banner
Genes Phenotypes Help, News, Blog

Gene: Rhcg MGI:1888517

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Rhesus blood group-associated C glycoprotein
Synonyms:
N/A

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 Rhcg 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis OMIM:179830
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... OMIM:604278
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Nephrolithiasis OMIM:267300
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis,... OMIM:602722
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:137950
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive OMIM:239199
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea... ORPHA:324525
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo... OMIM:611555
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Fa... OMIM:611590
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... OMIM:266150
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Increased serum lactate, Cryptorchidism, Proximal renal tubular acidosis, Lactic acidosis, Metabo... OMIM:615824
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased serum lactate OMIM:249500
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive OMIM:236795
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis, 3-Methylglutaconic aciduria OMIM:614053
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine ORPHA:391457
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... OMIM:146255
Gracile Syndrome
Increased circulating ferritin concentration, Lactic acidosis, Renal Fanconi syndrome, Elevated h... ORPHA:53693
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia ORPHA:79246
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Acidosis OMIM:204730
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased serum lactate, Alaninuria, Metabolic acidosis OMIM:615158
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Renal tub... ORPHA:431361
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn... OMIM:620152
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine OMIM:231900
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... ORPHA:2118
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Failure to thrive, Abnormal blood ion concentration, Abnormal tubulointerstiti... ORPHA:411629
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... OMIM:241150
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... OMIM:208085
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum lactate, Increased serum pyruvate OMIM:619062
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Metabolic acidosis, Increased le... OMIM:230400
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Abnormal circulating tryptophan concentration ORPHA:79155
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Nephronophthisis 15
Nephronophthisis OMIM:614845
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Monocarboxylate Transporter 1 Deficiency
Ketoacidosis, Ketonuria OMIM:616095
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Failure to thrive, Dicarboxylic aciduria, Ketoacid... ORPHA:289504
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:616209
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Methylmalonic aciduria, Hyperhomocystinemia, Metabolic acidosis, Elevated circulating ... OMIM:251120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:79240
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... ORPHA:264580
Glycogen Storage Disease Xi
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... OMIM:612933
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... OMIM:613090
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena... OMIM:614922
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Metabolic ketoacidosis, Abnormal circulating fatty-acid c... ORPHA:263455
Liddle Syndrome 1
Hypokalemic alkalosis, Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction, Lactic acidos... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate OMIM:618855
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Lactic acidosis, Hypogonadism, Hypocalcemia, Failure to thrive ORPHA:163693
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Transient hyperlipidemia ORPHA:156
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoaciduria, Renal ... ORPHA:436271
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,... OMIM:615471
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Failure to thrive, Hypouricemia, Chronic acidosis, Hyp... OMIM:227810
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia, Vaginal fistula ORPHA:2597
Combined Malonic And Methylmalonic Aciduria
Ketoacidosis, Failure to thrive, Methylmalonic aciduria OMIM:614265
Perrault Syndrome 5
Increased serum pyruvate, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase co... OMIM:616138
Hypokalemic Tubulopathy And Deafness
Acidosis, Renal salt wasting OMIM:619406
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate, Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:614652
Apparent Mineralocorticoid Excess
Small for gestational age, Metabolic alkalosis, Hypokalemia, Failure to thrive, Decreased circula... OMIM:218030
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ... OMIM:603358
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Increased ser... OMIM:619743
Glutaric Acidemia Type 3
Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir... ORPHA:35706
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met... OMIM:615160
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperpro... OMIM:619003
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Apparent Mineralocorticoid Excess
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... ORPHA:320
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Hypoargininemia, Increa... OMIM:615751
Combined Oxidative Phosphorylation Deficiency 43
Increased serum lactate, Small for gestational age, Elevated circulating creatine kinase concentr... OMIM:618851
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum lactate, Increased serum pyruvate OMIM:614055
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Failure to thrive, Oroticaciduria, Hyperammonemia OMIM:616457
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Decreased circulating renin level OMIM:613677
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Kearns-Sayre Syndrome
Lactic acidosis, Renal tubular acidosis, Renal Fanconi syndrome OMIM:530000
