Cystic kidney disease

This group includes kidney diseases where renal cysts are the cardinal symptom and the predominant cause of progressive renal failure.

Diagnosis

The diagnosis of cystic kidney diseases is made by diagnostic imaging. Because the typical morphological signs become apparent late in the course of the disease, molecular genetic analysis and family screening has gained an important role in early diagnosis and kidney donor selection.

Systematic

Hereditary kidney diseases
	Congenital abnormalities of the kidney and urinary tract
	Cystic kidney disease
		Alagille syndrome 2
			NOTCH2
		Autosomal dominant polycystic kidney disease
			Polycystic kidney disease 1
				PKD1
			Polycystic kidney disease 2
				PKD2
			Polycystic kidney disease 3
				GANAB
			Polycystic kidney disease 6
				DNAJB11
		Autosomal recessive polycystic kidney and hepatic disease 1
			Polycystic kidney disease 4
				PKHD1
			Polycystic kidney disease 5
				DZIP1L
		Branchiootorenal dysplasia
			Branchiootorenal dysplasia 1
				EYA1
			Branchiootorenal dysplasia 2
				SIX5
			SIX2
			Townes-Brocks branchiootorenal-like syndrome
				SALL1
		Glomerulocystic kidney disease with hyperuricemia and isosthenuria
			HNF1B
			UMOD
		Hajdu-Cheney syndrome
			NOTCH2
		Medullary cystic disease complex
			Ciliopathy
				Acrocallosal syndrome
					KIF7
				COACH syndrome
					CC2D2A
					RPGRIP1L
					TMEM67
				Cranioectodermal dysplasia
					Cranioectodermal dysplasia 1
						IFT122
					Cranioectodermal dysplasia 2
						WDR35
					Cranioectodermal dysplasia 3
						IFT43
					Cranioectodermal dysplasia 4
						WDR19
				Joubert syndrome
					Joubert syndrome 01
						INPP5E
					Joubert syndrome 02
						TMEM216
					Joubert syndrome 03
						AHI1
					Joubert syndrome 04
						NPHP1
					Joubert syndrome 05
						CEP290
					Joubert syndrome 06
						TMEM67
					Joubert syndrome 07
						RPGRIP1L
					Joubert syndrome 08
						ARL13B
					Joubert syndrome 09
						CC2D2A
					Joubert syndrome 10
						OFD1
					Joubert syndrome 11
						TTC21B
					Joubert syndrome 12
						KIF7
					Joubert syndrome 13
						TCTN1
					Joubert syndrome 14
						TMEM237
					Joubert syndrome 15
						CEP41
					Joubert syndrome 16
						TMEM138
					Joubert syndrome 17
						CPLANE1
					Joubert syndrome 18
						TCTN3
					Joubert syndrome 19
						ZNF423
					Joubert syndrome 20
						TMEM231
					Joubert syndrome 21
						CSPP1
					Joubert syndrome 22
						PDE6D
					Joubert syndrome 23
						KIAA0586
					Joubert syndrome 24
						TCTN2
					Joubert syndrome 25
						CEP104
					Joubert syndrome 26
						KIAA0556
					Joubert syndrome 27
						B9D1
					Joubert syndrome 28
						MKS1
					Joubert syndrome 29
						TMEM107
					Joubert syndrome 30
						ARMC9
					Joubert syndrome 31
						CEP120
					Joubert syndrome 32
						SUFU
					Joubert syndrome 33
						PIBF1
					Joubert syndrome 34
						B9D2
					Joubert syndrome 35
						ARL3
				Leber congenital amaurosis
					Leber congenital amaurosis 01
						GUCY2D
					Leber congenital amaurosis 02
						RPE65
					Leber congenital amaurosis 03
						SPATA7
					Leber congenital amaurosis 04
						AIPL1
					Leber congenital amaurosis 05
						LCA5
					Leber congenital amaurosis 06
						RPGRIP1
					Leber congenital amaurosis 07
						CRX
					Leber congenital amaurosis 08
						CRB1
					Leber congenital amaurosis 09
						NMNAT1
					Leber congenital amaurosis 10
						CEP290
					Leber congenital amaurosis 11
						IMPDH1
					Leber congenital amaurosis 12
						RD3
					Leber congenital amaurosis 13
						RDH12
					Leber congenital amaurosis 14
						LRAT
					Leber congenital amaurosis 15
						TULP1
					Leber congenital amaurosis 16
						KCNJ13
					Leber congenital amaurosis 17
						GDF6
					Leber congenital amaurosis 18
						PRPH2
				Left-right axis malformations
					LEFTY2
				Meckel syndrome
					Meckel syndrome 02
						TMEM216
					Meckel syndrome 03
						TMEM67
					Meckel syndrome 05
						RPGRIP1L
					Meckel syndrome 06
						CC2D2A
					Meckel syndrome 08
						TCTN2
					Meckel syndrome 09
						B9D1
					Meckel syndrome 10
						B9D2
					Meckel syndrome 11
						TMEM231
					Meckel syndrome 13
						TMEM107
				Mental retardation, truncal obesity, retinal dystrophy and micropenis
					INPP5E
				Nephronophthisis
					Nephronophthisis 01
						NPHP1
					Nephronophthisis 02
						INVS
					Nephronophthisis 03
						NPHP3
					Nephronophthisis 04
						NPHP4
					Nephronophthisis 05
						IQCB1
					Nephronophthisis 06
						CEP290
					Nephronophthisis 07
						GLIS2
					Nephronophthisis 08
						RPGRIP1L
