Gene: Car2 MGI:88269

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

carbonic anhydrase 2

Synonyms:

Car-2, CAII, CA II, Ltw-5, Lvtw-5

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Car2 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.

Human diseases associated with Car2 (2 diseases)
Human diseases predicted to be associated with Car2 (893 diseases)

The table below shows human diseases associated to Car2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteopetrosis With Renal Tubular Acidosis		Metabolic acidosis, Renal tubular acidosis, Distal renal tubular acidosis, Elevated circulating c...	ORPHA:2785
Osteopetrosis, Autosomal Recessive 3		Distal renal tubular acidosis	OMIM:259730

The table below shows human diseases predicted to be associated to Car2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Testicular Torsion	Testicular torsion, Torsion of appendix of testis	OMIM:187400
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperchloremic acidosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal ...	OMIM:604278
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Complement Factor I Deficiency	Septic arthritis, Recurrent Haemophilus influenzae infections, Recurrent urinary tract infections...	OMIM:610984
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Distal renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, Metabolic acidosis	OMIM:602722
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Hypokalemia, Hypophosphatemia, Hyperphosphaturia, Renal tubular dysfun...	OMIM:134600
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Ele...	OMIM:179800
Medullary Sponge Kidney	Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis	ORPHA:1309
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Proximal tubulopathy, Abnormal magnesium concentration, Hypokal...	OMIM:241150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Renal tubular acidosis	OMIM:239199
Pyruvate Carboxylase Deficiency	Hyperalaninemia, Proximal renal tubular acidosis, Lactic acidosis, Increased serum lactate, Incre...	OMIM:266150
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Isothenuria, Hyperchloremic metabolic acidosis, Distal renal tubular acidosis, Nephr...	OMIM:611590
Spermatogenic Failure 32	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:619831
Xanthinuria, Type I	Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis	OMIM:278300
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Nephrolithiasis, Renal tubular acidosis	OMIM:267300
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Partial Chromosome Y Deletion	Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M...	ORPHA:1646
Liddle Syndrome 3	Hypokalemia, Metabolic alkalosis	OMIM:618126
Pyruvate Dehydrogenase Phosphatase Deficiency	Hyperalaninemia, Lactic acidosis, Increased serum lactate, Lacticaciduria, Hyperprolinemia	ORPHA:79246
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c...	OMIM:161900
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia, Hypokalemic alkalosis, Renal insufficiency, Metab...	OMIM:177200
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Acidosis, Nephropathy, Protei...	OMIM:137950
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Severe lactic acidosis,...	ORPHA:255249
Fanconi-Bickel Syndrome	Glycosuria, Hypokalemia, Hypophosphatemia, Hyperphosphaturia, Acidosis, Generalized aminoaciduria...	OMIM:227810
Mannose-Binding Lectin Deficiency	Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf...	OMIM:614372
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bact...	OMIM:613779
Complement Factor H Deficiency	Glomerular subendothelial electron-dense deposits, Hematuria, Recurrent bacterial infections, Thi...	OMIM:609814
Hsd10 Disease, Neonatal Type	Abnormal concentration of acylcarnitine in the urine, Metabolic acidosis, Lactic acidosis	ORPHA:391457
Gracile Syndrome	Decreased transferrin saturation, Lactic acidosis, Increased circulating ferritin concentration, ...	ORPHA:53693
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit...	ORPHA:730
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism	OMIM:618110
Posterior Urethral Valve	Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention...	ORPHA:93110
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Increased serum lactate, Alaninuria, Metabolic acidosis	OMIM:615158
Say Syndrome	Cleft palate, Short stature, Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Recurrent bronchitis, Nephritis	OMIM:216950
Adenine Phosphoribosyltransferase Deficiency	Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati...	OMIM:614723
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, H...	ORPHA:3337
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Giant cell hepatitis, Nephrocalci...	OMIM:613404
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Liddle Syndrome	Nephropathy, Hypokalemia, Renal insufficiency	ORPHA:526
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio...	OMIM:601198
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hypokalemia, Polyuria, Hypercalciuria, Metabolic acidosis	OMIM:613677
Immunodeficiency 51	Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections...	OMIM:613953
Hypomagnesemia 3, Renal	Hyperuricemia, Hypocitraturia, Hypercitraturia, Hypermagnesiuria, Recurrent urinary tract infecti...	OMIM:248250
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Episodic ketoacidosis, Ketoacidosis, Lactic acidosis	OMIM:236795
Gracile Syndrome	Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Chronic la...	OMIM:603358
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Mitochondrial Complex I Deficiency, Nuclear Type 32	Increased serum lactate, Metabolic acidosis	OMIM:618252
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, Metabolic acidosis, ...	ORPHA:2118
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium...	OMIM:618314
Familial Hypoaldosteronism	Hyperkalemia, Renal salt wasting, Increased circulating renin level, Proximal renal tubular acido...	ORPHA:427
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia	OMIM:154020
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:613944
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Hyperlysinemia, Aspiration pneumonia, Renal tubular acidosis, Decreased plasma carnitine, Abnorma...	ORPHA:431361
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Proximal tubulopathy,...	ORPHA:411634
