Homepage  
SymptomsDiseasesGenetestsShipmentSampleContactQuality
   
 


Hereditary kidney diseases


Pedigree


Diagnostic
strategy


Forms


Print page


Sprache
wechseln

Hereditary kidney diseases

Clinical feature: 

Definition: This group contains all types of hereditary kidney disease.

Systematic link table: 

Hereditary diseases
HIV resistance
CCR5
Hereditary bone disease
Hereditary broncho-pulmonary disease
Hereditary endocrinological diseases
Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
Denys-Drash syndrome
WT1
Frasier syndrome
WT1
Lowe disease
OCRL1
MODY5 diabetes
HNF1B
Renal cysts and diabetes (RCAD)
HNF1B
WAGR syndrome
PAX6
WT1
Cystic kidney disease
Autosomal dominant polycystic kidney disease
PKD1
PKD2
Autosomal recessive polycystic kidney and hepatic disease 1
PKHD1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
MODY5 diabetes
HNF1B
Medullary cystic disease complex
Medullary cystic kidney disease 2
UMOD
Nephronophthisis
Nephronophthisis 1
NPHP1
Nephronophthisis 2
INVS
Nephronophthisis 3
NPHP3
Nephronophthisis 4
NPHP4
Nephronophthisis 6
CEP290
Renal cysts and diabetes (RCAD)
HNF1B
Disorders of tubular solute transport
Aminoaciduria
Cystinosis
CTNS
Cystinuria
SLC3A1
SLC7A9
Fanconi-Bickel syndrome
SLC2A2
Lysinuric protein intolerance
SLC7A7
Hereditary Salt-wasting tubulopathies
Bartter syndrome
Antenatal Bartter syndrome type 1
SLC12A1
Antenatal Bartter syndrome type 2
KCNJ1
Classic Bartter syndrome
CLCNKB
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB
EAST syndrome
KCNJ10
Gitelman syndrome
SLC12A3
Hypomagnesemia
EGFR
TRPM7
Gitelman syndrome
SLC12A3
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Hypomagnesemia with normocalciuria
EGF
Hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
FXYD2
Hyperphosphaturia
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
Dent disease
CLCN5
OCRL1
Lowe disease
OCRL1
autosomal dominant hypophosphatemic rickets
FGF23
x-linked dominant hypophosphatemic rickets
PHEX
Liddle syndrome
NEDD4
NEDD4L
NR3C2
SCNN1B
SCNN1G
Lowe disease
OCRL1
Monosacchariduria
Fanconi-Bickel syndrome
SLC2A2
Glucose-Galactose Malabsorption
SLC5A1
Renal Glucosuria
SLC5A2
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Renal Hypouricemia
SLC22A12
Renal tubular acidosis
ATP6V0A4
ATP6V1B1
CA2
SLC4A1
SLC4A4
Hereditary glomerular disease
Glomerulonephritis
Membranoproliferative glomerulonephritis
C1QB
CFH
CFHR5
MTHFR
PLA2R1
Mesangioproliferative glomerulonephritis
CFHR5
Glomerulosclerosis
NPHS1
Frasier syndrome
WT1
Glomerulosclerosis 1
ACTN4
Glomerulosclerosis 2
TRPC6
Glomerulosclerosis 3
CD2AP
Glomerulosclerosis 4
MYH9
Glomerulosclerosis 5
INF2
Nephritic syndrome
Alport Syndrome
COL4A1
COL4A2
COL4A3
COL4A4
COL4A5
MYH9 related disorders
MYH9
Nail-patella syndrome
LMX1B
Nephrotic syndrome
Congenital nephrotic syndrome of the Finnish type
NPHS1
Congenital nephrotic syndrome, type 3
PLCE1
Donnai-Barrow syndrome
LRP2
Early-onset nephrotic syndrome with diffuse mesangial sclerosis
WT1
Pierson syndrome
LAMB2
Schimke Immunoosseous dysplasia
SMARCAL1
Steroid-resistant nephrotic syndrome
NPHS2
Hereditary renal tumors
Hereditary leiomyomatosis and renal cell cancer
FH
Wilms tumor
Aniridia-Wilms-tumor syndrome
PAX6
WT1
Denys-Drash syndrome
WT1
WAGR syndrome
PAX6
WT1
Interstitial kidney disease
Alström syndrome
ALMS1
Bardet-Biedl syndrome
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
CEP290
MKKS
MKS1
PTHB1
TRIM32
TTC8
WDPCP
Medullary cystic disease complex
Medullary cystic kidney disease 2
UMOD
Nephronophthisis
Nephronophthisis 1
NPHP1
Nephronophthisis 2
INVS
Nephronophthisis 3
NPHP3
Nephronophthisis 4
NPHP4
Nephronophthisis 6
CEP290
Kidney disease appearing as endocrinological disorders
Liddle syndrome
NEDD4
NEDD4L
NR3C2
SCNN1B
SCNN1G
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Thrombotic microangiopathies
Hemolytic-Uremic Syndrome
ADAMTS13
C3
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
MCP
THBD
Thrombotic Thrombocytopenic Purpura
ADAMTS13
Urolithiasis
Cystinuria
SLC3A1
SLC7A9
Dihydroxyadenin urolithiasis
APRT
Hyperuricemic nephropathy
Hyperuricemic nephropathy, familial juvenile 1
UMOD
Hyperuricemic nephropathy, familial juvenile 2
REN
Kelley-Seegmiller syndrome
HPRT1
Lesch-Nyhan syndrome
HPRT1
Renal Hypouricemia
SLC22A12
Nephrocalcinosis
CYP24A1
Bartter syndrome
Antenatal Bartter syndrome type 1
SLC12A1
Antenatal Bartter syndrome type 2
KCNJ1
Classic Bartter syndrome
CLCNKB
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB
Dent disease
CLCN5
OCRL1
Hereditary Rickets
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
Dent disease
CLCN5
OCRL1
Lowe disease
OCRL1
Vitamin D hydroxylation-deficient rickets type 1A
CYP27B1
Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1
Vitamin D-dependent rickets, type 2A
VDR
Vitamin D-dependent rickets, type 2B
RXRA
autosomal dominant hypophosphatemic rickets
FGF23
x-linked dominant hypophosphatemic rickets
PHEX
Hyperoxaluria
Hyperoxaluria type I
AGXT
Hyperoxaluria type II
GRHPR
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Lowe disease
OCRL1
Renal tubular acidosis
ATP6V0A4
ATP6V1B1
CA2
SLC4A1
SLC4A4
Nephrolithiasis diarrhea syndrome
SLC26A6
Hereditary metabolic diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary vascular disease
Hypertension
ACE
ACE2
AGT
hereditary diseases of the hematopoetic system and coagulopathies

Literature: 

Kaelin WG et al. (2005) The von Hippel-Lindau tumor suppressor protein: roles in cancer and oxygen sensing.
Shankland SJ et al. (2006) The podocyte's response to injury: role in proteinuria and glomerulosclerosis.
El-Shanti H et al. (2006) Familial mediterranean fever in Arabs.
Granel B et al. (2006) Lysozyme amyloidosis: report of 4 cases and a review of the literature.
Tryggvason K et al. (2006) Thin basement membrane nephropathy.
Ward LM et al. (2005) Renal phosphate--wasting disorders in childhood.
Hansel DE et al. (2006) Genetic alterations and histopathologic findings in familial renal cell carcinoma.
Baroncelli GI et al. (2004) Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.
Horie S et al. (2005) ADPKD: molecular characterization and quest for treatment.
Tahvanainen E et al. (2005) Polycystic liver and kidney diseases.
Weber S et al. (2005) Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.