					Nephronophthisis 09
						NEK8
					Nephronophthisis 10
						SDCCAG8
					Nephronophthisis 11
						TMEM67
					Nephronophthisis 12
						TTC21B
					Nephronophthisis 13
						WDR19
					Nephronophthisis 14
						ZNF423
					Nephronophthisis 15
						CEP164
					Nephronophthisis 16
						ANKS6
					Nephronophthisis 17
						IFT172
					Nephronophthisis 18
						CEP83
					Nephronophthisis 19
						DCDC2
					Nephronophthisis 20
						MAPKBP1
					Nephronophthisis-like nephropathy 1
						XPNPEP3
				Orofaciodigital syndrome
					Orofaciodigital syndrome 01
						OFD1
					Orofaciodigital syndrome 04
						TCTN3
					Orofaciodigital syndrome 06
						CPLANE1
					Orofaciodigital syndrome 16
						TMEM107
					Orofaciodigital syndrome 9
				Primary ciliary dyskinesia 3 with or without situs inversus
					DNAH5
				Retinitis pigmentosa
					Retinitis pigmentosa 17
						CA4
					Retinitis pigmentosa 23
						OFD1
					Retinitis pigmentosa and erythrocytic microcytosis
						TRNT1
				Senior-Loken syndrome
					Senior-Loken syndrome 1
						NPHP1
					Senior-Loken syndrome 3
						NPHP3
					Senior-Loken syndrome 4
						NPHP4
					Senior-Loken syndrome 5
						IQCB1
					Senior-Loken syndrome 6
						CEP290
					Senior-Loken syndrome 7
						SDCCAG8
					Senior-Loken syndrome 8
						WDR19
					Senior-Loken syndrome 9
						TRAF3IP1
				Short-rib thoracic dysplasia with or without polydactyly
					Short-rib thoracic dysplasia with or without polydactyly 01
					Short-rib thoracic dysplasia with or without polydactyly 02
						IFT80
					Short-rib thoracic dysplasia with or without polydactyly 03
						DYNC2H1
					Short-rib thoracic dysplasia with or without polydactyly 04
						TTC21B
					Short-rib thoracic dysplasia with or without polydactyly 05
						WDR19
					Short-rib thoracic dysplasia with or without polydactyly 06
						NEK1
					Short-rib thoracic dysplasia with or without polydactyly 07
						WDR35
					Short-rib thoracic dysplasia with or without polydactyly 08
						WDR60
					Short-rib thoracic dysplasia with or without polydactyly 09
						IFT140
					Short-rib thoracic dysplasia with or without polydactyly 10
						IFT172
					Short-rib thoracic dysplasia with or without polydactyly 11
						WDR34
					Short-rib thoracic dysplasia with or without polydactyly 12
					Short-rib thoracic dysplasia with or without polydactyly 13
						CEP120
					Short-rib thoracic dysplasia with or without polydactyly 14
						KIAA0586
					Short-rib thoracic dysplasia with or without polydactyly 15
						DYNC2LI1
					Short-rib thoracic dysplasia with or without polydactyly 16
						IFT52
					Short-rib thoracic dysplasia with or without polydactyly 17
						TCTEX1D2
					Short-rib thoracic dysplasia with or without polydactyly 18
						IFT43
					Short-rib thoracic dysplasia with or without polydactyly 19
						IFT81
				Simpson-Golabi-Behmel syndrome
					Simpson-Golabi-Behmel syndrome 1
						GPC3
					Simpson-Golabi-Behmel syndrome 2
						OFD1
			Medullary cystic kidney disease
				Medullary cystic kidney disease 1
					MUC1
				Medullary cystic kidney disease 2
					UMOD
			Nephronophthisis
				Nephronophthisis 01
					NPHP1
				Nephronophthisis 02
					INVS
				Nephronophthisis 03
					NPHP3
				Nephronophthisis 04
					NPHP4
				Nephronophthisis 05
					IQCB1
				Nephronophthisis 06
					CEP290
				Nephronophthisis 07
					GLIS2
				Nephronophthisis 08
					RPGRIP1L
				Nephronophthisis 09
					NEK8
				Nephronophthisis 10
					SDCCAG8
				Nephronophthisis 11
					TMEM67
				Nephronophthisis 12
					TTC21B
				Nephronophthisis 13
					WDR19
				Nephronophthisis 14
					ZNF423
				Nephronophthisis 15
					CEP164
				Nephronophthisis 16
					ANKS6
				Nephronophthisis 17
					IFT172
				Nephronophthisis 18
					CEP83
				Nephronophthisis 19
					DCDC2
				Nephronophthisis 20
					MAPKBP1
				Nephronophthisis-like nephropathy 1
					XPNPEP3
			Senior-Loken syndrome
				Senior-Loken syndrome 1
					NPHP1
				Senior-Loken syndrome 3
					NPHP3
				Senior-Loken syndrome 4
					NPHP4
				Senior-Loken syndrome 5
					IQCB1
				Senior-Loken syndrome 6
					CEP290
				Senior-Loken syndrome 7
					SDCCAG8
				Senior-Loken syndrome 8
					WDR19
				Senior-Loken syndrome 9
					TRAF3IP1
		Polycystic kidney disease with hyperinsulinemic hypoglycemia
			PMM2
		Renal cysts and diabetes (RCAD)
			HNF1B
	Disorders of tubular solute transport
	Hereditary glomerular disease
	Hereditary metabolic kidney disease
	Hereditary renal tumors
	Interstitial kidney disease
	Kidney disease appearing as endocrinological disorders
	Thrombotic microangiopathies
	Urolithiasis