Bartter Syndrome, Type 3	Hypokalemia, Renal salt wasting, Increased circulating renin level, Hypokalemic metabolic alkalos...	OMIM:607364
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemic hypochloremic metabolic alkalosis, Hypokalemia, Renal salt wasting, Hypernatriuria, H...	OMIM:613090
Mitochondrial Complex I Deficiency, Nuclear Type 35	Hyperalaninemia, Lactic acidosis, Lacticaciduria, Elevated lactate:pyruvate ratio, Hyperprolinemi...	OMIM:619003
East Syndrome	Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Abnorma...	ORPHA:199343
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r...	OMIM:611555
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	3-Methylglutaconic aciduria, Lactic acidosis	OMIM:614053
Glycine Encephalopathy	Breathing dysregulation, Hyperglycinemia, Respiratory acidosis	ORPHA:407
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Stomatitis, Renal tubular acidosis, Metabolic acid...	ORPHA:79155
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Metabolic acidosis	ORPHA:2597
Fanconi-Bickel Syndrome	Renal tubular acidosis, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduri...	ORPHA:2088
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia	OMIM:314300
Riboflavin Deficiency	Metabolic acidosis, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lact...	OMIM:615026
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Hypokalemia, Hypophosphatemia, Hyperphosphaturia, Acidosis, Abnormal b...	ORPHA:411629
Proximal Renal Tubular Acidosis	Aminoaciduria, Hyperuricosuria, Vomiting, Diarrhea, Short stature, Malabsorption, Glycosuria, Hyp...	ORPHA:47159
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Renal salt wasting, Hyponatremia, Recurrent respiratory infections, Metabolic acidosis	OMIM:264350
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urine acetoacetic acid level, Hyperalaninemia, Hypoornithinemia, Ketonuria, Elevated uri...	OMIM:615751
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Hypokalemic metabolic alkal...	ORPHA:320
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal dysplasia, Lactic acidosis, Renal cyst, Increased serum lactate, Re...	OMIM:614922
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur...	OMIM:300971
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati...	OMIM:619386
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Metabolic acidosis	OMIM:223000
Colchicine Poisoning	Renal insufficiency, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Lactic acid...	ORPHA:31824
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria	OMIM:610205
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration...	OMIM:255120
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Proximal renal tubular acidosis, Lactic acidosis, Increased serum lactate, Congenital lactic acid...	OMIM:615824
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Mitochondrial Complex Iv Deficiency, Nuclear Type 18	Increased serum lactate, Increased serum pyruvate	OMIM:619062
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia, Metabolic alkalosis	OMIM:618114
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Reduced renal corticomedullary diff...	OMIM:208085
Testicular Regression Syndrome	Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit...	ORPHA:983
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Mixed respir...	OMIM:145600
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hyperalaninemia, Increased serum lactate, Elevated serum anion gap,...	OMIM:614582
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Diarrhea 7, Protein-Losing Enteropathy Type	Vomiting, Diarrhea, Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Protein-losing enterop...	OMIM:615863
Nephronophthisis 2	Hyperkalemic metabolic acidosis, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, C...	OMIM:602088
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypokalemia, Polycystic kidne...	OMIM:613095
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat...	OMIM:615605
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Elevated serum bicarbonate concentration, Renal sodium wasting, Hypokalemia, Renal salt wasting, ...	OMIM:612780
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Renal tubular acidosis	ORPHA:156
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Hypokalemic hypochloremic metabolic alkalosis, Hypokalemia,...	OMIM:602522
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom...	OMIM:615237
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal tubular atrophy, Nephrotic syndrome, Respiratory distress, Decreased glomerular filtration ...	OMIM:614748
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:161950
Mitochondrial Complex I Deficiency, Nuclear Type 24	Increased serum lactate	OMIM:618245
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic...	OMIM:619079
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hypokalemia, Hyperphosphat...	ORPHA:18
Intellectual Developmental Disorder, Autosomal Recessive 1	Increased serum lactate	OMIM:249500
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Methylma...	OMIM:251120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati...	OMIM:162000
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis	OMIM:618235
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ...	ORPHA:2494
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Vomiting, Renal tubular acidosis, Diarrhea, Short stature, Hepatocellular adenoma, Hepatocellular...	ORPHA:79240
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Hyperammonemia, Recurrent upper respiratory tract infections, Pancreatit...	OMIM:620137
Cholera	Abnormality of renal excretion, Aspiration pneumonia, Acute kidney injury, Hypokalemia, Decreased...	ORPHA:173
Galactosemia I	Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le...	OMIM:230400
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea	OMIM:613291
Glycogen Storage Disease Xi	Elevated circulating creatine kinase concentration, Increased serum lactate, Increased serum pyru...	OMIM:612933
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia, Metabolic alkalosis	OMIM:218030
Diarrhea 1, Secretory Chloride, Congenital	Elevated serum bicarbonate concentration, Hypokalemia, Increased circulating renin level, Hypochl...	OMIM:214700
Blue Diaper Syndrome	Hyperphosphatemia, Blue urine, Hypercalcemia, Nephrocalcinosis, Metabolic acidosis	ORPHA:94086
