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

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 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
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Hyperox... 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
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Hypercalcemia, Renal insufficiency, Nausea OMIM:240150
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Elevated alkaline phosphatase of bone origin, Hy... OMIM:613388
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Vomiting, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria OMIM:239199
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Elevated hepatic transaminase, Diarrhea, Hyperphosphatemia, Blue... ORPHA:94086
5-Oxoprolinase Deficiency
Prolinuria, Vomiting, Calcium oxalate nephrolithiasis, Reduced 5-oxoprolinase level, Enterocoliti... OMIM:260005
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration, Nephrocalcinosis OMIM:211000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria OMIM:612286
Hypercalcemia, Infantile, 1
Vomiting, Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria OMIM:143880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivasc... ORPHA:284426
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Increased h... ORPHA:2088
Sucrase-Isomaltase Deficiency, Congenital
Decreased mucosal sucrase-isomaltase activity, Diarrhea, Nephrolithiasis OMIM:222900
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Pancreatitis, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria OMIM:145980
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Small Cell Carcinoma Of The Bladder
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria ORPHA:284400
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Hypokalemia, Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis OMIM:602722
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Patent ductus arteriosus, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia ORPHA:2239
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Nephrolithiasi... ORPHA:157215
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Granulomatous Slack Skin
Hypercalcemia, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Hereditary Renal Hypouricemia
Hypouricemia, Vomiting, Nausea, Uric acid urolithiasis independent of gout, Abnormal renal physio... ORPHA:94088
Wilson Disease
Hepatomegaly, Dysphagia, Renal tubular dysfunction, Hyperphosphaturia, Aminoaciduria, Hepatocellu... OMIM:277900
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephrolithiasis, Renal cortical... OMIM:145001
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Micropenis, Hypercalciuria OMIM:614732
Hereditary Xanthinuria
Hypouricemia, Aldehyde oxidase deficiency, Hyperxanthinemia, Decreased urinary urate, Increased u... ORPHA:3467
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypomagnesemia, Recurrent urinary tract... OMIM:248190
Cystathioninuria
Nephrolithiasis, Cystathioninuria, Cystathioninemia ORPHA:212
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Pancreatiti... OMIM:145981
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis OMIM:612287
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Arthritis, Hyperuricosuria, Hyperuricemia... ORPHA:411536
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Hypocalcemia ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Glucose-Galactose Malabsorption
Hypercalcemia, Vomiting, Hypernatremia, Hematuria, Nephrolithiasis, Diarrhea, Renal insufficiency ORPHA:35710
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro... OMIM:602114
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hepatomegaly, Calcinosis, Hyperphosphaturia, Aminoaciduria, Hypophosphatemia, Sple... OMIM:239200
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Reduced xanthine dehy... OMIM:278300
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Pancreatitis, Nephrolithia... OMIM:600740
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... OMIM:300554
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Pancreatitis, Nephrolithiasis, Parathormon... ORPHA:405
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Vomiting, Depletion of mitochon... OMIM:251880
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Neoplasm of the liver ORPHA:69077
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Nephrolithiasis OMIM:614723
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Uremic Pruritus
Inflammatory abnormality of the skin, Hypercalcemia, Elevated total serum tryptase, Chronic kidne... ORPHA:94059
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Elevated circulating creatinine concentration, Decreased glomerular filtration ... ORPHA:730
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Episodic vomiting, Elevated circulating creatine kinase co... OMIM:201475
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Vomiting, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Abnormal circulating ac... ORPHA:71212
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Elevated circulating alkali... OMIM:241530
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Hypouricemia, Renal, 1
Hypouricemia, Renal tubular epithelial necrosis, Acute kidney injury, Uric acid nephrolithiasis, ... OMIM:220150
