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Gene: Slc26a1 MGI:2385894

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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 26 (sulfate transporter), member 1
Synonyms:
Sat1

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 Slc26a1 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 Slc26a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030

The table below shows human diseases predicted to be associated to Slc26a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat... OMIM:300555
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal... OMIM:616963
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Vomiting, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria... OMIM:143880
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Vomiting, Renal tubular acidosis, Hypercalciuria, Hypercalcemia OMIM:239199
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Dia... ORPHA:94086
5-Oxoprolinase Deficiency
Diarrhea, Prolinuria, Vomiting, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Calci... OMIM:260005
Sucrase-Isomaltase Deficiency, Congenital
Decreased mucosal sucrase-isomaltase activity, Diarrhea, Nephrolithiasis OMIM:222900
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... ORPHA:284426
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... OMIM:231100
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Elevated c... ORPHA:2088
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Hypercalcemia OMIM:145980
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtrat... ORPHA:94088
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Vomiting, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Elevated gamma-glutamyltransferase level, Intrahepatic c... OMIM:227810
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency ORPHA:2668
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... OMIM:248190
Small Cell Carcinoma Of The Bladder
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections ORPHA:284400
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrol... OMIM:145001
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Granulomatous Slack Skin
Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Sulfite oxidase... ORPHA:3467
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
2P21 Microdeletion Syndrome
Cystinuria, Hypocalcemia, Nephrolithiasis ORPHA:163693
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... OMIM:179800
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis OMIM:612287
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Glucose-Galactose Malabsorption
Vomiting, Diarrhea, Renal insufficiency, Nephrolithiasis, Hematuria, Osmotic diarrhea, Hypercalce... ORPHA:35710
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:602114
Dent Disease
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... ORPHA:1652
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia OMIM:614732
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hypophosphatemia, Hypercalciuria, Polyuria, Calci... OMIM:239200
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Increased phosphoribosylpyrophosphate synthe... ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentratio... OMIM:248250
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Xanthinuria, Type I
Hypouricemia, Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithi... OMIM:278300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Hypophosphatemic rickets, Renal tubular dysfunc... OMIM:241530
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Hypercalcemia, Renal neoplasm ORPHA:69077
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ... ORPHA:94059
Hyperglycinuria
Calcium oxalate nephrolithiasis, Hyperglycinuria OMIM:138500
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Hypophosphatasia, Infantile
Nephrocalcinosis, Vomiting, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Low alkaline p... OMIM:241500
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Increased circula... ORPHA:139507
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu... OMIM:231530
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circ... ORPHA:33402
Oculoskeletodental Syndrome
Renal agenesis, Hypocalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hepatomegaly, ... OMIM:618440
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Dica... OMIM:201475
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Increased circulating lactate dehydrogenase con... ORPHA:99845
Non-Functioning Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Nausea, Elevat... ORPHA:94080
Primary Fanconi Renotubular Syndrome
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... ORPHA:3337
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:601678
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Vomiting, Low-molecular-weight p... ORPHA:18
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Adamantinoma
Hypercalcemia ORPHA:55881
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... ORPHA:73224
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Hyperphosphaturia, Elevated circulating alkaline phosphatase concentration, Hyp... OMIM:156400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Glycosuria, Renal tubu... OMIM:614817
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Increased phosphoribosylpyrophosphate synthetase level, Renal insufficiency,... ORPHA:411543
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Cystinuria, Hypocalcemia, Nephrolithiasis OMIM:606407
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Vomiting, Hypomagnesemia, Stage 5 ... ORPHA:89938
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D... ORPHA:26791
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... OMIM:162000
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... OMIM:614034
