Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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 (347 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		Increased circulating surfactant protein level, Hematuria, Calcium nephrolithiasis	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	Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep...	OMIM:616963
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria...	OMIM:308990
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal phosphate wasting, Renal hypophosphatemia	OMIM:241519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia	OMIM:612286
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Dent Disease 2	Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con...	OMIM:300555
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Vomiting, Hypercalciuria, Hypercalcemia, Nephrocalcinosis	OMIM:239199
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil...	ORPHA:99879
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro...	OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,...	OMIM:601198
Hereditary Renal Hypouricemia	Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno...	ORPHA:94088
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro...	OMIM:161900
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis	OMIM:602722
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei...	OMIM:310468
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Medullary Sponge Kidney	Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria	ORPHA:1309
Idiopathic Hypercalciuria	Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis	ORPHA:2197
Hypercalcemia, Infantile, 1	Nephrolithiasis, Polyuria, Vomiting, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis	OMIM:143880
Renal Tubular Acidosis, Distal, 1	Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c...	OMIM:179800
Hypocalciuric Hypercalcemia, Familial, Type I	Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia	OMIM:145980
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff...	OMIM:134600
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M...	ORPHA:157215
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Dent Disease 1	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria...	OMIM:300009
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi...	OMIM:618913
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypophosphatemia, Hypocalcemia	ORPHA:89937
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Hypomagnesemia 2, Renal	Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalciuria, Hypercalcemia, Micropenis	OMIM:614732
Hypomagnesemia 3, Renal	Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci...	OMIM:248250
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary...	OMIM:300971
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was...	ORPHA:3337
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy...	OMIM:616026
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Constipation, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosi...	OMIM:239200
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary...	OMIM:248190
Fanconi-Bickel Syndrome	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ...	OMIM:227810
Enamel-Renal Syndrome	Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi...	ORPHA:1031
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia	OMIM:300539
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami...	ORPHA:411634
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid...	OMIM:300554
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Polyuria, Hypercalciuria, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Hypomagnesemia 1, Intestinal	Hypomagnesemia, Hypocalcemia	OMIM:602014
Dent Disease	Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci...	ORPHA:1652
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia	OMIM:612089
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypocalcemia, Cystinuria	ORPHA:163693
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri...	OMIM:614817
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia	OMIM:613312
Fanconi-Bickel Syndrome	Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglycer...	ORPHA:2088
Hyperphosphatemia, Polyuria, And Seizures	Polyuria, Diarrhea, Hyperphosphatemia, Vomiting	OMIM:239350
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypocalciuric Hypercalcemia, Familial, Type Iii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp...	OMIM:600740
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Familial Hypocalciuric Hypercalcemia	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp...	ORPHA:405
Familial Hyperaldosteronism Type Iii	Nausea, Hypokalemia, Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:251274
Hypophosphatasia, Infantile	Constipation, Elevated plasma pyrophosphate, Vomiting, Phosphoethanolaminuria, Hypercalciuria, Hy...	OMIM:241500
Bartter Syndrome, Type 1, Antenatal	Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Constipation, Increased urinary potassium, R...	OMIM:601678
Alport Syndrome 3, Autosomal Dominant	Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme...	OMIM:104200