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Elevated... ORPHA:99845
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Vomiting, Nephrocalcinosis, Elevated plasma pyrophos... OMIM:241500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepati... OMIM:231530
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi... ORPHA:79233
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Renal cortical cysts, Generalized aminoaciduria, Vomiting, N... OMIM:231680
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot... ORPHA:3337
Renal Tubular Acidosis Iii
Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Nephrocalcinosis OMIM:267200
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Polyuria, Hypokalemia, Hypercalciuria OMIM:613677
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Renal salt wasting, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemi... OMIM:601678
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Oculoskeletodental Syndrome
Hypercalcemia, Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Splenomegaly, Hypocalcemia, H... OMIM:618440
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Vomiting, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, ... ORPHA:18
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Gout, Arthritis, Hyperuricemia, Hyperuric... ORPHA:411543
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Nausea, Hematuria, Elevated urinary norepinephrine, ... ORPHA:94080
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Elevated circulating alkali... OMIM:156400
Tubular Renal Disease-Cardiomyopathy Syndrome
Hepatic calcification, Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hyperpro... ORPHA:73224
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Urolithiasis, Uric Acid, Autosomal Dominant
Uric acid urolithiasis independent of gout OMIM:191700
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic fibrosis, Vomiting, Hepatic necrosis, Elevated alpha-fetoprotein ORPHA:33402
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Dysphagia, Vomiting, Lacticaciduria, Elevated circulating cr... ORPHA:26791
Heme Oxygenase 1 Deficiency
Hepatomegaly, Asplenia, Hematuria, Nephritis, Increased circulating ferritin concentration, Eleva... OMIM:614034
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria, Hypocalcemia OMIM:606407
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentration, He... OMIM:614817
Hyperuricemia, Hprt-Related
Nephrolithiasis, Podagra, Hyperuricosuria, Hyperuricemia, Renal insufficiency OMIM:300323
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Dysphagia, Nephrocalcinosis, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreat... ORPHA:99880
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... OMIM:607364
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Vomiting, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting re... ORPHA:47159
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Gout, Hyperuricosuria, Hyperuricemia, Uri... OMIM:300661
Helix Syndrome
Hypokalemia, Xerostomia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insuffi... OMIM:617671
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... OMIM:232200
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia, Nausea ORPHA:251274
Primary Hyperoxaluria Type 1
Calcinosis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Decreased glomerular filtration rate, Dys... ORPHA:93598
Parathyroid Carcinoma
Hypercalcemia, Dysphagia, Nephrocalcinosis, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreat... ORPHA:143
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Nausea, Elevated circulating creatine kinase concentration, Nephrolithiasis, Diarrhea ORPHA:352447
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephrolithiasis, Nephropathy ORPHA:2196
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... OMIM:104200
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Chronic mucocutaneous candidiasis, Hypocalcemia, Calc... ORPHA:36913
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Vomiting, Nephrocalcinosis, Chronic kidney disease, Hypochloremia, Hyp... ORPHA:89938
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypospadias, Hypoplasia of penis, Nephrolithiasis ORPHA:1816
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Unilateral renal agenesis... OMIM:137920
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... ORPHA:564178
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Proteinuria, Elevated urinary norepinephrine OMIM:171420
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... OMIM:612780
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Vomiting, In... OMIM:241200
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematur... ORPHA:416
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... ORPHA:251004
Infantile Myofibromatosis
Intestinal obstruction, Hypercalcemia, Neoplasm of the pancreas, Abnormality of the kidney ORPHA:2591
Autosomal Dominant Hypocalcemia
Eczema, Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperph... ORPHA:428
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... OMIM:232220
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Nausea, Hematuria, Glomerular sclerosis, Elevated ur... ORPHA:276621