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased serum lactate, Protein-losing enteropathy, Hyperglycinemia, Lacticaciduria	OMIM:619063
Homozygous 11P15-P14 Deletion Syndrome	Vomiting, Diarrhea, Generalized aminoaciduria, Abnormal intestine morphology, Renal tubular dysfu...	OMIM:606528
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Increased serum lactate, Metabol...	OMIM:616034
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Proximal tubulopathy, Beta 2-microglobulinur...	OMIM:308990
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Vomiting, Renal tubular acidosis, Diarrhea, Short stature, Hepatocellular adenoma, Elevated circu...	ORPHA:264580
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Cystinosis	Aminoaciduria, Hypokalemia, Hypophosphatemia, Nephropathy, Proteinuria, Renal insufficiency, Rena...	ORPHA:213
Mitochondrial Pyruvate Carrier Deficiency	Organic aciduria, Increased serum lactate, Increased serum pyruvate, Lactic acidosis	OMIM:614741
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:616209
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Decreased circulating renin level, Hyperkalemia, Hyperchloremic metabolic acidosi...	OMIM:614492
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Metabolic alkalosis	ORPHA:231580
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,...	ORPHA:263665
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Metabolic acidosis, Increased level of methylsu...	ORPHA:26792
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Diarrhea 12, With Microvillus Atrophy	Vomiting, Bronchiectasis, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Microvilla...	OMIM:619445
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Elevated circulating creatine kinase concentration	ORPHA:408
Familial Hyperaldosteronism Type Iii	Hypokalemia, Metabolic alkalosis, Hypercalciuria	ORPHA:251274
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:616022
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Glycosuria, Hypophosphatemia, Hyper...	OMIM:229600
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Vomiting, Renal tubular acidosis, Diarrhea, Hepatocellular adenoma, Hepatocellular carcinoma, Ele...	ORPHA:370
Coenzyme Q10 Deficiency, Primary, 3	Increased serum lactate, Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Protracted diarrhea, Growth delay, Villous atrophy	OMIM:251850
2P21 Microdeletion Syndrome	Hypocalcemia, Nephrolithiasis, Cystinuria, Lactic acidosis	ORPHA:163693
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ...	OMIM:146255
Vici Syndrome	Ureteral atresia, Recurrent infections, Renal tubular acidosis, Recurrent respiratory infections	ORPHA:1493
Primary Hyperoxaluria Type 1	Calcinosis, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Recurrent urinary tract in...	ORPHA:93598
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis, Metabolic acidosis	OMIM:614496
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Alaninuria, Lacticaciduria, Lactic acidosis, Increased serum lactate, ...	OMIM:616299
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Decreased plasma free carnitine, Increased urine succinate level, Increased seru...	OMIM:619048
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia, Renal cortical adenoma, Metabolic alkalosis	ORPHA:231632
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac...	OMIM:615160
Ficolin 3 Deficiency	Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format...	OMIM:613860
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Stage 3 chronic kidney disease, Hypophosphatemia, Medullary nephrocalcinosi...	OMIM:619743
Acetyl-Coa Acetyltransferase-2 Deficiency	Increased serum lactate, Increased serum pyruvate	OMIM:614055
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections	OMIM:613495
Bartter Syndrome Type 4	Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hypoka...	ORPHA:89938
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Renal tubular acidosis, Lactic acidosis, Increased serum lactate, Hypospadias, H...	OMIM:615471
Kearns-Sayre Syndrome	Renal Fanconi syndrome, Renal tubular acidosis, Lactic acidosis	OMIM:530000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia, Increased urinary potassium, Metabolic alkalosis	ORPHA:231625
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154275
Pseudohypoaldosteronism, Type Iia	Hyperchloremic acidosis, Hyperkalemia	OMIM:145260
Apnea, Central Sleep	Urinary incontinence, Lactic acidosis	OMIM:207720
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid concentration, Hypophosphatem...	ORPHA:263455
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Metabolic acidosis, Lactic acidosis	ORPHA:91130
Listeriosis	Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit...	ORPHA:533
Immunodeficiency 12	Recurrent bacterial infections, Recurrent viral infections	OMIM:615468
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Lactic acidosis, Increased serum lactate, Proteinur...	OMIM:220110
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium	OMIM:611489
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Metabolic acidosis, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Combined Oxidative Phosphorylation Deficiency 33	Increased serum lactate, Nephrotic syndrome, Metabolic acidosis, Elevated circulating creatine ki...	OMIM:617713
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Lactic acidosis, Elevated circulating creatine kinase concentration,...	OMIM:618120
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased serum lactate, Increased serum pyru...	ORPHA:2364
Leigh Syndrome	3-Methylglutaconic aciduria, Hyperalaninemia, Renal tubular acidosis, Nephrotic syndrome, Eczema,...	ORPHA:506
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, Chronic kidney disease...	ORPHA:97362
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Hyperphosphaturia, Lactic acidosis, Proteinuria, Renal Fanconi syndrom...	ORPHA:436271
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Pyelonephritis, Recurrent infections, Megacystis, Perit...	OMIM:619351
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Metabolic acidosis, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Combined Oxidative Phosphorylation Deficiency 31	Increased serum lactate, Hyperalaninemia, Lactic acidosis	OMIM:617228
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Hyposthenuria, Hyperprostaglandinuria, Hypokalemia, Increased c...	OMIM:601678
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:154276
