Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
methylmalonyl-Coenzyme A mutase
Synonyms:
D230010K02Rik,  Mut

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 Mmut 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 Mmut by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Metabolic ketoacidosis, Hyperammonemia, Failure to thriv... OMIM:251000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hyperammonemia, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Failure to thrive, Renal insufficiency ORPHA:79312

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Metabolic acidosis, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating crea... OMIM:614723
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Growth delay, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinuria OMIM:238750
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Hypoargininemia ORPHA:147
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Decreased serum bicarbonate concentration, Hypocitraturia, Decr... ORPHA:18
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Saccharopinuria
Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Short stature, Hyperammo... ORPHA:3124
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Metabolic acidosis, Hypokalemia, Hypercalciuria, Growth delay, Failure to thrive, Nephrocalcinosi... OMIM:602722
Renal Hypoplasia, Bilateral
Hyperkalemia, Metabolic acidosis, Decreased glomerular filtration rate, Vesicoureteral reflux, Be... ORPHA:97362
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... OMIM:601678
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia, Organic aciduria, Failure to thrive i... ORPHA:6
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Renal Tubular Acidosis, Proximal
Hypercalciuria, Hyperchloremic acidosis, Short stature, Proximal renal tubular acidosis, Elevated... OMIM:179830
Argininemia
Hyperammonemia, Diaminoaciduria ORPHA:90
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Lactic acidosis, Elevated serum anion gap, Elevated circulating crea... OMIM:618120
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Elevated ci... OMIM:614817
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Metabolic acidosis, Elevated circulating suberic acid concentration, Increased serum pyruvate, Hy... OMIM:615160
Alpha-Methylacetoacetic Aciduria
Dehydration, Episodic ketoacidosis, Elevated urinary 2-methyl-3-hydroxybutyric acid level OMIM:203750
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Lactic acidosis, Metabolic acidosis, Elevated urine acetoacetic acid level, 3-hydroxyi... OMIM:615751
Fanconi-Bickel Syndrome
Postnatal growth retardation, Increased serum bile acid concentration, Generalized aminoaciduria,... OMIM:227810
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, Renal potass... OMIM:241200
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Pyruvate Dehydrogenase E3 Deficiency
Lactic acidosis, Decreased circulating carnitine concentration, Hyperisoleucinemia, Increased cir... ORPHA:2394
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Lactic acidosis, Elevated lactate:pyruvate ratio, Episodic ketoacidosis, Metabolic ketoacidosis, ... OMIM:615453
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Decreased body weight, Hyperleucinemia, Increased blood urea ... OMIM:620085
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia OMIM:239199
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Metabolic acidosis, Generalized aminoaciduria, Renal tubular acidosis, Hype... ORPHA:2088
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Increased circulating lactate concentration, Increas... OMIM:613845
Oxoglutaric Aciduria
Short stature, Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentrati... ORPHA:31
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:614582
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Dehydration, Ketoacidosis OMIM:614265
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Failure to thrive, Renal insufficiency ORPHA:28
Developmental And Epileptic Encephalopathy 82
Short stature, Hyperammonemia, Decreased body weight, Increased circulating lactate concentration OMIM:618721
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Lactic acidosis, Hyperalaninemia, Increased circulating lactate conc... OMIM:614739
Nephronophthisis 18
Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub... OMIM:615862
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Met... ORPHA:199343
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
3-Hydroxyisobutyric Aciduria
Lactic acidosis, Episodic ketoacidosis, Failure to thrive, Aminoaciduria, Ketoacidosis OMIM:236795
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia, Lactic acidosis OMIM:614111
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Argininosuccinic Aciduria
Oroticaciduria, Short stature, Hyperammonemia, Hyperglutaminemia, Aminoaciduria, Hypoargininemia ORPHA:23
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Hypospadias, Hypercalciuria, Hypercalcemia, Intrauterine growth ret... OMIM:614732
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Metabolic acidosis, Decreased circulating carnitine concentration, Hyperglycinuria, Organic acidu... OMIM:210210
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Combined Oxidative Phosphorylation Deficiency 10
Lactic acidosis, Metabolic acidosis, Hyperalaninemia, Increased circulating lactate concentration... OMIM:614702
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Propionic Acidemia
Hyperammonemia, Organic aciduria ORPHA:35
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Hyperaldosteronism, Familial, Type Iii
Polyuria, Metabolic acidosis, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hyp... OMIM:613677
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration... OMIM:614376
