Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mmut mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... OMIM:613090
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
Hypomagnesemia 3, Renal
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... OMIM:248250
Hyperlysinuria With Hyperammonemia
Growth delay, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Hyperlysinemia OMIM:238750
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Failure to thrive, Hy... OMIM:602522
Dent Disease 2
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... OMIM:300555
Bartter Syndrome, Type 3
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypokalemic metabolic alkalosis, Hy... OMIM:607364
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hypoargininemia, Episodic ammonia intoxication, Hyperammonemia ORPHA:147
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Failure to thrive... ORPHA:18
Saccharopinuria
Hypercystinemia, Short stature, Cystinuria, Abnormality of circulating enzyme level, Hyperammonem... ORPHA:3124
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Increased serum lactate, Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypospadias, Short stature, Failure to thrive, Increased serum lactate, Hyperammonemia, 3-Methylg... OMIM:604273
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Hypokalemia, Nephrocalcinosis, Failure to thrive, Metabolic acidosis, Hypercalciuri... OMIM:602722
Bartter Syndrome, Type 1, Antenatal
Short stature, Hyperprostaglandinuria, Renal potassium wasting, Hyperaldosteronism, Renal salt wa... OMIM:601678
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Abnormal circulating leucine concentration, Organic aciduria, Hyper... ORPHA:6
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketoacidosis, Episodic ketoacidosis, Increased serum lactate, Hyperammonemia, Lactic acidosis OMIM:615453
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hyp... OMIM:613388
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ketoacidosis, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia, ... OMIM:618120
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketoacidosis, Respiratory alkalosis, Increased serum lactate, Hyperalaninemia, Hyperammonemia, Me... OMIM:615751
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Hypomagnesemia, Recurrent urinary tract... OMIM:248190
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Nephrocalcin... OMIM:241200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Increased serum lactate, Hyperalaninemia, Hyperammonemia, Elevated cir... OMIM:615160
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... OMIM:615862
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentration, He... OMIM:614817
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Intrauterine growth retardation, Failure to thrive, Duplicated collecting system,... OMIM:617093
Combined Malonic And Methylmalonic Aciduria
Dehydration, Ketoacidosis, Methylmalonic aciduria OMIM:614265
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria OMIM:239199
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Growth delay, Nephrocalcinosis, Failure to thrive, ... ORPHA:2088
Pyruvate Dehydrogenase E3 Deficiency
Hyperisoleucinemia, Failure to thrive, Increased serum lactate, Increased urine alpha-ketoglutara... ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Elevated gamma-glutamyltransferase... OMIM:614582
Primary Fanconi Renotubular Syndrome
Hyperchloremic metabolic acidosis, Hypophosphatemia, Proximal renal tubular acidosis, Hyperuricos... ORPHA:3337
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Short stature, Abnormality of Krebs cycle metabolism, Abnorma... ORPHA:31
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity, Hypermagnesiuria ORPHA:34527
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Intrauterine growth retardation, Micropenis, Postnatal growth retarda... OMIM:614732
Developmental And Epileptic Encephalopathy 82
Decreased body weight, Increased serum lactate, Short stature, Hyperammonemia OMIM:618721
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:28
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Acidosis, Microscopic hematuria, Proteinuria,... OMIM:137950
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, Increased serum lactate, Hyperammonemia, 3-Methylglutaconic aciduria, Lactic a... OMIM:614739
East Syndrome
Metabolic alkalosis, Renal sodium wasting, Hypokalemia, Enuresis, Hypomagnesemia, Hyperaldosteron... ORPHA:199343
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Short stature, Decreased glomerular filtration rate, Nephrolithias... OMIM:601198
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Failure to thrive, Lactic acidosis, Episodic ketoacidosis, Aminoaciduria OMIM:236795
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Elevated circulating creatine kinase concentration, Increased serum lactate, Short stature OMIM:616209
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Proximal tubulopathy, Weight loss, Lactic acidosis, Aminoaciduria OMIM:612075
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Hyperammonemia OMIM:614111
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Metabolic ketoacido... OMIM:251000
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal respiratory distress, Lacticaciduria, Elevated urinary 4-hydr... OMIM:619003
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic syndrome, Acut... OMIM:612926
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Elevated circulating creatine kinase concentration, Lactic acidosis, Increased serum lactate, Hyp... OMIM:618416
