Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disorders of tubular solute transport

This page summarizes hereditary disturbances in tubular function.

Systematic

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Cystic kidney disease
Disorders of tubular solute transport
Genetic disorders of proximal tubular function
Endocytotic disturbances of proximal tubular function
Donnai-Barrow syndrome
LRP2
Imerslund-Grasbeck syndrome
AMN
CUBN
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Metabolic disturbances of proximal tubular function
Cystinosis
CTNS
Dent disease
CLCN5
OCRL
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Fructose intolerance
ALDOB
Galactosemia
GALT
Glycogen storage disease 1
Glycogen storage disease 1A
G6PC
Glycogen storage disease 1B
SLC37A4
Glycogen storage disease 1C
SLC37A4
Hepatorenal tyrosinemia
FAH
Lowe disease
OCRL
MELAS syndrome
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2
Wilson disease
ATP7B
Specific disturbances of proximal tubular transport
Aminoaciduria
Cystinuria
SLC3A1
SLC7A9
Dicarboxylic aminoaciduria
SLC1A1
Erythrocyte lactate transporter defect
SLC16A1
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Hartnup disorder
SLC6A19
Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8
Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
SLC20A2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1
Monosacchariduria
Fructosuria
KHK
Glucose-Galactose Malabsorption
SLC5A1
Renal Glucosuria
SLC5A2
Proximal renal tubular acidosis
SLC4A4
Renal Hypouricemia
SLC22A12
SLC2A9
Hereditary Salt-wasting tubulopathies
Bartter syndrome
Antenatal Bartter syndrome type 1
SLC12A1
Antenatal Bartter syndrome type 2
KCNJ1
Classic Bartter syndrome
CLCNKB
Hypercalciuric hypocalcemia 1
CASR
Hypercalciuric hypocalcemia 2
GNA11
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB
Transient antenatal Bartter syndrome
MAGED2
EAST syndrome
KCNJ10
Gitelman syndrome
SLC12A3
Hypomagnesemia
EGFR
Gitelman syndrome
SLC12A3
Hereditary myokymia type 1
KCNA1
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Hypomagnesemia with normocalciuria
EGF
Intestinal hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
FXYD2
Renal cysts and diabetes (RCAD)
HNF1B
Renal hypomagnesemia 6
CNNM2
TRPM7
Inherited disorders of calcium balance
Familial hypocalciuric hypercalcemia type 1
CASR
Familial hypocalciuric hypercalcemia type 2
GNA11
Familial hypocalciuric hypercalcemia type 3
AP2S1
Hypophosphatasia
Adult hypophosphatasia
ALPL
Childhood hypophosphatasia
ALPL
Infantile hypophosphatasia
ALPL
Odontohypophosphatasia
ALPL
Infantile hypercalcemia
CYP24A1
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Renal tubular acidosis
Combined renal tubular acidosis 3 with osteopetrosis 3
CA2
Distal renal tubular acidosis (autosomal dominant)
SLC4A1
Distal renal tubular acidosis (autosomal recessive)
ATP6V0A4
Distal renal tubular acidosis with deafness (autosomal recessive)
ATP6V1B1
Proximal renal tubular acidosis
SLC4A4
Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39
Hereditary glomerular disease
Hereditary metabolic kidney disease
Hereditary renal tumors
Interstitial kidney disease
Kidney disease appearing as endocrinological disorders
Thrombotic microangiopathies
Urolithiasis

References:

1.

None (2001) Molecular pathophysiology of tubular transport disorders.

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Update: May 10, 2019