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... ORPHA:2364
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphos... ORPHA:94086
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... OMIM:607364
Combined Oxidative Phosphorylation Deficiency 16
Increased serum lactate OMIM:615395
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Failure to thrive OMIM:264350
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Increased serum lactate, Ketoacidosis, Metabolic acidosis, Tubul... OMIM:614582
East Syndrome
Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Increase... ORPHA:199343
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic ... ORPHA:97362
Leigh Syndrome
Increased serum lactate, Ketoacidosis, Lacticaciduria, Methylmalonic aciduria, Generalized aminoa... ORPHA:506
Riboflavin Deficiency
Metabolic acidosis, Lactic acidosis, Dicarboxylic aciduria, Elevated circulating acylcarnitine co... OMIM:615026
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria OMIM:606528
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Severe lactic acidosis OMIM:616111
Tricarboxylic Acid Cycle, Defect Of
Persistent lactic acidosis OMIM:275370
Hawkinsinuria
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... OMIM:140350
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Increased serum lactate, Lactic acidosis, Failure to thrive, Metabolic acidosis ORPHA:91130
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... OMIM:602522
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Metabolic acidosis, Ethylmalonic aciduria, Incr... ORPHA:26792
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidos... OMIM:612075
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Metabolic acidosis, Glycosuria, Aminoaciduria, Low-molecular-weight proteinuria OMIM:615605
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Increased serum lactate, 3-Methylglutaconic aciduria, Failure to thrive, Sl... ORPHA:505216
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Mitochondrial Pyruvate Carrier Deficiency
Lactic acidosis, Organic aciduria, Increased serum pyruvate, Increased serum lactate OMIM:614741
Isolated Glycerol Kinase Deficiency
Metabolic acidosis, Cryptorchidism, Elevated circulating creatine kinase concentration ORPHA:408
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... ORPHA:18
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto... OMIM:615453
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Alkalosis, Hypochlor... OMIM:214700
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp... OMIM:145600
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Bartter Syndrome Type 4
Hyponatremia, Hypokalemic metabolic alkalosis, Failure to thrive, Small for gestational age, Rena... ORPHA:89938
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Increased urine succinate level, Increased serum lactate, Metabolic acidosis, De... OMIM:619048
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Succinic Acidemia
Lactic acidosis OMIM:600335
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased serum lactate, Hyperglycinemia, Lacticaciduria OMIM:619063
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... ORPHA:213
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas... OMIM:619386
Jeune Syndrome
Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic ketoacidosis OMIM:245050
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Increased serum lactate, Failure to thrive, Metabolic acidosis OMIM:610090
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Chronic kidney ... OMIM:613845
Mitochondrial Myopathy, Lethal, Infantile
Lactic acidosis OMIM:551000
Lipoyltransferase 1 Deficiency
Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a... OMIM:616299
Combined Oxidative Phosphorylation Deficiency 36
Increased serum lactate, Hyperalaninemia, Failure to thrive, Aciduria OMIM:617950
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Increased serum lactate, Elevated circulating creatinine concentr... OMIM:617872
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... OMIM:613159
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic alkalosis, Hypomagnesem... ORPHA:358
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Renal salt wasting, Precocious puberty, Cryptorchidism, Hyperkalemia, Failure to th... OMIM:614736
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Glucose/Galactose Malabsorption
Metabolic acidosis, Failure to thrive, Glycosuria OMIM:606824
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Increased serum lac... OMIM:500009
Combined Oxidative Phosphorylation Deficiency 45
Increased serum lactate, Failure to thrive OMIM:618951
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lactic acidosis, Increased serum lactate, Abnormal medullary pyramid morphology, Congenital lacti... ORPHA:79243
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... OMIM:612780
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Increased serum lactate, Nephrolithiasis, Cystinuria, Lactic acid... OMIM:606407
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Hyperammonemia OMIM:614111
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Combined Oxidative Phosphorylation Deficiency 30
Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Hyperalaninemia, Failu... OMIM:616974
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Liddle Syndrome 2
Metabolic alkalosis, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Metabolic alkalosis, Hypokalemia, Decreased circulating renin level OMIM:618126
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Oliguria, Abnormal blood... ORPHA:31824
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive OMIM:203400
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased serum lactate OMIM:619196
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Developmental And Epileptic Encephalopathy 82
Increased serum lactate, Hyperammonemia, Decreased body weight OMIM:618721
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level, Renal... ORPHA:556037
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... OMIM:616026
Multiple Mitochondrial Dysfunctions Syndrome 5
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617613
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... OMIM:222748
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased serum lactate, Mildly elevated creatine kinase ORPHA:457050
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemic metabolic alkalosis, Small for gestational age, Polyuria, Increased... OMIM:601678