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemic tetany, Nephrocalcinosis, Abnormal renal resorption, Hypokalemic metabolic alkalosis... ORPHA:73224
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophos... OMIM:300009
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Acidosis, Severe short stature OMIM:204730
Propionic Acidemia
Organic aciduria, Hyperammonemia ORPHA:35
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... OMIM:616629
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased serum pyruvate, Increased serum lactate, Increased urine alpha-ketoglutarate concentration OMIM:619224
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal potassium wasting, Renal magnesium ... ORPHA:564178
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Argininosuccinic Aciduria
Oroticaciduria, Short stature, Hyperglutaminemia, Hypoargininemia, Hyperammonemia, Aminoaciduria ORPHA:23
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death, Decreased liver function, Metabolic acidosis, Dehydration OMIM:602199
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Hyperuricemia, Hyperammonemia, Increased level of hippuric acid in urine, 3-Me... OMIM:246450
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Hyperaldosteronism, Metabolic acidosis, Hypercalc... OMIM:613677
Primary Hyperoxaluria Type 1
Calcinosis, Nephrocalcinosis, Hyperoxaluria, Failure to thrive, Hematuria, Decreased glomerular f... ORPHA:93598
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Increased serum lactate, Nephrotic syndrome OMIM:614652
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Dystonia, Abnormal pattern of respiration, Cough, Splenomegaly, Respirat... ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Lactic acidosis, Hepatic steatosis OMIM:615595
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Renal hypoplasia, Chronic tubulointerstitial nephritis, Short stature, Elevated cir... OMIM:614376
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Growth delay, Short stature, Hypophosphatemia, Nephrolithiasis, Increased circ... ORPHA:157215
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness, Lactic acidosis, O... OMIM:617184
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Aminoaciduria, Hypokalemia, Nephrocalcinosi... ORPHA:47159
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Elevated c... ORPHA:85450
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate concentration ORPHA:35878
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Methylmalonic aciduria, Failure to thrive, Decreased methylmalonyl-CoA mutase activ... OMIM:251110
Combined Malonic And Methylmalonic Acidemia
Ketoacidosis, Methylmalonic aciduria, Dicarboxylic aciduria, Acidosis, Elevated hepatic transamin... ORPHA:289504
Alpha-Methylacetoacetic Aciduria
Dehydration, Episodic ketoacidosis OMIM:203750
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria OMIM:612286
Gitelman Syndrome
Growth delay, Hypokalemia, Failure to thrive, Hypokalemic alkalosis, Delayed puberty, Hypomagnese... OMIM:263800
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dehydration, Dicarboxylic aciduria, Pulmonic stenosis ORPHA:79159
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Organic aciduria, Hyperammonemia ORPHA:79242
Gracile Syndrome
Increased serum iron, Intrauterine growth retardation, Chronic lactic acidosis, Increased circula... OMIM:603358
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Intrauterine growth retardation, Failure to thrive, Lactic acidosis, Abnormal circ... ORPHA:71212
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Methylmalonic aciduria, Failure to thrive, Decreased methylmalonyl-CoA mutase activ... OMIM:251100
Propionic Acidemia
Short stature, Failure to thrive, Hyperglycinemia, Hyperammonemia, Increased level of hippuric ac... OMIM:606054
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... OMIM:607665
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting OMIM:154020
Pyknoachondrogenesis
Stillbirth OMIM:265880
Methylmalonyl-Coa Epimerase Deficiency
Metabolic acidosis, Dehydration, Methylmalonic aciduria, Ketonuria OMIM:251120
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,... ORPHA:89938
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Renal tubular acido... OMIM:255120
Multiple Carboxylase Deficiency
Organic aciduria, Metabolic ketoacidosis, Hyperammonemia ORPHA:148
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal p... OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hyperphosphaturia, Calcinosis, Aminoaciduria, Failure to thrive, Hypophosphatemia,... OMIM:239200
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, Failure to thrive, Hypertyrosinemia, Metabolic acidosis, 4-hydro... OMIM:140350
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hypermethioninemia, Decreased HDL cholester... ORPHA:247598
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketoacidosis, Failure to thrive, Acute hyperammonemia, Hyperglycinuria, Metabolic acidosis, Organ... OMIM:210210
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonem... ORPHA:42
Saccharopinuria
Short stature, Saccharopinuria, Citrullinuria, Hyperlysinuria, Histidinuria, Elevated circulating... OMIM:268700
Familial Renal Glucosuria
Renal tubular dysfunction, Glycosuria, Recurrent urinary tract infections, Nephropathy, Dehydration ORPHA:69076
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Aciduria OMIM:617950
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Abnormality of acid-base homeostasis, Hypomagnesemia... ORPHA:31824
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Growth delay, Failure to thrive, Hypophosphatemia, Renal phosphate was... OMIM:241530
Riboflavin Deficiency