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Microscopic hematuria, Chronic ki... ORPHA:411634
Oculocerebrodental Syndrome
Hypercalcemia, Nephrocalcinosis, Hypocalcemia ORPHA:557003
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Aldehyde oxidase deficiency, Xanthinuria, Increased urinary thiosulfate, Absent uri... OMIM:252150
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Vomiting, Renal salt wasting, Increased circulating renin level OMIM:203400
Yao Syndrome
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Pericarditis, Xerostomia, Nephr... OMIM:617321
Thymic Neuroendocrine Tumor
Hypercalcemia, Pancreatic islet cell adenoma, Calcium nephrolithiasis ORPHA:97289
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis, Abnormal B-type natriuretic peptide level, Protr... ORPHA:100093
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hyp... ORPHA:89937
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemia, Elevated circulating alkaline phosphatase concentratio... OMIM:193100
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Elevated circulating alkaline ph... ORPHA:84081
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... ORPHA:228302
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Myh9-Related Disease
Nephritis, Nephropathy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency ORPHA:182050
Gitelman Syndrome
Renal magnesium wasting, Hypokalemia, Vomiting, Hypomagnesemia, Hypocalciuria, Renal potassium wa... OMIM:263800
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Nephrolithiasis, Recurrent urinary tract infections, Fetal pyelectasis, Hypoperistalsis OMIM:619365
Flotch Syndrome
Blepharitis, Inflammatory abnormality of the eye, Nephrolithiasis ORPHA:2045
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Decreased urinary potassium, Hyperuricemia, Renal salt... ORPHA:95409
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Nephrolithiasis, Hypokalemia OMIM:615474
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Nephrolithiasis, Hypocalcemia ORPHA:93160
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
East Syndrome
Renal sodium wasting, Hypokalemia, Enuresis, Hypomagnesemia, Abnormal urinary electrolyte concent... ORPHA:199343
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia OMIM:619073
Nail Disorder, Nonsyndromic Congenital, 3
Nephrolithiasis OMIM:151600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated uri... ORPHA:653
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Elevated urinary epinephrine, Nausea, Renal cell carcinoma, Hematuria, Glomerular ... ORPHA:29072
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficiency, Jaun... ORPHA:890
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital m... ORPHA:369837
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Renal cyst, Patent ductus arteriosus, Ureteral stenosis, Hypercalciuria OMIM:615398
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hemobilia, Hepatic necrosis, Hyperbilirub... ORPHA:88673
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Hypophosphatemic Rickets
Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Hypocalciuria, Renal phosph... ORPHA:437
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level, Renal salt wasting OMIM:610600
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine OMIM:171300
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Nephrocalcinosis, Hypocalcemia OMIM:179800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Nausea ORPHA:369929
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Vomiting, Renal salt wasting, Diarrhea OMIM:264350
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Renal salt wasting OMIM:614736
Hypophosphatasia
Hypercalcemia ORPHA:436
Fechtner syndrome
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Incr... OMIM:616278
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... OMIM:615862
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Tubuloin... ORPHA:79259
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Infectious encephalitis... ORPHA:36234
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... OMIM:613845
Refractory Celiac Disease
Inflammatory abnormality of the skin, Hypoproteinemia, Hypoalbuminemia, Elevated alkaline phospha... ORPHA:398063
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Hypocalcemia ORPHA:100025
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Lesch-Nyhan Syndrome
Dysphagia, Vomiting, Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria OMIM:300322
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Dysphagia, Renal Fanconi syndrome, Generalized aminoaciduria, Nephrol... OMIM:219800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Splenomegaly, Gastri... ORPHA:37042
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... OMIM:613090
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Hyperox... OMIM:167030
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... OMIM:602522
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... OMIM:174000
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Portal inflammation, Chronic hepatitis... ORPHA:101330
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen conte... ORPHA:369