Combined Oxidative Phosphorylation Deficiency 48
Increased serum lactate, Lactic acidosis, Failure to thrive OMIM:619012
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype... OMIM:614492
Glycogen Storage Disease 0, Liver
Increased serum lactate OMIM:240600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Decreased circulating renin level, Premature thelarche, Renal salt wasting,... ORPHA:90795
Sulfide:Quinone Oxidoreductase Deficiency
Lactic acidosis, Elevated circulating creatine kinase concentration OMIM:619221
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric ... OMIM:557000
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum lactate, Increased serum pyruvate OMIM:545000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, Lactic acidosis... OMIM:618120
Combined Oxidative Phosphorylation Deficiency 8
Lactic acidosis, Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:614096
Ectopic Aldosterone-Producing Tumor
Metabolic alkalosis, Ovarian neoplasm, Renal cortical adenoma, Hypokalemia, Decreased circulating... ORPHA:231632
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Renal tubular acidosis, Fail... OMIM:613457
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Nephrolithiasis, Proximal renal tubular acido... ORPHA:2785
Combined Oxidative Phosphorylation Deficiency 23
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:616198
Mitochondrial Myopathy With Lactic Acidosis
Increased serum lactate, Lactic acidosis, Elevated serum anion gap, Increased serum pyruvate OMIM:251950
Developmental And Epileptic Encephalopathy 53
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617389
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic ac... OMIM:614702
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani... OMIM:614739
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 28
Increased serum lactate, Increased serum pyruvate, Severe lactic acidosis OMIM:616794
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Abnormal renal corticomedullary differentiation OMIM:616733
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
3-Methylglutaconic Aciduria Type 4
Lactic acidosis, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:67048
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level, Renal... ORPHA:556030
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617069
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria OMIM:618247
3-Methylglutaconic Aciduria, Type I
Metabolic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Metabolic alkalosis, Precocious puberty, Oligozoospermia, Hypok... ORPHA:786
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Lacticaciduria, Hyper... OMIM:605711
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic acid... OMIM:617698
Primary Unilateral Adrenal Hyperplasia
Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231580
Combined Oxidative Phosphorylation Deficiency 6
Increased serum lactate, Increased serum pyruvate OMIM:300816
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... OMIM:618416
Pseudohypoaldosteronism, Type Iie
Metabolic acidosis, Hyperchloremia, Hyperkalemia, Hyperchloremic metabolic acidosis OMIM:614496
Gitelman Syndrome
Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, I... OMIM:263800
Mitochondrial Dna Depletion Syndrome 17
Low plasma citrulline, Acidosis, Hyperammonemia OMIM:618567
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Failure to thrive, Increased serum lactate, Abnormal circulating pyruvate family... ORPHA:255182
Pseudohypoaldosteronism, Type Iia
Hyperchloremic acidosis, Hyperkalemia OMIM:145260
Oxoglutarate Dehydrogenase Deficiency
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis OMIM:203740
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid... OMIM:312170
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Mitochondrial Complex I Deficiency, Nuclear Type 11
Lactic acidosis, Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:618234
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Lactic acidosis, Organic aciduria OMIM:617184
Mitochondrial Complex I Deficiency, Nuclear Type 15
Increased serum lactate, Failure to thrive, Metabolic acidosis OMIM:618237
Cholera
Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Lactic ... ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 29
Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica... OMIM:618250
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Increased serum lactate, Small for gestational age, Elevated circulating creatine kinase concentr... OMIM:619054
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased urinary potassium OMIM:611489
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... ORPHA:534
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Metabolic acidosis, Renal tubular acidosis, Overweight, Failure to thrive OMIM:619575
Familial Hyperaldosteronism Type Iii
Metabolic alkalosis, Hypokalemia, Hypercalciuria ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 38
Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate OMIM:618378
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, A... ORPHA:168558
Mitochondrial Complex I Deficiency, Nuclear Type 23
Increased serum lactate OMIM:618244
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Increased serum lactate, Metabolic acidosis, Hyperammonemia OMIM:620137
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Metabolic acidosis, Myoglobinuria OMIM:602199
Mitochondrial Complex I Deficiency, Nuclear Type 39
Lactic acidosis, Cryptorchidism, Hypospadias, Small for gestational age OMIM:620135
Malignant Hyperthermia, Susceptibility To, 2
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Mitochondrial Complex I Deficiency, Nuclear Type 30
Metabolic acidosis OMIM:301021
Mitochondrial Complex I Deficiency, Nuclear Type 34
Metabolic acidosis, Lactic acidosis OMIM:618776
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Hyperlipidemia, Postprandial hyperlactemia, Failure to th... ORPHA:369
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, A... ORPHA:289548
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Metabolic alkalosis, Hypokalemia, Decreased circulating renin level, Increased urinary potassium ORPHA:231625
Combined Oxidative Phosphorylation Deficiency 31
Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate OMIM:617228
Lactase Deficiency, Congenital
Metabolic acidosis OMIM:223000