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Metabolic acidosis, Recurrent urinar... ORPHA:93598
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Decreased liver function, Metabolic acidosis, Myoglobinuria, Dehydration, Neonatal death OMIM:602199
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature, Acidosis OMIM:204730
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Decreased glomerular filtration rate, Tubuloint... ORPHA:85450
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc... ORPHA:157215
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Failure to ... OMIM:614480
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration ORPHA:35878
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Propionic Acidemia
Increased level of hippuric acid in urine, Metabolic acidosis, Lactic acidosis, Hyperglycinuria, ... OMIM:606054
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka... ORPHA:89938
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Aminoaciduria ORPHA:664
Saccharopinuria
Elevated circulating saccharopine concentration, Histidinuria, Short stature, Elevated urinary sa... OMIM:268700
Combined Oxidative Phosphorylation Deficiency 34
Lactic acidosis, Increased circulating lactate concentration, Increased blood urea nitrogen, Fail... OMIM:617872
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Elevated urine 3-hydroxypropionic acid level, Hepato... OMIM:251100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Obesity, Stage 5 chronic kidney disease, Tubuloi... OMIM:616629
Gitelman Syndrome
Delayed puberty, Polyuria, Hypokalemic alkalosis, Hypokalemia, Hypocalciuria, Renal potassium was... OMIM:263800
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia OMIM:612286
Isobutyryl-Coa Dehydrogenase Deficiency
Pulmonic stenosis, Dilated cardiomyopathy, Dicarboxylic aciduria, Dehydration ORPHA:79159
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Dehydration, Acid... ORPHA:289504
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Gracile Syndrome
Chronic lactic acidosis, Increased serum pyruvate, Increased circulating iron concentration, Intr... OMIM:603358
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Metabolic acidosis, Growth delay, Short stature, Glycosuria, Hy... OMIM:615605
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lactic acidosis, Metabolic acidosis, Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulm... OMIM:619003
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Growth delay, Failure to thriv... OMIM:241530
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Failure to thrive, Episodic metabolic acidosis, 3-hydroxyisovaleric aciduri... OMIM:210200
Developmental And Epileptic Encephalopathy 30
Death in infancy, Motor stereotypy, Respiratory distress OMIM:616341
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Lactic acidosis, Decreased circulating carnitine concentration, Myoglobinu... ORPHA:71212
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Metabolic ketoacidosis, Hyperammonemia, Failure to thriv... OMIM:251000
Holocarboxylase Synthetase Deficiency
Growth delay, Hyperammonemia, Organic aciduria, Weight loss ORPHA:79242
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated creatine kinase af... ORPHA:159
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Failure to thrive OMIM:606762
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Lactic acidosis, Elevated circulating creatine kinase concentration, Increased ci... OMIM:618416
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Failure to thrive, Hyperornithinemia, Homocitrullinuria OMIM:238970
Isovaleric Acidemia
Cerebellar hemorrhage, Metabolic acidosis, Hyperglycinuria, Dehydration, Elevated urinary isovale... OMIM:243500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Lactic acidosis, Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Severe lactic ac... OMIM:612075
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hypercalciuria, Hyperphosphaturia, Failure to thrive, Hypercalcemia, Hypoph... OMIM:239200
Fumarase Deficiency
Decreased fumarate hydratase activity, Bilateral fetal pyelectasis, Intrahepatic cholestasis, Nec... OMIM:606812
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Cachexia, Elevated circulating creatine kinase concentration, Hyperammonem... ORPHA:42
Pyruvate Dehydrogenase Phosphatase Deficiency
Lactic acidosis, Hyperalaninemia, Increased circulating lactate concentration, Hyperprolinemia, L... ORPHA:79246
Lactase Deficiency, Congenital
Metabolic acidosis, Dehydration OMIM:223000
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hy... OMIM:603471
Hyperinsulinemic Hypoglycemia, Familial, 8
Growth delay, Hyperammonemia, Increased C-peptide level, Short stature, Hypercholesterolemia OMIM:620211
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglycinemia, Lactic acidosis, Oroticaciduria, Hyperglutamatemia, Hyperalaninemia, Increased c... OMIM:620358
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Failure to thrive, Methylmalonic acidu... OMIM:251110
Hyperprolinemia, Type Ii
Prolinuria, Hyperglycinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Autosomal Dominant Hypocalcemia
Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Acute kidney... OMIM:277400
Diarrhea 4, Malabsorptive, Congenital
Hyperchloremic metabolic acidosis, Dehydration OMIM:610370
Combined Oxidative Phosphorylation Deficiency 5
Abnormal renal tubule morphology, Lactic acidosis, Metabolic acidosis, Increased circulating lact... OMIM:611719
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine deoxypyridinoline level, Short ... OMIM:239000
Colchicine Poisoning
Abnormal blood ion concentration, Lactic acidosis, Metabolic acidosis, Abnormality of acid-base h... ORPHA:31824
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Renal tubular acidosis, Transient hyperlipidemia, Elevated circulating cre... OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 33
