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
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... 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
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:300555
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary n... OMIM:143880
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting OMIM:239199
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Nephrocalcinosis, Blue urine, Hyperphosph... ORPHA:94086
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Increased... OMIM:260005
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... ORPHA:284426
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Decreased mucosal sucrase-isomaltase activity, Nephrolithiasis OMIM:222900
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis OMIM:145980
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Hyperparathyroidism 4
Nephrolithiasis, Hypercalcemia OMIM:617343
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, Increased circulating beta-C-ter... ORPHA:157215
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular acidosis OMIM:602722
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arteriosus ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar... OMIM:227810
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurr... OMIM:145001
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Hypourice... ORPHA:3467
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
2P21 Microdeletion Syndrome
Nephrolithiasis, Hypocalcemia, Cystinuria ORPHA:163693
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Hypersulfaturia
Increased urinary sulfate, Nephrolithiasis OMIM:620372
Cystathioninuria
Cystathioninemia, Cystathioninuria, Nephrolithiasis ORPHA:212
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Diarrhea, Nephrolithiasis, Hematuria, Vomiting, Hypernatremia ORPHA:35710
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... OMIM:239200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia OMIM:614732
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... OMIM:602114
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... ORPHA:976
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... OMIM:278300
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia, Neoplasm of the liver ORPHA:69077
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Low a... OMIM:241500
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... OMIM:277900
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Necrotizing enterocolitis, Dicarboxylic aciduria, Hepatomegaly, Elevated circu... OMIM:201475
Genetic Recurrent Myoglobinuria
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria... ORPHA:99845
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... OMIM:231530
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level OMIM:613677
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... ORPHA:3337
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Adamantinoma
Hypercalcemia ORPHA:55881
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... OMIM:601678
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria,... OMIM:618440
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephroc... ORPHA:18
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Elevated circulating alkaline... OMIM:156400
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Increased phosphoribosylpyro... ORPHA:411543
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystine crystalluria, Hypocalcemia, Cystinuria OMIM:606407
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevate... OMIM:614034
Azoospermia, Obstructive, With Nephrolithiasis
Nephrolithiasis OMIM:301060
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli... ORPHA:47159
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... OMIM:617671
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hy... ORPHA:36913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia OMIM:612089
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, ... OMIM:232200
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ... ORPHA:99880
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Nausea ORPHA:251274
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypoplasia of penis, Hypospadias, Nephrolithiasis ORPHA:1816
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Elevated circulating ... OMIM:239000
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin... OMIM:137920
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ... ORPHA:143
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ... ORPHA:416
Autosomal Dominant Hypocalcemia
Eczema, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hyperm... ORPHA:428
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Diarrhea, Nephrolithiasis, Dysphagia, Nausea ORPHA:352447
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormality of the kidney ORPHA:2591
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H... OMIM:252150
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype... OMIM:232220
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci... OMIM:612780
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... ORPHA:411634
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Vomiting, Increased circulating renin level OMIM:203400
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Ulna Metaphyseal Dysplasia Syndrome
Nephrolithiasis ORPHA:1837
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Carcinoid Syndrome
Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration, Hepatic necrosi... ORPHA:100093
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Hypercalcemia OMIM:602080
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia ORPHA:97289
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Chronic diarrhea, Hypercalciuri... OMIM:557000
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Nephrolithia... OMIM:617321
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... ORPHA:85450
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Nephro... OMIM:616026
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Renal phosphate wasting, Elevated circulating alkaline phosphatase conc... OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Hyperphosphaturia, Hypocalcemia, Hypopho... ORPHA:89937
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis ORPHA:182050
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo... OMIM:263800
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... ORPHA:95409
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithiasis OMIM:619365
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... ORPHA:199343