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Metabolic acidosis, Increased circulating renin level, Failure to thrive OMIM:177735
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum lactate, Increased serum pyruvate ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 25
Lactic acidosis, Failure to thrive OMIM:618246
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi... OMIM:210210
Mitochondrial Complex I Deficiency, Nuclear Type 6
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Failure to ... OMIM:618228
Pituitary Adenoma 4, Acth-Secreting
Obesity, Nephrolithiasis, Alkalosis, Abdominal obesity, Hypokalemia, Oligomenorrhea OMIM:219090
Mitochondrial Complex I Deficiency, Nuclear Type 13
Metabolic acidosis, Failure to thrive, Acidosis OMIM:618235
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Clitoral hypertrophy, Hypospadias, Renal salt wasting, Female external genitalia in... ORPHA:90791
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic acid... OMIM:604273
Pyridoxal Phosphate-Responsive Seizures
Increased serum lactate, Abnormal circulating tyrosine concentration, Abnormal circulating threon... ORPHA:79096
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Metabolic ac... OMIM:619046
Adenosine Monophosphate Deaminase Deficiency
Increased serum lactate, Elevated creatine kinase after exercise ORPHA:45
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Metabolic acidosis, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Increased serum lactate, Ketonuria, Metabolic acidosis, Renal hypoplasia OMIM:619053
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... OMIM:272300
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of reproductive system physiology, Increased body w... ORPHA:1501
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis OMIM:615630
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemic metabolic alkalosis, Small for gestational age, Polyuria, Increased... OMIM:241200
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Increased serum pyruvate OMIM:619224
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Diabetes Mellitus, Ketosis-Prone
Ketoacidosis OMIM:612227
Malignant Hyperthermia, Susceptibility To, 3
Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,... OMIM:246450
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Nephronophthisis OMIM:602152
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Sengers Syndrome
Premature ovarian insufficiency, Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aci... OMIM:212350
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617070
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Increased serum lactate ORPHA:320360
Cardiomyopathy, Dilated, 2C
Increased serum lactate OMIM:618189
Type 1 Diabetes Mellitus
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Acute Peripheral Arterial Occlusion
Acidosis ORPHA:90064
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Dihydrolipoamide Dehydrogenase Deficiency
Lactic acidosis, Metabolic acidosis, Increased serum pyruvate, Ketoacidosis OMIM:246900
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol... OMIM:210200
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... OMIM:118450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Increased serum lactate, Oroticaciduria, Low plasma citrulline, Hyperammonemia... OMIM:620358
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Combined Oxidative Phosphorylation Deficiency 47
Increased serum lactate, Cryptorchidism, Failure to thrive, Metabolic acidosis OMIM:618958
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Coenzyme Q10 Deficiency, Primary, 2
Elevated lactate:pyruvate ratio, Overweight, Increased serum lactate, Obesity OMIM:614651
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia, Hyperchloremic metabolic acidosis OMIM:614495
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate OMIM:614458
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia OMIM:613882
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 2
Lactic acidosis, Increased serum lactate, Small for gestational age OMIM:610498
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Combined Oxidative Phosphorylation Deficiency 4
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Hyperammonemia OMIM:610678
Isovaleric Acidemia
Ketoacidosis, Metabolic acidosis, Hyperglycinuria OMIM:243500
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,... OMIM:618253
Coenzyme Q10 Deficiency, Primary, 4
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate OMIM:612016
Malonyl-Coa Decarboxylase Deficiency
Lactic acidosis, Elevated urine suberic acid level, Metabolic acidosis, Methylmalonic aciduria OMIM:248360
Combined Oxidative Phosphorylation Deficiency 18
Increased serum lactate, Lactic acidosis, Methylmalonic aciduria OMIM:615578
Neurodegeneration With Brain Iron Accumulation 8
Increased serum lactate OMIM:617917
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... OMIM:263200
Encephalopathy, Ethylmalonic
Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Failure to thrive, Ethylmal... OMIM:602473
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Multiple Mitochondrial Dysfunctions Syndrome 3
Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Beta-amino... OMIM:615330
Combined Oxidative Phosphorylation Deficiency 1
Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis OMIM:609060
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
2,4-Dienoyl-Coa Reductase Deficiency
Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma free carnitine, Fai... OMIM:616034
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis OMIM:259730
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic ac... OMIM:251100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Methylmalonic aci... OMIM:251000
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Metabolic alkalosis, Hypokalemia, Nephrolithiasis, Decreased circulating renin level OMIM:615474
Combined Oxidative Phosphorylation Deficiency 5
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal renal tubu... OMIM:611719
Familial Hyperaldosteronism Type Ii
Metabolic alkalosis, Hypokalemia ORPHA:404
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Hyponatremia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaph... OMIM:201810
Mitochondrial Complex I Deficiency, Nuclear Type 14
Increased serum lactate, Lactic acidosis OMIM:618236
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... OMIM:612073