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300323
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Hematuria, Nephrolithiasis ORPHA:2196
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Diarrhea, Vomiting, Glycosuria, Hypernatriuria, Low-molecular-we... ORPHA:47159
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentration, Dec... OMIM:211900
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis ORPHA:163690
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Reduced hepatic glyoxylate reductase activity, Hyperoxaluria, Renal insufficien... OMIM:260000
Familial Hyperaldosteronism Type Iii
Hypokalemia, Nausea, Hypercalciuria ORPHA:251274
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232200
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... ORPHA:93598
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... OMIM:617671
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetan... ORPHA:36913
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Nephroblastoma... ORPHA:99880
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nephrolithiasis, Elevated circulating creatine kinase concentration, Nausea, Dysphagia ORPHA:352447
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... OMIM:137920
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypoplasia of penis, Hypospadias, Nephrolithiasis ORPHA:1816
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Nephroblastoma... ORPHA:143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis OMIM:617994
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum prostagland... OMIM:241200
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinuria, Hyperuricemia, Elevated circulating alkaline phosphatase co... OMIM:239000
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin... ORPHA:416
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Hypocalcemia, Hyperca... ORPHA:428
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Infantile Myofibromatosis
Hypercalcemia, Neoplasm of the pancreas, Abnormality of the kidney, Intestinal obstruction ORPHA:2591
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:203400
Cystinuria
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis ORPHA:214
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ... OMIM:612780
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Decreased urinary urate, Increased urinary taurine, Sulfite oxidase deficiency, Ald... OMIM:252150
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula... ORPHA:100093
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, I... OMIM:605911
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:557000
Juvenile Nephropathic Cystinosis
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia ORPHA:97289
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Nephrolithiasis, ... OMIM:617321
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal... ORPHA:85450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration OMIM:602080
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie... ORPHA:182050
Galactosemia I
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Diarrhea, Vomiting... OMIM:230400
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Vomiting, Hypomagnesemia, Hypokalemia, Constipa... OMIM:263800
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated circulating alkalin... OMIM:193100
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... OMIM:612526
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase conc... ORPHA:89937
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Renal sodium... ORPHA:199343
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag... OMIM:219800
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Spinal Cord Injury
Paralytic ileus, Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Acute Adrenal Insufficiency
Diarrhea, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Constipa... ORPHA:95409
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal pyelectasis OMIM:619365
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Hy... ORPHA:247353
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Flotch Syndrome
Inflammatory abnormality of the eye, Blepharitis, Nephrolithiasis ORPHA:2045
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level OMIM:610600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Nephrolithiasis ORPHA:93160
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Multiple Endocrine Neoplasia Type 2
Diarrhea, Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Elevated... ORPHA:653
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:100025
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration OMIM:619073
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ne... ORPHA:29073
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Vomiting, Diarrhea, Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:264350
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis OMIM:217090
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Bronchiectasis, Exocrine pancreatic insufficien... OMIM:219700
Hypophosphatasia
Hypercalcemia ORPHA:436
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Monosomy 13Q34
Hematochezia, Hypercalcemia, Hepatic steatosis, Fetal pyelectasis ORPHA:96168
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Gastroesophageal reflux, Low alkaline phosph... ORPHA:369837
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Unconjugated hyperbilirubinemia, Jaundice, El... OMIM:606785
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Nephrolithiasis OMIM:620023
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Tubulointerstiti... ORPHA:79259
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Vomiting, Hypokalemia, Abnormal magnesium... OMIM:241150
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis OMIM:619827