Blue Diaper Syndrome	Diarrhea, Hyperphosphatemia, Hypercalcemia, Nephrocalcinosis, Blue urine	ORPHA:94086
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ...	ORPHA:567544
Bartter Syndrome, Type 3	Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Increased circulating renin le...	OMIM:607364
Hypervitaminosis A, Susceptibility To	Nausea, Renal insufficiency, Hypercalcemia	OMIM:240150
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, H...	OMIM:241530
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ...	ORPHA:564178
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal...	ORPHA:73224
Hypocalciuric Hypercalcemia, Familial, Type Ii	Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci...	OMIM:145981
Genetic Recurrent Myoglobinuria	Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien...	ORPHA:99845
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c...	OMIM:614723
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis	OMIM:156400
Bartter Syndrome Type 4	Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni...	ORPHA:89938
Infantile Nephropathic Cystinosis	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Constipation, Glycosuria...	ORPHA:411629
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Cystinosis	Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy, Vomiting, P...	ORPHA:213
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia	ORPHA:2668
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia	ORPHA:352540
Distal Renal Tubular Acidosis	Nephrolithiasis, Hypokalemia, Constipation, Aminoaciduria, Decreased glomerular filtration rate, ...	ORPHA:18
Thrombotic Thrombocytopenic Purpura	Diarrhea, Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Protei...	ORPHA:54057
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Increased circulating renin level, Hyponatremia,...	OMIM:610600
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Increased circulating renin level, Hyperald...	OMIM:612780
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A...	OMIM:307800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Oculoskeletodental Syndrome	Hypocalcemia, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia	OMIM:618440
Uremic Pruritus	Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp...	ORPHA:94059
Autoimmune Hypoparathyroidism	Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
Proximal Renal Tubular Acidosis	Nephrolithiasis, Hypokalemia, Aminoaciduria, Hyperuricosuria, Diarrhea, Glycosuria, Vomiting, Glo...	ORPHA:47159
Colchicine Poisoning	Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Diarrhea, Vomiting, Oliguria, Abnorm...	ORPHA:31824
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hyperuricemia, Increased...	OMIM:239000
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Bartter Syndrome, Type 2, Antenatal	Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Constipation, Increased urinary potassium, R...	OMIM:241200
Fructose Intolerance, Hereditary	Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu...	OMIM:229600
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Nephrolithiasis, Hypocalcemia, Cystinuria	OMIM:606407
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting	OMIM:618314
Autosomal Dominant Hypocalcemia	Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis	ORPHA:428
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Diarrhea, Vomiting, Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting	OMIM:264350
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici...	OMIM:619468
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Low urinary cyclic A...	ORPHA:94089
Adamantinoma	Hypercalcemia	ORPHA:55881
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo...	ORPHA:329918
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Constipation, Stage 3 chronic kidney ...	OMIM:619743
Familial Isolated Hypoparathyroidism	Hypocalcemia, Nephropathy	ORPHA:2238
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:145600
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Hereditary Fructose Intolerance	Chronic kidney disease, Hypophosphatemia, Constipation, Diarrhea, Vomiting, Nausea, Renal insuffi...	ORPHA:469
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Corticosterone Methyloxidase Type I Deficiency	Vomiting, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:203400
East Syndrome	Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re...	ORPHA:199343
Late-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Vomiting, Increased circulating renin level, Hyponatremia, Renal...	ORPHA:556037
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con...	ORPHA:79233
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con...	OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612925
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hematochezia, Hypertriglyceridemia, Hypo...	OMIM:618183
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrolithiasis, Hypophosphatemia, Constipation, Nephroblastoma, Hypercalciuria, Renal cyst, Rena...	ORPHA:99880
Cystinosis, Nephropathic	Exocrine pancreatic insufficiency, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney dis...	OMIM:219800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612926