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Increased serum lactate, Abnormal reproductive system morphology, Lactic acidosis, Metabolic acid... ORPHA:70472
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Pseudo-Torch Syndrome 2
Lactic acidosis, Abnormal renal corticomedullary differentiation OMIM:617397
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Increased serum lactate, Methylma... OMIM:614105
Combined Oxidative Phosphorylation Deficiency 21
Increased serum lactate, Hyperalaninemia, Hyperprolinemia OMIM:615918
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... OMIM:619377
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Increased serum pyruvate OMIM:617668
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased serum lactate, Conjugated hyperbilirubinemia, Hyperkalemia, Metabolic acidosis, Hypoalb... OMIM:618528
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Hyperalaninemia, Metabolic acidosis, Increased serum pyruvate OMIM:245349
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Increased serum lactate, Delayed menarche ORPHA:330050
Beta-Ketothiolase Deficiency
Ketonuria, Ketoacidosis, Increased serum lactate, Hyperammonemia, Weight loss, Metabolic acidosis... ORPHA:134
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis, Hydroureter, Hydronephrosis OMIM:618240
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:613561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Increased serum lactate, Hematuria, Lactic acidosis, Metabolic acidosi... OMIM:617021
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia OMIM:619051
Multiple Mitochondrial Dysfunctions Syndrome 6
Increased serum lactate, Failure to thrive OMIM:617954
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis OMIM:618224
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Patent urac... OMIM:618252
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Precocious puberty, Cryptor... ORPHA:361
D-Glyceric Aciduria
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinuria, Metabol... ORPHA:941
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Increased serum lactate, Lacticaciduria, L... OMIM:613070
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Metabolic acidosis, Hy... OMIM:251110
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc... OMIM:253270
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Metabolic acidosis, Increa... ORPHA:171876
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Increased serum lactate, Hyperalaninemia, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Ethylmalonic Encephalopathy
Lactic acidosis, Failure to thrive, Ethylmalonic aciduria ORPHA:51188
Propionic Acidemia
Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Lactic acidosis, Meta... OMIM:606054
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Lactic acidosis, Increased serum lactate ORPHA:139485
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Metabolic alkalosis, Hypokalemia, Nephrolithiasis ORPHA:369929
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum lactate, Metabolic acidosis, Increased serum pyruvate OMIM:618225
Combined Oxidative Phosphorylation Deficiency 19
Lactic acidosis, Failure to thrive, Metabolic acidosis, Lacticaciduria OMIM:615595
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Increased serum lactate... OMIM:619147
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Increased serum lactate OMIM:615159
Leukodystrophy, Hypomyelinating, 4
Increased serum lactate, Ethylmalonic aciduria OMIM:612233
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... ORPHA:90794
Paganini-Miozzo Syndrome
Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate, Urinary incontinence OMIM:301025
Combined Oxidative Phosphorylation Deficiency 54
Elevated lactate:pyruvate ratio, Hypergonadotropic hypogonadism, Increased serum lactate, Obesity... OMIM:619737
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lactic acidosis, Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:618226
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased serum lactate OMIM:618239
Mitochondrial Dna Depletion Syndrome 19
Increased serum lactate, Hypospadias, Hydrocele testis OMIM:618972
Mitochondrial Complex I Deficiency, Nuclear Type 8
Increased serum lactate, Lactic acidosis OMIM:618230
Microvillus Inclusion Disease
Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology ORPHA:2290
Hsd10 Mitochondrial Disease
Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis OMIM:300438
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Increased serum lactate, Cryptorchidism, Failure to thrive, Metabolic acidosis ORPHA:88639
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Increased serum lactate, Elevated circulating acylcarnitine concentration,... ORPHA:99901
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Glutaric Acidemia I
Ketonuria, Glutaric aciduria, Metabolic acidosis, Elevated circulating glutaric acid concentratio... OMIM:231670
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... OMIM:277400
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Hyperglycinemia OMIM:619059
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia ORPHA:57
Pearson Syndrome
Elevated lactate:pyruvate ratio, Renal insufficiency, Proteinuria, Small for gestational age, Inc... ORPHA:699
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Increased serum lactate, Failure to thrive, Decreased body weight OMIM:619060
Mitochondrial Phosphate Carrier Deficiency
Metabolic acidosis, Lactic acidosis OMIM:610773
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,... ORPHA:69076
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased serum lactate, Metabolic acidosis OMIM:617290
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Hsd10 Disease, Infantile Type
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal concentrat... ORPHA:391428
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Coenzyme Q10 Deficiency, Primary, 5
Lactic acidosis, Hyperalaninemia, Increased serum lactate OMIM:614654
Mitochondrial Complex I Deficiency, Nuclear Type 12
Increased serum lactate OMIM:301020
Mitochondrial Complex I Deficiency, Nuclear Type 36
Increased serum lactate, Hyperalaninemia, Hyperprolinemia OMIM:619170
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemia, Renal a... OMIM:617913
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Acidosis ORPHA:391673
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Small for gestational age, Increased serum lactate, Cryptorchidism, Hyperammonemia, ... OMIM:614052