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hyperchloremic metab...	OMIM:618913
Hand-Foot-Genital Syndrome	Vesicoureteral reflux, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruction, Renal ins...	OMIM:140000
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Nocturia, Hypokalemic alkalosis, Polyuria, Hypoca...	OMIM:263800
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Metabolic acidosis	OMIM:610090
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis	OMIM:204730
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Increased serum lactate, Elevated lactate:pyruvate ratio, Severe lactic acidosis, Lactic acidosis	OMIM:616111
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Aminoaciduria, Decreased plasma carnitine, Hyperphosphaturia, Hypoph...	OMIM:219800
Sulfite Oxidase Deficiency, Isolated	Eczema, Elevated circulating creatine kinase concentration, Increased urinary sulfite, Decreased ...	OMIM:272300
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Organic aciduria, Lactic acidosis	OMIM:617184
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis	OMIM:301021
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Hypokalemia, Nephrolithiasis, Metabolic alkalosis	OMIM:615474
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis	OMIM:618776
Familial Hyperaldosteronism Type Ii	Hypokalemia, Metabolic alkalosis	ORPHA:404
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Perineal hypospadias, Bifid s...	ORPHA:753
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Hypertyrosinemia, Hawkinsinuria, 4-Hydroxyphenylpyruvic aciduria,...	OMIM:140350
Dihydrolipoamide Dehydrogenase Deficiency	Ketoacidosis, Lactic acidosis, Increased serum pyruvate, Metabolic acidosis	OMIM:246900
Developmental And Epileptic Encephalopathy 50	Hyperammonemia, Renal tubular acidosis	OMIM:616457
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Chronic diarrhea, Malabsorption, Nausea, Abnormal small intestinal mucosa morphology, D...	ORPHA:103907
Immunodeficiency 110 With Lymphoproliferation	Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections	OMIM:614868
Pyruvate Dehydrogenase E1-Beta Deficiency	Hyperammonemia, Lactic acidosis	OMIM:614111
Mitochondrial Complex I Deficiency, Nuclear Type 26	Increased serum lactate, Elevated lactate:pyruvate ratio, Metabolic acidosis, Lacticaciduria	OMIM:618247
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Hyperkalemia, Increased circulating renin level, Recurrent upper and lower respira...	ORPHA:171876
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Me...	OMIM:616026
Pyloric Stenosis, Infantile Hypertrophic, 1	Hypochloremic metabolic alkalosis, Pyloric stenosis, Projectile vomiting	OMIM:179010
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Congenital lactic acidosis, Metabolic acidosis	OMIM:203740
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo...	ORPHA:1876
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega...	OMIM:619350
Tyrosinemia, Type I	Hypermethioninemia, Paralytic ileus, Enlarged kidney, Hepatocellular carcinoma, Episodic vomiting...	OMIM:276700
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Coccidioidomycosis, Recurrent mycobacterial infections, Disseminated nontuberculou...	ORPHA:319552
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	3-Methylglutaconic aciduria, Lactic acidosis, Increased serum lactate, Hyperammonemia, Recurrent ...	OMIM:614739
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis	OMIM:614495
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormal urinary color, Conjugated hyperbilirubinemia	ORPHA:234
Pancreatic Lipase Deficiency	Fat malabsorption, Hypolipidemia, Steatorrhea	OMIM:614338
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunodeficiency 31A	Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent...	OMIM:614892
Helix Syndrome	Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis	OMIM:617671
Cd8 Deficiency, Familial	Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro...	OMIM:608957
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Increased serum lactate, Metabolic acidosis	OMIM:618528
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Nephrolithiasis, Metabolic alkalosis	ORPHA:369929
Pyruvate Dehydrogenase E1-Alpha Deficiency	Hyperalaninemia, Severe lactic acidosis, Lactic acidosis, Increased serum lactate, Increased seru...	OMIM:312170
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric acid in ...	OMIM:246450
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Hypokalemic Tubulopathy And Deafness	Renal salt wasting, Increased circulating renin level, Acidosis	OMIM:619406
Mitochondrial Myopathy, Infantile, Transient	Decreased plasma carnitine, Lactic acidosis, Increased serum lactate, Elevated circulating creati...	OMIM:500009
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Severe lactic acidosis, Lactic acidosis	OMIM:612075
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis	OMIM:618224
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Succinic Acidemia	Lactic acidosis	OMIM:600335
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Azotemia, Stage 5 chronic kidney di...	OMIM:104200
Gitelman Syndrome	Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Diabetic ketoacidosis...	ORPHA:358
Secondary Short Bowel Syndrome	Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ...	ORPHA:95427
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Bronchiectasis, Hepatocellular carcinoma, Chronic pulmonary ob...	OMIM:613490
Thymic Aplasia	Hypocalcemic tetany, Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningi...	ORPHA:83471
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242
Alpha-Heavy Chain Disease	Malabsorption, Abnormal small intestine morphology, Hypocalcemia, Growth delay	ORPHA:100025
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc...	ORPHA:93111
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Sengers Syndrome	Increased serum lactate, 3-Methylglutaconic aciduria, Exercise-induced lactic acidemia	OMIM:212350
Glycerol Kinase Deficiency	Ketoacidosis, Hypertriglyceridemia, Metabolic acidosis, Increased urinary glycerol	OMIM:307030
Combined Oxidative Phosphorylation Deficiency 8	Increased serum lactate, Lactic acidosis, Metabolic acidosis	OMIM:614096
Feingold Syndrome 2	Intestinal atresia, Short stature, Postnatal growth retardation	OMIM:614326