Glucose-Galactose Malabsorption	Nephrolithiasis, Diarrhea, Hematuria, Hypernatremia, Vomiting, Renal insufficiency, Hypercalcemia	ORPHA:35710
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612922
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Chronic diarrhea	ORPHA:398063
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Renal tubular dysfunction, Aminoaciduria, Glycosuria, Vomiting, Renal Fanconi syndrome, Proteinur...	ORPHA:436271
Parathyroid Carcinoma	Nephrolithiasis, Hypophosphatemia, Constipation, Nephroblastoma, Hypercalciuria, Renal cyst, Rena...	ORPHA:143
Helix Syndrome	Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Renal insufficiency, Hypermagn...	OMIM:617671
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Early-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Vomiting, Increased circulating renin level, Hyponatremia, Renal...	ORPHA:556030
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia, Renal salt wasting	OMIM:614736
Ring Chromosome 10 Syndrome	Renal hypoplasia/aplasia, Hypocalcemia	ORPHA:1438
Preeclampsia	Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,...	ORPHA:275555
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna...	OMIM:613090
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Nephropathy, Renal insufficiency	ORPHA:1563
Tubulointerstitial Nephritis With Uveitis	Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr...	OMIM:607665
Wilson Disease	Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili...	OMIM:277900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypokalemia, Hypocalcemia, Diarrhea, Xerostomia, Vomiting, Hematochezia	OMIM:175500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis	OMIM:241410
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypophosphaturia, Hypocalciuria	ORPHA:73223
Cholera	Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Diarrhea, Vomiting, Abnormal blood ion...	ORPHA:173
Oculocerebrodental Syndrome	Hypocalcemia, Nephrocalcinosis, Hypercalcemia	ORPHA:557003
Gitelman Syndrome	Hypomagnesemia, Hypokalemia, Constipation, Polyuria, Hypocalciuria, Nocturia, Vomiting, Increased...	OMIM:263800
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Hypophosphatemia, Hypocalcemia	ORPHA:93160
Hypophosphatemic Rickets	Renal phosphate wasting, Hypophosphatemia, Hypocalciuria, Hypercalciuria, Renal insufficiency, Hy...	ORPHA:437
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Hypophosphatemic rickets, Horseshoe kidney	OMIM:163200
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ...	ORPHA:94093
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia	ORPHA:2123
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem...	OMIM:613845
Mccune-Albright Syndrome	Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia, Gastroesophageal reflux, In...	ORPHA:562
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp...	OMIM:220110
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ...	OMIM:174000
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst...	OMIM:145001
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti...	OMIM:602522
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n...	OMIM:602088
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia	ORPHA:289157
Timothy Syndrome	Hypocalcemia	OMIM:601005
Non-Functioning Paraganglioma	Elevated urinary dopamine, Hematuria, Nausea, Hypercalcemia, Elevated urinary epinephrine, Elevat...	ORPHA:94080
Primary Hyperoxaluria	Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp...	ORPHA:416
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria	OMIM:615398
Malignant Hyperthermia, Susceptibility To, 2	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:154275
Hereditary Amyloidosis With Primary Renal Involvement	Nephrotic syndrome, Gastroesophageal reflux, Renal tubular atrophy, Decreased glomerular filtrati...	ORPHA:85450
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Hyperbilirubinemia, 3-Methylglutaric aciduria, Steatorrhea, Vo...	OMIM:557000
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos...	ORPHA:289176
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Gastroesophageal reflux, Congenital megaureter, Abnormality of the urinary system, Hypercalciuria...	ORPHA:369837
Rhabdoid Tumor	Renal neoplasm, Hematuria, Hypercalcemia	ORPHA:69077
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Peritonitis, Recurrent urinary tract infections, Elevated circulating creatine kina...	ORPHA:36234
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Elevated creatine kinase after exercise, Acute kidney injury, Hypercalcem...	ORPHA:284426
Malignant Hyperthermia, Susceptibility To, 3	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia	OMIM:154276
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e...	ORPHA:730
Sanjad-Sakati Syndrome	Intestinal obstruction, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis	ORPHA:2323
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:612462
Cerebral Creatine Deficiency Syndrome 2	Episodic vomiting, Elevated circulating guanidinoacetic acid concentration, Decreased serum creat...	OMIM:612736