Lactic acidosis, Metabolic acidosis, Hypospadias, Increased circulating lactate concentration, Hy... OMIM:618253
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Failure to thrive, Episodic ammonia intoxication, Hyperammonemia, Respiratory alkalosis, Low plas... OMIM:237300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Weight loss, Abnormal renal tubule morphology ORPHA:188
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Metabolic acidosis, Increased circulating lactate concentration OMIM:615158
Familial Renal Glucosuria
Recurrent urinary tract infections, Dehydration, Glycosuria, Nephropathy, Renal tubular dysfunction ORPHA:69076
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Hypercalciuria, Elevated plasma pyrophosphate, Elevate... OMIM:241500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hyperammonemia, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Renal insufficiency, Elevated circulating alanine aminotransferase concentration, D... OMIM:619386
Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic aciduria, Metabolic acidosis, Ketonuria, Dehydration OMIM:251120
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hyperammonemia, Metabolic acidosis, Increased circulating lactate concentration OMIM:620137
Combined Oxidative Phosphorylation Deficiency 4
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Hyperammonemia,... OMIM:610678
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, Metabolic acidosis, Hyperuricemia, ... OMIM:246450
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Thyroi... ORPHA:139402
Galactose Epimerase Deficiency
Growth delay, Aminoaciduria, Weight loss ORPHA:79238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Failure to thrive, Renal insufficiency ORPHA:79312
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Reduced tissue carnitine O-palmitoyltransferase 2 activity, My... ORPHA:228302
Enteric Anendocrinosis
Cholestatic liver disease, Hyperchloremic metabolic acidosis, Dehydration, Portal hypertension ORPHA:83620
Mitochondrial Trifunctional Protein Deficiency 1
Lactic acidosis, Myoglobinuria, Elevated circulating creatine kinase concentration, Failure to th... OMIM:609015
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:619048
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating corticosterone level, Increased circulati... OMIM:610600
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Lactic acidosis, Decreased circulating carnitine concentration, Increased ... ORPHA:99901
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Short stature, Elevated circulating creatine kinase concentration, Increased circulating lactate ... OMIM:616209
Primary Hyperoxaluria
Hematuria, Aciduria, Metabolic acidosis, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperox... ORPHA:416
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Elevated circulating creati... OMIM:212140
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Lactic acidosis, Hyperalaninemia, Short stature, Renal hypoplasia, H... ORPHA:254913
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Lactic acidosis, Metabolic acidosis, Hyperalaninemia, Increased circulating lactate concentration... OMIM:619051
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Decreased body weight, Short stature, Hyperammonemia, Hyponatremia, Growth de... ORPHA:1667
Mitochondrial Trifunctional Protein Deficiency 2
Metabolic acidosis, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myogl... OMIM:620300
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Metabolic alkalosis, Hypokalemia, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Hawkinsinuria
Hawkinsinuria, Metabolic acidosis, Hypertyrosinemia, Failure to thrive, 4-Hydroxyphenylpyruvic ac... OMIM:140350
Mitochondrial Dna Depletion Syndrome 17
Hyperammonemia, Low plasma citrulline, Acidosis OMIM:618567
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Failure to thrive, Increased level of methylsuccinic acid in urine, Intrau... ORPHA:26792
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... OMIM:235400
Beta-Ketothiolase Deficiency
Metabolic acidosis, Hyperuricemia, Increased circulating lactate concentration, Hyperammonemia, A... ORPHA:134
Hsd10 Disease, Infantile Type
Lactic acidosis, Metabolic acidosis, Increased circulating lactate concentration, Hyperammonemia,... ORPHA:391428
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, High, narrow palate, Redu... ORPHA:228308
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Lactic acidosis, Respiratory distress, Organic aciduria, Increased circulating lact... OMIM:614741
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Increased circulating lactate concentration OMIM:614652
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
3-Methylglutaconic aciduria, Renal tubular acidosis, Hyperalaninemia, Elevated circulating creati... ORPHA:324525
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni... OMIM:277410
Citrullinemia, Classic
Elevated plasma citrulline, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Failur... OMIM:215700
Hawkinsinuria
Metabolic acidosis, Failure to thrive, Abnormal circulating tyrosine concentration, 4-Hydroxyphen... ORPHA:2118
Argininosuccinic Aciduria
Oroticaciduria, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia int... OMIM:207900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Holocarboxylase Synthetase Deficiency
Lactic acidosis, Metabolic acidosis, Organic aciduria, Hyperammonemia, 3-hydroxyisovaleric acidur... OMIM:253270
Oculoskeletodental Syndrome
Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Short stature, Hypercalcemia... OMIM:618440
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias, Growth delay, Hyperammonemia... ORPHA:1194