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Vomiting, Increased circulating renin level ORPHA:556037
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Dysphagia, Focal segmental glome... ORPHA:63
Preeclampsia
Chronic kidney disease, Elevated circulating creatinine concentration, Acute kidney injury, Abnor... ORPHA:275555
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Vomiting, Abnormality of the urinary system, Myositis, Hematuria, Nephritis, ... ORPHA:93552
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Dysphagia, Myoglobinuria, Hypernatremia, Vomiting, Elevated circulati... ORPHA:94093
Colchicine Poisoning
Myocarditis, Hyponatremia, Hypokalemia, Vomiting, Nausea, Hypophosphatemia, Hypomagnesemia, Oligu... ORPHA:31824
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Zollinger-Ellison Syndrome
Hypercalcemia, Increased urinary cortisol level, Nausea, Esophagitis, Intestinal obstruction, Gas... ORPHA:913
Acute Liver Failure
Hepatocellular necrosis, Vomiting, Nausea, Hepatitis, Hepatic necrosis, Hyperammonemia, Gastroint... ORPHA:90062
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia, Fetal pyelectasis, Hematochezia ORPHA:96168
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Proximal renal tubular acidosis, Decreased urinary potassium, Renal s... ORPHA:427
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... OMIM:227810
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost... ORPHA:47
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Elevated gamma-glutamyltransferase level, Hyperalanin... OMIM:614582
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hashimoto thyroiditis, Decreased urinary potassium, Hy... ORPHA:85138
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine... OMIM:252160
Cystic Fibrosis
Hepatomegaly, Bronchiectasis, Chronic sinusitis, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Ste... OMIM:219700
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Vomiting, Increased circulating renin level ORPHA:556030
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Ppoma
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Intestinal obstruction, Ga... ORPHA:97278
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Vomiting, Methylmalonic aciduria, Dicarboxylic aci... ORPHA:289504
Mastocytosis
Hypercalcemia, Hepatomegaly, Splenomegaly, Gastrointestinal hemorrhage, Diarrhea ORPHA:98292
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Peri... ORPHA:534
Oncogenic Osteomalacia
Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting, Elevated circulating alkaline phosp... ORPHA:352540
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hepatitis, Hyperuricemia, Hashimoto thyroiditis, Diarrhea, Constipation ORPHA:199299
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypospadias, Microscopic nephrocalcinosis, Biliary tract obstruction, Gastritis, Recurrent pneumo... OMIM:219721
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... OMIM:603471
Fructose Intolerance, Hereditary
Hepatomegaly, Hyperphosphaturia, Vomiting, Nausea, Transient aminoaciduria, Proximal tubulopathy,... OMIM:229600
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Hepatic necrosis, Fulminant hepatitis, Nephriti... ORPHA:2442
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Somatostatinoma
Hypercalcemia, Hepatomegaly, Gallbladder dysfunction, Neoplasm of the pancreas, Intestinal obstru... ORPHA:97283
Primary Pigmented Nodular Adrenocortical Disease
Increased urinary cortisol level, Hyperlipidemia, Acne, Nephrolithiasis, Hepatic steatosis, Eleva... ORPHA:189439
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Hyperam... OMIM:255120
Dahlberg-Borer-Newcomer Syndrome
Renal insufficiency, Nephropathy, Hypocalcemia ORPHA:1563
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... ORPHA:94089
Congenital Hypothyroidism
Sinusitis, Nephrolithiasis, Intestinal obstruction, Prolonged neonatal jaundice, Constipation ORPHA:442
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Vomiting, Hyperbilirubinemia, Macrovesicular hepa... OMIM:613070
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Renal dysplasia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemi... OMIM:618183
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased urinary cortisol level, Hyperlipidemia, Renal cell carcinoma, Acne, Nephrolithiasis, He... ORPHA:189427
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hydronephrosis, Elevated circulating creatine kinase concentration, Renal tubular a... ORPHA:2785
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Myoglobinuria, Reduced carnitine O-palmitoyltransf... ORPHA:228305
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Elevated urinary delta-aminolevulinic acid, Hepatocellular ... OMIM:276700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Glucagonoma
Hypercalcemia, Hepatomegaly, Stomatitis, Neoplasm of the pancreas, Intestinal obstruction, Gastro... ORPHA:97280
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Sarcoidosis
Keratoconjunctivitis sicca, Hypercalcemia, Hepatomegaly, Tubulointerstitial nephritis, Nephrocalc... ORPHA:797
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Abnormal urine sodium concentra... ORPHA:320
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Hypokalemia OMIM:219090
