Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Interstitial kidney disease

Familial kidney diseases that demonstrate symptoms of tubular dysfunction due to generalized tubulo-interstitial destruction are grouped into hereditary interstitial kidney disease.

Systematic

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Cystic kidney disease
Disorders of tubular solute transport
Hereditary glomerular disease
Hereditary metabolic kidney disease
Hereditary renal tumors
Interstitial kidney disease
Alström syndrome
ALMS1
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD
Bardet-Biedl syndrome
Bardet-Biedl syndrome 01
ARL6
BBS1
CCDC28B
TMEM67
Bardet-Biedl syndrome 02
BBS2
Bardet-Biedl syndrome 03
ARL6
Bardet-Biedl syndrome 04
BBS4
Bardet-Biedl syndrome 05
BBS5
Bardet-Biedl syndrome 06
MKKS
Bardet-Biedl syndrome 07
BBS7
Bardet-Biedl syndrome 08
TTC8
Bardet-Biedl syndrome 09
BBS9
Bardet-Biedl syndrome 10
BBS10
Bardet-Biedl syndrome 11
TRIM32
Bardet-Biedl syndrome 12
BBS12
Bardet-Biedl syndrome 13
MKS1
Bardet-Biedl syndrome 14
CEP290
Bardet-Biedl syndrome 15
WDPCP
Bardet-Biedl syndrome 16
SDCCAG8
Bardet-Biedl syndrome 17
LZTFL1
Bardet-Biedl syndrome 18
BBIP1
Bardet-Biedl syndrome 19
IFT27
Bardet-Biedl syndrome 20
IFT74
Hyperuricemic nephropathy
Hyperuricemic nephropathy, familial juvenile 1
UMOD
Hyperuricemic nephropathy, familial juvenile 2
REN
Karyomegalic interstitial nephritis
FAN1
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
Kidney disease appearing as endocrinological disorders
Thrombotic microangiopathies
Urolithiasis

References:

1.

Alexander F et al. (1970) Familial uremic medullary cystic disease.

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Update: May 9, 2019