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease	ORPHA:280062
Multiple Endocrine Neoplasia Type 2	Nephrolithiasis, Constipation, Elevated urinary vanillylmandelic acid, Elevated urinary catechola...	ORPHA:653
Ethylene Glycol Poisoning	Renal tubular dysfunction, Hypocalcemia, Gastritis, Hematuria, Vomiting, Nausea, Renal insufficie...	ORPHA:31826
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine	OMIM:171420
Familial Hypoaldosteronism	Proximal renal tubular acidosis, Diarrhea, Increased circulating renin level, Hyponatremia, Decre...	ORPHA:427
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia	OMIM:617744
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration...	ORPHA:26793
X-Linked Agammaglobulinemia	Hypocalcemia, Chronic diarrhea	ORPHA:47
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia	OMIM:244460
Thyrotoxic Periodic Paralysis	Hypomagnesemia, Constipation, Episodic hypokalemia, Mildly elevated creatine kinase, Urinary rete...	ORPHA:79102
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Hypocalcemia, Micropenis	OMIM:607143
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts...	OMIM:613095
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype...	OMIM:211900
Lowe Oculocerebrorenal Syndrome	Constipation, Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonatu...	OMIM:309000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia	OMIM:600081
Apparent Mineralocorticoid Excess	Hypokalemia, Abnormality of circulating cortisol level, Abnormal urine sodium concentration, Rena...	ORPHA:320
Gitelman Syndrome	Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Constipation, Diarrhea, Noctur...	ORPHA:358
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R...	OMIM:616733
Vitamin D-Dependent Rickets, Type 2A	Hypophosphatemia, Hypocalcemic seizures	OMIM:277440
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:103580
Oculocerebrorenal Syndrome Of Lowe	Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Gastroesophage...	ORPHA:534
Gracile Bone Dysplasia	Hypocalcemia, Micropenis	OMIM:602361
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Chronic diarrhea	ORPHA:90362
Pearson Syndrome	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Lacticaciduria, Steatorrhea, Exocrin...	ORPHA:699
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Ileus, Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Gastritis, Colitis, Decreased prealbumin...	ORPHA:37042
Pseudohypoparathyroidism Type 1C	Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin...	ORPHA:79444
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th...	OMIM:266900
Relapsing Fever	Elevated circulating C-reactive protein concentration, Abnormality of the urinary system, Diarrhe...	ORPHA:91547
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu...	ORPHA:2237
Infection-Related Hemolytic Uremic Syndrome	Acute colitis, Bloody diarrhea, Hypocalcemia, Nephrotic range proteinuria, Diarrhea, Hyperkalemia...	ORPHA:544482
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Diarrhea, Elevated circulating creatinine concentr...	OMIM:235400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl...	OMIM:614376
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Increased urinary potassium, Nausea, Decreased circulating renin level, Glucocortoco...	ORPHA:231580
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hydronephrosis, Hypoproteinemia, Micropenis	OMIM:235255
Adrenocortical Hypofunction, Chronic Primary Congenital	Decreased circulating cortisol level, Hypernatriuria	OMIM:103230
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Increased circulating cortisol level, Increased urinary potassium, Nausea, Decreased...	ORPHA:231625
Acute Adrenal Insufficiency	Constipation, Decreased circulating cortisol level, Diarrhea, Increased circulating renin level, ...	ORPHA:95409
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E...	ORPHA:251004
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine, Hematuria, Nausea, Proteinuria, Hypercalcemia, Elevated urinary epinep...	ORPHA:276621
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Steatorrhea, Diarrhea, Vomiting, Stomatitis, Recurrent aphthous stomatitis	OMIM:212750
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys	OMIM:619111
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent...	OMIM:274150
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypophosphatemia, Hypocalciuria	ORPHA:89936
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Renal salt wasting	OMIM:613743
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hyperphosphatemia	OMIM:614207
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Oligomeganephronia	Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral...	ORPHA:2260
Aapoaiv Amyloidosis	Chronic kidney disease, Hyperlipidemia, Abnormal renal medulla morphology, Renal interstitial amy...	ORPHA:439232
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Pseudohypoparathyroidism Type 1A	Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin...	ORPHA:79443
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal renal morphology, Hydronephrosis	ORPHA:1655