Mitchell-Riley Syndrome	Jejunal atresia, Diarrhea, Malabsorption, Hyperbilirubinemia, Acholic stools, Intestinal malrotat...	OMIM:615710
Leigh Syndrome With Cardiomyopathy	Renal tubular acidosis, Renal dysplasia, Abnormal renal tubule morphology, Renal agenesis, Respir...	ORPHA:70474
Pearson Marrow-Pancreas Syndrome	Vomiting, Villous atrophy, Malabsorption, Hyperbilirubinemia, Steatorrhea, Lactic acidosis, Compl...	OMIM:557000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Metabolic ketoacidosis, Lactic acidosis, Increased serum lactate, Elevated lactate:pyr...	OMIM:615453
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Hyperalaninemia, Lactic acidosis, Increased serum pyruvate, Metabolic acidosis	OMIM:245349
Combined Malonic And Methylmalonic Acidemia	Methylmalonic acidemia, Acidosis, Dicarboxylic acidemia, Dicarboxylic aciduria, Ketoacidosis, Met...	ORPHA:289504
Combined Oxidative Phosphorylation Deficiency 28	Increased serum lactate, Increased serum pyruvate, Severe lactic acidosis	OMIM:616794
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Atresia Of Small Intestine	Vomiting, Jejunal atresia, Short stature, Intestinal malrotation, Intestinal hypoplasia, Intraute...	ORPHA:1201
Bacterial Toxic-Shock Syndrome	Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myositis, Glomer...	ORPHA:36234
Glucose/Galactose Malabsorption	Glycosuria, Metabolic acidosis	OMIM:606824
Diarrhea 5, With Tufting Enteropathy, Congenital	Crypt hyperplasia, Intractable diarrhea, Villous atrophy	OMIM:613217
Multiple Mitochondrial Dysfunctions Syndrome 3	Hyperglycinemia, Lactic acidosis, Elevated lactate:pyruvate ratio, Beta-aminoisobutyric aciduria,...	OMIM:615330
Martinez-Frias Syndrome	Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypop...	OMIM:601346
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis	OMIM:618243
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Glycosuria, Renal Fanconi syndrome, Stage 5 chronic kidney disease	OMIM:268315
Scalp-Ear-Nipple Syndrome	Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Duplication of ren...	ORPHA:2036
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,...	OMIM:611521
Combined Oxidative Phosphorylation Deficiency 30	Increased serum lactate, Elevated lactate:pyruvate ratio, Hyperalaninemia, Lactic acidosis	OMIM:616974
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Hyposthenuria, Hyperprostaglandinuria, Hypokalemia, Increased c...	OMIM:241200
Combined Oxidative Phosphorylation Deficiency 1	Increased serum lactate, Elevated lactate:pyruvate ratio, Metabolic acidosis	OMIM:609060
Glutathione Synthetase Deficiency	Chronic metabolic acidosis, Increased level of L-pyroglutamic acid in urine	OMIM:266130
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Metabolic acidosis	OMIM:618237
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Decreased plasma carnitine, Elevated plasma br...	ORPHA:2394
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating threonine concentration, Abnormal circulating arginine concentration, Abnorm...	ORPHA:79096
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Nephrolithiasis, Alkalosis	OMIM:219090
Epilepsy, Early-Onset, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Mitochondrial Complex I Deficiency, Nuclear Type 11	Increased serum lactate, Lactic acidosis, Metabolic acidosis	OMIM:618234
Malonyl-Coa Decarboxylase Deficiency	Methylmalonic aciduria, Elevated urine suberic acid level, Lactic acidosis, Metabolic acidosis	OMIM:248360
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:609560
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Lactic acidosis	ORPHA:67048
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic acidemia, Lactic acidosis, Elevated circulating creatine kinase conc...	OMIM:612073
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Elev...	OMIM:222748
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne...	OMIM:617913
Dent Disease 2	Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce...	OMIM:300555
3-Methylglutaconic Aciduria, Type I	Urinary incontinence, 3-Methylglutaconic aciduria, Metabolic acidosis	OMIM:250950
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Corticosterone Methyloxidase Type I Deficiency	Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency	Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:610600
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Metabolic acidosis, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:177735
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum lactate, Increased serum pyruvate, Metabolic acidosis	OMIM:618225
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Metabolic acidosis	OMIM:602199
Immunodeficiency 61	Arthritis, Recurrent sinusitis, Recurrent otitis media, Frequent Giardia lamblia infestation, Rec...	OMIM:300310
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Hyperalaninemia, Lactic acidosis, Increased serum lactate, Increased serum pyruvate, Hyperproline...	OMIM:619046
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia, Hypergl...	ORPHA:941
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Renal insufficiency, Highly elevated creatine kinase, Acute kidney injury, Exe...	ORPHA:99845
Combined Oxidative Phosphorylation Deficiency 23	Increased serum lactate, Lactic acidosis	OMIM:616198
Diarrhea 9	Diarrhea, Villous atrophy	OMIM:618168
Glutathione Synthetase Deficiency	Chronic metabolic acidosis	ORPHA:32
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia, Postnatal growth retardation	OMIM:615361
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric ...	OMIM:614105
Holocarboxylase Synthetase Deficiency	Skin rash, 3-hydroxyisovaleric aciduria, Lactic acidosis, Organic aciduria, Hyperammonemia, Eleva...	OMIM:253270
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis, Hypokalemia	ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 5	Abnormal renal tubule morphology, Lactic acidosis, Increased serum lactate, Hyperammonemia, Metab...	OMIM:611719
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Hyperglycinemia, Lactic acidosis, Increased serum lactate, Sepsis	OMIM:619059
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic aciduria, H...	OMIM:210210
Mitochondrial Myopathy With Lactic Acidosis	Increased serum lactate, Hyperalaninemia, Increased serum pyruvate, Lactic acidosis	OMIM:251950
Immunodeficiency, Common Variable, 4	Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis	OMIM:613494