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Diarrhea, Vomiting, Micronodular cirrh... OMIM:256810
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nausea, Nephrolithiasis ORPHA:369929
Refractory Celiac Disease
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit... ORPHA:398063
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Lesch-Nyhan Syndrome
Nephrocalcinosis, Vomiting, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Dysphagia OMIM:300322
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Bacterial Toxic-Shock Syndrome
Diarrhea, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concentr... ORPHA:36234
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Porphyria Cutanea Tarda
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... ORPHA:101330
Late-Onset Familial Hypoaldosteronism
Vomiting, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c... OMIM:615862
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Hyperlipidemia, Neonatal cho... OMIM:214900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... OMIM:613845
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Vomiting, Dicarboxylic ... OMIM:613070
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Increased circulating lactate d... ORPHA:93552
Early-Onset Familial Hypoaldosteronism
Vomiting, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Familial Hypoaldosteronism
Diarrhea, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt ... ORPHA:427
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Diarrhea, Dicarboxylic acidur... OMIM:255120
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Neuroleptic Malignant Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ... ORPHA:94093
Diarrhea 13
Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Secretory dia... OMIM:620357
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Elevated ... OMIM:229600
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:614582
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Addison Disease
Diarrhea, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Decreased urinary potassium, Consti... ORPHA:85138
Late-Onset Isolated Acth Deficiency
Diarrhea, Hepatitis, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Constipation, Hypercalcemia ORPHA:199299
Colchicine Poisoning
Oliguria, Diarrhea, Vomiting, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyp... ORPHA:31824
Acute Liver Failure
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Hepatitis... ORPHA:90062
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chronic otitis media... ORPHA:534
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Hypocalcemia, Skin rash, Recurrent cutaneous absce... ORPHA:47
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Diarrhea, Gastrointestinal hemorrhage, Neoplasm of the ... ORPHA:97278
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Increased urinary cortisol level, Esophagiti... ORPHA:913
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... OMIM:252160
Sarcoidosis
Nephrocalcinosis, Hepatic failure, Decreased liver function, Parotitis, Renal insufficiency, Port... ORPHA:797
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Oncogenic Osteomalacia
Renal phosphate wasting, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, H... ORPHA:352540
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia, Elevated circulating alk... OMIM:613312
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Neoplasm of the pancreas, Intest... ORPHA:97283
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:94089
Leigh Syndrome, Nuclear
Hepatocellular necrosis OMIM:256000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Chronic constipation ORPHA:476126
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia, Hy... OMIM:612462
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Systemic Lupus Erythematosus
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis OMIM:152700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... OMIM:201450
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Glucagonoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Stomatitis, Skin rash, Intestina... ORPHA:97280
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ... ORPHA:228305
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis OMIM:219090
Cholera
Acute kidney injury, Diarrhea, Vomiting, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponat... ORPHA:173
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal u... ORPHA:320
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:613404
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hyperlipidemia, Hepatic steatosis, Nephrolithiasis, Renal cell ... ORPHA:189427
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati... OMIM:619644
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarr... ORPHA:275761
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra... OMIM:611489
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis... OMIM:617913
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... OMIM:615605
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Diarrhea, Gastrointestinal hemorrhage, Neoplasm of the ... ORPHA:97261
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... OMIM:619662
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Hepatomegaly, Enlarged kidney, Increas... ORPHA:508
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia OMIM:614736
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... OMIM:278000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Lysinuric Protein Intolerance
Diarrhea, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis... ORPHA:470
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Decreased pla... ORPHA:157
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... OMIM:613490