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... OMIM:617156
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Urinary incontinence, Chronic constipation ORPHA:476126
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Hypocalcemia ORPHA:1438
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level OMIM:619406
Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Myoglobinuria, Abnormal urinary color, Elevat... ORPHA:98895
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Hemolytic-uremic syndrome, Intermittent diarrhea, Acute hepatic... OMIM:619644
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Hemochromatosis, Type 3
Increased serum iron, Elevated transferrin saturation, Arthritis, Cirrhosis, Increased circulatin... OMIM:604250
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Vomiting, Acut... ORPHA:173
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Vomiting, Increased urine alpha-ketoglutarate concentration, Hy... ORPHA:2394
Hereditary Hemorrhagic Telangiectasia
Hematuria, Cholelithiasis, Nephrolithiasis, Cirrhosis, Gastrointestinal hemorrhage, Hepatic failu... ORPHA:774
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Grfoma
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Intestinal obstruction, Ga... ORPHA:97261
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Aminoaciduria, Prote... OMIM:616026
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, E... OMIM:301045
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Absence of renal corticomedullary differentiation... OMIM:259720
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Vomiting, Methylmalonic acidu... OMIM:251000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Vomiting, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria... ORPHA:42
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tub... ORPHA:157
Sebocystomatosis
Nephrolithiasis ORPHA:841
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased urinary cortisol level, Insulinoma, Esophagitis, Abnormality of pancreas... ORPHA:276152
Vipoma
Hypercalcemia, Hepatomegaly, Hypokalemia, Neoplasm of the pancreas, Neoplasm of the liver, Extrah... ORPHA:97282
Leprechaunism
Hepatomegaly, Long penis, Hypokalemia, Nephrocalcinosis, Increased circulating renin level, Hyper... ORPHA:508
Hypophosphatemic Rickets, X-Linked Dominant
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Elevated circulating alkali... OMIM:307800
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Gastrointestinal hemorr... ORPHA:247598
Simple Cryoglobulinemia
Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hypercellularity, Gastrointesti... ORPHA:91139
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Renal salt wasting, Hepatic fibrosi... ORPHA:275761
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Hypoproteinemia, Hepatomegaly, Vomiting, Pneumonia, Elevate... ORPHA:26793
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Vomiting, Increased hepatic glycogen content, Abnormal circ... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating creatine kinase concentration, Hepatomegaly, Nephrotic syndrome, Elevated he... OMIM:617713
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Renal dysplasia, Nephritis, Pyelonephritis OMIM:314300
Timothy Syndrome
Pneumonia, Patent ductus arteriosus, Hypocalcemia OMIM:601005
Birk-Landau-Perez Syndrome
Hyperkalemia, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Hashim... OMIM:618549
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Conjug... OMIM:613404
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets OMIM:613312
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Nephritis, Renal cyst, Polycystic li... OMIM:208500
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Vomiting, Hepatic steatosis, Hyperglycinuria, E... OMIM:201450
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Congenital megaureter, Hepatoblastoma, Nephrolithiasis, Splen... ORPHA:116
Porphyria Variegata
Hyponatremia, Elevated urinary delta-aminolevulinic acid, Hepatocellular carcinoma, Nausea, Chron... ORPHA:79473
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Tub... ORPHA:228308
Pearson Syndrome
Lacticaciduria, Hypophosphatemia, Splenomegaly, Steatorrhea, Renal cyst, Chronic diarrhea, Hepati... ORPHA:699
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Elevated circulating creatine kinase concentration, Hyperglutaminemia, Dic... OMIM:619355
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hepatomegaly, Hydronephrosis, Splenomegaly, Micropenis, Pancreatic lymphangiecta... OMIM:235255
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Abnormality of mesentery morphology, Nephrolithiasis, Functiona... ORPHA:2953
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Nephrolithiasis, Splenomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, ... OMIM:608594
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Hyperammonemia, Decreased liver function, Elevated circulating sebacic acid conc... OMIM:615160
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Vomiting, Nausea, Hematemesis, Insulinoma, Neoplasm of the pancreas, Nephrolithias... ORPHA:652
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Insulinoma, Esophagitis, Pancreatic islet cell adenoma, Diarrhea OMIM:131100
