1

- Gaucher
- L-myc gene
(involved in small
cell carcinoma)
- Presenilin 2 (Alz)
2

3
- Von Hippel Lindau
(VHL)

- Hun!ing!on ("AG)
- Achondroplasia
(#G#$3 gene)
%
- "ri-&u-"ha! (%p-)
- AP" (#AP)
'
H#( gene
Hemochroma!-
osis
)
- "ys!ic #i*rosis
("#+$)
,
- "-myc gene
(involved in
-ur.i!!/s
lymphoma)
0
- P 1' +umor
suppressor gene
(1elanoma)
- #riedreich/s A!a2ia
(#ra!a2in gene
GAA !riple repea!s)
13 11
- 4iemman Pic.
(sphingomyelinase)
- -e!a Glo*in "hain
(-+hal)
- -"L-1 Gene
(cyclin &)
12
13
- Pa!au +risomy
- $- Gene
(re!ino*las!oma
and
os!eosarcoma)
- -$"A 2
1
- Presenilin 1
(alzheimer)
1%
- +ay-5achs
(He2osaminidase A)
- 1ar6an (#-41)
- Prader-7illi 8
Angelman
(imprin!ing)
1'
- P"9&1 (polycys!ic
.idney disease :
polycys!in1)
- ; Glo*in "hain
(Alpha +hal)
- +u*erous
5clerosis (+5"2)
1)
- 4#1
(4euro6i*roma!osis
!ype 1 : Von
$ec.lingHausen)
- P %3
--$"A 1
1,
- (d<ards
+risomy
- -"L 2
- &"" (colon)
10
- #amilial Hyper
"holes!erolemia
(L&L $ecep!or
mu!a!ion)
23 21
- &o<n/s +risomy
- --APP Pro!ein
(Alzheimer)
- 5=&1 (supero2ide
dismu!ase : al!ered
in AL5)
22
- 4#2
(4euro6i*roma!osis
2 : 1erlin pro!ein)
- &iGeorge 5yn>
(locus 11 dele!ion)
23
Baronerocks.com
?
- 1en.es 5yndrome (A+P)A
"opper (66lu2 Pro!ein)
- #ragile ? 5yndrome
("GG on gene #1$-1)
- -ru!on/s (-+9 gene)
Agammaglo*ulinemia
- Lesch-4yhan (HP$+1)
- 7is.o!! Aldrich
(7A5P Pro!ein)
-5"@& (@L recep!or mu!a!ion)
- &uchenne 1& (&ys!rophin)
- Alpor!s ("=LA%)
- Hemophilia A8- (#,80)
Auan!i!a!ive 5e2ual
"hromosome &iseases
- 9line6el!er 5yndrome ??B
(-arr -ody)
- +urner 5yndrome ?=
(5ho2 Gene)
B
-aroneroc.s>com
+ransloca!ions
0C22 C Philadelphia (-cr-A*l over e2pression> P2139& +yrosine 9inase> @n "1L i!
provides *e!!er prognosisD in ALL i! provides <ors! prognosis>)
,C1 C -ur.i!!/s Lymphoma ("-myc gene over e2pression)
11C1 C 1an!le "ell Lymphoma (-cl-1 gene A.a "yclin &)
1C1, C #ollicular 4HL (-cl-2)
1%C1) C A1L 13 (Auer $odsD &@")
11C22 C (<ing/s 5arcoma
12C21 C Provides *e!!er prognosis in ALL