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... ORPHA:26793
Osteopetrosis With Renal Tubular Acidosis
Distal renal tubular acidosis, Abnormal circulating enzyme concentration or activity, Renal tubul... ORPHA:2785
Vipoma
Intrahepatic cholestasis, Secretory diarrhea, Neoplasm of the pancreas, Intermittent jaundice, Hy... ORPHA:97282
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Splenomegaly... OMIM:617303
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... OMIM:613812
Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Urolithiasis, Renal insufficiency, Gout, ... OMIM:300661
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce... OMIM:143500
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Hepatosplenomegaly, Hypophosphatemic rickets, Renal tubular dysfunction,... OMIM:307800
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr... OMIM:617093
Porphyria Variegata
Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Abnormality of t... ORPHA:79473
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased urinary cortisol level, Insulinoma, Esophagitis, Renal angiomyolipoma, Abnorm... ORPHA:276152
Sebocystomatosis
Nephrolithiasis ORPHA:841
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:210500
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating hepatic transaminase concentration, Abnormal urinary color, E... ORPHA:98895
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper... OMIM:619111
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Diarrhea, Increased urinary glycerol, Cholestasis, Incr... ORPHA:247598
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy OMIM:314300
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem... OMIM:603860
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Secretory diarrhea, Hypomagnesemia, Hypocalcemia, Hyponatremia, Po... OMIM:618183
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Pearson Syndrome
Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic spleen, Dysphagia, Abnormality of ... ORPHA:699
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Horseshoe kidney, Abnormal mesentery morphology, Nephrolit... ORPHA:2953
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Elevated circulating alkaline phosphatase concentration,... OMIM:264700
Beckwith-Wiedemann Syndrome
Nephropathy, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Vesicoureteral refl... ORPHA:116
Simple Cryoglobulinemia
Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellularity, Proteinu... ORPHA:91139
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Dicarboxylic ... ORPHA:228308
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi... OMIM:301068
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Hypophos... ORPHA:263455
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hyd... ORPHA:1655
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Multiple Endocrine Neoplasia, Type I
Diarrhea, Insulinoma, Esophagitis, Pancreatic islet cell adenoma, Hypercalcemia OMIM:131100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Hypocalcemia, Splenomegaly, Hydronephrosis, Micrope... OMIM:235255
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... OMIM:608594
Multiple Endocrine Neoplasia Type 1
Diarrhea, Gastroesophageal reflux, Vomiting, Insulinoma, Nephrolithiasis, Hypercalciuria, Constip... ORPHA:652
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... OMIM:269700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Malar rash, Splenomegaly, Hepatomegaly, Nephrotic syndrome OMIM:603909
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Cystic Fibrosis
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Bronchiectasis,... ORPHA:586
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... OMIM:259900
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Elevated circulating alkaline phosphatase concentration,... ORPHA:289157
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... OMIM:619355
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased circulating lactate dehydrogena... ORPHA:91547
Mucopolysaccharidosis, Type X
Dermatan sulfate excretion in urine, Nephrolithiasis OMIM:619698
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Alkaptonuria
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... OMIM:203500
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,... ORPHA:1667
Leukonychia Totalis
Blepharitis, Nephrolithiasis ORPHA:2387
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:616629
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Vomiting, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular d... ORPHA:436271
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Elevated gamma-glutamyltransferase level, Giant cel... OMIM:208085
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthritis ORPHA:53
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Psoriasiform dermatitis, Renal insufficiency, Hypocalcemia, Vesicouret... ORPHA:2237
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Osteomyelitis, Hypocalcemia, Elevated ... OMIM:259700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Xerostomia, Vomiting, Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... ORPHA:139402
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Williams-Beuren Syndrome
Renal hypoplasia, Enuresis, Nephrocalcinosis, Gastroesophageal reflux, Recurrent urinary tract in... OMIM:194050
Tyrosinemia, Type Iii
Elevated circulating hepatic transaminase concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydro... OMIM:276710
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Developmental And Epileptic Encephalopathy 111
Nephrolithiasis OMIM:620504
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Secretory diarrhea, Acute c... ORPHA:544482
Williams Syndrome
Chronic otitis media, Cholelithiasis, Gastroesophageal reflux, Renal insufficiency, Renal duplica... ORPHA:904
