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Gene: Slc34a2 MGI:1342284

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

solute carrier family 34 (sodium phosphate), member 2

Synonyms:

type IIb Na/Picotransporter, NaPi-2b, Npt2b, D5Ertd227e

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc34a2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Slc34a2 (2 diseases)
Human diseases predicted to be associated with Slc34a2 (348 diseases)

The table below shows human diseases associated to Slc34a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pulmonary Alveolar Microlithiasis		Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hematuria, Increased circula...	ORPHA:60025
Pulmonary Alveolar Microlithiasis			OMIM:265100

The table below shows human diseases predicted to be associated to Slc34a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting	OMIM:239199
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary n...	OMIM:143880
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal phosphate wast...	OMIM:613388
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis	OMIM:602722
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia	OMIM:193100
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria	OMIM:145980
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Nephrolithias...	ORPHA:157215
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho...	OMIM:618913
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Constipati...	OMIM:239200
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph...	OMIM:616026
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Generalized aminoaciduria, Hypercalciuri...	OMIM:227810
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypocalcemia, Cystinuria	ORPHA:163693
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia	OMIM:612089
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Generalized aminoaciduria, Hypercalciuria, Nephrocalcino...	ORPHA:2088
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Hypokalemia, Dexamethasone...	ORPHA:251274
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ...	OMIM:601678
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Blue Diaper Syndrome	Hypercalcemia, Diarrhea, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephroc...	ORPHA:18
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Vomiting...	ORPHA:213
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre...	OMIM:610600
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Diarrhea, Hematuria, Decreased serum creatinine, Acute kidney i...	ORPHA:54057
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia	OMIM:618440
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli...	ORPHA:47159
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosphate wasting, H...	OMIM:307800
Autosomal Dominant Hypocalcemia	Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria	ORPHA:428
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:36913
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Diarrhea, Abnormal blood ion concentration, Oliguria, Hypophos...	ORPHA:31824
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiting	OMIM:264350
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy...	OMIM:239000
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystine crystalluria, Hypocalcemia, Cystinuria	OMIM:606407
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re...	OMIM:612780
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal...	OMIM:229600
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi...	OMIM:612462
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Vomiting	OMIM:203400
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Familial Isolated Hypoparathyroidism	Nephropathy, Hypocalcemia	ORPHA:2238
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Adamantinoma	Hypercalcemia	ORPHA:55881
Hereditary Fructose Intolerance	Renal insufficiency, Diarrhea, Chronic kidney disease, Hypermagnesemia, Vomiting, Hyperuricemia, ...	ORPHA:469
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556037
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Refractory Celiac Disease	Hypomagnesemia, Chronic diarrhea, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Diarrhea, Nephrolithiasis, Hematuria, Vomiting, Hypernatremia	ORPHA:35710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Helix Syndrome	Renal insufficiency, Polyuria, Xerostomia, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocal...	OMIM:617671
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypophosphatemi...	ORPHA:99880
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor...	ORPHA:556030
Wilson Disease	Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ...	OMIM:277900
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypophosphatemi...	ORPHA:143
Ring Chromosome 10 Syndrome	Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia	OMIM:175500
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Constipation, Increased circulating ren...	OMIM:263800
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Cholera	Hyponatremia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentration, Hypokal...	ORPHA:173
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Secretory diarrhea, Hematochezia, Hypoalbuminemia, ...	OMIM:618183
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Neuroleptic Malignant Syndrome	Hyponatremia, Acute kidney injury, Proteinuria, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94089
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Mccune-Albright Syndrome	Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction, Increased circulating cort...	ORPHA:562
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting	OMIM:614736