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy... ORPHA:3032
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Increased circulating lactate concentration, Microscopic hematuria, In... OMIM:274150
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula... ORPHA:449395
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Respiratory distress, ... ORPHA:2414
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol level, Hypoka... ORPHA:320
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar... ORPHA:93126
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Death in adolescence, Neonatal death, Dysphagia OMIM:619751
Gaucher Disease Type 2
Hepatomegaly, Respiratory distress, Splenomegaly, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased circulating lactate concentration OMIM:619062
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... ORPHA:340
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Reduced tissue carnitine O-palmitoyltransferase ... ORPHA:157
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Lactic acidosis, Metabolic acidosis, Respiratory distress, Low-output congestive heart failure, H... ORPHA:91130
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Sepsis In Premature Infants
Metabolic acidosis, Elevated circulating C-reactive protein concentration, Decreased body weight,... ORPHA:90051
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Decreased serum bicarbonate concentration, Metabolic acidosis, Hypokalemia, Hyperchloremic acidos... OMIM:604278
Combined Oxidative Phosphorylation Deficiency 43
Elevated circulating creatine kinase concentration, Small for gestational age, Intrauterine growt... OMIM:618851
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Respiratory alk... OMIM:311250
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Hepatomegaly, Multiple glomerular cysts, Abnormality of Krebs c... ORPHA:255210
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Duplicated collecting system, Hyperammonemia, Failure to thrive, Hy... OMIM:617093
Lysinuric Protein Intolerance
Oroticaciduria, Intraalveolar phospholipid accumulation, Increased circulating lactate concentrat... OMIM:222700
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine OMIM:231900
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Lactic acidosis, Metabolic acidosis, Decreased circulating carnitine concentra... ORPHA:26791
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyponatremia, Failure to thrive, Hyperaldos... OMIM:264350
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Hyperaldosteronism, Acidosis, Increased circulating renin level OMIM:619406
Lipoyltransferase 1 Deficiency
Decreased liver function, Lactic acidosis, Elevated circulating hepatic transaminase concentratio... OMIM:616299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Lactic acidosis, Hypospadias, Hyperalaninemia, Increased circulating... OMIM:614052
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Patent Ductus Venosus
Hyperammonemia, Hypergalactosemia OMIM:601466
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Abnormal bleeding, Jaundice, Elevated circulating hepatic transaminase... OMIM:208085
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr... OMIM:612933
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal ca... ORPHA:405
2P21 Microdeletion Syndrome
Lactic acidosis, Hypocalcemia, Nephrolithiasis, Growth delay, Failure to thrive, Cystinuria ORPHA:163693
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperalaninemia, Failure to thrive, Hyperammonemia, Low plasma citrulline, Hyp... OMIM:237310
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hyperlipidemia, Failure to thrive in infancy,... OMIM:232700
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hypoglutaminemia, Metabolic acidosis, Hyperglutamate... ORPHA:3008
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Decreased serum bicarbonate concentration, Long-chain dica... OMIM:608836
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating... ORPHA:556037
Galactosemia I
Increased level of galactitol in red blood cells, Metabolic acidosis, Galactosuria, Increased lev... OMIM:230400
Galactosemia Iii
Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosida... OMIM:230350
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease... ORPHA:470
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co... ORPHA:79303
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Metabolic acidosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic steatosis, Hepatic failure OMIM:261650
Succinic Acidemia
Lactic acidosis, Respiratory distress OMIM:600335
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased circulating lactate concentration OMIM:618245
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Palpebral edema, Respiratory distress, Abnormal capillary physiology, Tongue edema, Angioedema, P... ORPHA:100057
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Metabolic acidosis, Dehydr... OMIM:618958
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Metabolic acidosis, Hypokalemia, Renal tubular dysfunction, Sho... OMIM:134600
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Lactic acidosis, Organic aciduria, Neonatal death OMIM:617184
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating... ORPHA:556030
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated circulating cre... OMIM:602088
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased circulating lactate concentration OMIM:249500
Citrullinemia Type I
Respiratory alkalosis, Failure to thrive, Elevated plasma citrulline, Hyperammonemia ORPHA:247525
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Lactic acidosis, Hypospadias, Renal tubular acidosis, Hyperalaninemia, Increased circulating lact... OMIM:615471
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine ORPHA:391457