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Elevated circulating alkaline phosphatase concentration, ... ORPHA:89936
Infantile Nephropathic Cystinosis
Aminoaciduria, Vomiting, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal t... ORPHA:411629
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Diarr... ORPHA:264580
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro... ORPHA:53035
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hype... OMIM:251000
Ethylene Glycol Poisoning
Vomiting, Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Dec... ORPHA:31826
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Chronic ... OMIM:203800
Familial Glucocorticoid Deficiency
Diarrhea, Vomiting, Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Constipatio... ORPHA:361
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Glycosuria, Ketonuria ORPHA:2089
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:620138
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:242150
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Elevated circulating alkaline phosphatase concentration ORPHA:249
Gracile Bone Dysplasia
Micropenis, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Splenomegaly, Iridocyclitis, Hypercalciuria, Arthritis, Hepa... OMIM:181000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Eczematoid dermatiti... OMIM:212750
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Gapo Syndrome
Nephrolithiasis ORPHA:2067
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn... OMIM:619991
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Interstitial pneumonitis, Hepatic necrosis OMIM:127550
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Diarrhea, Hypomagnesemia, Gout, Hy... ORPHA:358
Hypoplasminogenemia
Decreased level of plasminogen, Periodontitis, Cervicitis, Nephrolithiasis ORPHA:722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration OMIM:600081
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Dark urine, Hy... ORPHA:521219
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ab... ORPHA:79240
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hepatic failure, Decreased liver function, Vomi... ORPHA:466650
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Cystic Echinococcosis
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated... ORPHA:400
Cranioectodermal Dysplasia 1
Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failu... OMIM:218330
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Elevated circulating hepatic transaminase concentration, Abnormality of the kidney, Ele... ORPHA:54251
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Hypocalcemia, Chronic diarrhea, Hypoprotein... ORPHA:90362
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Enuresis, Elevated circulating hepatic transaminase concentrat... ORPHA:247585
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux, Horseshoe k... OMIM:301111
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In... OMIM:617595
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Zygomycosis
Diarrhea, Pustule, Colitis, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage... ORPHA:73263
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Renal dysplasia OMIM:300990
Listeriosis
Diarrhea, Arteritis, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Periton... ORPHA:533
Alkaptonuria
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigment gallstones, Nephroli... ORPHA:56
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Biliary cirrhosis, Glycosuria, Abnorm... ORPHA:2298
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux... OMIM:613658
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, I... ORPHA:90791
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... OMIM:220110
Timothy Syndrome
Pneumonia, Hypocalcemia OMIM:601005
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Nephrolithiasis OMIM:613848
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Nephrolithiasis ORPHA:521445
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis, Elevated circulati... ORPHA:800
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Intestinal obstruction ORPHA:2323
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hematuria, Hepatomegaly, Increased circulating surfactant protein level,... ORPHA:60025
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Acute tubulointerstitial nephriti... ORPHA:340
Igg4-Related Thyroid Disease
Hypocalcemia, Sclerosing cholangitis, Hashimoto thyroiditis, Pancreatic fibrosis, Dysphagia, Thyr... ORPHA:64744
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Chronic hepatic failure, Hypocalcemia, Diffuse hepatic steatosis ORPHA:746
Legius Syndrome
Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis ORPHA:137605
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias OMIM:201910
Zimmermann-Laband Syndrome 1
Long penis, Gastroesophageal reflux, Splenomegaly, Nephrolithiasis, Hepatomegaly OMIM:135500
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatome... OMIM:618278
Osteogenesis Imperfecta
Intestinal obstruction, Nephrolithiasis, Constipation, Hypercalciuria, Osteoarthritis, Dysphagia ORPHA:666
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Mccune-Albright Syndrome
Renal phosphate wasting, Gastroesophageal reflux, Hepatitis, Cholestasis, Hyperphosphaturia, Rena... ORPHA:562
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Elevated circulating C-reactive pro... ORPHA:449427
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Recurrent pneumonia, Hypospadias, Hypocalcemia OMIM:607143
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:79444
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Recurrent urinary tract infections, Hypocalcemic teta... ORPHA:83471