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin...	ORPHA:289176
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Gastroe...	OMIM:617913
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal...	ORPHA:320
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypokalemia, Decreased urinary potassium	OMIM:611489
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg...	ORPHA:369837
Pearson Marrow-Pancreas Syndrome	Chronic diarrhea, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Vomiting, Co...	OMIM:557000
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Episodic vom...	OMIM:612736
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a...	ORPHA:284426
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Rhabdoid Tumor	Hematuria, Renal neoplasm, Hypercalcemia	ORPHA:69077
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con...	ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Vomiting, Increased blood urea nitrogen	OMIM:617872
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb...	ORPHA:247353
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Sanjad-Sakati Syndrome	Hypoplasia of penis, Intestinal obstruction, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease	ORPHA:280062
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Diarr...	ORPHA:653
Familial Hypoaldosteronism	Hyponatremia, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyperkalemia, Proximal r...	ORPHA:427
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy...	ORPHA:31826
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Glomerulopathy, Renal insufficiency, Hypercalciuria, Proteinuria, Hypoammonemia, Pr...	ORPHA:534
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
X-Linked Agammaglobulinemia	Chronic diarrhea, Hypocalcemia	ORPHA:47
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Diarrhea, Hypermagnesemia, Tubulo...	ORPHA:358
Primary Intestinal Lymphangiectasia	Chronic diarrhea, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Cons...	ORPHA:79102
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:103580
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Pearson Syndrome	Renal insufficiency, Proteinuria, Chronic diarrhea, Lacticaciduria, Steatorrhea, Hypophosphatemia...	ORPHA:699
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Ileus, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephri...	ORPHA:37042
Timothy Syndrome	Hypocalcemia	OMIM:601005
Relapsing Fever	Elevated circulating C-reactive protein concentration, Diarrhea, Elevated circulating creatinine ...	ORPHA:91547
Gracile Bone Dysplasia	Micropenis, Hypocalcemia	OMIM:602361
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:79444
Primary Unilateral Adrenal Hyperplasia	Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, ...	ORPHA:231580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc...	OMIM:235400
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Increased cir...	ORPHA:231625
Celiac Disease, Susceptibility To, 1	Diarrhea, Vomiting, Recurrent aphthous stomatitis, Hypocalcemia, Steatorrhea, Stomatitis	OMIM:212750
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ...	ORPHA:2237
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diarrhea, Hyperkalemia, Secretory diarrhea, Oliguria, Bloody diarrhea, Decr...	ORPHA:544482
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Congenital Disorder Of Glycosylation, Type Ig	Micropenis, Hypospadias, Hypocalcemia	OMIM:607143
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Hypercalcemia, Renal sal...	ORPHA:95409
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia	OMIM:235255
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting	OMIM:613743
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Hypophosphatemia	ORPHA:89936
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis	ORPHA:1655
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting	OMIM:300200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:79443
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Renal sal...	ORPHA:361
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Constipation, Decreased serum crea...	OMIM:618885
Infantile Myofibromatosis	Intestinal obstruction, Hypercalcemia, Abnormality of the kidney	ORPHA:2591
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Hematemesis, Diarrhea, Nephrolithiasis, Hypercalciuria, Melena, Increased circulat...	ORPHA:652
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki...	ORPHA:423
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Car T Cell Therapy-Associated Cytokine Release Syndrome	Diarrhea, Elevated circulating creatinine concentration, Decreased urine output, Vomiting, Hyperb...	ORPHA:542323
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Hematemesis, Diarrhea, Chronic kidney disease, Hyperkale...	ORPHA:340
Leprechaunism	Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperaldosteronism, Increased circulat...	ORPHA:508
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Diarrhea, Peritonitis, Elevated circulating creatinine concentration, Blood...	ORPHA:90038
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Vo...	ORPHA:466650
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Pheochromocytoma	Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia	ORPHA:249
Cystic Fibrosis	Meconium ileus, Diarrhea, Ileus, Hypercalciuria, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:219700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Hypophosphatasia	Hypercalcemia	ORPHA:436
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Increased circulating cortisol level, Hypercalcemia	ORPHA:97289
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Elevated circulating creatinine concentration, Gastroesophageal reflux, Constipation, V...	OMIM:223900