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Cystinuria, Lactic acidosis, Increased serum lactate, Hypocalcemia, Nephrol...	OMIM:606407
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Isovaleric Acidemia	Ketoacidosis, Hyperglycinuria, Metabolic acidosis	OMIM:243500
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Increased serum lactate, Hyperammonemia, Lactic acidosis, Elevated circulating creatine kinase co...	OMIM:618416
Autosomal Recessive Cutis Laxa Type 1	Vesicoureteral reflux, Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum,...	ORPHA:90349
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis...	OMIM:251000
Alg1-Cdg	Renal insufficiency, Abnormality of the gastrointestinal tract, Nephrotic syndrome, Abnormality o...	ORPHA:79327
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Lactic acidosis, Metabolic acidosis	OMIM:300438
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren...	OMIM:613500
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Increased serum lactate, Metabolic acidosis, Ketonuria	OMIM:619053
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Eosinophilic Gastroenteritis	Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Asthma, Allergic rh...	ORPHA:2070
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat...	ORPHA:275
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Recurrent bacterial skin infections, Recurrent mycobacterial infections, Recurrent...	ORPHA:911
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126840
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126850
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas...	OMIM:609057
Glutaric Acidemia Type 3	Ketonuria, Abnormality of circulating enzyme level, Ketoacidosis, Glutaric aciduria, Elevated cir...	ORPHA:35706
Multiple Mitochondrial Dysfunctions Syndrome 1	Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin...	OMIM:605711
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Combined Oxidative Phosphorylation Deficiency 4	Increased serum lactate, Hyperammonemia, Metabolic acidosis, Lactic acidosis	OMIM:610678
Hardikar Syndrome	Vesicoureteral reflux, Hypoplasia of the bladder, Recurrent urinary tract infections, Hydroureter...	OMIM:301068
Pearson Syndrome	Hyperalaninemia, Renal insufficiency, Severe infection, Glycosuria, Hypokalemia, Hypophosphatemia...	ORPHA:699
Bare Lymphocyte Syndrome, Type Ii	Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatit...	OMIM:209920
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal circulating pyruvate family amino acid concentration, Increased serum lactate, Lactic ac...	ORPHA:255182
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Metabolic acidosis, Hyperglycinuria, Medium chain dicarboxylic aciduria	OMIM:201450
Complement Factor B Deficiency	Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis, Peritonitis, Pneumonia	OMIM:615561
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Diarrhea, Abnormal circulating protein concent...	ORPHA:103910
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology, Abnormal renal phys...	ORPHA:2290
Immunodeficiency, Common Variable, 3	Conjunctivitis, Recurrent sinusitis, Recurrent otitis media, Recurrent bacterial infections, Recu...	OMIM:613493
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Lactic acidosis, Increased serum lactate, Hyperammonemia, Metabolic acidosis	OMIM:614702
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis	OMIM:619012
Osteopetrosis With Renal Tubular Acidosis	Metabolic acidosis, Renal tubular acidosis, Distal renal tubular acidosis, Elevated circulating c...	ORPHA:2785
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Pancreatitis, Lactic acidosis	OMIM:618230
Combined Oxidative Phosphorylation Deficiency 34	Increased serum lactate, Increased blood urea nitrogen, Elevated circulating creatinine concentra...	OMIM:617872
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Renal tubular acidosis, Recurrent otitis media, Metabolic acidosis	OMIM:619575
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Bronchiectasis, Lactic acidosis, Increased serum lactate, Hypospadias, Hype...	OMIM:618253
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Increased serum lactate, Elevated circulating creatine kinase concentration	OMIM:617069
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:203780
Coenzyme Q10 Deficiency, Primary, 4	Increased serum lactate, Elevated lactate:pyruvate ratio, Lactic acidosis	OMIM:612016
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Lactic acidosis	OMIM:614458
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum lactate, Hyperalaninemia, Increased serum pyruvate, Lactic acidosis	OMIM:617668
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Postprandial hyperlactemia, Abnormality of the kidney, Intermittent lactic acidemia, Hyperlipidem...	ORPHA:369
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent fungal infections, Rhinitis, Recurrent candida infections, Recurrent Staphylococcus aur...	ORPHA:572
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Increased circulating ferritin concentration, Elevated circulating C-reacti...	OMIM:614034
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Unconjugated hyperbilirubinemia, Acute kidney injury, Hypokalemia, Hemoglobinuria, Hypona...	ORPHA:90038
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Sepsis, R...	ORPHA:183675
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction	ORPHA:1380
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Gastroesophageal reflux, Congenital nephrotic syndrome, Pyloric stenosis, ...	OMIM:256300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyperuricemia, Renal salt wasting, Increased serum lactate, Increased blood urea nitrogen, Hypoch...	OMIM:613845
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hyperalaninemia, Lactic acidosis, Increased serum lactate, Hyperammonemia, Metabolic acidosis	OMIM:619051
Tubulointerstitial Nephritis With Uveitis	Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Elevat...	OMIM:607665
Propionic Acidemia	Hyperglycinemia, Eczema, Lactic acidosis, Hyperammonemia, Increased level of hippuric acid in uri...	OMIM:606054
Maple Syrup Urine Disease	Lactic acidosis, Increased level of hippuric acid in urine, Elevated plasma branched chain amino ...	OMIM:248600
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Stage 5 chronic kidney disease, Lactic acidosis, Lacticaciduria, Increased serum...	OMIM:618250