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Vomiting, Hyperkalemia, Increased circulating renin level OMIM:620126
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... OMIM:243910
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis,... ORPHA:774
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... ORPHA:90795
Schinzel-Giedion Syndrome
Recurrent pneumonia, Annular pancreas, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis... ORPHA:798
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Sotos Syndrome
Hypospadias, Gastroesophageal reflux, Renal agenesis, Renal insufficiency, Vesicoureteral reflux,... ORPHA:821
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Vomiting, Abnormal circulating cholesterol concentration, Hypernatriuria, A... ORPHA:168558
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Vomiting, Abnormal circulating cholesterol concentration, Hypernatriuria, A... ORPHA:289548
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Constipatio... ORPHA:79102
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hyperphosphaturia, Ent... ORPHA:289176
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Gastroesophageal reflux, Aspiration pneumonia, Vesicour... ORPHA:438213
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly, Hepatomegaly OMIM:259720
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... ORPHA:391641
Craniofacioskeletal Syndrome
Hydronephrosis, Absent gallbladder, Hypospadias, Hypocalcemia OMIM:300712
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Renal insufficiency, Skin rash, Intestinal obstruction, Hematuria, Prote... ORPHA:183
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Abnormality of the urinary system, Gastroesophageal reflux, Recurrent urinary tract in... ORPHA:353281
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy... ORPHA:79443
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hyper... ORPHA:90041
Cartilage-Hair Hypoplasia
Hepatomegaly, Mucopolysacchariduria, Hypocalcemia, Abnormality of the pancreas ORPHA:175
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis OMIM:619351
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:270150
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hypophosphatemic rickets, Hyperphosphaturia OMIM:163200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Abnormality of the urinary system, Gastroesophageal reflux, Recurrent urinary tract in... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Abnormality of the urinary system, Gastroesophageal reflux, Recurrent urinary tract in... ORPHA:353277
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin... OMIM:124000
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Hennekam Syndrome
Erysipelas, Horseshoe kidney, Splenomegaly, Hypocalcemia, Ectopic kidney ORPHA:2136
Lead Poisoning
Chronic kidney disease, Vomiting, Increased LDL cholesterol concentration, Skin rash, Renal tubul... ORPHA:330015
22Q11.2 Deletion Syndrome
Acne, Renal hypoplasia, Cholelithiasis, Gastroesophageal reflux, Gastrointestinal hemorrhage, Ves... ORPHA:567
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Gastroesophageal reflux, Recurrent pneumonia, Recurren... OMIM:188400
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Increased circulating lactate dehydroge... OMIM:309000
Johanson-Blizzard Syndrome
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Hepatic fai... OMIM:243800
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Otitis media, Chronic rhinitis, Splenomegaly, Hypophosphatemia, Hepatomegaly ORPHA:667
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Tubulointerstitial Nephritis And Uveitis Syndrome
Scleritis, Elevated circulating C-reactive protein concentration, Tubulointerstitial nephritis, A... ORPHA:91500
Cocaine Intoxication
Acute kidney injury, Vomiting, Increased circulating lactate dehydrogenase concentration, Elevate... ORPHA:90068
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract... ORPHA:90349
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Long penis, Vomiting, Hypernatriuria, Hyponatremia, Elevated urinary epinephrine level, Urogenita... ORPHA:90794
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hepatitis, R... ORPHA:227990
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypophosphaturia, Hypocalciuria ORPHA:73223
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Atopic dermatitis, Hypomagnesemia, Cholestasis, Recurrent otitis media... OMIM:619503
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hepatitis, R... ORPHA:227982
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis OMIM:181270
Primary Sjögren Syndrome
Biliary cirrhosis, Xerostomia, Arteritis, Chronic active hepatitis, Parotitis, Renal insufficienc... ORPHA:289390
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Eczematoid dermatitis, Hypocalcemia, Hydronephrosis, Constipation OMIM:620330
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Vomiting, Pyelonephritis, Bladder diverticulum, Bronchiectasis ORPHA:90348
Intermediate Uveitis
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hypocalcemia, Hydronephrosis, Micropenis, Dys... OMIM:214800
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Vomiting, Cortical nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatem... ORPHA:51608
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Myositis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Thyroiditis, Retr... ORPHA:79078

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 Slc26a1

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 Slc26a1.

No publications found that use IMPC mice or data for Slc26a1.

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MGI Allele Allele Type Produced
Slc26a1tm99098(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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