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... OMIM:619111
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatomegaly, Hydronephrosis, Splenomegaly, Hepatosplenomegaly, Micropenis, Panc... ORPHA:1655
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Nephrolithiasis, Splenomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, ... OMIM:269700
Leukonychia Totalis
Blepharitis, Nephrolithiasis ORPHA:2387
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Elevated circulati... OMIM:613812
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Vomiting, Nausea, Hematuria, Gas... ORPHA:31826
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevate... ORPHA:370
Albers-Schönberg Osteopetrosis
Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Osteoarthritis ORPHA:53
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Po... ORPHA:2237
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulating alkaline phosph... OMIM:235555
Microsporidiosis
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abnormality of the urinary system physiology, Inf... ORPHA:2552
Relapsing Fever
Vomiting, Abnormality of the urinary system, Elevated circulating creatinine concentration, Hemat... ORPHA:91547
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... OMIM:616629
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Splenomegaly, Osteomyelitis, Increased circulating lactate dehydrogenase concentrat... OMIM:259700
Enamel-Renal Syndrome
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... ORPHA:1031
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Williams-Beuren Syndrome
Hypercalcemia, Renal hypoplasia, Urethral stenosis, Nephrocalcinosis, Pelvic kidney, Recurrent ot... OMIM:194050
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomegaly, Hepatosplenome... OMIM:301068
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Bloody diarrhea, Decreased urine output, Myocarditis, Vomiting, Nause... ORPHA:544482
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Nephrotic syndrome, Nephritis, Splenomegaly, Gastrointestinal hemorrhage, Malar rash OMIM:603909
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Increased urinary potassium, Hypokalemia, Nausea ORPHA:231580
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Hypokalemia, Xerostomia, Hypomagnesemia, Hypocalcemia, Diarrhea, Hematochezia OMIM:175500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Increased circulating... OMIM:616860
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Hypermagnesiuria ORPHA:34527
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Elevated alkaline phosphatase of bone origin, H... ORPHA:289157
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Vomiting, Gly... ORPHA:436271
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Renal dysplasia, Hypercalciuria, Patent ductus arteriosus, Nephrocalcinosis OMIM:300990
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated gamma-glutamyltransferase level, Chronic diarrhea, Conjugated hyper... OMIM:619484
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Vomiting, Hypokalemia, Abno... ORPHA:411629
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa... ORPHA:2137
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Glycosuria, Hyperlipidemia, Ketonuria ORPHA:2089
Gapo Syndrome
Nephrolithiasis ORPHA:2067
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Chronic kidney disease, Hyperbilirubinemia, Hyperammonemia, Abnormali... ORPHA:1667
Williams Syndrome
Chronic otitis media, Patent ductus arteriosus, Hypercalciuria, Abnormality of the bladder, Hyper... ORPHA:904
X-Linked Hypophosphatemia
Hypophosphatemia, Arthritis, Hypocalciuria, Renal phosphate wasting, Elevated circulating alkalin... ORPHA:89936
Visceral Steatosis, Congenital
Jaundice, Hepatic steatosis, Renal steatosis, Hypocalcemia OMIM:228100
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Micropenis, Patent ductus arteriosus, Hypocalcemia OMIM:607143
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Vomiting, Elevated circulating creatine kinase concentration, Hyperammonemia, Macro... OMIM:600649
Retinal Venous Beading
Nephritis OMIM:180080
Alkaptonuria
Arthritis, Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis OMIM:203500
Hypoplasminogenemia
Periodontitis, Decreased level of plasminogen, Cervicitis, Nephrolithiasis ORPHA:722
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Renal tubular acidosis, Hepatic failure, Elevated hepatic transaminase, Transient h... ORPHA:156
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Vomiting, Elevated circulating cr... ORPHA:264580
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... OMIM:613280
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Increased urinary potassium, Hypokalemia, Nausea ORPHA:231625
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Hypokal... ORPHA:358
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Elevated circulating alkaline phosphatase concentration ORPHA:249
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Vomiting, Nausea, Elevated circulating creatine kinase concentration, Decreased liv... ORPHA:466650
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Vomiting, Recurrent urinary tract infections, Renal salt wasting, Dia... ORPHA:361