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Bloody diarrhea, Enterocolitis, Jejunal atresia, Hematochezia, Intestinal malrotation, Colonic at...	OMIM:243150
Immunodeficiency 87 And Autoimmunity	Recurrent fungal infections, Persistent EBV viremia, Atrophic gastritis, Necrotizing enterocoliti...	OMIM:619573
Immunodeficiency 84	Persistent EBV viremia, Recurrent bacterial infections, Perianal abscess	OMIM:619437
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis	OMIM:618246
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis	OMIM:618236
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Recurrent bronchitis, Recurrent lower respiratory tract infection...	OMIM:613501
Combined Oxidative Phosphorylation Deficiency 38	Increased serum lactate, Hyperalaninemia, Lactic acidosis	OMIM:618378
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti...	ORPHA:91500
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract ...	OMIM:608184
Immunodeficiency With Hyper-Igm, Type 2	Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Recurrent...	OMIM:605258
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Short stature, Stage 5 chronic kidney d...	OMIM:309000
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylg...	OMIM:210200
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Lactic acidosis, Hypercholesterolemia	OMIM:306000
Pancreatic Colipase Deficiency	Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Duodenal Atresia	Duodenal atresia	OMIM:223400
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Metabolic alkalosis, Increased urinary cortisol level, Acne	ORPHA:786
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Lactic acidosis, Hydronephrosis	OMIM:618240
Glycogen Storage Disease Ic	Hyperuricemia, Chronic pancreatitis, Hematuria, Stomatitis, Lactic acidosis, Gout, Inflammation o...	OMIM:232240
Adenosine Monophosphate Deaminase Deficiency	Increased serum lactate, Elevated creatine kinase after exercise	ORPHA:45
Osteootohepatoenteric Syndrome	Hypokalemia, Grade II vesicoureteral reflux, Increased serum bile acid concentration, Proteinuria	OMIM:619377
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Glomerulopathy, Hyponatremia, Hypercholesterolemia, Nephrolithiasis, Periodontitis...	ORPHA:534
Lactic Acidosis, Chronic Adult Form	Chronic lactic acidosis, Hyperuricemia	OMIM:150170
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hyperbilirubinemia, Dicarboxylic aciduria, Lacticaciduria, Lactic...	OMIM:613070
Adrenocortical Carcinoma	Hypokalemia, Abnormality of urine homeostasis, Increased urinary cortisol level	ORPHA:1501
Immunodeficiency, Common Variable, 2	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:240500
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Late-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556037
Chromosome 14Q11-Q22 Deletion Syndrome	Gastroesophageal reflux, High palate, Renal tubular acidosis, Macroglossia, Growth delay, Proport...	OMIM:613457
Immunodeficiency 27B	Recurrent mycobacterial infections, Salmonella osteomyelitis, Osteomyelitis, Recurrent mycobacter...	OMIM:615978
Combined Oxidative Phosphorylation Deficiency 18	Increased serum lactate, Methylmalonic aciduria, Lactic acidosis	OMIM:615578
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased serum lactate, Lactic acidosis	ORPHA:139485
Scalp-Ear-Nipple Syndrome	Renal hypoplasia, Renal insufficiency, Pyelonephritis, Unilateral renal agenesis	OMIM:181270
Type 1 Diabetes Mellitus	Polyuria, Ketoacidosis, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Scorpion Envenomation	Myocarditis, Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Increased circulating NT-pr...	ORPHA:466677
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, R...	ORPHA:90795
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hyperglycinemia, Hypertaurinemia, Lactic acidosis, Lacticaciduria, Elevated lactate:pyruvate rati...	OMIM:245400
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lactic acidosis	OMIM:618228
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Pulmonary embolism, Unconjugated hyperbilirubinemia, Hemosiderinuria, ...	ORPHA:447
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Ethylmalonic aciduria	OMIM:602473
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media	OMIM:300455
Vascular Hyalinosis	Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea	OMIM:277175
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Disseminated molluscum contagiosum, Bronchiectasis, Eosinophilic infiltration of the esophagus, R...	OMIM:243700
Glycogen Storage Disease Ib	Hyperuricemia, Enlarged kidney, Lactic acidosis, Gout, Inflammation of the large intestine, Recur...	OMIM:232220
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta...	ORPHA:331235
Rabson-Mendenhall Syndrome	Increased C-peptide level, Diabetic ketoacidosis, Hypokalemia, Long penis, Recurrent infections, ...	ORPHA:769
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Vomiting, Diarrhea, Villous atrophy, Steatorrhea, Renal cyst, Protein-losin...	OMIM:602579
Necrotizing Enterocolitis	Neonatal sepsis, Acidosis, Increased serum lactate, Hyponatremia, Peritonitis, Metabolic acidosis	ORPHA:391673
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My...	ORPHA:423
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Pyloric stenosis, Nephrolithiasis, Postnatal growth retardation	OMIM:617219
Immunodeficiency With Hyper-Igm, Type 5	Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections, Epididymitis	OMIM:608106
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Lac...	ORPHA:391428
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis	ORPHA:1369
Hypercholanemia, Familial 1	Fat malabsorption, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Diarrhea 4, Malabsorptive, Congenital	Hyperchloremic metabolic acidosis	OMIM:610370
Combined Oxidative Phosphorylation Deficiency 20	Hyperalaninemia, Lactic acidosis	OMIM:615917
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Lactic acidosis, Increased serum lactate, Abnormality of medullar...	ORPHA:79243
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Esophageal ulceration, Decreased serum thromboxane B2, Abnormal circulating eicos...	OMIM:618372
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Prostatitis, Recurrent ur...	OMIM:307200
Mitochondrial Complex I Deficiency, Nuclear Type 17	Increased serum lactate, Lactic acidosis	OMIM:618239