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la... OMIM:619055
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Elevated circulating creatinine ... OMIM:274150
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Metabolic acidosis, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Increased serum lactate, Obesity, Severe lact... OMIM:615418
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Striatonigral Degeneration, Infantile, Mitochondrial
Increased serum lactate OMIM:500003
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Beta-Ureidopropionase Deficiency
Bifid scrotum, Elevated circulating N-carbamyl-beta-alanine concentration, Increased serum lactat... OMIM:613161
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Decreased female libido, Hypercalcemia, Decreased urinary pota... ORPHA:95409
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Combined Oxidative Phosphorylation Deficiency 32
Lactic acidosis, Increased serum lactate, Horseshoe kidney OMIM:617664
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Increased serum lactate, Mildly elevated creatine kinase ORPHA:663
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac... OMIM:251900
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Metabolic acidosis, Aminoaciduria, Micropenis, Failure to thrive OMIM:220120
Maple Syrup Urine Disease
Lactic acidosis, Increased level of hippuric acid in urine, Elevated circulating branched chain a... OMIM:248600
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Myo... ORPHA:423
Immunodeficiency 44
Increased serum lactate OMIM:616636
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactate OMIM:252011
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Increased ser... OMIM:616878
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Mitochondrial Complex I Deficiency, Nuclear Type 37
Lactic acidosis, Failure to thrive, Increased serum lactate, Hypospadias OMIM:619272
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Lactic acidosis, Aminoaciduria, Failure to thrive OMIM:614520
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Lactic acidosis, H... OMIM:614388
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation OMIM:618541
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Increased serum lactate, Cryptorchidism, 3-Methylglutaconic aciduria ORPHA:496790
Glycogen Storage Disease Ixa1
Lactic acidosis, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Inc... ORPHA:247598
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Increased serum lactate, Elevated circulating acylcarnitine concentration, Lactic acidosis, Abnor... OMIM:615838
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Metabolic acidosis, Hypoalbuminemia... OMIM:618183
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Hyperammonemia ORPHA:289916
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Combined Oxidative Phosphorylation Defect Type 27
Increased serum lactate ORPHA:477774
Pontocerebellar Hypoplasia, Type 6
Increased serum lactate, Failure to thrive OMIM:611523
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hypercalciuri... ORPHA:508
Coenzyme Q10 Deficiency, Primary, 7
Increased serum lactate OMIM:616276
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Cr... OMIM:617053
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Charcot-Marie-Tooth Disease, Type 4K
Increased serum lactate OMIM:616684
Pyruvate Carboxylase Deficiency
Elevated lactate:pyruvate ratio, Hypoglutaminemia, Hyperalaninemia, Hyperglutamatemia, Increased ... ORPHA:3008
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... OMIM:219730
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:26791
Leber Optic Atrophy And Dystonia
Increased serum lactate OMIM:500001
Scorpion Envenomation
Respiratory alkalosis, Abnormality of acid-base homeostasis, Ketonuria, Increased circulating NT-... ORPHA:466677
Leigh Syndrome
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:256000
Combined Oxidative Phosphorylation Deficiency 13
Increased serum lactate OMIM:614932
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Elevated circulating creati... OMIM:607426
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Long penis, Nephrocalcinosis, Diabetic ketoacidosis, Hypoka... ORPHA:769
Spinocerebellar Ataxia With Epilepsy
Increased serum lactate, Hyperalaninemia ORPHA:254881
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Increased serum lactate, Cryptorchidism, Hyperalaninemia, Micropenis OMIM:619847
Glycerol Kinase Deficiency
Increased urinary glycerol, Small for gestational age, Hypertriglyceridemia, Hyperglycerolemia, K... OMIM:307030
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl... ORPHA:73224
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 37
Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalan... OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Metabolic acidosis, Lactic acidosis OMIM:616501
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased serum lactate OMIM:616277
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased serum lactate, Failure to thrive in infancy OMIM:619026
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Neonatal hyperbilirubinemia, Lactic acidosis, Metabolic acidosis, Hyp... ORPHA:348
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Increased serum lactate, Bilateral cryptorchidism, Perineal hypospadias, 3-M... ORPHA:66634
Addison Disease
Hyponatremia, Primary testicular failure, Premature ovarian insufficiency, Decreased female libid... ORPHA:85138
Cerebrooculofacioskeletal Syndrome 1
Metabolic acidosis, Cryptorchidism, Failure to thrive, Small for gestational age OMIM:214150
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Increased serum lactate, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alph... OMIM:620089
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Increased serum lactate, Micropenis, Hydrocele testis, Hypocholesterolemia OMIM:618810
Lysosomal Acid Lipase Deficiency
Hyponatremia, Failure to thrive, Hypertriglyceridemia, Cachexia, Renal salt wasting, Abnormal uri... ORPHA:275761
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... ORPHA:330015
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra... OMIM:619405
Myopathy With Lactic Acidosis, Hereditary
Lactic acidosis, Myoglobinuria, Increased serum lactate, Elevated circulating creatine kinase con... OMIM:255125