Familial Glucocorticoid Deficiency	Constipation, Decreased circulating cortisol level, Recurrent urinary tract infections, Diarrhea,...	ORPHA:361
Infantile Myofibromatosis	Intestinal obstruction, Abnormality of the kidney, Hypercalcemia	ORPHA:2591
Congenital Disorder Of Glycosylation, Type Iit	Constipation, Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceri...	OMIM:618885
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute colitis, Bloody diarrhea, Hypokalemia, Hemoglobinuria, Peritonitis, Diarrhea, Vomiting, Ele...	ORPHA:90038
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Elevated circulating creatine kinase concentration, Vomiting, Oliguria, Nausea, Hyp...	ORPHA:466650
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Nausea, Ac...	ORPHA:542323
Hemorrhagic Fever-Renal Syndrome	Melena, Chronic kidney disease, Hematemesis, Decreased glomerular filtration rate, Diarrhea, Glom...	ORPHA:340
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hyponatremia, Renal salt wasting	OMIM:300200
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H...	ORPHA:423
Leprechaunism	Hypokalemia, Hypercalciuria, Long penis, Increased circulating renin level, Enlarged kidney, Hype...	ORPHA:508
Multiple Endocrine Neoplasia Type 1	Nephrolithiasis, Melena, Constipation, Gastroesophageal reflux, Hematemesis, Increased circulatin...	ORPHA:652
Papillorenal Syndrome	Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi...	OMIM:120330
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation	Exocrine pancreatic insufficiency, Gastritis, Hypospadias, Microscopic nephrocalcinosis, Meconium...	OMIM:219721
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper...	OMIM:608836
Pheochromocytoma	Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis	OMIM:171300
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Nausea, Proteinuria, Hypercalcemia, E...	ORPHA:29072
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Hypercalcemia, Calcium nephrolithiasis	ORPHA:97289
Hypophosphatasia	Hypercalcemia	ORPHA:436
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level	ORPHA:249
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru...	ORPHA:93126
Igg4-Related Retroperitoneal Fibrosis	Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo...	ORPHA:49041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Constipation, Increased blood urea nitrogen, Gastroesophageal reflux, Abnormal renal physiology, ...	OMIM:223900
Raine Syndrome	Hydroureter, Hypophosphatemia, Hydronephrosis	OMIM:259775
Cystic Fibrosis	Ileus, Exocrine pancreatic insufficiency, Steatorrhea, Meconium ileus, Diarrhea, Hypercalciuria	OMIM:219700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hematuria, Proteinuria	ORPHA:90060
Renal Cysts And Diabetes Syndrome	Nephrolithiasis, Exocrine pancreatic insufficiency, Unilateral renal agenesis, Abnormality of the...	OMIM:137920
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated urinary dopamine, Diarrhea, Nocturia, Vomiting, Elevated ...	ORPHA:230
Multiple Myeloma	Nephrotic syndrome, Hyperproteinemia, Nephropathy, Elevated circulating creatinine concentration,...	ORPHA:29073
Cranioectodermal Dysplasia 1	Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Tubulointerstitial nephriti...	OMIM:218330
Addison Disease	Constipation, Decreased circulating cortisol level, Diarrhea, Increased circulating renin level, ...	ORPHA:85138
Igg4-Related Thyroid Disease	Dysphagia, Hypocalcemia	ORPHA:64744
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Hypocalcemia, Renal tubular acidosis, Proximal renal tubular acidosis, Elevated ...	ORPHA:2785
Congenital Disorder Of Glycosylation, Type Ih	Diarrhea, Vomiting, Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Hypercalciuria, Renal dysplasia	OMIM:300990
Cartilage-Hair Hypoplasia	Hypocalcemia, Mucopolysacchariduria	ORPHA:175
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Exocrine pancreatic insufficiency, Congenital megaureter, Elevated alpha-fetopro...	ORPHA:116
Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hydronephrosis	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis	ORPHA:163979
Visceral Steatosis, Congenital	Renal steatosis, Hypocalcemia	OMIM:228100
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc...	OMIM:619991
Williams Syndrome	Constipation, Proteinuria, Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Abnormal c...	ORPHA:904
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Hypospadias, Vomiting, Increased circulating renin level, P...	ORPHA:90791
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Williams-Beuren Syndrome	Bladder diverticulum, Gastroesophageal reflux, Constipation, Micropenis, Recurrent urinary tract ...	OMIM:194050
Senior-Boichis Syndrome	Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog...	ORPHA:84081
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Renal dysplasia, Ureteropelvic junction obstruction, Elevated circ...	OMIM:154230
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Diarrhea, Hematochezia, Intestinal obstruction, Nausea, Hyp...	ORPHA:913
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Abnormal penis morphology, Hyperphosphatemia	ORPHA:457059