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:230400
Flotch Syndrome
Inflammatory abnormality of the eye, Nephrolithiasis, Blepharitis ORPHA:2045
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased total bilir... ORPHA:890
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Low al... ORPHA:369837
Vitamin D-Dependent Rickets, Type 3
Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia OMIM:619073
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Hypocalcemia, Hypophosphatemia ORPHA:93160
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Diarr... ORPHA:653
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:610600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Vomiting OMIM:264350
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis ORPHA:3327
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Vomiting, Hepati... OMIM:614480
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Hypophosphatasia
Hypercalcemia ORPHA:436
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Hypocalcemia ORPHA:100025
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Nephrolithiasis OMIM:620023
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Monosomy 13Q34
Hematochezia, Fetal pyelectasis, Hepatic steatosis, Hypercalcemia ORPHA:96168
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nephrolithiasis OMIM:619827
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... ORPHA:79259
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis OMIM:248000
Refractory Celiac Disease
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... ORPHA:398063
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Vomiting, Hyperuricemia, Dysphagia, Podagra OMIM:300322
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... ORPHA:37042
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Nephrolithiasis, Nausea ORPHA:369929
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... ORPHA:369
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... ORPHA:79303
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Diarrhea, Hyperkalemia, Hepatitis, Constipation, Hyperuricemia, Hash... ORPHA:199299
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Diarrhea, ... ORPHA:93552
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... ORPHA:275555
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers... OMIM:615862
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... OMIM:613070
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting ORPHA:556037
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Rec... ORPHA:101330
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Hepatic steatosis OMIM:620357
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... ORPHA:94093
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Recurrent pneumonia, Hypercalciuria, Biliary cirrh... OMIM:219700
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Diarrhea, Abnormal blood ion concentration, Oligu... ORPHA:31824
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Peri... ORPHA:534
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... ORPHA:427
Addison Disease
Hyponatremia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyperkale... ORPHA:85138
Molybdenum Cofactor Deficiency, Complementation Group B
Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite... OMIM:252160
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Diarrhea, Jaundice, Hepati... ORPHA:90062
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Elevated h... OMIM:229600
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Chronic diarrhea, Rec... ORPHA:47
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... OMIM:616299
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalce... ORPHA:913
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting, Elevated circulating alkaline phosphatase concentrati... ORPHA:352540
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... OMIM:203800
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting ORPHA:556030
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Elevated circulating alk... OMIM:613312
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... ORPHA:97278
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Sarcoidosis
Hepatomegaly, Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Portal hypertension, E... ORPHA:797
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Chronic constipation, Urinary incontinence, Hypercalcemia ORPHA:476126
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH admi... OMIM:612462
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Nephrolithiasis OMIM:219090
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... ORPHA:97283
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Cholera
Hyponatremia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentration, Hypokal... ORPHA:173
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230
Intermediate Osteopetrosis
Elevated circulating alkaline phosphatase concentration, Osteomyelitis, Hypocalcemia, Hepatosplen... ORPHA:210110
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Hyperlipidemia, Nephrolithiasis, Renal cell carcinoma, He... ORPHA:189427
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting OMIM:619406
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E... ORPHA:2394
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirr... ORPHA:774
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Skin... ORPHA:97280
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... ORPHA:2785
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic... OMIM:617303
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... OMIM:617913
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Vomiting, ... ORPHA:470
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting OMIM:614736
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circu... ORPHA:26793
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Hyperuricemia, Uric acid n... OMIM:300661
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... ORPHA:97261
Becker Muscular Dystrophy
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati... ORPHA:98895
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Osteoarthritis, Renal tubular dysfunction, Renal phos... OMIM:307800
Leprechaunism
Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased circulating re... ORPHA:508
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Sebocystomatosis
Nephrolithiasis ORPHA:841
Porphyria Variegata
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... ORPHA:79473