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Raine Syndrome	Hydroureter, Hydronephrosis, Hypophosphatemia	OMIM:259775
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Vomitin...	ORPHA:230
Multiple Myeloma	Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Nephrot...	ORPHA:29073
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Renal salt wasting, Decreased ...	ORPHA:85138
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia, Vomiting, Diarrhea	OMIM:608104
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype...	ORPHA:116
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Hyperkalemia...	ORPHA:90791
Igg4-Related Thyroid Disease	Hypocalcemia, Dysphagia	ORPHA:64744
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology...	OMIM:194050
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis, Nephrolithia...	ORPHA:2785
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Isotretinoin-Like Syndrome	Gastroesophageal reflux, Hypocalcemia	ORPHA:2306
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Hypocalcemia	OMIM:300712
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis	ORPHA:163979
Cartilage-Hair Hypoplasia	Mucopolysacchariduria, Hypocalcemia	ORPHA:175
Liver Disease, Severe Congenital	Hyponatremia, Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Elevated circul...	OMIM:619991
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Diarrhea, Hyperkalemia, Consti...	ORPHA:199299
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Gastroesophageal reflux, Hypoalbuminemia, Hypocalcemia, Uncon...	OMIM:613658
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Sarcoidosis	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointe...	ORPHA:797
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Diarrhea, Hyperkalemia, Abnormal urine po...	ORPHA:275761
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Elevated circulating creatinine concentration, Glomerul...	ORPHA:247691
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Long penis, Hypokalemia, Increased urin...	ORPHA:90795
Hennekam Syndrome	Hypocalcemia, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Hypercalce...	ORPHA:913
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Bowel incontinence, Renal hypoplasia, Constipation, Gas...	ORPHA:567
Osteogenesis Imperfecta	Intestinal obstruction, Hypercalciuria, Nephrolithiasis, Constipation, Dysphagia	ORPHA:666
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Abnormal ur...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Abnormal ur...	ORPHA:289548
Monosomy 13Q34	Hematochezia, Fetal pyelectasis, Hypercalcemia	ORPHA:96168
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Chronic constipation, Urinary incontinence, Hypercalcemia	ORPHA:476126
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Hypercalciuria	OMIM:181000
Multiple Endocrine Neoplasia, Type I	Diarrhea, Increased circulating cortisol level, Hypercalcemia, Esophagitis	OMIM:131100
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Diarrhea, Recurrent urinary tract infections	ORPHA:83471
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in...	ORPHA:449395
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Nephrocalcinosis, Vomiting, Hypophosphatemic rickets, Medullary nephrocalcinos...	ORPHA:51608
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Unilateral renal agenesis	OMIM:101800
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hypercalcemia, Diarrhea, Increased circulating cortisol level, ...	ORPHA:276152
Ppoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Increased circulati...	ORPHA:97278
Somatostatinoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Increased circulati...	ORPHA:97283
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Hypomagnesemia, Urinary urgency, Chronic constipation, Hypocalcemia, D...	OMIM:619503
Gaisböck Syndrome	Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r...	ORPHA:90041
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Constipation, Hypocalcemia	OMIM:620330
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Gastroesophageal reflux, Hypocal...	OMIM:188400
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Increased circulati...	ORPHA:97280
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Grfoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Increased circulati...	ORPHA:97261
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Vipoma	Hypercalcemia, Secretory diarrhea, Hematochezia, Increased circulating cortisol level, Hypokalemia	ORPHA:97282
Marburg Hemorrhagic Fever	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Diarrhe...	ORPHA:99826
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Long penis, Hyperkalemia,...	ORPHA:90794
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Hematemesis, Dia...	ORPHA:99829
Charge Syndrome	Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Dysphagia, Micropenis, Hydronep...	OMIM:214800
Johanson-Blizzard Syndrome	Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conjugated hyperbi...	OMIM:243800
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co...	OMIM:619534
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hematuria, Increased circula...	ORPHA:60025
Pulmonary Alveolar Microlithiasis		OMIM:265100

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc34a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc34a2.

No publications found that use IMPC mice or data for Slc34a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slc34a2^{tm44718(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc34a2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc34a2^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Slc34a2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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