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Renal insufficiency OMIM:259900
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Increased hep... OMIM:220110
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creati... OMIM:614376
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Irido... OMIM:181000
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Cholestatic liver disease... ORPHA:65682
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Hepatic fibrosis, Decreased serum zinc, Esophagitis, Duplicated collecting system... ORPHA:541423
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Hepatoblastoma, Nephrolithiasis, Enlarged k... OMIM:130650
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Vomiting, Elevated circu... ORPHA:79240
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Mirizzi Syndrome
Gallbladder perforation, Vomiting, Nausea, Cholelithiasis, Hyperbilirubinemia, Pancreatitis, Chol... ORPHA:521219
Alkaptonuria
Prostatitis, Arthritis, Nephrolithiasis, Aminoaciduria, Osteoarthritis ORPHA:56
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Diarrhea, Elevated hepatic transaminase, Elevated circulating C-reac... ORPHA:54251
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Celiac Disease, Susceptibility To, 1
Eczema, Vomiting, Stomatitis, Thyroiditis, Steatorrhea, Hypocalcemia, Elevated hepatic transamina... OMIM:212750
Osteogenesis Imperfecta, Type X
Nephrolithiasis OMIM:613848
Gracile Bone Dysplasia
Micropenis, Hypoplastic spleen, Asplenia, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Elevated circulating creatinine concentratio... ORPHA:93126
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Erythroderma, Infectious encephalitis, Abnormal renal physiology, Cholestatic liver... ORPHA:540
Zimmermann-Laband Syndrome 1
Hepatomegaly, Long penis, Nephrolithiasis, Patent ductus arteriosus, Splenomegaly OMIM:135500
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentratio... ORPHA:2298
Sanjad-Sakati Syndrome
Intestinal obstruction, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Tubulointerstitial neph... OMIM:218330
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria OMIM:615605
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia, Chronic diarrhea, Hypocalcemia, Peritoneal effu... ORPHA:90362
Adrenal Hypoplasia, Congenital
Renal salt wasting, Hyponatremia OMIM:300200
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Melena, Hypersplenism... ORPHA:480520
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Nephrolithiasis ORPHA:521445
Schwartz-Jampel Syndrome
Abnormality of the ureter, Elevated circulating creatine kinase concentration, Abnormality of the... ORPHA:800
Listeriosis
Myocarditis, Septic arthritis, Diarrhea, Conjunctivitis, Jaundice, Liver abscess, Pericarditis, I... ORPHA:533
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Abnormality of endocrine pancreas physiology, Glomerulopathy, Renal agenesis, Horses... ORPHA:93111
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... ORPHA:400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Diarrhea, Hepatocellular necrosis OMIM:618278
Zygomycosis
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointestinal hemorrhage, Dia... ORPHA:73263
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Increased circulating surfactant protein level, Bronchiectasis, Hematuria, Calcium ... ORPHA:60025
Igg4-Related Pachymeningitis
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Pancreatitis, Parotitis, Elevated circulating C-r... ORPHA:449427
Avian Influenza
Infectious encephalitis, Vomiting, Pneumonia, Elevated circulating creatine kinase concentration,... ORPHA:454836
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypocalcemia ORPHA:746
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulatin... ORPHA:159
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Igg4-Related Thyroid Disease
Dysphagia, Retroperitoneal fibrosis, Thyroiditis, Hypocalcemia, Hashimoto thyroiditis, Pancreatic... ORPHA:64744
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Hypospadias, Vomiting, Penoscrotal hypospadias, Renal salt wasting, I... ORPHA:90791
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:99901
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... ORPHA:79444
Legius Syndrome
Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis ORPHA:137605
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Vomiting, Increased hepatic glycogen content, Elevated circulating ... OMIM:614921
Osteogenesis Imperfecta
Dysphagia, Nephrolithiasis, Intestinal obstruction, Hypercalciuria, Osteoarthritis, Constipation ORPHA:666
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Vomiting, Bile duct proliferation, Cirrhosis, H... OMIM:613658
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Arthritis, Proteinuria,... ORPHA:2614
Hepatoportal Sclerosis
Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver, Abnormal... ORPHA:64743
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Mccune-Albright Syndrome
Hyperphosphaturia, Renal tubular dysfunction, Hepatitis, Hypophosphatemia, Pancreatitis, Hepatoce... ORPHA:562
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Hypocalcemic tetany, Pneumonia, Chronic otitis media, Chronic o... ORPHA:83471