Glutaric Acidemia Type 3
Glutaric aciduria, Failure to thrive, Abnormal circulating enzyme concentration, Elevated circula... ORPHA:35706
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Lactic acidosis, Metabolic acidosis, Small for gestational age, Hypercalciuria, Hype... OMIM:557000
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Increased blood urea nitrogen, Short stature, Obesity, Hypercal... ORPHA:251004
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Elevated circulating C-reactiv... ORPHA:49041
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thr... OMIM:203400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abnormality of the kidney, Intermittent lactic acidemia, Postprandial hyperlacte... ORPHA:369
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration, Metabolic acidosis, Increased circulatin... ORPHA:97292
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Decreased circulating carnitine concentrat... OMIM:201475
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Renal insufficiency ORPHA:27
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi... OMIM:613642
Argininemia
Postnatal growth retardation, Oroticaciduria, Hyperargininemia, Hyperammonemia, Diaminoaciduria OMIM:207800
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Severe shor... OMIM:156400
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Renal cell carcinoma OMIM:150800
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Lactic acidosis, Elevated lactate:pyruvate ratio, Increased circula... OMIM:616111
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress OMIM:254120
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Lactic acidosis, Metabolic acidosis, Myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:616878
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Hematuria, Elevated circulating creatine kinase concentration, Ele... ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hyperalaninemia, Aciduria, Increased circulating lactate concentration OMIM:617950
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, 3-Methylglutaconic aciduria, Hypospadias, Microvesicular hepatic st... OMIM:610198
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Hydrops fetalis, Reduced left ventric... ORPHA:45452
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Metabolic acidosis, Hypouricemia, Short stature, Glycosuria, Hyperphos... OMIM:616026
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Cachexia, Abnormal intestine morphology,... ORPHA:37042
Acetyl-Coa Carboxylase-Alpha Deficiency
Growth delay, Increased circulating lactate concentration OMIM:613933
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Hepatic steatosis, Proteinuria ORPHA:79087
Lujo Hemorrhagic Fever
Metabolic acidosis, Elevated circulating C-reactive protein concentration, Microscopic hematuria,... ORPHA:319213
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalc... OMIM:615398
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Abnormality of the kidney, Abnormality of the urinary system, Dehydration ORPHA:99886
Microscopic Polyangiitis
Oliguria, Glomerulopathy, Hematuria, Renal insufficiency ORPHA:727
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Decrea... ORPHA:247585
Pleural Mesothelioma
Hepatomegaly, Dyspnea, Dysphagia, Respiratory distress ORPHA:50251
Interstitial Lung And Liver Disease
Lactic acidosis, Intraalveolar phospholipid accumulation, Hyperammonemia, Failure to thrive, Amin... OMIM:615486
Diarrhea 13
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration OMIM:620357
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Growth delay, Renal hypoplasia, Hyperechogenic kidneys, Intrauter... OMIM:617595
Hyperlysinemia
Argininuria, Decreased urine alpha-ketoglutarate concentration, Hyperlysinemia, Short stature, Hy... ORPHA:2203
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperalaninemia, Hyperammonemia, Acute hyperammonemia, Failure to thrive, Hyperglutaminemia ORPHA:927
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Lactic acidosis, Hypocalcemia, Nephrolithiasis, Increased circulati... OMIM:606407
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:605809
Idiopathic Achalasia
Decreased circulating prealbumin concentration, Weight loss ORPHA:930
Developmental And Epileptic Encephalopathy 50
Hyperammonemia, Failure to thrive, Oroticaciduria, Renal tubular acidosis OMIM:616457
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Incr... ORPHA:2364
3-Methylglutaconic Aciduria Type 9
3-Methylglutaconic aciduria, Urinary incontinence, Increased circulating lactate concentration, F... ORPHA:505216
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:201450
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased circulating lactate concentration, Hyperglycinemia, Lacticaciduria OMIM:619063
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Intestinal obstruction, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, I... ORPHA:183
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Dysp... OMIM:613561
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Short stature, Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Respiratory distress OMIM:619099
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Short stature, Increased circulating lactate concentration ORPHA:457050
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Hyperammonemia, Hypoornithinemia, Failure to thrive, Intrauterine growth retardati... OMIM:219150
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Elevated circulating creatine kinase concentration OMIM:255100
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Lactic acidosis, Elevated circulating creatine kinase concentration, Increased circulating lactat... ORPHA:480864
Chronic Hiccup
Dehydration ORPHA:396
Glucose/Galactose Malabsorption