Acrodysostosis With Multiple Hormone Resistance	Hypospadias, Hypocalcemia, Hyperphosphatemia	ORPHA:280651
Sarcoidosis	Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Hypercalcemia...	ORPHA:797
Late-Onset Isolated Acth Deficiency	Constipation, Decreased circulating cortisol level, Diarrhea, Hyponatremia, Hypercalcemia, Hyperu...	ORPHA:199299
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Gastroesophageal reflux, Recurrent urinary tract infections, Vomiting, Unconjugated...	OMIM:613658
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Gastrointestinal hemorrh...	ORPHA:247691
22Q11.2 Deletion Syndrome	Hypocalcemia, Gastroesophageal reflux, Constipation, Hypospadias, Multiple renal cysts, Polycysti...	ORPHA:567
Lysosomal Acid Lipase Deficiency	Steatorrhea, Diarrhea, Abnormal urine potassium concentration, Vomiting, Hypertriglyceridemia, Hy...	ORPHA:275761
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Osteogenesis Imperfecta	Nephrolithiasis, Constipation, Hypercalciuria, Intestinal obstruction, Dysphagia	ORPHA:666
Hennekam Syndrome	Hypocalcemia, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased urinary 11-deoxycorticosterone level...	ORPHA:90795
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Urogenital sinus anomaly, Midshaft hypospadias, Decreased circulating cortisol level, Abnormal ur...	ORPHA:168558
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Chronic constipation, Hypercalcemia, Urinary incontinence	ORPHA:476126
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Urogenital sinus anomaly, Midshaft hypospadias, Decreased circulating cortisol level, Abnormal ur...	ORPHA:289548
Igg4-Related Kidney Disease	Chronic kidney disease, Abnormal ureter morphology, Elevated circulating C-reactive protein conce...	ORPHA:449395
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Hypercalciuria	OMIM:181000
Multiple Endocrine Neoplasia, Type I	Esophagitis, Diarrhea, Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypercalcemia	ORPHA:98292
Thymic Aplasia	Diarrhea, Hypocalcemic tetany, Recurrent urinary tract infections	ORPHA:83471
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Hyperphosphatemia	OMIM:101800
Monosomy 13Q34	Fetal pyelectasis, Infantile hypercalcemia, Hematochezia	ORPHA:96168
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Medullary nephrocalcinosis, Vomiting, Hyperphosphaturia, Cortical nephr...	ORPHA:51608
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Renal angiomyolipoma, Diarrhea, Hypercalcemia, Esophagitis,...	ORPHA:276152
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Ppoma	Constipation, Increased circulating cortisol level, Diarrhea, Intestinal obstruction, Hypercalcem...	ORPHA:97278
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Somatostatinoma	Constipation, Increased circulating cortisol level, Steatorrhea, Diarrhea, Intestinal obstruction...	ORPHA:97283
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency	OMIM:617478
Glucagonoma	Constipation, Increased circulating cortisol level, Steatorrhea, Diarrhea, Intestinal obstruction...	ORPHA:97280
Digeorge Syndrome	Hypocalcemia, Gastroesophageal reflux, Unilateral renal agenesis, Renal dysplasia, Renal insuffic...	OMIM:188400
Gaisböck Syndrome	Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hypernatriuria, Hyperu...	ORPHA:90041
Grfoma	Constipation, Increased circulating cortisol level, Diarrhea, Intestinal obstruction, Hypercalcem...	ORPHA:97261
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypomagnesemia, Hypocalcemia, Micropenis, Unilateral renal agenesis, Urinary urgency, Dysphagia, ...	OMIM:619503
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration	ORPHA:97292
Vipoma	Hypokalemia, Secretory diarrhea, Hypercalcemia, Increased circulating cortisol level	ORPHA:97282
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Hypocalcemia, Micropenis, Hypospadias, Increased VLDL choleste...	OMIM:243800
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Aminoaciduria...	ORPHA:91500
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Diarrhea, Hypoalbuminemia, Hypercalcemia, Hyponatremia	ORPHA:88673
Marburg Hemorrhagic Fever	Bloody diarrhea, Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration,...	ORPHA:99826
Charge Syndrome	Hypocalcemia, Micropenis, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Dys...	OMIM:214800
Yellow Fever	Hyperbilirubinemia, Hematemesis, Elevated circulating creatine kinase concentration, Diarrhea, Vo...	ORPHA:99829
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Urogenital sinus anomaly, Decreased circulating cortisol level, Vomiting, Long penis, Hypernatriu...	ORPHA:90794
Biliary, Renal, Neurologic, And Skeletal Syndrome	Increased circulating ferritin concentration, Dark urine, Gastroesophageal reflux, Hyperbilirubin...	OMIM:619534
Sotos Syndrome	Gastroesophageal reflux, Constipation, Renal agenesis, Abnormality of the kidney, Hypospadias, Ur...	ORPHA:821
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Pulmonary Alveolar Microlithiasis	Increased circulating surfactant protein level, Hematuria, Calcium nephrolithiasis	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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us