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Combined Oxidative Phosphorylation Defect Type 13
Increased serum lactate, Failure to thrive ORPHA:319514
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 14
Lactic acidosis, Aminoaciduria, Increased serum lactate, Elevated hepatic iron concentration OMIM:614946
Fructose-1,6-Bisphosphatase Deficiency
Metabolic acidosis, Increased urinary glycerol OMIM:229700
Diarrhea 12, With Microvillus Atrophy
Metabolic acidosis OMIM:619445
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly... OMIM:616539
Congenital Short Bowel Syndrome
Metabolic acidosis, Failure to thrive OMIM:615237
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Ketoacidosis, Chronic kidney disease, Hyperammonemia, Hypoalbu... ORPHA:1667
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... OMIM:266920
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Lactic acidosis, Increased circulating ferritin concentration, Failure to thrive, Increased serum... OMIM:600462
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Lactic acidosis, Low plasma citrulline, Ketonuria, Renal steatosis OMIM:261680
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... ORPHA:91347
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Male pseudohermaphroditism, Hyperkalemia, Macroorchidism, Ab... ORPHA:90790
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Increased serum lactate, Abnormal circulating creatine kinase concentration, Abnormal circulating... ORPHA:521411
Combined Oxidative Phosphorylation Deficiency 27
Increased serum lactate, Failure to thrive, Hyperammonemia OMIM:616672
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic ac... ORPHA:445038
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Hyperbilirubinemia, Decreased body weight, Abnormality of the male gen... OMIM:614886
Degcags Syndrome
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... OMIM:619488
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Metabolic acidosis, Hyperuricemia, ... ORPHA:469
Developmental And Epileptic Encephalopathy 51
Elevated lactate:pyruvate ratio, Failure to thrive, Increased serum lactate OMIM:617339
Combined Oxidative Phosphorylation Deficiency 24
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... OMIM:616239
Glycogen Storage Disease Ixc
Increased serum lactate, Lactic acidosis, Hypertriglyceridemia OMIM:613027
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum lactate, Increased serum pyruvate ORPHA:1349
Childhood-Onset Spasticity With Hyperglycinemia
Increased serum lactate, Nonketotic hyperglycinemia ORPHA:401866
Combined Oxidative Phosphorylation Deficiency 33
Lactic acidosis, Nephrotic syndrome, Increased serum lactate, Elevated circulating creatine kinas... OMIM:617713
Nelson Syndrome
Increased urinary cortisol level, Hypokalemia, Testicular neoplasm ORPHA:199244
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Lysinuric Protein Intolerance
Failure to thrive, Hypolysinemia, Increased serum lactate, Increased circulating ferritin concent... OMIM:222700
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... OMIM:232240
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Episodic metabolic acidosis, Failure to thrive, Ethylmalonic aciduria OMIM:201470
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, H... OMIM:307800
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate, Increased serum pyruvate OMIM:604377
Fumarase Deficiency
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... OMIM:606812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:616479
Rett Syndrome
Increased serum lactate, Failure to thrive, Increased serum pyruvate, Hyperammonemia ORPHA:778
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Increased serum lactate, Premature ovarian insufficiency, Hypogonadism OMIM:609286
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys OMIM:620047
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria,... OMIM:259900
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Sudden Cardiac Failure, Infantile
Metabolic acidosis OMIM:617222
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Pontocerebellar Hypoplasia, Type 9
Increased serum lactate OMIM:615809
Harel-Yoon Syndrome
Increased serum lactate OMIM:617183
Marburg Hemorrhagic Fever
Renal insufficiency, Abnormality of acid-base homeostasis, Elevated circulating creatine kinase c... ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 7
Increased serum lactate, Failure to thrive OMIM:613559
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Lissencephaly 7 With Cerebellar Hypoplasia
Increased serum lactate OMIM:616342
Neurodegeneration And Seizures Due To Copper Transport Defect
Increased serum lactate, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration,... OMIM:620306
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Elevated ... ORPHA:480864
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Amish Lethal Microcephaly
Metabolic acidosis, Organic aciduria ORPHA:99742
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Increased serum lactate, Hyperammonemia, Weight loss, Metabolic acidosis, 3-Methylglut... ORPHA:20
Methanol Poisoning
Metabolic acidosis, Hyperlipidemia ORPHA:31825
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Increased serum lactate, Spastic/hyperactive bladder ORPHA:137898
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Precocious puberty, Irregular menstruation, D... ORPHA:562
Mitochondrial Complex I Deficiency, Nuclear Type 28
Increased serum lactate, Hyperalaninemia, Failure to thrive OMIM:618249
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... ORPHA:340
Acquired Methemoglobinemia
Acidosis ORPHA:464453
Glycogen Storage Disease Ia
Proteinuria, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Focal segmental glomerulosclerosis... OMIM:232200
Combined Oxidative Phosphorylation Deficiency 3
Elevated lactate:pyruvate ratio, Hyponatremia, Elevated circulating creatine kinase concentration... OMIM:610505
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Increased serum lactate, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:610131
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Oliguria, Metab... ORPHA:90051
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Hypertyrosinemia, Increased serum lactate, Lacticaciduria, Lacti... OMIM:124000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 12
Lactic acidosis, Failure to thrive, Increased serum lactate, Elevated circulating alpha-fetoprote... OMIM:614924
