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 3
Synonyms:
Npt2c,  NPTIIc

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Slc34a3 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.

The table below shows human diseases associated to Slc34a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Hyperphosphaturia, Increased circulati... ORPHA:157215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypercalciuria, Hypophosphatemic rickets, Calcium nephrolithiasis, Hyp... OMIM:241530

The table below shows human diseases predicted to be associated to Slc34a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Hypophosph... OMIM:616963
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Vomiting OMIM:239199
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:2239
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting OMIM:612286
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Hyperphosphaturia, Rena... ORPHA:99879
Hypervitaminosis A, Susceptibility To
Nausea, Hypercalcemia, Renal insufficiency OMIM:240150
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Small Cell Carcinoma Of The Bladder
Dysuria, Hypercalcemia, Recurrent urinary tract infections, Hematuria ORPHA:284400
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Nausea, Hematuria, ... ORPHA:94088
Medullary Sponge Kidney
Hypercalciuria, Nephrolithiasis, Hematuria, Distal renal tubular acidosis ORPHA:1309
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency,... OMIM:613388
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Vomiting OMIM:602722
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Hypercalcemia, Hypercalciuria, Hypermagnesemia, Hypocalciuria OMIM:145980
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Vomiting OMIM:143880
Adamantinoma
Hypercalcemia ORPHA:55881
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hypercalcemia, Proteinuria ORPHA:2668
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalciuria, Hypospadias, Hypercalcemia OMIM:614732
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Hypomagnesemia 2, Renal
Hypokalemia, Renal insufficiency, Renal magnesium wasting, Hypomagnesemia, Hypocalciuria OMIM:154020
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Blue urine, Hyperphosphatemia, Diarrhea ORPHA:94086
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypercalciuria, Chron... OMIM:248190
Hypocalciuric Hypercalcemia, Familial, Type Ii
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... OMIM:145981
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Glucose-Galactose Malabsorption
Nephrolithiasis, Hematuria, Hypercalcemia, Renal insufficiency, Hypernatremia, Diarrhea, Vomiting ORPHA:35710
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Hypercalciuria, Hypophosphatemic rickets, Hyperphosphaturia, Increased circulati... ORPHA:157215
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Constipation, Hypercalciuria, Renal ... OMIM:601678
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Familial Hypocalciuric Hypercalcemia
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalce... ORPHA:405
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Hypercalciuria, Bicarbonatur... ORPHA:3337
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia, Renal phosphate wasting OMIM:241519
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Constipation, Hypercalciuria, Polyuria, Hyperphosphaturia, Aminoaciduria, Calcinos... OMIM:239200
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Nausea, Hypokalemia, Hypercalciuria ORPHA:251274
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hyperaldosteronism, Hypokalemia, Increased circulating renin l... OMIM:607364
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Nephrocalcinosis, Hypercalcemia, Con... OMIM:241500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... OMIM:300554
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Hypercalcemia, Renal cortical adenoma, Polycystic kidney dysplasia, Papillary re... OMIM:145001
Non-Functioning Paraganglioma
Nausea, Elevated urinary dopamine, Hematuria, Hypercalcemia, Elevated urinary epinephrine, Elevat... ORPHA:94080
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Renal potassium wasting, Hypomag... ORPHA:564178
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Increased circ... OMIM:610600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hypocalcemia, Hype... ORPHA:73224
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Acute kidney injury, Hypercalciuria, ... ORPHA:89938
Fanconi-Bickel Syndrome
Glycosuria, Generalized aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, ... ORPHA:2088
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level OMIM:619406
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Acute kidney injury, Elevated creatine kinase after exercise, Chronic kidney disea... ORPHA:284426
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Renal potassium wasting, Enuresis, Polyuria, Rena... OMIM:612780
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Distal Renal Tubular Acidosis
Renal cyst, Hypermagnesiuria, Nephrocalcinosis, Nephrolithiasis, Hypokalemia, Constipation, Hypoc... ORPHA:18
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Renal phosphate wasting OMIM:612089
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Nephrocalcinosis, Hypochloremia, Hyposthenuria, Constipation, Hypercalciuria, Renal ... OMIM:241200
Rhabdoid Tumor
Hypercalcemia, Renal neoplasm, Hematuria ORPHA:69077
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Abnormal circulating corticosterone level, Hyper... ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Vomiting OMIM:203400
