Endocrine genetics Flashcards
(30 cards)
1
Q
ACC gene
A
TP53
2
Q
APS1 gene
A
AIRE
3
Q
CNC Carney complex gene
A
PRKAR1A
4
Q
PPNAD gene
A
PRKAR1A, PDE11A
5
Q
Congenital 21-OH CAH gene
A
CYP21A1
6
Q
HPTH gene
A
CDC73
7
Q
Neonatal hyperparathyroidism gene
A
CASR
8
Q
FHH gene
A
CASR, GNA11, AP2s21
9
Q
Pseudohypoparathyroidism gene
A
GNAS
10
Q
Autosomal dominant hypophosphatemic rickets gene
A
FGF23
11
Q
XLH gene
A
PHEX
12
Q
Combined pituitary hormone deficiency genes
A
PROP1
POU1F1
HESX1
13
Q
Familial isolated pituitary adenoma gene
A
AIP
14
Q
MODY 1 gene
A
HNF1A
15
Q
MODY 2 gene
A
GCK
16
Q
MODY 3 gene
A
HNF4A
17
Q
Familial hyperinsulinemic hypoglycemia/congenital hyperinsulinism
A
ABCC8
KCNJ11
18
Q
MEN1 gene
A
MEN1
19
Q
MEN1 pattern of inheritance
A
autosomal dominant
20
Q
MEN2 gene
A
RET
21
Q
MEN2 pattern of inheritance
A
autosomal dominant
22
Q
MEN3 gene
A
?
23
Q
MEN 4 gene
A
CDKN1B
24
Q
von Hippel-Lindau gene
A
VHL
25
Paraganglioma/pheo gen
```
MAX
SDHa
SDHAF2
SDHB
etc...
```
26
McCune-Albright syndrome gene
GNAS1
27
McCune-Albright endocrine associations
```
Cafe au lait spots
GnRH-independent precocious puberty
Fibrous dysplasia
Acromegaly
Thyroid dysfunction
Hypercortisolism (adrenal nodularity)
Hypophosphatemic ricketts
```
28
pseudohypoparathyroidism 1a genetic defect
GNAS loss of function
29
pseudohypoparathyroidism 1b genetic defect
GNAS regulatory element (rather than GNAS itself)
30
pseudohypoparathyroidism 1c genetic defect
abnormality in G-protein receptor coupling to PTH receptor