Glycosuria, Metabolic acidosis, Hypertonic dehydration OMIM:606824
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Gout, Stage ... OMIM:603860
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Edema, Tachypnea OMIM:267450
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Increased urinary copper concentration, Hepatic steatosis ORPHA:209919
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Metabolic acidosis, Increased circulating renin level, Hyponatr... ORPHA:427
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Lassa Fever
Oliguria ORPHA:99824
3-Hydroxy-3-Methylglutaric Aciduria
Metabolic acidosis, Hyperuricemia, Increased circulating lactate concentration, Hyperammonemia, 3... ORPHA:20
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Elevated circulating creatine kinase concentration, Short stature, Methylmalonic acidur... ORPHA:1933
Glutamate Formiminotransferase Deficiency
Growth delay, Positive ferric chloride test, Elevated urinary formiminoglutamic acid level, Amino... OMIM:229100
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... OMIM:203800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Metabolic acidosis, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentra... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 44
Increased circulating lactate concentration OMIM:618855
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Pulmonary Blastoma
Weight loss ORPHA:64741
Bardet-Biedl Syndrome 16
Respiratory distress, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease... OMIM:615993
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum pyruvate, Increased circulating lactate concentration OMIM:614055
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Dicarboxylic aciduria, Myoglobinuria, Growth del... OMIM:231530
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Respiratory distress ORPHA:141152
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Metabolic acidosis, Hyperhomoc... ORPHA:79282
Multiple Mitochondrial Dysfunctions Syndrome 1
Lactic acidosis, Hyperglycinuria, Alpha-aminoadipic aciduria, Increased circulating lactate conce... OMIM:605711
Cholera
Acute kidney injury, Lactic acidosis, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of ren... ORPHA:173
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Lactic acidosis, Respiratory distress, Elevated circulating alanine ami... OMIM:616974
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Nephrotic range proteinuria, Short statu... ORPHA:300536
Dihydropyrimidinase Deficiency
Uraciluria, Metabolic acidosis, Elevated urinary dihydrothymine level, Elevated urinary dihydrour... OMIM:222748
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Weight loss, Nephropathy ORPHA:100024
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol... OMIM:615026
Carnitine-Acylcarnitine Translocase Deficiency
Hyperammonemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration OMIM:212138
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Metabolic acidosis, Isothenuria, Hypokalemia, Short stature, Failure to thrive, Nephrocalcinosis,... OMIM:611590
Malaria
Acute kidney injury, Gait imbalance, Respiratory distress ORPHA:673
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol... OMIM:614736
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagn... OMIM:620152
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea, Episodic ketoacidosis, Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... ORPHA:143
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Failure to thrive, Lactic acidosis, Intrauterine growth retardation OMIM:615440
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis OMIM:222100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa... ORPHA:488627
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Growth delay, Glycosuria, Hyperphosphaturia, Renal... ORPHA:411629
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Spasticity, Childhood-Onset, With Hyperglycinemia
Hyperglycinemia, Increased circulating lactate concentration OMIM:616859
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Metabolic acidosis, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephrocalcinosis, Prot... OMIM:613404
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Failure to thrive, Increased circulating lactate concentration OMIM:620609
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased circulating lactate concentration ORPHA:238329
Splenoportal Vascular Anomalies
Hyperammonemia OMIM:271500
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Elevated circulating creatine kinase concentration, Increased circulating lactate c... OMIM:617613
Friedreich Ataxia
Mitochondrial malic enzyme reduced, Decreased pyruvate carboxylase activity OMIM:229300
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hyperoxaluria, Primary, Type I
Hematuria, Metabolic acidosis, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, ... OMIM:259900
Sulfite Oxidase Deficiency, Isolated
Metabolic acidosis, Decreased urinary sulfate, Elevated circulating creatine kinase concentration... OMIM:272300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Cholesteryl Ester Storage Disease
Steatorrhea, Increased circulating lactate dehydrogenase concentration, Acute hepatic failure, Sp... OMIM:278000
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Hyperaldosteronism, Ne... ORPHA:534
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased... ORPHA:542323
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Lactic acidosis, Elevated circulating hepatic transaminase concentrat... OMIM:613070
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Polyhydramnios, Dehydration OMIM:616069
Microvillus Inclusion Disease
Metabolic acidosis, Dehydration, Hypovolemia, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Biotinidase Deficiency