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney disease, Stage 5 ch... ORPHA:94059
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine, Hypercalcemia, Proteinuria OMIM:171420
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting, Hyperaldosteronism, Diarrhea, Vomiting OMIM:264350
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria OMIM:618440
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Hyperphosphaturia, Hypophosphatemia OMIM:156400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypercalciuria, Hypophosphatemic rickets, Calcium nephrolithiasis, Hyp... OMIM:241530
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Abnormal circulating corticosterone level, Hyper... ORPHA:556030
East Syndrome
Hypokalemia, Increased circulating renin level, Enuresis, Renal salt wasting, Renal sodium wastin... ORPHA:199343
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Polyuria, Renal magnesium wasting, Renal potassium wasting, Hypomagnesemia OMIM:618314
Sporadic Pheochromocytoma/Secreting Paraganglioma
Nausea, Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Hypercalcemia, E... ORPHA:276621
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis, Hyperphosphaturia OMIM:612287
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine concentration, H... ORPHA:411634
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Hyperphosphatemia, Hydroxyprolinemia, Increased... OMIM:239000
Acute Adrenal Insufficiency
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Cons... ORPHA:95409
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Constipation, Hype... ORPHA:99880
Helix Syndrome
Hypokalemia, Nephrolithiasis, Polyuria, Renal insufficiency, Hypermagnesemia, Xerostomia, Hypocal... OMIM:617671
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Constipation, Vomiting, Enuresis, Polyuria, Noctu... OMIM:263800
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria, Nephrolithiasis ORPHA:163693
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria... ORPHA:251004
Parathyroid Carcinoma
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Constipation, Hype... ORPHA:143
Infantile Myofibromatosis
Intestinal obstruction, Hypercalcemia, Abnormality of the kidney ORPHA:2591
Hypophosphatasia
Hypercalcemia ORPHA:436
Genetic Recurrent Myoglobinuria
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... ORPHA:99845
Hereditary Pheochromocytoma-Paraganglioma
Nausea, Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Hypercalcemia, E... ORPHA:29072
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:614736
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Pheochromocytoma
Hypercalcemia, Elevated urinary norepinephrine, Renal artery stenosis, Proteinuria OMIM:171300
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Hyperphosphaturia ORPHA:89937
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Hypercalciu... OMIM:557000
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Elevated urine gly... ORPHA:416
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypercalciuria, Ureteral stenosis, Nephrocalcinosis, Renal cyst OMIM:615398
Hereditary Amyloidosis With Primary Renal Involvement
Nausea, Nephrotic syndrome, Gastrointestinal hemorrhage, Elevated circulating creatinine concentr... ORPHA:85450
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Renal cyst, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Gastroesophageal reflux, Renal dyspl... ORPHA:369837
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Hyponatremia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Secret... OMIM:618183
Hypophosphatemic Rickets
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Hyperphosphaturia, Renal insufficiency, Renal ph... ORPHA:437
Colchicine Poisoning
Oliguria, Nausea, Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypo... ORPHA:31824
Addison Disease
Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increased circulating renin level, Cons... ORPHA:85138
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, H... OMIM:613845
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Nephrolithiasis, Hypercalcemia, Constipation, Hypercalciuria, El... ORPHA:653
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Increased circulating renin level, Hyperkalemia, Renal... ORPHA:427
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting OMIM:193100
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Primary Unilateral Adrenal Hyperplasia
Nausea, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating... ORPHA:231580
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Hypokalemia, Nephrocalcinosis, Abnormal urine sodium c... ORPHA:320
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Nausea, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating... ORPHA:231625
Zollinger-Ellison Syndrome
Hematochezia, Nausea, Gastrointestinal hemorrhage, Hypercalcemia, Increased urinary cortisol leve... ORPHA:913
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Constipation, Decreased circulating cortisol level, Hyperuricemia, D... ORPHA:199299
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Calcium nephrolithiasis ORPHA:36913
Adrenocortical Hypofunction, Chronic Primary Congenital
Decreased circulating cortisol level, Hypernatriuria OMIM:103230
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Hypokalemia, Nephrocalcinosis, Hyponatremia, Nephrolithiasis, H... ORPHA:534
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Xerostomia, Diarrhea, Vomiting OMIM:175500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Chronic constipation, Hypercalcemia ORPHA:476126