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Secretory diarrh... ORPHA:97282
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Hypercalcemia, Diarrhea, Insulinoma, Extrahepatic cholestasis, ... ORPHA:276152
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... OMIM:208500
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Secretory diarrhea, Hematochezia, Hypoalbuminemia, ... OMIM:618183
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Elevated circulating alkaline phosphatase concentration, Hypocalcemia,... OMIM:264700
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... OMIM:276700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Marcus-Gunn Syndrome
Nephrolithiasis ORPHA:91412
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Musculocontractural Ehlers-Danlos Syndrome
Recurrent skin infections, Abnormal mesentery morphology, Functional abnormality of the bladder, ... ORPHA:2953
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Hepatoblastoma, Elevated circulating alpha-fetoprotein concen... ORPHA:116
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... OMIM:619355
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Chronic diar... ORPHA:699
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Vesicoureteral reflux, Bla... OMIM:301068
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Hematemesis, Diarrhea, Insulinoma, Nephrolithiasis, Hype... ORPHA:652
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Hypercalcemia, Diarrhea, Insulinoma, Esophagitis OMIM:131100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Hepatosplenom... ORPHA:1655
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... OMIM:602347
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, Hepatic failur... OMIM:235255
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Mucopolysaccharidosis, Type X
Nephrolithiasis, Dermatan sulfate excretion in urine OMIM:619698
Relapsing Fever
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Diarrhea, J... ORPHA:91547
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Vomiting, Abnormality... ORPHA:2552
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Portal hypertension, Abno... OMIM:194050
Albers-Schönberg Osteopetrosis
Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arthritis, Hypocalcemia ORPHA:53
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urinary cyclic AMP response to P... ORPHA:94089
Leukonychia Totalis
Blepharitis, Nephrolithiasis ORPHA:2387
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Nausea, Hyperkalemia, Renal tubular epithelial necrosis, Renal tu... ORPHA:31826
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Osteomyelitis, Splenomegaly, Elevated circulating alkaline phosphatase concentratio... OMIM:259700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Tyrosinemia, Type Iii
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... OMIM:276710
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level ORPHA:231580
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hypocal... ORPHA:2237
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia OMIM:175500
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami... ORPHA:1667
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... OMIM:251000
Alkaptonuria
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate OMIM:203500
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Cystic Fibrosis
Elevated hepatic transaminase, Sinusitis, Meconium ileus, Nephrolithiasis, Bronchiectasis, Abnorm... ORPHA:586
X-Linked Hypophosphatemia
Enthesitis, Renal phosphate wasting, Arthritis, Elevated circulating alkaline phosphatase concent... ORPHA:89936
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... OMIM:208085
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:620138
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... ORPHA:411629
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... ORPHA:139402
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Pneumonia, Nausea, Pancreatitis, Diarrhea, Myocarditis, Hyperkalemia, Oligu... ORPHA:544482
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Ketonuria, Glycosuria ORPHA:2089
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Generalized aminoaciduria, Hypocalcemia, Hypophosph... ORPHA:289157
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... OMIM:616629
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Nausea, Increased urinary potassium, Decreased circulating renin level ORPHA:231625
Fibrous Dysplasia Of Bone
Elevated circulating alkaline phosphatase concentration, Hypercalcemia, Hypophosphatemia ORPHA:249
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Patent ductus arteriosus, Renal dysplasia OMIM:300990
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Eczema, Diarrhea, Thyroiditis, Vomiting, Recurrent aphthous stomat... OMIM:212750
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta... OMIM:614376
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Diarrhea, Hyperkalemia, Hyp... ORPHA:361
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Gapo Syndrome
Nephrolithiasis ORPHA:2067
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Periodontitis, Nephrolithiasis ORPHA:722
Gracile Bone Dysplasia
Asplenia, Micropenis, Hypoplastic spleen, Hypocalcemia OMIM:602361
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic i... OMIM:619991
Timothy Syndrome
Pneumonia, Patent ductus arteriosus, Hypocalcemia OMIM:601005
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Bronchiectasis... ORPHA:60025
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Diarrhe... ORPHA:358
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia OMIM:600081
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Vo... ORPHA:466650
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... OMIM:617595
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Dec... ORPHA:541423
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... ORPHA:30391
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Iridocyclitis, Hypercalciuria, Uveitis, Bronchiectasis, Arthritis, In... OMIM:181000
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Cirrhosis, Hepatic necrosis OMIM:127550
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Neph... OMIM:130650
Adrenal Hypoplasia, Congenital
Hyponatremia, Renal salt wasting OMIM:300200
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Gallbladder perforation, Eleva... ORPHA:521219
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Chronic diarrhea, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoprotein... ORPHA:90362
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... OMIM:617156