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Growth delay, Rectal pol...	ORPHA:329971
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Chronic sinusitis, Recurrent otitis media	OMIM:613502
Diarrhea 10, Protein-Losing Enteropathy Type	Metabolic acidosis, Renal dysplasia, Polyuria, Recurrent upper respiratory tract infections, Hypo...	OMIM:618183
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis	OMIM:615440
Autosomal Dominant Cutis Laxa	Bronchiectasis, Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis, Bronchiolitis	ORPHA:90348
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ...	ORPHA:228308
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Micropenis, Lactic acidosis	OMIM:618815
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Pyloric stenosis, Intestinal malrotation, Intesti...	OMIM:300048
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556030
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Renal salt wasting, Hyponatremia	OMIM:614736
Combined Oxidative Phosphorylation Deficiency 36	Increased serum lactate, Hyperalaninemia, Aciduria	OMIM:617950
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Hyperalaninemia, Ketonuria, Increased urine alpha-ketoglutarate c...	OMIM:619355
Adult Acute Respiratory Distress Syndrome	Diabetic ketoacidosis, Pneumonia, Pancreatitis, Sepsis, Metabolic acidosis	ORPHA:70578
Monocarboxylate Transporter 1 Deficiency	Ketoacidosis, Ketonuria	OMIM:616095
Agammaglobulinemia 6, Autosomal Recessive	Conjunctivitis, Recurrent bronchitis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumo...	OMIM:612692
Mitochondrial Complex I Deficiency, Nuclear Type 5	Increased serum lactate, Lactic acidosis, Metabolic acidosis	OMIM:618226
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Sudden Cardiac Failure, Infantile	Myocarditis, Metabolic acidosis	OMIM:617222
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Duodenal atresia, Growth delay, Intrauterine growth retardation	OMIM:617784
Coenzyme Q10 Deficiency, Primary, 5	Increased serum lactate, Hyperalaninemia, Lactic acidosis	OMIM:614654
Marburg Hemorrhagic Fever	Maculopapular exanthema, Severe infection, Skin rash, Hypokalemia, Arthritis, Abnormality of acid...	ORPHA:99826
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninemia, Methylmalonic acidemia, Cyst...	OMIM:277400
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased serum lactate, Lactic acidosis, Metabolic acidosis	ORPHA:70472
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia, Decreased nasal nitric oxide, Chronic sinusitis	OMIM:619608
Combined Oxidative Phosphorylation Deficiency 47	Increased serum lactate, Metabolic acidosis	OMIM:618958
Systemic Lupus Erythematosus	Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis	OMIM:152700
Hypomagnesemia 6, Renal	Hypomagnesemia, Impaired renal tubular reabsorption of magnesium	OMIM:613882
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis	OMIM:618229
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Polycystic kidney d...	ORPHA:26791
Methylmalonic Aciduria, Cblb Type	Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Metab...	OMIM:251110
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k...	ORPHA:228302
Ethylene Glycol Poisoning	Renal insufficiency, Decreased urine output, Renal tubular epithelial necrosis, Hyperkalemia, Hem...	ORPHA:31826
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Intermittent lactic acidemia, Increased urinary glycerol, Lactic ...	ORPHA:348
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Hypophosphatemia, Generalized aminoaci...	OMIM:613388
Alport Syndrome	Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation...	ORPHA:63
Immunodeficiency, Common Variable, 1	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:607594
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis	OMIM:619065
Developmental And Epileptic Encephalopathy 82	Increased serum lactate, Hyperammonemia, Recurrent infections	OMIM:618721
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Delayed puberty, Short stature, Postnatal growth retardation	OMIM:618985
Alagille Syndrome 1	Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla...	OMIM:118450
Immunodeficiency 44	Increased serum lactate, Severe viral infection, Post-vaccination measles	OMIM:616636
Myh9-Related Disease	Nephropathy, Renal insufficiency, Nephritis, Proteinuria	ORPHA:182050
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Metabolic acidosis, Lactic acidosis	OMIM:616501
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
3-Hydroxyisobutyric Aciduria	Lactic acidosis	ORPHA:939
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis	OMIM:259730
Mitochondrial Complex I Deficiency, Nuclear Type 36	Increased serum lactate, Hyperalaninemia, Recurrent lower respiratory tract infections, Hyperprol...	OMIM:619170
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Combined Oxidative Phosphorylation Deficiency 2	Increased serum lactate, Lactic acidosis	OMIM:610498
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Lactic acidosis, Hypoalbuminemia	OMIM:618805
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu...	OMIM:603860
Plasminogen Deficiency, Type I	Conjunctivitis, Periodontitis, Nephritis, Recurrent upper respiratory tract infections, Decreased...	OMIM:217090
Purine Nucleoside Phosphorylase Deficiency	Recurrent opportunistic infections, Recurrent urinary tract infections, Increased circulating gua...	OMIM:613179
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Postinfectious Vasculitis	Severe Epstein Barr virus infection, Recurrent Staphylococcus aureus infections, Elevated haptogl...	ORPHA:48435
Neuroleptic Malignant Syndrome	Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Aspiration pneumonia, Acute kidney injury...	ORPHA:94093
Glutaric Acidemia I	Metabolic acidosis, Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria	OMIM:231670
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Increased serum pyruvate	OMIM:619224
Combined Oxidative Phosphorylation Deficiency 19	Metabolic acidosis, Lactic acidosis, Lacticaciduria	OMIM:615595
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
Methylmalonic Aciduria, Cbla Type	Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Metab...	OMIM:251100
Birk-Landau-Perez Syndrome	Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Hyperkalemia, Hyperechogenic kidney...	OMIM:617595
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