Hyperammonemia, Organic aciduria, Metabolic ketoacidosis OMIM:253260
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:600740
Lead Poisoning
Delayed puberty, Skin rash, Oligozoospermia, Chronic kidney disease, Abnormal sperm morphology, S... ORPHA:330015
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Increased blood urea nitrogen, Growth delay, Abnormal renal physiology, Ele... OMIM:223900
Wilson Disease
Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hyperc... OMIM:277900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Enuresis, Short stature, Cleft palate, Tubulointerstitial nephritis ORPHA:459061
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Very long chain fatty acid... OMIM:264470
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal circulating citrulline concentration, Hyperornithinemia, Oroticaciduria, Failure to thri... ORPHA:415
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hepatic steatosis OMIM:615996
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Hyponatremi... ORPHA:544482
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Increased circulating lactate concentration, Failure to thrive, Rena... OMIM:604273
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Failure to thrive, Increased circulating lactate concentration OMIM:616672
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Polyhydramnios, Respiratory distress OMIM:300580
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis, Oligozoospermia, Azoospermia OMIM:615703
Neonatal Severe Primary Hyperparathyroidism
Short stature, Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Hydroxykynureninuria
Elevated urinary 3-hydroxykynurenine level, Jaundice, Elevated urinary xanthurenic acid level OMIM:236800
Leprechaunism
Postnatal growth retardation, Enlarged kidney, Hypokalemia, Long penis, Hypercalciuria, Decreased... ORPHA:508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosi... ORPHA:369837
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... OMIM:605911
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Exertional dyspnea, Death in childhood, Respiratory distr... OMIM:220110
Perlman Syndrome
High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblast... ORPHA:2849
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:79084
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
3-Methylglutaconic aciduria, Lactic acidosis OMIM:614053
2,4-Dienoyl-Coa Reductase Deficiency
Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration, Metabolic acidosis, Hyperl... OMIM:616034
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Hypophosphatemia, Episodic metabolic acidosis, Stage ... OMIM:219800
D-Glyceric Aciduria
Metabolic acidosis, Nonketotic hyperglycinemia, Hyperglycinuria, Increased circulating free fatty... ORPHA:941
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaconic aciduria, Urinary incontinence, Increased circulating lactate concentration, F... OMIM:617698
Adrenomyodystrophy
Abnormal intestine morphology, Short stature, Failure to thrive, Hepatic steatosis, Megacystis, A... ORPHA:977
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Hepatomegaly, Severe lactic acidosis, Respiratory distress ORPHA:254864
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob... ORPHA:90038
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Cleft palate, Proteinuria,... ORPHA:33001
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Abnormal renal corticomedullary di... OMIM:616733
Mitochondrial Myopathy, Infantile, Transient
Lactic acidosis, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevate... OMIM:500009
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding ORPHA:3325
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism ORPHA:82
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa... OMIM:604387
Cystinosis
Renal insufficiency, Dehydration, Portal hypertension, Proteinuria, Nephropathy, Aminoaciduria, R... ORPHA:213
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Failure to thrive, Lactic acidosis, Increased circulating lactat... OMIM:616198
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Lactic acidosis, Elevated circulating creatine kinase concentration, Incr... OMIM:612073
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, 3-Methylglutaconic aciduria, Abnormal bleeding, Polyhydramnios, Conge... OMIM:616271
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Methylmalonic aciduria, Lactic acidosis, Elevated lactate:pyruvate ratio, Growth... OMIM:245400
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Dyspne... ORPHA:422
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Short stature, Glycosuria, Failure to thrive, Ketonuria ORPHA:2089
Gracile Syndrome
Cirrhosis, Cholestasis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep... ORPHA:53693
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:600649
Multiple Mitochondrial Dysfunctions Syndrome 3
Beta-aminoisobutyric aciduria, Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidos... OMIM:615330
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Metabolic acidosis, Hypotension, Dehydration OMIM:620125
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Nocturia, Weight loss ORPHA:178029
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate conc... OMIM:619053
3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic aciduria, Urinary incontinence, Metabolic acidosis, Failure to thrive OMIM:250950
Blue Diaper Syndrome
Metabolic acidosis, Blue urine, Increased body weight, Nephrocalcinosis, Hypercalcemia, Hyperphos... ORPHA:94086
Mitochondrial Complex I Deficiency, Nuclear Type 29
Lactic acidosis, Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased circulating lactate ... OMIM:618250
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Nephronophthisis 9
Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro... OMIM:613824
