Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Ziliopathie

Unter Ziliopathie werden Erkrankungen ähnlichen Phenotyps zusammengefasst deren pathogenetische Gemeinsamkeit Störungen des zellulären Ziliums sind.

Symptome

Retinadystrophie
Ziliopathien können mit einer Retinadystrophie unterschiedlichster Schweregrade einhergehen.

Gliederung

Komplex medullärer Zystennierenerkrankungen
Medulläre Nierenzysten
Nephronophthise
Senior-Loken-Syndrom
Ziliopathie
COACH-Syndrom
CC2D2A
RPGRIP1L
TMEM67
Joubert-Syndrom
Joubert-Syndrom 3
AHI1
Joubert-Syndrom 6
TMEM67
Joubert-Syndrom 7
RPGRIP1L
Joubert-Syndrom 9
CC2D2A
Joubert-Syndroms 11
TTC21B
Joubert-Syndroms 19
ZNF423
SUFU
Lebersche kongenitale Amaurose
Lebersche kongenitale Amaurose 01
GUCY2D
Lebersche kongenitale Amaurose 02
RPE65
Lebersche kongenitale Amaurose 03
SPATA7
Lebersche kongenitale Amaurose 04
AIPL1
Lebersche kongenitale Amaurose 05
LCA5
Lebersche kongenitale Amaurose 06
RPGRIP1
Lebersche kongenitale Amaurose 07
CRX
Lebersche kongenitale Amaurose 08
CRB1
Lebersche kongenitale Amaurose 09
NMNAT1
Lebersche kongenitale Amaurose 10
CEP290
Lebersche kongenitale Amaurose 11
IMPDH1
Lebersche kongenitale Amaurose 12
RD3
Lebersche kongenitale Amaurose 13
RDH12
Lebersche kongenitale Amaurose 14
LRAT
Lebersche kongenitale Amaurose 15
TULP1
Lebersche kongenitale Amaurose 16
KCNJ13
Lebersche kongenitale Amaurose 17
GDF6
Lebersche kongenitale Amaurose 18
PRPH2
Malformationen der Rechts-Links-Achse
LEFTY2
Meckel-Syndrom
Meckel-Syndrom 3
TMEM67
Meckel-Syndrom 5
RPGRIP1L
Meckel-Syndrom 6
CC2D2A
Nephronophthise
Nephronophthise 1
NPHP1
Nephronophthise 10
SDCCAG8
Nephronophthise 11
TMEM67
Nephronophthise 12
TTC21B
Nephronophthise 13
WDR19
Nephronophthise 14
ZNF423
Nephronophthise 15
CEP164
Nephronophthise 16
ANKS6
Nephronophthise 17
IFT172
Nephronophthise 18
CEP83
Nephronophthise 19
DCDC2
Nephronophthise 2
INVS
Nephronophthise 3
NPHP3
Nephronophthise 4
NPHP4
Nephronophthise 5
IQCB1
Nephronophthise 6
CEP290
Nephronophthise 7
GLIS2
Nephronophthise 8
RPGRIP1L
Nephronophthise 9
NEK8
Primäre ziliäre Dyskinesie 3 mit oder ohne Situs inversus
DNAH5
SRTD-Syndrom (Short-rib thoracic dysplasia) 10
IFT172
SRTD-Syndrom (Short-rib thoracic dysplasia) 9
IFT140
Senior-Loken-Syndrom
Senior-Loken-Syndrom 1
NPHP1
Senior-Loken-Syndrom 3
NPHP3
Senior-Loken-Syndrom 4
NPHP4
Senior-Loken-Syndrom 5
IQCB1
Senior-Loken-Syndrom 6
CEP290
Senior-Loken-Syndrom 7
SDCCAG8
Senior-Loken-Syndrom 8
WDR19
Senior-Loken-Syndrom 9
TRAF3IP1

Referenzen:

1.

Tan MH et. al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.

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2.

Habbig S et. al. (2015) Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function.

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3.

Lee H et. al. (2015) Primary cilia in energy balance signaling and metabolic disorder.

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4.

Megaw RD et. al. (2015) RPGR: Its role in photoreceptor physiology, human disease, and future therapies.

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5.

Falk N et. al. (2015) Specialized Cilia in Mammalian Sensory Systems.

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6.

Brown JM et. al. (2014) Cilia and Diseases.

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7.

Praveen K et. al. (2015) Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.

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8.

Szymanska K et. al. (2014) Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

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