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

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 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.

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 Similarity of
phenotypes
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.

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MGI Allele Allele Type Produced
Slc34a2tm44718(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc34a2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc34a2em1(IMPC)Ccpcz Exon Deletion Mice
Slc34a2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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