Alkaptonuria
Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis ORPHA:56
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... OMIM:218330
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Elevated circulating C-r... ORPHA:54251
Insulin-Resistance Syndrome Type B
Proteinuria, Pneumonia, Skin rash, Abnormal circulating fatty-acid concentration, Osteoarthritis,... ORPHA:2298
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatocellular necrosis, Hepatosplenome... OMIM:618278
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Infectious encephalitis, Nep... ORPHA:73263
Listeriosis
Liver abscess, Vomiting, Cholecystitis, Conjunctivitis, Infectious encephalitis, Nausea, Pyelonep... ORPHA:533
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Intestinal obstruction ORPHA:2323
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Abnormality of the ureter, Nephrolithiasis, A... ORPHA:800
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Patent ductus arteriosus, Recurrent pneumonia, Hypocalcemia, Micropenis OMIM:607143
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney ORPHA:521445
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Nephrolithiasis OMIM:613848
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, V... ORPHA:90791
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting, Nausea, Decre... ORPHA:340
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas... OMIM:613658
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Hypocalcemia, Cholestasis ORPHA:746
Zimmermann-Laband Syndrome 1
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolithiasis, Gastroesophage... OMIM:135500
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urinary cyclic AMP response to P... ORPHA:79444
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dysphagia, Nephr... ORPHA:449427
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:103580
Osteogenesis Imperfecta
Intestinal obstruction, Osteoarthritis, Hypercalciuria, Nephrolithiasis, Constipation, Dysphagia ORPHA:666
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis, Hypocalcemia,... ORPHA:64744
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Diarrh... ORPHA:83471
Mccune-Albright Syndrome
Hyperphosphaturia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate wasting, Renal... ORPHA:562
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Acne, Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level... ORPHA:90795
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses... ORPHA:391641
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting OMIM:613743
Schinzel-Giedion Syndrome
Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micrope... ORPHA:798
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Elevated alkaline phos... ORPHA:289176
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis, Gastroesophageal reflux, Constip... ORPHA:438213
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:168558
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Patent ductus arteriosus, Hypocalcemia, Hydronephrosis OMIM:300712
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Pneumonia, Patent ductus arteriosus, Nephrolithi... ORPHA:353281
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... ORPHA:289548
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal megacystis, Rena... OMIM:619351
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Patent ductus arteriosus, Hypocalcemia, Hyperbilirubinemia, Micr... ORPHA:163979
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urinary cyclic AMP response to P... ORPHA:79443
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Hepatic failure OMIM:259720
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Myositis, Sinusitis, In... ORPHA:183
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E... ORPHA:171
Legius Syndrome
Nephroblastoma, Male urethral meatus stenosis, Nephrolithiasis ORPHA:137605
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... ORPHA:33001
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Inc... ORPHA:90041
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Patent duc... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Patent duc... ORPHA:353277
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,... ORPHA:488627
Cartilage-Hair Hypoplasia
Hepatomegaly, Mucopolysacchariduria, Hypocalcemia, Abnormality of the pancreas ORPHA:175
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Acne, Bowel incontinence, Seborrheic dermatitis, Spleno... ORPHA:567
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L... OMIM:124000
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Horseshoe kidney, Hypocalcemia, Erysipelas ORPHA:2136
Lead Poisoning
Decreased HDL cholesterol concentration, Skin rash, Chronic kidney disease, Increased LDL cholest... ORPHA:330015
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, Hypocalcemia ORPHA:2306
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Spl... OMIM:188400
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Increased circulating lactate dehydrogenase concentration... OMIM:309000
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... ORPHA:91500
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Increas... OMIM:243800
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Hypocalcemia, Otitis media, Hypophosphatemia, Chronic rhinitis ORPHA:667
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Bloody diarr... ORPHA:90068
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Acne, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine le... ORPHA:90794
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Biliary cirrhosis, Chronic mucocutaneou... ORPHA:227990
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M... ORPHA:90349
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Portal hypertension, Atopic dermatitis, Dysphagia, Hepatosplenomegaly,... OMIM:619503
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Xerostomia, Hepatitis, Biliary cirrhosis, Chronic mucocutaneou... ORPHA:227982
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis OMIM:181270
Primary Sjögren Syndrome
Renal insufficiency, Chronic active hepatitis, Myositis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Eczema, Recurrent pneumonia, Constipation, Hypocalcemia, Hydronephrosis OMIM:620330
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Vomiting ORPHA:90348
Charge Syndrome
Renal agenesis, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Dysph... OMIM:214800
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Generalized Arterial Calcification Of Infancy