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria, Nephrolithiasis OMIM:606407
Mastocytosis
Diarrhea, Gastrointestinal hemorrhage, Hypercalcemia ORPHA:98292
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Chronic diarrhea, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Multiple Endocrine Neoplasia, Type I
Esophagitis, Hypercalcemia, Diarrhea, Increased circulating cortisol level OMIM:131100
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic A... ORPHA:94089
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Cholera
Hypokalemia, Hyponatremia, Decreased urine output, Acute kidney injury, Abnormal blood ion concen... ORPHA:173
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting OMIM:613743
Monosomy 13Q34
Fetal pyelectasis, Hematochezia, Infantile hypercalcemia ORPHA:96168
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoph... OMIM:616026
Neuroleptic Malignant Syndrome
Hypernatremia, Nausea, Hyponatremia, Acute kidney injury, Proteinuria, Hyperkalemia, Hypocalcemia... ORPHA:94093
Ppoma
Gastrointestinal hemorrhage, Hypercalcemia, Constipation, Intestinal obstruction, Diarrhea, Incre... ORPHA:97278
Somatostatinoma
Gastrointestinal hemorrhage, Hypercalcemia, Constipation, Intestinal obstruction, Diarrhea, Incre... ORPHA:97283
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Hyperphosphaturia, Renal phosphate wasting ORPHA:352540
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Multiple Endocrine Neoplasia Type 1
Nausea, Nephrolithiasis, Hypercalcemia, Constipation, Hypercalciuria, Gastroesophageal reflux, Pr... ORPHA:652
Familial Glucocorticoid Deficiency
Hyponatremia, Constipation, Hyperkalemia, Decreased circulating cortisol level, Renal salt wastin... ORPHA:361
Enamel-Renal Syndrome
Nephrocalcinosis, Enuresis, Hypocalciuria, Nephropathy, Renal insufficiency, Impaired renal conce... ORPHA:1031
Glucagonoma
Gastrointestinal hemorrhage, Stomatitis, Hypercalcemia, Constipation, Intestinal obstruction, Dia... ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Renal angiomyolipoma, Hypercalcemia, Increased urinary cortisol level, Esophagitis, Diarrhea, Inc... ORPHA:276152
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypokalemia, Increased circulating renin level, Hypercalciuria... ORPHA:508
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Hypercalciuria, Gastritis, Hypospadias, Meconium ileus, Micros... OMIM:219721
Grfoma
Gastrointestinal hemorrhage, Hypercalcemia, Constipation, Intestinal obstruction, Diarrhea, Incre... ORPHA:97261
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia, Diarrhea ORPHA:88673
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Constipation, Abnorma... ORPHA:411629
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Increased circulating cortisol level ORPHA:249
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level, Secretory diarrhea ORPHA:97282
Bacterial Toxic-Shock Syndrome
Nausea, Elevated circulating creatinine concentration, Peritonitis, Hypocalcemia, Glomerulonephri... ORPHA:36234
Ethylene Glycol Poisoning
Nausea, Renal tubular dysfunction, Hematuria, Decreased urine output, Hyperkalemia, Hypocalcemia,... ORPHA:31826
Cystic Fibrosis
Exocrine pancreatic insufficiency, Ileus, Hypercalciuria, Meconium ileus, Diarrhea, Steatorrhea OMIM:219700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Timothy Syndrome
Hypocalcemia OMIM:601005
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Chronic diarrhea, Hypoalbuminemia, Hypomagnesemia ORPHA:90362
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Renal salt wasting, Hyponatremia OMIM:300200
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Elevated alpha-fetoprotein, Enlarged kidney, Multiple renal cy... ORPHA:116
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Nephrolithiasis ORPHA:93160
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Ileus, Nephrotic syndrome, Abnormal blood ion concentration, Colitis, Hypocalcemia, Tubulointerst... ORPHA:37042
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating cortisol lev... ORPHA:90791
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Renal dysplasia, Nephrocalcinosis OMIM:300990
Williams Syndrome
Proteinuria, Constipation, Recurrent urinary tract infections, Nephrocalcinosis, Hypercalciuria, ... ORPHA:904
Gitelman Syndrome
Renal tubular acidosis, Hypokalemia, Renal Fanconi syndrome, Decreased urinary potassium, Hyperma... ORPHA:358
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Fructose Intolerance, Hereditary
Glycosuria, Nausea, Gastrointestinal hemorrhage, Hyperuricosuria, Bicarbonaturia, Proximal tubulo... OMIM:229600
Williams-Beuren Syndrome
Nephrocalcinosis, Bladder diverticulum, Hypercalcemia, Constipation, Hypercalciuria, Gastroesopha... OMIM:194050
X-Linked Agammaglobulinemia
Hypocalcemia, Chronic diarrhea ORPHA:47
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Bloody diarrhea, Nausea, Hyponatremia, Decreased urine output, Acute kidney injury, Anu... ORPHA:544482
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Sanjad-Sakati Syndrome
Hypocalcemia, Intestinal obstruction, Hyperphosphatemia, Hypoplasia of penis ORPHA:2323
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Hypocalcemia, Hypospadias OMIM:607143
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Hypocalcemic seizures, Hydronephrosis, Hypocalcemia, Polycystic kidney... ORPHA:2237
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Renal tubular dysfunction, Renal phosphate wasting OMIM:307800