Mulibrey Nanism
Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulating hepatic transamina... ORPHA:264580
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency OMIM:617671
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Metabolic acidosis, Increased circulating lactate concentration OMIM:610090
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Ketonuria, Renal steatosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentra... OMIM:261680
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Lactic acidosis, Hypocalcemia, Elevated circulating creatine k... ORPHA:466650
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Lactic acidosis, Aminoaciduria OMIM:609560
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... ORPHA:731
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Xerostomia, Biliary cirrhosis, Tubulointerstitial nephritis, An... ORPHA:227982
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,... OMIM:208540
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Xerostomia, Biliary cirrhosis, Tubulointerstitial nephritis, An... ORPHA:227990
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
4-hydroxyphenylacetic aciduria, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase co... OMIM:617156
Fructose-1,6-Bisphosphatase Deficiency
Lactic acidosis, Elevated circulating hepatic transaminase concentration, Metabolic acidosis, Int... ORPHA:348
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Conjugat... OMIM:617049
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi... OMIM:154230
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Severe short-limb dwarfism ORPHA:436182
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased serum pyruvate, Increased urine alpha-ketoglutarate concentration, Increased circulatin... OMIM:619224
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Pyruvate Carboxylase Deficiency
Lactic acidosis, Increased serum pyruvate, Hyperalaninemia, Increased circulating lactate concent... OMIM:266150
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Lactic acidosis, Failure to thrive ORPHA:67048
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Dysphagia, Respiratory distress ORPHA:240103
Rett Syndrome
Increased serum pyruvate, Increased circulating lactate concentration, Growth delay, Hyperammonem... ORPHA:778
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Lactic acidosis, Hematuria, Metabolic acidosis, ... ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Increased circulating lactate concentration OMIM:618951
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia ORPHA:2597
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Delayed puberty, Hyperuricemia, Hyperkalemic metabolic acidosis... ORPHA:95409
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... ORPHA:230
Renal Tubular Dysgenesis
Renotubular dysgenesis, Anuria, Abnormality of the urinary system OMIM:267430
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... ORPHA:99880
Isolated Glycerol Kinase Deficiency
Short stature, Metabolic acidosis, Elevated circulating creatine kinase concentration ORPHA:408
Glutamine Deficiency, Congenital
Hyperammonemia, Hypoglutaminemia OMIM:610015
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration, Hematochezia ORPHA:103910
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Weight loss ORPHA:90060
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Intermediate ... ORPHA:91500
Biotinidase Deficiency
Hyperammonemia, Organic aciduria, Metabolic ketoacidosis ORPHA:79241
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hydronephrosis, Hypercholesterolemia, Unilateral renal agenesis OMIM:620454
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Developmental And Epileptic Encephalopathy 53
Elevated circulating creatine kinase concentration, Increased circulating lactate concentration OMIM:617389
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue carnitine O... ORPHA:228305
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ... ORPHA:101330
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Growth dela... OMIM:256300
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Hyponatremia, Failure to thrive, Decreased circulating corti... OMIM:300200
Cockayne Syndrome Type 1
Postnatal growth retardation, Increased blood urea nitrogen, Failure to thrive, Proteinuria, Rena... ORPHA:90321
Mitochondrial Complex I Deficiency, Nuclear Type 23
Growth delay, Increased circulating lactate concentration OMIM:618244
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Failure to thrive, Metabolic acidosis, Increased circulating lac... OMIM:618237
Laryngeal Neuroendocrine Tumor
Elevated circulating carcinoembryonic antigen concentration, Weight loss ORPHA:100083
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Metabolic acidosis, Beta-alaninuri... OMIM:614105
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i... ORPHA:35710
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib... OMIM:266900
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Congestive heart failure, Hepatomegaly, Left bundle branch block, Reduced left v... OMIM:115197
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Mitochondrial Complex I Deficiency, Nuclear Type 11
Decreased activity of mitochondrial complex I, Failure to thrive, Hepatomegaly, Macrovesicular he... OMIM:618234
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glomerular sclerosis, Rena... OMIM:619487
Obesity And Hypopigmentation
Obesity, Hepatic steatosis OMIM:620195
Combined Oxidative Phosphorylation Deficiency 3
Lactic acidosis, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentrat... OMIM:610505
Mitochondrial Complex I Deficiency, Nuclear Type 26
Increased circulating lactate concentration, Elevated lactate:pyruvate ratio, Metabolic acidosis,... OMIM:618247
Gitelman Syndrome