Miller review- Genetic disorder rapid fire Flashcards Preview

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Flashcards in Miller review- Genetic disorder rapid fire Deck (26)
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1

Talbe of pediatric congenitla disorders

2

Achondroplasia

FGF3

3

Hypochondroplasia

FGF3

4

Thantophoric Dysplasia

FGFR3

5

Pseudoachondroplasia

COMP

6

MED type 1

COMP

7

MED type type2 

Collagen type 9

8

SED

Collagen type II

9

Kniest Syndrome

Collagen type Ii

10

Stickler Syndrome

Collagen type Ii

11

Diastrophic Dysplasia

Sulfate transporter Gene

12

Schmid metaphyseal chondrodysplasia

Collagen type 10

13

Jansen Metaphseal chondrodysplasia

PTHRP

 

Blood levels of parathyroid hormone (PTH) are undetectable, but the mutation in the PTH1R leads to auto-activation of the signaling as though the hormone PTH is present. Severe JMC produces a dwarfing phenotype, or short stature. Examination of the bone reveals normal epiphyseal plates but disorganized metaphyseal regions. Hypercalcemia (elevated levels of calcium in the blood) and hypophosphatemia (reduced blood levels of phosphate), and elevated urinary calcium and phosphate, are generally found in JMC. The absence of hypercalcemia does not eliminate the disease from consideration.

14

Craniosynostosis/Apert

FGFr2

15

Cleidocranial dysplasia

CBFA1 RUNX

16

Hypophosphatemic Rickets

PEX

 

is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow-leggedness). It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein.

17

Marfan Syndrome

Fibrillin-1

18

Ethlers Danlos

collagen type 1

can also include collagen type 5 and 4

19

Duchenne

Beckers

Dystrophin Gene

20

Limb Girdle dystrophies

Sarcoglycan and dystroglycan complex

21

CMT disease

PMP22

22

Spinal muscular Atrophy

Survival motor neuron protein

23

myotonic dystrophy

myotonin

24

Fredrich Ataxia

frataxin

25

Neurofibromatosis

Neurofibromin

26

Mccune Albright sydrome

cAMP