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Recurrent aphthous stomatitis, Stomatitis, Diarrhea, Steatorrhea, Vomiting OMIM:212750
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating cortisol lev... ORPHA:168558
Osteogenesis Imperfecta
Nephrolithiasis, Constipation, Hypercalciuria, Dysphagia, Intestinal obstruction ORPHA:666
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis, Hypocalcemia, Hypoproteinemia OMIM:235255
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration OMIM:612462
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Decreased circulating cortisol lev... ORPHA:289548
Sarcoidosis
Nephrocalcinosis, Nephrolithiasis, Hypercalcemia, Parotitis, Hypercalciuria, Tubulointerstitial n... ORPHA:797
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Vomiting, Hyperkalemia, Renal salt wasting, Abnormal urine po... ORPHA:275761
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Pearson Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Renal cyst, Lacticaciduria, Hypokalemia, Proteinur... ORPHA:699
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria ORPHA:89936
Gracile Bone Dysplasia
Micropenis, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Low urin... ORPHA:79444
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating cortisol level, Renal salt wasting, Long penis, Decreased circ... ORPHA:90795
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... ORPHA:436271
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration OMIM:103580
Exercise-Induced Malignant Hyperthermia
Oliguria, Nausea, Acute kidney injury, Hyperkalemia, Hypocalcemia, Elevated circulating creatine ... ORPHA:466650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Micropenis, Hydronephrosis, Hypocalcemia, Abnormal renal morphology ORPHA:1655
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Inflammation of the large intestine OMIM:181000
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Glycosuria, Hypokalemia, Proteinuria, Polyuria, Hypophosphatem... OMIM:219800
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Decreased urinary potassium,... ORPHA:79102
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Low urin... ORPHA:79443
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Absence of renal corticomedullary differentiation OMIM:259720
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Sotos Syndrome
Renal agenesis, Ureteral duplication, Hypercalcemia, Constipation, Hydronephrosis, Gastroesophage... ORPHA:821
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... OMIM:220110
Mccune-Albright Syndrome
Renal tubular dysfunction, Gastroesophageal reflux, Hyperphosphaturia, Primary hypercortisolism, ... ORPHA:562
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Proteinuria, Constipation, Hypercholesterolemia, Bicarbonaturia, Hyperpho... OMIM:309000
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Distal renal tubular acidosis, Hydronephrosis, Hypocalce... ORPHA:2785
Gaisböck Syndrome
Nephrocalcinosis, Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Hyperna... ORPHA:90041
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hydronephrosis, Hypocalcemia, Hyperbilirubinemia, Hypospadias ORPHA:163979
Opsismodysplasia
Hypophosphatemia, Renal phosphate wasting OMIM:258480
Cranioectodermal Dysplasia 1
Tubulointerstitial nephritis, Renal magnesium wasting, Hypocalcemia, Chronic kidney disease OMIM:218330
Craniofacioskeletal Syndrome
Hydronephrosis, Hypocalcemia, Hypospadias OMIM:300712
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Gastroesophageal reflux, Recurrent urinary tract infections, Hypoalbuminemia, Uncon... OMIM:613658
Cartilage-Hair Hypoplasia
Hypocalcemia, Mucopolysacchariduria ORPHA:175
Visceral Steatosis, Congenital
Hypocalcemia, Renal steatosis OMIM:228100
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Horseshoe kidney, Hyperphosphaturia OMIM:163200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hypochloremia, Hyperkalemia, Decreased circulating cortisol level, Renal salt wasti... ORPHA:90794
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatem... ORPHA:289176
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Constipation, Renal hypoplasia, Gastroesophageal reflux, Hypocalcemi... ORPHA:567
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Hennekam Syndrome
Hypocalcemia, Ectopic kidney, Horseshoe kidney ORPHA:2136
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Hypospadias ORPHA:280651
Thymic Aplasia
Recurrent urinary tract infections, Diarrhea, Hypocalcemic tetany ORPHA:83471
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Digeorge Syndrome
Unilateral renal agenesis, Hydronephrosis, Gastroesophageal reflux, Hypocalcemia, Renal dysplasia... OMIM:188400
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Micropenis, Hypocalcemia, Urinary urgency, Pelvic kidney, Dysphagia, H... OMIM:619503
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Micropenis, Hydronephrosis, Hypocalcemia, Urethrovaginal fistu... OMIM:243800
Charge Syndrome
Renal agenesis, Horseshoe kidney, Micropenis, Hydronephrosis, Renal hypoplasia, Hypocalcemia, Dys... OMIM:214800
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia, Medulla... ORPHA:51608

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 Slc34a3

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 Slc34a3.

No publications found that use IMPC mice or data for Slc34a3.

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MGI Allele Allele Type Produced
Slc34a3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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