Metabolic acidosis, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration OMIM:615026
Lactase Deficiency, Congenital
Metabolic acidosis, Dehydration OMIM:223000
Citrullinemia, Type Ii, Adult-Onset
Argininosuccinic aciduria, Hyperammonemia, Hypertriglyceridemia, Hyperargininemia, Elevated plasm... OMIM:603471
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Hyperchloremic metabolic acidosis OMIM:610370
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Disproportionat... OMIM:241500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Cardiomyopathy, Respiratory distress, Hepatic steatosis, Increased level o... ORPHA:26792
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Growth delay, Hyperammonemia ORPHA:289916
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum lactate, Respiratory distress, Lactic acidosis, Organic aciduria OMIM:614741
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Elevated hepatic ... OMIM:614480
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia ORPHA:428
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Short stature, Hypokalemic metabolic alkal... OMIM:612780
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Methylmalonic aciduria, Failure to thrive, Homocystinuria, Hematuria, Hemolytic... OMIM:277400
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Episodic metabolic acidosis, Failure to thrive, Ketonuria OMIM:210200
Mitochondrial Complex I Deficiency, Nuclear Type 33
Metabolic acidosis, Intrauterine growth retardation, Hyperammonemia OMIM:618253
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Increased serum lactate, Hyperalaninemia, Hyperprolinemia, Lactic acidosis ORPHA:79246
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Dicarboxylic aciduria, Increased serum lactate, Elevated creatine kinase after... ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Lac... OMIM:610678
Mitochondrial Trifunctional Protein Deficiency
Myoglobinuria, Small for gestational age, Elevated circulating creatine kinase concentration, Fai... OMIM:609015
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Mitochondrial Complex I Deficiency, Nuclear Type 32
Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:618252
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Failure to thrive, Hypoargininemia, Low plasma citrulline, Hyperammonemia,... OMIM:237300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:79312
Systemic Capillary Leak Syndrome
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology ORPHA:188
Isovaleric Acidemia
Ketoacidosis, Hyperglycinuria, Metabolic acidosis, Dehydration, Cerebellar hemorrhage OMIM:243500
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Increased circulating corticosterone... OMIM:610600
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Galactose Epimerase Deficiency
Weight loss, Aminoaciduria, Growth delay ORPHA:79238
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypert... ORPHA:2414
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Hepatic steatosis, Elevated cir... OMIM:619048
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Short stature, Hypophosphatemia, Glycosur... OMIM:134600
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Familial Hyperaldosteronism Type Iii
Metabolic alkalosis, Hypercalciuria, Hypokalemia, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Intrauterine growth retardation, Growth delay, Hyperammonemia, 3-Methylglutaconic ac... ORPHA:1194
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Primary Hyperoxaluria
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Failure to thrive, A... ORPHA:416
Beta-Ketothiolase Deficiency
Ketoacidosis, Weight loss, Increased serum lactate, Hyperuricemia, Hyperammonemia, Metabolic acid... ORPHA:134
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Increased serum lactate, Abnormality of the... ORPHA:391428
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Homocystinuria, Methylmalonic aciduria, Decreased me... OMIM:277410
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Failure to thrive, Hyperglutaminemia, Low plasma citrulline, Hyperammonemi... OMIM:311250
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... OMIM:227810
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Intestinal malrotation, Abnormal liver parenchyma morphology, Abnormal biliary t... ORPHA:3032
Succinic Acidemia
Respiratory distress, Lactic acidosis OMIM:600335
Wolcott-Rallison Syndrome
Hyponatremia, Ketoacidosis, Short stature, Growth delay, Hyperbilirubinemia, Hyperammonemia, Hypo... ORPHA:1667
Enteric Anendocrinosis
Portal hypertension, Dehydration, Hyperchloremic metabolic acidosis, Cholestatic liver disease ORPHA:83620
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal c... OMIM:263200
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Facial edema, Upper airway obstruction, Respiratory d... ORPHA:100057
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu... ORPHA:228308
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Dys... ORPHA:50251
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Failure to thrive, D... OMIM:124000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia ORPHA:2239
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Tubulointerstitial nephritis, Short stature, Multinodular... OMIM:203800
Mitochondrial Dna Depletion Syndrome 17
Acidosis, Low plasma citrulline, Hyperammonemia OMIM:618567
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Increased level of L-glutamic acid in blood, Hyperammonemia OMIM:237310