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Patent ductus arteriosus, Vesicoure... ORPHA:391641
Schinzel-Giedion Syndrome
Hypospadias, Dysphagia, Abnormality of the ureter, Hydronephrosis, Annular pancreas, Renal cyst, ... ORPHA:798
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Long penis, Acne, Renal salt wasting, Increased u... ORPHA:90795
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Sotos Syndrome
Hypospadias, Hypercalcemia, Ureteral duplication, Hydronephrosis, Renal agenesis, Congenital post... ORPHA:821
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Patent ductus arteriosus, Absent gallbladder, Hypocalcemia OMIM:300712
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dysphagia, Hydronephrosis, Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis, Vesic... ORPHA:438213
Hand-Foot-Genital Syndrome
Hypospadias, Chordee, Pyelonephritis, Micropenis, Ureteropelvic junction obstruction, Vesicourete... OMIM:140000
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Vomiting, Midshaft hy... ORPHA:168558
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Hyperbilirubinemia, Patent ductus arteriosus, Absent gallbladder, Mi... ORPHA:163979
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Vomiting, Midshaft hy... ORPHA:289548
Adrenocortical Hypofunction, Chronic Primary Congenital
Hypernatriuria OMIM:103230
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Budd-Chiari Syndrome
Hepatomegaly, Peritonitis, Splenomegaly, Cirrhosis, Intestinal obstruction, Acute hepatic failure... ORPHA:131
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephrit... OMIM:619351
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... ORPHA:79443
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Hydronephrosis, Pneumonia, Abnormality of the urinary system, Nephrolithiasis, Paten... ORPHA:353281
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, ... ORPHA:289176
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Urinary retention, Mildly elevated creatine kinase, Decreased... ORPHA:79102
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuri... ORPHA:183
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Decreased liver func... OMIM:124000
Sjogren Syndrome
Xerostomia, Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Hypercholesterolemia... OMIM:300972
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Patent ductus arteriosus, Recurrent urinary trac... ORPHA:33001
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Horseshoe kidney, Hypophosphatemic rickets OMIM:163200
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Mucopolysacchariduria, Hypocalcemia ORPHA:175
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... ORPHA:488627
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Hydronephrosis, Pneumonia, Abnormality of the urinary system, Nephrolithiasis, Paten... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Hydronephrosis, Pneumonia, Abnormality of the urinary system, Nephrolithiasis, Paten... ORPHA:353284
Gaisböck Syndrome
Hyperproteinemia, Nephrocalcinosis, Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridem... ORPHA:90041
Alagille Syndrome 1
Renal hypoplasia, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Elevated hepatic ... OMIM:118450
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Chronic otitis media, Seborrheic dermatitis, Acne, Cholelithiasis,... ORPHA:567
Hennekam Syndrome
Horseshoe kidney, Splenomegaly, Hypocalcemia, Ectopic kidney, Erysipelas ORPHA:2136
Digeorge Syndrome
Hydronephrosis, Seborrheic dermatitis, Renal dysplasia, Acne, Cholelithiasis, Patent ductus arter... OMIM:188400
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Renal agenesis, Pyelonephritis OMIM:181270
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p... ORPHA:91500
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Chronic rhinitis, Hypophosphatemia, Splenomegaly, Otitis media, Hypocalcemia ORPHA:667
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Vomiting, Nausea, Elevated circulating creatine ki... ORPHA:90068
Lead Poisoning
Decreased HDL cholesterol concentration, Renal tubular dysfunction, Tubulointerstitial nephritis,... ORPHA:330015
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Pyelonephritis, Duplication of renal pelvis, Recurrent urinary tract infect... ORPHA:2036
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent urinary tract infections, Urethral diverticulum, Multiple bladder diver... ORPHA:90349
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Gastrointestinal hemorrhage, Steatorr... OMIM:613471
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Elevated urinary epinephrine, Vomiting, Long penis, Hypochloremia, Ac... ORPHA:90794
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Hyperphosphaturia, Elevated maternal serum alpha-fetoprotein, Proximal re... OMIM:309000
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Mi... OMIM:243800
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227990
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227982
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Dysphagia, Urinary urgency, Chronic otitis media, Pelvic kidney, Recurrent oti... OMIM:619503