 1 Ab
Type II Autoimmune Hepatitis
Anti-Soluble Liver Ag
Autoimmune Hepatitis
More severe disease and worse prognosis
p-ANCA
Type 1 AIH
Sclerosing Cholangitis
UC
JAG 1/NOTCH 2
Alagille Syndrome (AD)
MRP2
Dubin-Johnson
ABCC2
Dubin-Johnson
SLC01B1
Rotor Syndrome
UGT1A1
Crigler Najjar
Gilbert
Anti-enterocyte Antibody
Autoimmune Enteropathy
CD40 L
Hyper IgM
Shwachman-Diamond syndrome
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.
Staining for Microvillus Inclusion Disease
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