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Lacticaciduria, Pancreatitis, Increased serum lactate, Hepatic steat... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Increased serum lactate, Hyperalaninemia, Hyperammonemia, Metabo... OMIM:619051
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... ORPHA:449395
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Protein... OMIM:277900
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... OMIM:619468
Citrullinemia, Classic
Oroticaciduria, Respiratory alkalosis, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyp... OMIM:215700
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... ORPHA:60032
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Increased serum lactate, Respir... ORPHA:91130
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Decreased urine output, Tubulointerstitial nephritis, Anuria, Elevated circulating ... ORPHA:340
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Elevated circulating creatinine concentratio... ORPHA:93126
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... OMIM:613845
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Acute Monoblastic/Monocytic Leukemia
Weight loss, Oliguria ORPHA:514
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, Failure to thrive, Abnormal circulating tyrosine concentration, ... ORPHA:2118
Apparent Mineralocorticoid Excess
Intrauterine growth retardation, Decreased circulating renin level, Hypokalemia, Nephrocalcinosis... ORPHA:320
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Small for gestational age, Short stature, H... OMIM:618440
Argininosuccinic Aciduria
Oroticaciduria, Respiratory alkalosis, Hyperglutaminemia, Failure to thrive, Hypoargininemia, Hyp... OMIM:207900
Sepsis In Premature Infants
Small for gestational age, Reversible renal failure, Oliguria, Metabolic acidosis, Decreased body... ORPHA:90051
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Lacticaciduria, Failure to thrive, Abnormal renal tubule morphology, Hepatic failur... ORPHA:255210
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Edema, Recurrent pneumonia, Dehydration OMIM:616069
Cardiogenic Shock
Metabolic acidosis, Elevated circulating creatinine concentration, Increased serum lactate, Oliguria ORPHA:97292
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Incre... OMIM:614052
Galactosemia I
Hypergalactosemia, Aminoaciduria, Hyperchloremic metabolic acidosis, Increased level of galactito... OMIM:230400
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Cardiomyopathy, Supraventricular tachycardia, Respiratory insufficiency, Organic aciduria OMIM:255100
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, Glutar... ORPHA:26791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... OMIM:174000
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Postnatal growth retardation,... OMIM:232700
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Growth delay, Short stature, Glycosuria, Metabolic acidosis, Aminoaciduria, Pr... OMIM:615605
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Hepatic failure OMIM:261650
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level, Acidosis, Hyperaldosteronism OMIM:619406
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... OMIM:614399
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
2P21 Microdeletion Syndrome
Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria, Hypocalcemia, Lactic acidosis ORPHA:163693
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent ... ORPHA:405
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Bradykinesia, Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Failure to thrive, Metabolic acidosis, Hyperaldosteronism, Renal salt... OMIM:264350
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia OMIM:601466
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Increased serum lactate, Metabolic acidosis, Elevated hepatic transaminase, Dehydra... OMIM:618958
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Respiratory distress, Renal insufficiency, Abnormali... OMIM:615993
Pyruvate Carboxylase Deficiency
Growth delay, Hypernatremia, Neonatal hyperbilirubinemia, Lacticaciduria, Increased level of L-gl... ORPHA:3008
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Failure to thrive, Cirrhosis, ... OMIM:617156
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Lysinuric Protein Intolerance
Oroticaciduria, Short stature, Failure to thrive, Stage 5 chronic kidney disease, Truncal obesity... OMIM:222700
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Citrullinemia Type I
Failure to thrive, Elevated plasma citrulline, Respiratory alkalosis, Hyperammonemia ORPHA:247525
Holocarboxylase Synthetase Deficiency
Metabolic acidosis, Organic aciduria, Hyperammonemia OMIM:253270
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Elevated serum 11-deoxycortisol, Failure to thr... ORPHA:556037
Combined Oxidative Phosphorylation Deficiency 43
Elevated circulating creatine kinase concentration, Intrauterine growth retardation, Increased se... OMIM:618851
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... OMIM:611555
Glycogen Storage Disease Xi
Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Incre... OMIM:612933
Hydroxykynureninuria
Metabolic acidosis, Aminoaciduria, Renal tubular dysfunction OMIM:236800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:157
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased serum lactate OMIM:619062
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Elevated hepatic transaminase, Renal tubular acidosis, Ch... OMIM:208085
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Lactic acidosis, Alaninuria, Severe short stature OMIM:202900
Galactosemia Iii
Hepatomegaly, Failure to thrive, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Hypercalciuria OMIM:145980
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Aminoaciduria, Severe short stature ORPHA:2278
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia OMIM:606762
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Dicarboxylic ... OMIM:201475
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Growth delay,... ORPHA:567548
Primary Hyperoxaluria Type 2
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... ORPHA:93599
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, E... OMIM:301045
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine ORPHA:391457
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Renal sodium wasting, Elevated serum 11-deoxycortisol, Failure to thr... ORPHA:556030
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Elevated c... ORPHA:49041
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Short stature, Increased blood urea nitrogen, Membranoproli... ORPHA:251004
Glutaric Acidemia Type 3
Ketoacidosis, Failure to thrive, Glutaric aciduria, Elevated circulating glutaric acid concentrat... ORPHA:35706
Glycerol Kinase Deficiency
Ketoacidosis, Small for gestational age, Short stature, Growth delay, Increased urinary glycerol,... OMIM:307030
Renal Hypoplasia
Hypertension, Hydronephrosis, Abnormality of the ureter, Urethral valve, Pelvic kidney, Glomerulo... ORPHA:93101
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:605809
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress, Lactic acidosis, Increased serum lactate OMIM:604377
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:27
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Microscopic hematuria, Metabolic acidosis, Chronic kidney disease, Hyponatremia... ORPHA:411634
Acquired Partial Lipodystrophy
Glomerulopathy, Hepatic steatosis, Microscopic hematuria, Proteinuria ORPHA:79087
Argininemia
Oroticaciduria, Diaminoaciduria, Hyperammonemia, Postnatal growth retardation, Hyperargininemia OMIM:207800
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Severe short stature, Hyper... OMIM:156400
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Renal salt wasting, Increased circul... OMIM:203400
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentra... OMIM:602088
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Renal cyst, Large for gestational age, Ureteral stenosis, Hypercalciuria OMIM:615398
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Hereditary Leiomyomatosis And Renal Cell Cancer
Renal cell carcinoma, Decreased fumarate hydratase activity OMIM:150800
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... ORPHA:231111
Oxoglutarate Dehydrogenase Deficiency
Metabolic acidosis, Congenital lactic acidosis, Increased serum lactate OMIM:203740
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Eleva... OMIM:616878
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, Cardiomyopathy OMIM:613657
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hyperlipidemia, Short stature, Failure to thrive, Postprandial hyperlactemia, Inter... ORPHA:369
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Hydrops... ORPHA:45452
Hyperlysinemia
Hypoornithinemia, Argininuria, Short stature, Failure to thrive, Cystinuria, Hyperammonemia, Hype... ORPHA:2203
3-Methylglutaconic Aciduria, Type Ix
Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence, Increased serum lactate OMIM:617698
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Severe lactic acidosis, Abnormality of the liver, Respiratory distress, Ventilator ... ORPHA:254864
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Interstitial Lung And Liver Disease
Aminoaciduria, Failure to thrive, Hyperammonemia, Lactic acidosis, Intraalveolar phospholipid acc... OMIM:615486
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute kidney injury, Acute infectious pneumonia, Chronic ... ORPHA:140896
Transient Neonatal Diabetes Mellitus
Abnormality of the urinary system, Diabetic ketoacidosis, Dehydration, Abnormality of the kidney ORPHA:99886
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Short stature OMIM:610717
Microscopic Polyangiitis
Glomerulopathy, Hematuria, Renal insufficiency, Oliguria ORPHA:727
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Lujo Hemorrhagic Fever
Microscopic hematuria, Oliguria, Metabolic acidosis, Elevated circulating C-reactive protein conc... ORPHA:319213
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction... OMIM:220110
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Eczema, Tubulointerstitial nephritis, Hepatitis, Splenomegaly, Gas... ORPHA:37042
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, Hepatomegaly, Neonatal respiratory distress, Incre... OMIM:619053
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Incre... ORPHA:2364
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Growth delay, Failure to thrive... OMIM:251880
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Weight l... ORPHA:183
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperglutaminemia, Failure to thrive, Hyperalaninemia, Acute hyperammonemia, Hyperammonemia ORPHA:927
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Elevated circulating long ... OMIM:608836
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum lactate, Respiratory insufficiency ORPHA:238329
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Hepatocellular carcinoma, Panacinar emphysema, Cirrhosis... OMIM:613490
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea, Elevated urinary 3-hydroxybutyric acid, Episodic ketoacidosis, Ketonuria OMIM:245050
3-Methylglutaconic Aciduria Type 9
Failure to thrive, Slender build, Increased serum lactate, Urinary incontinence, 3-Methylglutacon... ORPHA:505216
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Growth delay, Decreased 3-hydroxyacyl-CoA dehydrogenase... OMIM:231530
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Glomerulopathy, Methylmalonic acidemia, Intrauterine grow... ORPHA:79282
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency ORPHA:220393
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Hyperox... OMIM:167030
Preeclampsia
Intrauterine growth retardation, Small for gestational age, Chronic kidney disease, Elevated circ... ORPHA:275555
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased serum lactate, Hyperglycinemia, Lacticaciduria OMIM:619063
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Growth delay, Failure to thrive, Decreased urinary potassium, Proxima... ORPHA:427
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating creatine kinase concentration, Increased serum lactate, Elevated circulating... ORPHA:480864
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness, P... OMIM:300580
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Short stature, Nephrocalcinosis, Glycosuria, Large for gestation... OMIM:616026
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Growth delay, Failure to thrive, Metabolic acidosis, Aminoaciduria OMIM:220120
Renal Tubular Acidosis, Proximal
Renal tubular acidosis, Proximal renal tubular acidosis, Short stature, Hyperchloremic acidosis OMIM:179830
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding ORPHA:3325
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Stage 5 chronic kidney di... OMIM:600995
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Intrauterine growth retardation, Glutaric aciduria... OMIM:610198
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Dicarboxylic aciduria, Hyperammonemia OMIM:212138
Carnitine Deficiency, Systemic Primary
Failure to thrive, Decreased plasma carnitine, Hyperammonemia OMIM:212140
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Failure to thrive, Increased serum lactate, Hyperalaninemia, Metabolic... OMIM:614702
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Short stature, Methylmalonic aciduria, Elevated circulating creatine kinase concentrati... ORPHA:1933
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Hypokalemia, Nephrocalcinosis, Failure to thrive, Short statur... OMIM:611590
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Proximal tu... OMIM:231680
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Renal salt wasting OMIM:614736
Chronic Hiccup
Dehydration ORPHA:396
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Increased serum lactate, Hyperuricemia, Hyperammonemia, 3-Methylglutaric aciduria, M... ORPHA:20
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Growth delay, Lactic acidosis, Increased serum lactate OMIM:616111
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate OMIM:618855
Glucose/Galactose Malabsorption
Metabolic acidosis, Hypertonic dehydration, Glycosuria OMIM:606824
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Metabolic acidosis, Increased serum lactate OMIM:615158
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive OMIM:618234
Sengers Syndrome
Growth delay, 3-Methylglutaconic aciduria, Exercise-induced lactic acidemia, Increased serum lactate OMIM:212350
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Abnormality of the urinary system, Cough, Inability to walk, Respiratory failure, Dysp... ORPHA:90117
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Hypovolemic shock, Cough, Cholelithiasis, Metabolic acidosis, Dehydration, Arrhythmia ORPHA:171876
Cystinuria
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... OMIM:220100
Mu-Heavy Chain Disease
Weight loss, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Intrauterine growth retardat... ORPHA:255249
Lassa Fever
Oliguria ORPHA:99824
Ddost-Cdg
Short stature, Failure to thrive, Hepatic steatosis, Nephrotic range proteinuria, Elevated hepati... ORPHA:300536
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Respiratory distress, Micropenis, Death in childhood OMIM:615597
Dibasic Amino Aciduria I
Argininuria, Dibasicaminoaciduria, Hyperlysinuria, Ornithinuria OMIM:222690
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Edema, Respiratory distress, Acute pancreatitis, Respirat... ORPHA:178320
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Renal cyst, ... ORPHA:730
Infantile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hyperchloremic metabolic ac... ORPHA:411629
Parathyroid Carcinoma
Hypercalcemia, Nephrocalcinosis, Weight loss, Hypophosphatemia, Renal cyst, Nephrolithiasis, Rena... ORPHA:143
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Lactic acidosis, Increased serum lactate OMIM:614096
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Lactic acidosis, Increased serum lactate, Hyperalaninemia OMIM:617228
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Lactic acidosis, Increased serum lactate, Hyperalaninemia OMIM:616974
Pulmonary Blastoma
Weight loss ORPHA:64741
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum pyruvate, Increased serum lactate OMIM:614055
Lysosomal Acid Lipase Deficiency
Esophageal varix, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lysosomal... OMIM:278000
Developmental And Epileptic Encephalopathy 53
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617389
Primary Dystonia, Dyt4 Type
Gait disturbance, Dysphagia, Torticollis, Laryngeal dystonia, Respiratory distress, Dysdiadochoki... ORPHA:98805
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i... ORPHA:173
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... OMIM:614300
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Increased serum lactate, Growth delay OMIM:617613
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Short stature, Splenomegaly ORPHA:417
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ethylmalonic aciduria, Episodic metabolic acidosis, Failure to thrive OMIM:201470
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Aminoaciduria, Lactic acidosis, Increased serum lactate OMIM:614946
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased serum lactate, Mildly elevated creatine kinase, Short stature ORPHA:457050
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Methylmalonic acidemia, Short stature, Methylmalonic aciduria, Failure to thrive, Homocystinuria OMIM:309541
Biotinidase Deficiency
Organic aciduria, Metabolic ketoacidosis, Hyperammonemia OMIM:253260
Splenoportal Vascular Anomalies
Hyperammonemia OMIM:271500
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
Adrenomyodystrophy
Abnormal intestine morphology, Short stature, Failure to thrive, Abnormality of the urinary syste... ORPHA:977
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Metabolic acidosis, Hypovolemia, Dehydration ORPHA:2290
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Ketoacidosis OMIM:222100
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased urinary copper concentration ORPHA:209919
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Methylmalonic aciduria, Lacticaciduria,... OMIM:245400
Malaria
Respiratory distress, Acute kidney injury, Gait imbalance ORPHA:673
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis ORPHA:79084
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria, Lactic acidosis OMIM:609560
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Metabolic acidosis, ... OMIM:259900
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephro... ORPHA:544482
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Fai... OMIM:256810
Hypophosphatemic Rickets
Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Hypocalc... ORPHA:437
Oromandibular Dystonia
Dysphagia, Lingual dystonia, Torticollis, Laryngeal dystonia, Respiratory distress, Generalized d... ORPHA:93958
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Nephrolithiasis, Parathorm... OMIM:600740
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru... ORPHA:488627
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Renal dysplasia, Elevated circulating... OMIM:616733
Perlman Syndrome
Hepatomegaly, High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Hypoplasia of pe... ORPHA:2849
Combined Oxidative Phosphorylation Deficiency 39
Intrauterine growth retardation, Increased serum lactate OMIM:618397
Leprechaunism
Severe intrauterine growth retardation, Long penis, Hypokalemia, Nephrocalcinosis, Failure to thr... ORPHA:508
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Diarrhea 2, With Microvillus Atrophy
Dehydration OMIM:251850
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... OMIM:145981
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Hyperornithinemia, Hyperammonemia OMIM:238970
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Elevated he... OMIM:201450
Birk-Landau-Perez Syndrome
Renal insufficiency, Hyperechogenic kidneys, Tubulointerstitial nephritis OMIM:617595
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Esophag... ORPHA:370
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cleft palate, Tubulointerstitial nephritis, Short stature, Enuresis, Abnormality of the kidney ORPHA:459061
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Growth delay, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular acidosis, Hyperc... OMIM:604278
Oculocerebrorenal Syndrome Of Lowe
Short stature, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldost... ORPHA:534
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Congenital megaureter, Renal ... ORPHA:369837
Hyperoxaluria, Primary, Type Iii
Calcium oxalate nephrolithiasis, Hyperoxaluria OMIM:613616
Uremic Pruritus
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... ORPHA:94059
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria, Respiratory alkalosis, Failure to thrive, Hyperammonemia, Abnormal circulating ci... ORPHA:415
Tuberculosis
Weight loss ORPHA:3389
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Hyperammonemia OMIM:616457
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Small for gestational age, Failure to thrive, Malabsorption, 3-Methylglut... OMIM:557000
Lethal Recessive Chondrodysplasia
Respiratory distress, Edema, Polyhydramnios ORPHA:1423
Sjogren Syndrome
Xerostomia, Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Lymphedema-Distichiasis Syndrome
Cleft palate, Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections... ORPHA:33001
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Hepatomegaly, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hyperte... ORPHA:422
Cystinosis
Renal tubular dysfunction, Renal insufficiency, Proteinuria, Nephropathy, Aminoaciduria, Portal h... ORPHA:213
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Arthritis, Acute hepatitis, Splenomegaly... ORPHA:905
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Coug... ORPHA:411703
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level, Hypergl... ORPHA:941
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Metabolic acidosis, Hyperphosphatemia, Increased body weight, Bl... ORPHA:94086
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibros... OMIM:619377
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
3-Methylglutaconic aciduria, Lactic acidosis OMIM:614053
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerula... OMIM:223900
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Severe short-limb dwarfism ORPHA:436182
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Hepatomegaly, Intermittent lactic acidemia, Lactic acidosis, Tachycar... ORPHA:348
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Growth delay, Positive ferric chloride test OMIM:229100
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Hyperlipidemia, Failure to thrive, Glycosuria, Ketonuria ORPHA:2089
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Failure to thri... ORPHA:264580
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Gracile Syndrome
Renal Fanconi syndrome, Intrauterine growth retardation, Elevated hepatic iron concentration, Cir... ORPHA:53693
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Acute kidney injury, Oliguria, ... ORPHA:466650
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia, Focal dystonia, Bradykinesia ORPHA:240103
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy,... OMIM:242530
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Celiac d... ORPHA:227982
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia ORPHA:2597
Helix Syndrome
Hypokalemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insufficiency OMIM:617671
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Dyspnea, Renal cyst, Ascites OMIM:174050
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Growth delay, Stage 5 chronic kidney disease, Recurrent urinary tract infections, P... ORPHA:731
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Celiac disease, Aplasia/Hypoplasia of t... ORPHA:227990
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Pyruvate Carboxylase Deficiency
Increased serum lactate, Proximal renal tubular acidosis, Hyperalaninemia, Increased serum pyruva... OMIM:266150
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, Acute infectious pneumo... ORPHA:264675
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Increased serum lactate, Metabolic acidosis OMIM:610090
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Increased serum lactate OMIM:618951
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 25
Failure to thrive, Lactic acidosis, Intrauterine growth retardation OMIM:618246
Mitochondrial Myopathy With Lactic Acidosis
Growth delay, Increased serum lactate, Hyperalaninemia, Postnatal growth retardation, Increased s... OMIM:251950
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
3-Methylglutaconic Aciduria Type 4
Failure to thrive, 3-Methylglutaconic aciduria, Lactic acidosis ORPHA:67048
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Tubulointerstitial fibrosis, Cough, Respiratory distress, Respiratory failure OMIM:263000
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithel... ORPHA:31826
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cough, Cirrhosis, Exertional dyspnea, Decreased DLCO, Dyspnea OMIM:178500
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Lactic acidosis, Growth delay OMIM:615440
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Elevated circulating creatine kinase concentration, Increased serum lactate, I... OMIM:500009
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis, Renal hamartoma, ... ORPHA:99880
Barth Syndrome
Growth delay, Failure to thrive, Intermittent lactic acidemia, 3-Methylglutaconic aciduria, Organ... OMIM:302060
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... ORPHA:35710
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Nonimmune hydrops fetalis, Respiratory insufficiency, Ascit... ORPHA:367
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hepatic fibrosis, Intrauterine growth retardation, Failure to thrive,... OMIM:619487
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Pulmo... OMIM:617300
Rett Syndrome
Failure to thrive, Increased serum pyruvate, Increased serum lactate, Hyperammonemia ORPHA:778
Dopamine Beta-Hydroxylase Deficiency
Nocturia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... ORPHA:230
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Metabolic acidosis, Short stature ORPHA:408
Diabetes Insipidus, Neurohypophyseal, X-Linked
Alkalosis, Hydronephrosis, Polyuria, Hypokalemia OMIM:304900
Biotinidase Deficiency
Organic aciduria, Metabolic ketoacidosis, Hyperammonemia ORPHA:79241
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Failure to thrive, Weight loss, Decreased urinary pota... ORPHA:95409
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Bronchiectasis, Decreased forced ex... OMIM:219700
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Intrauterine growth retardation, Duodenal stenosis, Annular p... ORPHA:2470
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia OMIM:610015
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration, Hematochezia ORPHA:103910
Thyroid Lymphoma
Dysphagia, Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Hypoproteinemia, Growth delay, Hyperlipidemia, Small for gestational age, ... OMIM:256300
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss, Nocturia ORPHA:178029
Rowley-Rosenberg Syndrome
Hypertension, Pulmonary arterial hypertension, Recurrent pneumonia, Aminoaciduria, Atelectasis OMIM:268500
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Increased serum lactate, Short stature OMIM:614947
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Weight loss ORPHA:69077
Martinez-Frias Syndrome
Hypospadias, Pancreatic hypoplasia, Duodenal atresia, Intrauterine growth retardation, Annular pa... OMIM:601346
Combined Oxidative Phosphorylation Deficiency 33