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... OMIM:619573
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hypospadias, Increased serum lactate, Methylmalonic aciduria, Lactic acid... ORPHA:17
Hyperglycinemia, Lactic Acidosis, And Seizures
Lactic acidosis, Increased serum lactate OMIM:614462
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... ORPHA:36234
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Lactic acidosis, Increased serum lactate OMIM:617710
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Metabolic acidosis, Vesicoureteral reflux, Fa... OMIM:615895
Adult Acute Respiratory Distress Syndrome
Metabolic acidosis, Diabetic ketoacidosis ORPHA:70578
Melas
Proteinuria, Hypogonadotropic hypogonadism, Increased serum lactate, Lactic acidosis, Focal segme... ORPHA:550
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Optic Atrophy 11
Increased serum lactate, Mildly elevated creatine kinase OMIM:617302
Late-Onset Isolated Acth Deficiency
Hyponatremia, Premature ovarian insufficiency, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuri... ORPHA:199299
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Cardiogenic Shock
Increased serum lactate, Elevated circulating creatinine concentration, Metabolic acidosis, Oliguria ORPHA:97292
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia, Failure to thrive OMIM:618426
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... OMIM:277900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Increased serum lactate, Seconda... OMIM:157640
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Increased serum lactate ORPHA:438114
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic kidney disease... ORPHA:731
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Mitochondrial Dna-Associated Leigh Syndrome
Multiple glomerular cysts, Increased serum lactate, Low plasma citrulline, Lacticaciduria, Hypera... ORPHA:255210
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased serum lactate OMIM:612949
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia ORPHA:199296
Combined Oxidative Phosphorylation Defect Type 39
Increased serum lactate, Cryptorchidism ORPHA:565624
Congenital Disorder Of Deglycosylation 1
Hyperalaninemia, Elevated circulating alpha-fetoprotein concentration, Heparan sulfate excretion ... OMIM:615273
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Small for gestational age, Precocious puberty, Cryptorchidism, Dilat... ORPHA:2044
Spastic Tetraplegia And Axial Hypotonia, Progressive
Increased serum lactate OMIM:618598
Vici Syndrome
Acidosis, Failure to thrive, Penile hypospadias, Elevated circulating creatine kinase concentration OMIM:242840
3-Methylglutaconic Aciduria, Type Viib
Increased serum lactate, 3-Methylglutaconic aciduria OMIM:616271
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Papillary cystadenoma of the epididymis, Renal cell carcino... ORPHA:892
Vipoma
Hypokalemia, Hypercalcemia, Weight loss ORPHA:97282
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Lactic acidosis, Hype... ORPHA:466650
Lujo Hemorrhagic Fever
Renal insufficiency, Elevated circulating C-reactive protein concentration, Oliguria, Metabolic a... ORPHA:319213
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Lactic acidosis, Increased serum lactate OMIM:617186
3-Methylglutaconic Aciduria, Type Viii
Increased serum lactate, Failure to thrive, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria OMIM:617248
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Hyponatremia, Small scrotum, Hypospadias, Small for gestationa... OMIM:201750
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... ORPHA:544482
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Increased serum lactate, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Failure to... OMIM:203700
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Increased serum lactate OMIM:620275
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lacti... OMIM:220111
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Failure to thrive in infancy, Increased serum lactate, Primary amenorrhea, ... OMIM:619418
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Wars2-Related Combined Oxidative Phosphorylation Defect
Lactic acidosis, Increased serum lactate ORPHA:572798
Autosomal Dominant Progressive External Ophthalmoplegia
Increased serum lactate, Failure to thrive, Elevated circulating creatine kinase concentration, N... ORPHA:254892
Mitochondrial Complex I Deficiency, Nuclear Type 2
Increased serum lactate, Increased serum pyruvate OMIM:618222
Combined Oxidative Phosphorylation Deficiency 29
Increased serum lactate OMIM:616811
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post... OMIM:136140
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased serum lactate ORPHA:70595
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased serum lactate, Mildly elevated creatine kinase, Weight loss OMIM:607459
Combined Oxidative Phosphorylation Deficiency 39
Increased serum lactate OMIM:618397
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Acute Liver Failure
Acidosis, Hyperammonemia, Acute kidney injury, Alkalosis ORPHA:90062
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99829
Combined Oxidative Phosphorylation Defect Type 29
Increased serum lactate ORPHA:478029
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Increased serum lactate OMIM:618321
Combined Oxidative Phosphorylation Deficiency 15
Increased serum lactate, Obesity OMIM:614947
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Lactic acidosis, Failure to thrive, Metabolic acidosis OMIM:256810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Hyperkalemia ORPHA:293978
Proximal Spinal Muscular Atrophy
Metabolic acidosis ORPHA:70
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokale... ORPHA:286
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Increased serum lactate, Conjugated hyperbili... OMIM:619534
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis ORPHA:293987
Cerebrotendinous Xanthomatosis
Increased serum lactate ORPHA:909

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rhcg

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rhcg.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rhcgtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rhcgtm43510(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rhcgtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter