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Gene: Mmut MGI:97239

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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

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 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
Methylmalonic acidemia, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Hyperammonemia, M... 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-
Renal insufficiency, Failure to thrive, 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
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi... OMIM:613090
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia OMIM:238750
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... OMIM:607364
Dent Disease 2
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... OMIM:300555
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Saccharopinuria
Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm... ORPHA:3124
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... ORPHA:18
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc... OMIM:602522
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k... ORPHA:97362
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Metabolic acidosis, Distal renal tub... OMIM:602722
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... OMIM:143880
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... OMIM:601678
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... ORPHA:6
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, ... OMIM:618120
Tiglic Acidemia
Aminoaciduria, Acidosis OMIM:275190
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemic metabolic alkalosis, Increased serum prostaglandin E2, Polyuria, Sm... OMIM:241200
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Postnatal growth retardation, Acidosis, ... OMIM:227810
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met... OMIM:615160
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Respiratory alkalosis, Ketonuria, Increased serum lactate... OMIM:615751
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto... OMIM:615453
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive OMIM:239199
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, Hypomagnesemia,... OMIM:613845
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Generalized aminoaciduria, Hypercalciuria, Nephrocalcino... ORPHA:2088
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchloremic metabo... ORPHA:3337
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal urine alpha-ketoglutarate concentration, Abnormal... ORPHA:31
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:28
Combined Malonic And Methylmalonic Aciduria
Ketoacidosis, Methylmalonic aciduria, Dehydration OMIM:614265
Developmental And Epileptic Encephalopathy 82
Increased serum lactate, Short stature, Hyperammonemia, Decreased body weight OMIM:618721
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Hypercalciuria, Generalized aminoaciduria, Renal... OMIM:613388
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani... OMIM:614739
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... OMIM:137950
East Syndrome
Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Hyperald... ORPHA:199343
Hypocalcemia, Autosomal Dominant 1
Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... OMIM:601198
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
3-Hydroxyisobutyric Aciduria
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive OMIM:236795
Pyruvate Dehydrogenase E1-Beta Deficiency
Lactic acidosis, Hyperammonemia OMIM:614111
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Nonimmune hydrops fetalis,... OMIM:619003
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypokalemic metabolic alkalosis, Abnormal renal tubular resorption, Hypercalciuria, Hyperprostagl... ORPHA:73224
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... OMIM:614732
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Propionic Acidemia
Organic aciduria, Hyperammonemia ORPHA:35
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi... OMIM:210210
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic ac... OMIM:614702
Argininosuccinic Aciduria
Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia ORPHA:23
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Hyperaldosteronism, Decreased circulat... OMIM:613677
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva... OMIM:614480
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Rhizomelia, Short stature, Supernumerary nipple, Proteinuria, Glomerulonephritis, E... OMIM:614376
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Metabolic acidosis, Decreased liver function, Neonatal death, Myoglobinuria OMIM:602199
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Acidosis, Aminoaciduria, Severe short stature OMIM:204730
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro... OMIM:616629
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration... ORPHA:157215
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Metabolic acidosis,... OMIM:246450
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia ORPHA:35878
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Intestinal obstructio... ORPHA:85450
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Hyperammonemia, M... OMIM:251000
Propionic Acidemia
Increased level of hippuric acid in urine, Short stature, Hyperglycinuria, Hyperammonemia, Lactic... OMIM:606054
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El... OMIM:251100
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... ORPHA:1652
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Fai... OMIM:251110
Combined Oxidative Phosphorylation Deficiency 34
Increased serum lactate, Elevated circulating creatinine concentration, Lactic acidosis, Increase... OMIM:617872
Bartter Syndrome Type 4
Hyponatremia, Hypokalemic metabolic alkalosis, Failure to thrive, Small for gestational age, Rena... ORPHA:89938
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Alpha-Methylacetoacetic Aciduria
Episodic ketoacidosis, Dehydration OMIM:203750
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Me... OMIM:615605
Gitelman Syndrome
Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, In... OMIM:263800
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis, Dehydration ORPHA:79159
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic aciduria, Ketoacidosis, Dehydration, Methylmalonic ac... ORPHA:289504
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Chronic lactic acidosis, ... OMIM:603358
Pyknoachondrogenesis
Stillbirth OMIM:265880
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Episodic metabol... OMIM:210200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hyperthreoninemia, Ket... ORPHA:247598
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Holocarboxylase Synthetase Deficiency
Growth delay, Organic aciduria, Hyperammonemia, Weight loss ORPHA:79242
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... ORPHA:71212
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp... OMIM:618416
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Asymptomatic hyperammonemia OMIM:606762
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... OMIM:300554
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidos... OMIM:612075
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Failure to thrive, Homocitrullinuria, Hyperammonemia OMIM:238970
Saccharopinuria
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... OMIM:268700
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hyperammonemia, Growth delay, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Abnormal blood ion conce... ORPHA:31824
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm... OMIM:603471
Autosomal Dominant Hypocalcemia
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria ORPHA:428
Diarrhea 4, Malabsorptive, Congenital
Hyperchloremic metabolic acidosis, Dehydration OMIM:610370
Combined Oxidative Phosphorylation Deficiency 5
Increased serum lactate, Hyperammonemia, Growth delay, Lactic acidosis, Metabolic acidosis, Abnor... OMIM:611719
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp... OMIM:239000
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis,... OMIM:618253
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly, Increased serum lactate, Lactic acidosis, Organic aciduria OMIM:614741
Lactase Deficiency, Congenital
Metabolic acidosis, Dehydration OMIM:223000
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Increased serum lactate, Metabolic acidosis OMIM:615158
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Renal insufficiency, Growth delay, Hyperammonemia ORPHA:289916
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Lactic acidosis, Organic aciduria, Neonatal dea... OMIM:617184
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Increased serum lactate, Metabolic acidosis, Hyperammonemia OMIM:620137
Pyruvate Dehydrogenase Phosphatase Deficiency
Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia ORPHA:79246
Combined Oxidative Phosphorylation Deficiency 4
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Intrauterine growth... OMIM:610678
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemic metabolic alkalosis, Short stature, Polyuria, Renal salt wasting, Elevated serum bica... OMIM:612780
Methylmalonyl-Coa Epimerase Deficiency
Metabolic acidosis, Methylmalonic aciduria, Ketonuria, Dehydration OMIM:251120
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Isovaleric Acidemia
Ketoacidosis, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Metabolic acidosis OMIM:243500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammone... OMIM:620358
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Galactose Epimerase Deficiency
Growth delay, Aminoaciduria, Weight loss ORPHA:79238
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Hemolytic-uremic syndro... OMIM:277400
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased serum lactate, Short stature, Elevated circulating creatine kinase concentration OMIM:616209
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Failure to thrive, Hyperammonemia ORPHA:79312
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Growt... OMIM:610600
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Systemic Capillary Leak Syndrome
Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology ORPHA:188
Fumarase Deficiency
Necrotizing enterocolitis, Increased urine succinate level, Decreased fumarate hydratase activity... OMIM:606812
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My... ORPHA:139402
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Fail... OMIM:237300
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Dysphagia, Cough, Abnormal pattern of respiration ORPHA:77260
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alkalosis, Hypercalciuria, Hypok... ORPHA:251274
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Increased serum lactate,... ORPHA:99901
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, C... ORPHA:50251
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Isolated Atp Synthase Deficiency
Short stature, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hy... ORPHA:254913
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Short stature, Ketoacidosis, Chronic kidney disease, Hyperammo... ORPHA:1667
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... OMIM:212140
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Metabolic acidosis, Cardiomyopathy, Ethylmalonic aciduria, Increased level ... ORPHA:26792
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Short... OMIM:203800
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hyperglutamatemia, Hyperammonemia OMIM:237310
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... OMIM:619048
Apparent Mineralocorticoid Excess
Hypokalemic metabolic alkalosis, Renal insufficiency, Short stature, Abnormal urine sodium concen... ORPHA:320
Enteric Anendocrinosis
Cholestatic liver disease, Hyperchloremic metabolic acidosis, Portal hypertension, Dehydration ORPHA:83620
Succinic Acidemia
Respiratory distress, Lactic acidosis OMIM:600335
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyperalaninemia, In... OMIM:619051
Hawkinsinuria
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... OMIM:140350
Hsd10 Disease, Infantile Type
Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnormal concentrat... ORPHA:391428
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc... OMIM:253270
Mitochondrial Dna Depletion Syndrome 17
Acidosis, Low plasma citrulline, Hyperammonemia OMIM:618567
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Homocystinuria, Decreased methylmalonyl-CoA mutase activi... OMIM:277410
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Abnormality of the kidney, Hyperammonemia, Growth delay, 3-Methylglutaconic aciduria... ORPHA:1194
Citrullinemia, Classic
Failure to thrive, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia int... OMIM:215700
Beta-Ketothiolase Deficiency
Ketonuria, Increased serum lactate, Ketoacidosis, Hyperammonemia, Weight loss, Metabolic acidosis... ORPHA:134
Hawkinsinuria
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... ORPHA:2118
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Elevated circulating creatinine ... OMIM:274150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Short stature, Elevated circulating creatine kinase concentration, Increased serum lactate, Chron... ORPHA:324525
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Increased serum lactate, Lacticaciduria, Lactic acidosis, Alaninur... OMIM:616299
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Increased serum lactate, Metabolic acidosis, Low-output congestive heart fa... ORPHA:91130
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Small for gestational age, Short stature, Hypercalciuria, Mucopoly... OMIM:618440
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Hyperkalemia, Elevated circulati... ORPHA:340
Argininosuccinic Aciduria
Failure to thrive, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia int... OMIM:207900
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619386
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Oliguria, Metab... ORPHA:90051
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Acute Monoblastic/Monocytic Leukemia
Oliguria, Weight loss ORPHA:514
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Abnormality of Krebs cycle metabolism... ORPHA:255210
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w... OMIM:604278
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Failure t... OMIM:264350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutami... OMIM:311250
Lysinuric Protein Intolerance
Failure to thrive, Hypolysinemia, Short stature, Increased serum lactate, Increased circulating f... OMIM:222700
Combined Oxidative Phosphorylation Deficiency 43
Increased serum lactate, Intrauterine growth retardation, Small for gestational age, Elevated cir... OMIM:618851
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Cardiogenic Shock
Increased serum lactate, Elevated circulating creatinine concentration, Oliguria, Metabolic acidosis ORPHA:97292
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Metabolic acidosis, Increased level of L-pyroglutamic acid in urine OMIM:231900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Postnatal... OMIM:617093
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Aminoaciduria, Galac... OMIM:230350
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Increased serum lactate OMIM:619062
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:26791
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic melanin-like lyso... OMIM:208085
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Growth delay, La... OMIM:614052
Hypokalemic Tubulopathy And Deafness
Acidosis, Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria, Growth delay, Lactic acidosis, Hypocalcemia, Failure to thrive ORPHA:163693
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul... ORPHA:157
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Glycogen Storage Disease Xi
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... OMIM:612933
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Jaundice, Intermittent jaun... ORPHA:3111
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia OMIM:601466
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia,... OMIM:232700
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556037
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Renal steatosis OMIM:261650
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Increased serum lactate, Dehydration, Metabolic acid... OMIM:618958
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria OMIM:145980
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, L... OMIM:124000
Galactosemia I
Increased level of galactitol in plasma, Metabolic acidosis, Aminoaciduria, Albuminuria, Galactos... OMIM:230400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Neuromuscular dysphagia, Falls, Respiratory distress ORPHA:240085
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... ORPHA:567548
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Elevated lactate:pyruvate ratio, Postnatal growth retardation, Increased serum lactate, Lactic ac... OMIM:616111
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Elevated lactat... ORPHA:3008
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased serum lactate OMIM:249500
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... ORPHA:556030
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Growth delay, Re... OMIM:615471
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Lactic acidosis, Abnormal concentration of acylcarnitine in the urine ORPHA:391457
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc... ORPHA:251004
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased muscle lipid content, Hepat... OMIM:610717
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Abnormali... ORPHA:254864
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Citrullinemia Type I
Elevated plasma citrulline, Respiratory alkalosis, Failure to thrive, Hyperammonemia ORPHA:247525
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ... OMIM:203400
Argininemia
Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Oroticaciduria OMIM:207800
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Severe short stature, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypopho... OMIM:156400
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum lactate, Respiratory insufficiency ORPHA:238329
Glutaric Acidemia Type 3
Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir... ORPHA:35706
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric ... OMIM:557000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... OMIM:613561
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... OMIM:222748
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia ORPHA:27
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Short stature, Hyperlipidemia, Postprandial hyperlactemia... ORPHA:369
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Organic aciduria, Respiratory insufficiency OMIM:255100
Hereditary Leiomyomatosis And Renal Cell Cancer
Renal cell carcinoma, Decreased fumarate hydratase activity OMIM:150800
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Psoriasiform dermatitis, Hepatitis, Nephrotic sy... ORPHA:37042
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Exerci... OMIM:201475
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... OMIM:616878
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas... OMIM:617595
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Bardet-Biedl Syndrome 16
Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ... OMIM:615993
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta... OMIM:610198
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Hepatic steatosis, Proteinuria ORPHA:79087
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Large for gestational age, Nephrocal... OMIM:616026
Lujo Hemorrhagic Fever
Renal insufficiency, Elevated circulating C-reactive protein concentration, Oliguria, Metabolic a... ORPHA:319213
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... OMIM:615398
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria ORPHA:727
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Increased serum lactate, Nephrolithiasis, Cystinuria, Lactic acidos... OMIM:606407
Combined Oxidative Phosphorylation Deficiency 36
Increased serum lactate, Hyperalaninemia, Failure to thrive, Aciduria OMIM:617950
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Neonatal respiratory distress, Ketonuria, Increased serum lactate, Renal hypoplasia... OMIM:619053
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Hyperammonemia, Lactic acidosis, Aminoaciduria, Failure ... OMIM:615486
Hyperlysinemia
Failure to thrive, Short stature, Argininuria, Hyperammonemia, Cystinuria, Hyperlysinuria, Hypoor... ORPHA:2203
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Failure to thrive, Oroticaciduria, Hyperammonemia OMIM:616457
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Increased se... OMIM:616974
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Myositis, Sinusitis, Ma... ORPHA:183
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Tachypnea, Episodic ketoacidosis, Ketonuria OMIM:245050
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, Increased serum lactate, 3-Methylglutaconic aciduria, Failure to thrive, Sl... ORPHA:505216
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive ORPHA:927
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... OMIM:616829
Idiopathic Copper-Associated Cirrhosis
Increased urinary copper concentration, Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Abnormality of the urinary system, Abnormality of the kidney, Dehydration ORPHA:99886
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... ORPHA:2364
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Short stature, Proteinuria OMIM:616901
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616069
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Increased serum la... OMIM:605711
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... OMIM:277900
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Oliguria ORPHA:220393
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Portal vein thrombosis, Pulmonary embolism ORPHA:82
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased serum lactate, Lacticaciduria, Hyperglycinemia OMIM:619063
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, P... OMIM:300580
Chronic Hiccup
Dehydration ORPHA:396
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,... ORPHA:275555
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... ORPHA:480864
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Low plasma citrulline, Hyperammonemia, Hypoprolinemia, Hypoornithinemia, Intrauter... OMIM:219150
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism ORPHA:3325
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Respiratory insuffici... OMIM:220110
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate OMIM:618855
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Increased serum lactate, Hyperammonemia, Weight loss, Metabolic acidosis, 3-Methylglut... ORPHA:20
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur... ORPHA:1933
Lassa Fever
Oliguria ORPHA:99824
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Glucose/Galactose Malabsorption
Metabolic acidosis, Hypertonic dehydration, Glycosuria OMIM:606824
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... ORPHA:79282
Cholera
Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Lactic ... ORPHA:173
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Decreased 3-hyd... OMIM:231530
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Dehydration, Metabolic acidosis, Hypovolemic shock, Cough, Cholelithiasis, Arrhythmia ORPHA:171876
Ddost-Cdg
Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Failure to thrive, Hep... ORPHA:300536
Pulmonary Blastoma
Weight loss ORPHA:64741
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis OMIM:179830
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic steato... OMIM:278000
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn... OMIM:620152
Malaria
Respiratory distress, Acute kidney injury, Gait imbalance ORPHA:673
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Short stature, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubul... OMIM:611590
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Failure to ... OMIM:614736
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased serum lactate, Short stature, Mildly elevated creatine kinase ORPHA:457050
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria OMIM:222690
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Acidosis, Abnormal blood ion concentration, Abnormal tubulointerstitial morpho... ORPHA:411629
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum pyruvate, Increased serum lactate OMIM:614055
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Glutamate Formiminotransferase Deficiency
Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor... OMIM:229100
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617613
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obs... OMIM:613490
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol... OMIM:615026
Splenoportal Vascular Anomalies
Hyperammonemia OMIM:271500
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l... OMIM:272300
Biotinidase Deficiency
Organic aciduria, Hyperammonemia, Metabolic ketoacidosis OMIM:253260
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal... OMIM:231680
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria, Short stature ORPHA:417
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... ORPHA:178320
Type 1 Diabetes Mellitus
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... ORPHA:534
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Microvillus Inclusion Disease
Hypovolemia, Dehydration, Metabolic acidosis, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Intrauterine growth retardation, Lactic acidosis, Failure to thrive OMIM:615440
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hepatic steatosis, Hydronephrosis OMIM:615996
Gracile Syndrome
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Intrauterine... ORPHA:53693
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Abnormality of the kidney, Cleft palate, Tubulointerstitial nephritis, Enuresis ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 27
Increased serum lactate, Failure to thrive, Hyperammonemia OMIM:616672
Leprechaunism
Postnatal growth retardation, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperald... ORPHA:508
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Conge... ORPHA:369837
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Abnormal pancreas morphol... ORPHA:2849
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... ORPHA:544482
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Respiratory alkalosis, Oroticaciduria, Hyperammonemia, Hyperornithinemia, Failure to thrive, Abno... ORPHA:415
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic acid... OMIM:604273
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria,... OMIM:259900
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Adrenomyodystrophy
Short stature, Megacystis, Abnormality of the urinary system, Abnormal intestine morphology, Fail... ORPHA:977
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... OMIM:223900
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:245400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Lactic acidosis, 3-Methylglutaconic aciduria OMIM:614053
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Abnormal bleeding, Polyhydramnios, Increased serum lactate, Congestive hear... OMIM:616271
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... OMIM:616733
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
3-Methylglutaconic Aciduria, Type Ix
Urinary incontinence, Increased serum lactate, 3-Methylglutaric aciduria, 3-Methylglutaconic acid... OMIM:617698
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Tuberculosis
Weight loss ORPHA:3389
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis, Hepatic steatosis, Hepa... ORPHA:264580
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Cleft... ORPHA:33001
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Dehydration, Renal tubular dysfunction, Am... ORPHA:213
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Combined Oxidative Phosphorylation Deficiency 23
Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Increased serum lactate OMIM:616198
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... OMIM:208540
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... OMIM:612073
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Metabolic acidosis, Hypotension, Dehydration OMIM:620125
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Nocturia, Weight loss ORPHA:178029
D-Glyceric Aciduria
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinuria, Metabol... ORPHA:941
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepat... ORPHA:905
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Apnea, Elevated circulating alanine aminotransferase concentration, Rena... OMIM:261680
Blue Diaper Syndrome
Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphos... ORPHA:94086
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... OMIM:617049
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, Cholestasi... OMIM:619377
2,4-Dienoyl-Coa Reductase Deficiency
Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma free carnitine, Fai... OMIM:616034
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Lead Poisoning
Skin rash, Small for gestational age, Chronic kidney disease, Renal tubular dysfunction, Tubuloin... ORPHA:330015
3-Methylglutaconic Aciduria, Type I
Metabolic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence OMIM:250950
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Failure to thrive ORPHA:2089
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Nonimmune hydrops fetalis, Por... ORPHA:367
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Polycystic liver disease, Renal cyst, Ascites OMIM:174050
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Lactic acidosis, Hype... ORPHA:466650
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:609560
Multiple Mitochondrial Dysfunctions Syndrome 3
Elevated lactate:pyruvate ratio, Lactic acidosis, Metabolic acidosis, Hyperglycinemia, Intrauteri... OMIM:615330
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Intermittent hype... ORPHA:348
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Celiac disease, Iridocyclitis, Xerostomia, Bil... ORPHA:227982
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... OMIM:242530
Mitochondrial Complex I Deficiency, Nuclear Type 26
Increased serum lactate, Metabolic acidosis, Lacticaciduria, Respiratory insufficiency OMIM:618247
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Increased serum lactate, Failure to thrive, Metabolic acidosis OMIM:610090
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth... OMIM:219700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Death in infancy, Hypertyrosinemia, 4-hydrox... OMIM:617156
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... ORPHA:230
Mitochondrial Complex I Deficiency, Nuclear Type 29
Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica... OMIM:618250
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Glucose-Galactose Malabsorption
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... ORPHA:35710
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis OMIM:263000
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Biliary cirrhosis, Hepatitis, Ante... ORPHA:227990
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... OMIM:154230
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hepatic steatosis ORPHA:436182
Interstitial Lung Disease 2
Dyspnea, Cirrhosis, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea OMIM:178500
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Proteinuria... OMIM:619487
3-Methylglutaconic Aciduria Type 4
Lactic acidosis, Failure to thrive, 3-Methylglutaconic aciduria ORPHA:67048
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Oliguria, Stage 5 chronic ... ORPHA:731
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress, Dysphagia ORPHA:240103
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Delayed puberty, Failure ... OMIM:300200
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Increased serum lac... OMIM:500009
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria OMIM:267430
Isolated Glycerol Kinase Deficiency
Metabolic acidosis, Short stature, Elevated circulating creatine kinase concentration ORPHA:408
Combined Oxidative Phosphorylation Deficiency 45
Increased serum lactate, Failure to thrive OMIM:618951
Acute Adrenal Insufficiency
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Renal sal... ORPHA:95409
Familial Renal Glucosuria
Recurrent urinary tract infections, Dehydration, Renal tubular dysfunction, Enuresis, Glycosuria,... ORPHA:69076
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Edema, Dehydration ORPHA:103910
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Tubulointerstitial Nephritis And Uveitis Syndrome
Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoaciduria, Renal Fanc... ORPHA:91500
Friedreich Ataxia
Decreased pyruvate carboxylase activity OMIM:229300
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia OMIM:610015
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Developmental And Epileptic Encephalopathy 53
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617389
Obesity And Hypopigmentation
Hepatic steatosis, Obesity OMIM:620195
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cranioectodermal Dysplasia 1
Hepatomegaly, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnesium wasting, High... OMIM:218330
Mitochondrial Complex I Deficiency, Nuclear Type 23
Growth delay, Increased serum lactate OMIM:618244
Biotinidase Deficiency
Organic aciduria, Hyperammonemia, Metabolic ketoacidosis ORPHA:79241
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Postnatal growth retardation, Increased blood urea nitrogen, Fa... ORPHA:90321
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia, Weight loss ORPHA:69077
Mitochondrial Complex I Deficiency, Nuclear Type 15
Increased serum lactate, Intrauterine growth retardation, Failure to thrive, Metabolic acidosis OMIM:618237
Netherton Syndrome
Ectopic kidney, Asthma, Dehydration, Aminoaciduria, Emphysema, Hydronephrosis ORPHA:634
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Increased serum lactate, Proximal renal tubular acidosis, Lactic acidos... OMIM:266150
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Dehydration, Hepatitis, Cough ORPHA:33110
Rett Syndrome
Increased serum pyruvate, Failure to thrive, Hyperammonemia, Increased serum lactate ORPHA:778
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, T... ORPHA:358
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Renal salt wasting, Hypersplenism,... ORPHA:275761
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... OMIM:115197
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased serum pyruvate, Increased serum lactate, Increased urine alpha-ketoglutarate concentration OMIM:619224
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Ataxia, Tachypnea, Respiratory insufficienc... OMIM:614299
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk OMIM:617977
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated lactate:pyruvate ratio, Elevated circulating creatine kinase concentration... OMIM:610505
Hydroxykynureninuria
Jaundice, Aminoaciduria OMIM:236800
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Mitochondrial Complex I Deficiency, Nuclear Type 25
Lactic acidosis, Intrauterine growth retardation, Failure to thrive OMIM:618246
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Megacystis, Hypernatremia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Hypernatremia, Failure to thrive OMIM:304800
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Gingiva... ORPHA:79
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia ORPHA:2597
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ... ORPHA:2470
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... OMIM:614922
Myopathy And Diabetes Mellitus
Respiratory distress, Inability to walk, Tip-toe gait, Progressive cerebellar ataxia ORPHA:2596
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Trunca... OMIM:211530
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:256100
Cerebrooculofacioskeletal Syndrome 1
Metabolic acidosis, Recurrent pneumonia, Dehydration OMIM:214150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Mitochondrial Complex I Deficiency, Nuclear Type 30
Metabolic acidosis, Intrauterine growth retardation OMIM:301021
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased serum lactate OMIM:619196
Congenital Disorder Of Glycosylation, Type Ip
Hyperammonemia OMIM:613661
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hypophosphatemia OMIM:193100
Mitochondrial Complex I Deficiency, Nuclear Type 34
Metabolic acidosis, Intrauterine growth retardation, Lactic acidosis OMIM:618776
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Dyspnea, Pleural effusion, Pericardial effusion ORPHA:48686
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Lactic ... OMIM:619167
Diffuse Alveolar Hemorrhage
Hematuria, Weight loss, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Hepatic steatosis, Cirrhosis OMIM:606069
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Aggressive behavior, Respiratory insufficiency, Organic aciduria, Dysphagia OMIM:614707
Nipah Virus Disease
Respiratory distress, Anorexia, Cough ORPHA:99825
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Increased serum lactate, Hematuria, Lactic acidosis, Metabolic acidosi... OMIM:617021
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Metabolic acidosis, Dehydration OMIM:620126
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... ORPHA:238459
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy... ORPHA:2038
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Methylma... OMIM:614105
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Acidosis ORPHA:464453
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cho... OMIM:605814
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Increased serum lactate... OMIM:619147
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepatic steatosis, Decr... ORPHA:70472
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la... OMIM:619055
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... ORPHA:70588
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Increased serum lactate OMIM:545000
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Metabolic acidosis, Hypotension, Dehydration OMIM:177735
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Combined Oxidative Phosphorylation Deficiency 48
Increased serum lactate, Lactic acidosis, Failure to thrive OMIM:619012
Orthostatic Hypotension 1
Hypomagnesemia, Nocturia, Increased blood urea nitrogen OMIM:223360
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Growth delay, Lactic acidosis, Hyperuricemia, Hypercholesterolemia OMIM:306000
Malonyl-Coa Decarboxylase Deficiency
Short stature, Methylmalonic aciduria, Lactic acidosis, Metabolic acidosis, Elevated urine suberi... OMIM:248360
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, In... OMIM:615824
Combined Oxidative Phosphorylation Deficiency 8
Lactic acidosis, Failure to thrive, Metabolic acidosis, Increased serum lactate OMIM:614096
Mitochondrial Myopathy With Lactic Acidosis
Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate OMIM:251950
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Reduced carnitine O-palmitoyltransf... ORPHA:228305
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi... ORPHA:75249
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid... OMIM:312170
Harlequin Ichthyosis
Respiratory insufficiency, Sudden cardiac death, Dehydration ORPHA:457
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Increased serum lactate, Small for gestational age, Elevated circulating creatine kinase concentr... OMIM:619054
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis OMIM:616794
Sengers Syndrome
Increased serum lactate, Growth delay, Lactic acidosis, 3-Methylglutaconic aciduria, Exercise-ind... OMIM:212350
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho... OMIM:618913
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Weight los... ORPHA:79078
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough ORPHA:142
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis OMIM:222730
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Increased serum lactate OMIM:300816
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Methioninuria, High palate, Failure to thrive, Homocystinuria, Pancreatitis OMIM:236200
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate OMIM:614458
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cough, Dyspnea, Stridor, Choking episodes, Impaired oropharyngeal ... ORPHA:2004
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617069
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99829
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ... OMIM:610978
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr... ORPHA:653
Infantile Liver Failure Syndrome 2
Hyperammonemia OMIM:616483
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Lactic acidosis, Failure to thrive, Abnormal circulating pyruvate family amino acid concentration... ORPHA:255182
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Atopic dermatitis, Hepatosplenomegaly, Nephrotic ... OMIM:618999
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis, Penile freckling ORPHA:210548
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Congenital Short Bowel Syndrome
Metabolic acidosis, Dehydration OMIM:615237
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adr... OMIM:609981
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Gro... ORPHA:541423
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Primary Sjögren Syndrome
Renal insufficiency, Chronic active hepatitis, Myositis, Glomerulonephritis, Abnormality of the k... ORPHA:289390
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Respiratory distress OMIM:615042
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... OMIM:619355
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramnios ORPHA:596
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting OMIM:613743
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Metabolic acidosis, Respiratory failure, Abnorm... ORPHA:70578
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alk... ORPHA:231625
Reticular Dysgenesis
Dehydration ORPHA:33355
Encephalopathy, Ethylmalonic
Lactic acidosis, Elevated circulating butyrylcarnitine concentration, Failure to thrive, Ethylmal... OMIM:602473
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Edema, Pulmonary embolism, Co... ORPHA:90308
Adrenocortical Carcinoma
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:1501
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Combined Oxidative Phosphorylation Deficiency 18
Increased serum lactate, Intrauterine growth retardation, Lactic acidosis, Methylmalonic aciduria OMIM:615578
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Stress/infection-induced lactic acidosis, Abnormal circulating carnitine conce... ORPHA:431361
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Choanal Atresia
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... ORPHA:137914
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Renal sal... ORPHA:361
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Spl... OMIM:232220
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... OMIM:616433
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Dyspnea, Minimal change glomerulonephri... ORPHA:567546
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia ORPHA:98805
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... ORPHA:210136
Sarcoidosis
Hepatomegaly, Renal insufficiency, Maculopapular exanthema, Portal hypertension, Erythema nodosum... ORPHA:797
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... OMIM:614921
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism... ORPHA:94093
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentration, Abnormal... ORPHA:79096
Combined Oxidative Phosphorylation Deficiency 38
Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate OMIM:618378
Pearson Syndrome
Hydrops fetalis, Dehydration, Renal cyst, Lactic acidosis, Abnormality of the liver, Hepatic stea... ORPHA:699
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Short stature, Hepatosplenomegaly, Hypopituitarism, Hepatic steatosis OMIM:619013
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Medullary Thyroid Carcinoma
Dysphagia, Abnormal liver parenchyma morphology ORPHA:1332
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Respiratory failure, Dysphagia, Loss of ambulation OMIM:620166
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Metabolic alk... ORPHA:231580
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Combined Oxidative Phosphorylation Deficiency 1
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Increased serum lactate, Metabo... OMIM:609060
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Lacticaciduria OMIM:618811
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:617070
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Intestinal perforation, Hematuria, Tubulointerstitial nephritis,... ORPHA:90068
Combined Oxidative Phosphorylation Deficiency 31
Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate OMIM:617228
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Chylomicron Retention Disease
Elevated hepatic transaminase, Growth delay, Fat malabsorption, Steatorrhea, Increased hepatocell... ORPHA:71
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Mitochondrial Complex I Deficiency, Nuclear Type 6
Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Failure to ... OMIM:618228
Folinic Acid-Responsive Seizures
Respiratory distress, Broad-based gait, Ataxia, Apnea, Difficulty walking ORPHA:79097
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Increased serum lactate, Lactic acidosis, Hyp... OMIM:604377
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Increased serum lactate, Hyperprolinemia, Lactic acidosis, Metabolic ac... OMIM:619046
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Respiratory distress, Dyspnea, Difficulty walking, Cough ORPHA:86812
Mitochondrial Complex I Deficiency, Nuclear Type 13
Acidosis, Failure to thrive, Metabolic acidosis OMIM:618235
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Growth delay, Metabolic acidosis, Aminoaciduria, Micropenis, Failure ... OMIM:220120
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Hypercalciuria, Short stature, Renal dysplasia OMIM:300990
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspar... OMIM:256810
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Metabolic acidosis, Hyperv... OMIM:229700
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Postnatal growth retardation, Increased serum lactate, Lactic acidosis, Gro... OMIM:613027
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational... ORPHA:116
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating alkaline phosphatase concentration, Urinary bladder sphincter dysfunction, H... ORPHA:52430
Perrault Syndrome 5
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... OMIM:616138
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... OMIM:160900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Abnormal medullary ... ORPHA:79243
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... ORPHA:29073
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Short stature OMIM:613312
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp... OMIM:145600
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Per... ORPHA:199241
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Marburg Hemorrhagic Fever
Renal insufficiency, Abnormality of acid-base homeostasis, Elevated circulating creatine kinase c... ORPHA:99826
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... OMIM:619743
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Increased serum lactate, Lactic acidosis, Bradycardia, Pulmona... OMIM:619272
Tetanus
Respiratory distress, Elevated urinary norepinephrine level, Tachypnea, Elevated urinary epinephr... ORPHA:3299
Familial Cold Urticaria
Dehydration ORPHA:47045
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Oxoglutarate Dehydrogenase Deficiency
Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis OMIM:203740
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Urethral stricture, Edema, Dehydration, Renal cyst, Aplasia/Hypoplasia of t... ORPHA:79404
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating ... OMIM:620366
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... ORPHA:79259
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Hepatomegaly, Crackles, ... ORPHA:1329
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Polyhydramnios, Fetal ascites, Pericardial effusion, Myo... ORPHA:292
Monocarboxylate Transporter 1 Deficiency
Ketoacidosis, Ketonuria OMIM:616095
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... ORPHA:456312
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... OMIM:619991
Autism, Susceptibility To, 3
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Glutaric Acidemia I
Ketonuria, Glutaric aciduria, Metabolic acidosis, Elevated circulating glutaric acid concentratio... OMIM:231670
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lactic acidosis, Metabolic acidosis, Ketoacidosis OMIM:246900
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kid... ORPHA:330021
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni... OMIM:614034
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Hypospadias, Polyhydramnios, Glandular hypospadias, Neonatal death, Micrope... OMIM:300219
Leukodystrophy, Hypomyelinating, 4
Increased serum lactate, Ethylmalonic aciduria OMIM:612233
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3... ORPHA:445038
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Renal salt wasting, Decreased ... ORPHA:85138
Glycogen Storage Disease Ia
Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Growth delay, Focal segmental glomer... OMIM:232200
Huntington Disease-Like 2
Weight loss ORPHA:98934
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... OMIM:606966
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Aciduria, In... OMIM:203700
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Small for gestational age, Hypospadias, Increased serum lactate, Hyperammonemia, Lacti... OMIM:220111
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Shigellosis
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Cholestasis, Dehydrat... ORPHA:810
Campomelia, Cumming Type
Polycystic liver disease, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Hypovolemia, Dehydration... ORPHA:99885
Polyarteritis Nodosa
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Glutamate-Cysteine Ligase Deficiency
Jaundice, Aminoaciduria, Hepatosplenomegaly ORPHA:33574
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Respirato... ORPHA:308552
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Increased serum lactate ORPHA:320360
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts ORPHA:66637
Ethylmalonic Encephalopathy
Lactic acidosis, Failure to thrive, Ethylmalonic aciduria ORPHA:51188
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Vesicoureteral reflux, Intrauteri... ORPHA:3208
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Short stature, Proteinuria, P... OMIM:208500
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Acute Peripheral Arterial Occlusion
Acidosis ORPHA:90064
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Lactic acidosis, Aminoaciduria, Failure to thrive OMIM:614520
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali... ORPHA:223
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Diarrhea 1, Secretory Chloride, Congenital
Metabolic alkalosis, Polyhydramnios, Alkalosis, Dehydration OMIM:214700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Steatorrhea, Hepa... OMIM:616263
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Acidosis, Hyperkalemia, A... ORPHA:168558
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Increased circulating cortisol level... ORPHA:652
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Large for gestational age, Decreased circulating free fatty acid level, Increased circ... ORPHA:79644
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Pericardial effusion, Shortened PR interval, ... OMIM:261740
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Metabolic acidosis, Hypoalbuminemia, Hypocalcemia, ... OMIM:618183
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Growth del... OMIM:243910
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Hyperkalemia... ORPHA:90791
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis ORPHA:363400
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Tyrosinemia, Type Ii
Hypertyrosinemia, Growth delay, 4-Hydroxyphenylpyruvic aciduria OMIM:276600
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Renal insufficiency, Pneumonia, Edema, Recur... ORPHA:36234
Glycogen Storage Disease 0, Liver
Increased serum lactate OMIM:240600
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Acidosis, Hyperkalemia, A... ORPHA:289548
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Dysphagia ORPHA:89844
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Lamellar Ichthyosis
Renal insufficiency, Dehydration ORPHA:313
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen content, Incre... OMIM:261750
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Hepatic fib... ORPHA:79322
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Short stature, Increased serum lactate, Lactic acidosis, Hyperglycinemia, Hyperalaninemia OMIM:619059
Adenosine Monophosphate Deaminase Deficiency
Increased serum lactate, Elevated creatine kinase after exercise ORPHA:45
Methionine Malabsorption Syndrome
Aminoaciduria, Tachypnea OMIM:250900
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Hypospadias, Abnormal... ORPHA:209905
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Akinesia, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic ac... OMIM:251900
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis OMIM:615980
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Elevated lactate:pyruvate ratio, Increased serum lactate, Obesity OMIM:614651
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Micropenis, Death in childhood OMIM:615597
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Hypercalce... OMIM:194050
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Hypocalcemia, Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Combined Oxidative Phosphorylation Deficiency 2
Lactic acidosis, Increased serum lactate, Small for gestational age OMIM:610498
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:2348
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage ORPHA:2430
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Short stature, Hypospadias, Small for ge... ORPHA:2959
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 14
Increased serum lactate, Growth delay, Lactic acidosis, Aminoaciduria, Elevated hepatic iron conc... OMIM:614946
Mitochondrial Complex I Deficiency, Nuclear Type 5
Increased serum lactate, Growth delay, Lactic acidosis, Metabolic acidosis, Failure to thrive OMIM:618226
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... OMIM:608022
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Atrophic muscularis propria, Weight loss, Macrovesicular... ORPHA:298
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Dicarboxylic ac... OMIM:611126
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Increased serum lactate, Failure to thrive, Short stature, Decreased body weight OMIM:619060
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Elevated circulating aspartate aminotransferase concent... OMIM:617253
Paganini-Miozzo Syndrome
Elevated lactate:pyruvate ratio, Hyperalaninemia, Increased serum lactate, Urinary incontinence OMIM:301025
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios ORPHA:2759
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Coenzyme Q10 Deficiency, Primary, 4
Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate OMIM:612016
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Increased serum lactate, Alpha-aminoadipic aciduria, 3-Methylglutaconic aciduria, Elevated urine ... OMIM:620089
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Abnormality of the liver, Supraventri... ORPHA:97214
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Splenomegaly OMIM:608799
Isaacs Syndrome
Weight loss ORPHA:84142
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Postnatal gr... OMIM:210900
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Abnormal pattern of respiration ORPHA:833
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosp... OMIM:307800
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria OMIM:618857
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Immunodeficiency 47
Elevated hepatic transaminase, Accessory spleen, Hepatomegaly, Failure to thrive, Elevated circul... OMIM:300972
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity OMIM:619351
Coenzyme Q10 Deficiency, Primary, 5
Lactic acidosis, Hyperalaninemia, Increased serum lactate, Intrauterine growth retardation OMIM:614654
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... OMIM:615512
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Pneumonia, Peric... ORPHA:781
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Glycerol Kinase Deficiency
Increased urinary glycerol, Short stature, Hypertriglyceridemia, Small for gestational age, Hyper... OMIM:307030
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... OMIM:619418
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Increased bo... ORPHA:263455
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis OMIM:615994
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... OMIM:309000
Moebius Syndrome
Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia, Micropenis OMIM:157900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Intrauterine growth retardation, Lactic acidosis, Hypospadias OMIM:620135
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis OMIM:245349
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Retinal telangiectasia, Pulmonary embolism, Cholecystitis, Portal hy... ORPHA:774
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate OMIM:617668
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Elevated circula... OMIM:613095
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Weight loss OMIM:181000
Combined Oxidative Phosphorylation Deficiency 37
Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Hyperalan... OMIM:618329
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype... OMIM:614492
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... OMIM:615381
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Proteinuria, Renal cy... OMIM:212065
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... ORPHA:85443
Osteogenesis Imperfecta
Rhizomelia, Small for gestational age, Short stature, Hypercalciuria, Nephrolithiasis, Growth del... ORPHA:666
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Increased serum lactate, Delayed menarche ORPHA:330050
Leigh Syndrome
Increased serum lactate, Ketoacidosis, Lacticaciduria, Generalized aminoaciduria, Methylmalonic a... ORPHA:506
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left ve... ORPHA:57777
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Chitayat Syndrome
Respiratory distress, Polyhydramnios, Tracheomalacia OMIM:617180
Hypophosphatemic Rickets And Hyperparathyroidism
Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Phenylketonuria
Aminoaciduria ORPHA:716
X-Linked Hypophosphatemia
Disproportionate short stature, Renal phosphate wasting, Growth delay, Hypocalciuria, Hypophospha... ORPHA:89936
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Short stature, Renal salt wasting, Long penis, Hypokalemia,... ORPHA:90795
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Increased serum lactate, Hyperalaninemia, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Proteinuria, Splenomegaly, Inability to walk, Recurrent pneum... OMIM:617303
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating creatine kinase concentration, Increased serum lactate, Lactic acidosis, Nep... OMIM:617713
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Multiple Mitochondrial Dysfunctions Syndrome 6
Increased serum lactate, Failure to thrive OMIM:617954
Xfe Progeroid Syndrome
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata... ORPHA:79240
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Akinesia, Splenomegaly, Hepatosplenomegaly, Dysphagia,... OMIM:608013
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Pituitary adenoma, Primary hyperparathyroidism, Nephrolit... ORPHA:189427
Congenital Generalized Lipodystrophy
Hepatomegaly, Polycystic ovaries, Macroglossia, Cirrhosis, Failure to thrive, Hepatic steatosis ORPHA:528
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion ORPHA:3392
Mitochondrial Complex I Deficiency, Nuclear Type 14
Increased serum lactate, Lactic acidosis OMIM:618236
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Panniculitis, Cirrhosis, Hepat... ORPHA:79086
Familial Chylomicronemia Syndrome
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decre... ORPHA:444490
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Increased serum lactate, Metabolic acidosis OMIM:618225
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:54251
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, In... ORPHA:90041
Secondary Short Bowel Syndrome
Cholestasis, Dehydration ORPHA:95427
19P13.12 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Obesity, Cleft palate, Intrauterine growth retardation, Hepatic stea... ORPHA:254346
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Short stature, Micronodular cirrhosis, Obesity, Incr... ORPHA:98907
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Cardiomyopathy, Dilated, 2C
Increased serum lactate OMIM:618189
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Intrahe... ORPHA:97282
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Oromandibular Dystonia
Respiratory distress, Dysphagia, Bruxism ORPHA:93958
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactat... OMIM:252011
Myopathy With Lactic Acidosis, Hereditary
Lactic acidosis, Myoglobinuria, Increased serum lactate, Elevated circulating creatine kinase con... OMIM:255125
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Inability to walk, Gait ataxia, Attention deficit hyperactivi... OMIM:619383
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Igg4-Related Aortitis
Hydronephrosis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Congenital Myasthenic Syndrome
Waddling gait, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency ... ORPHA:98914
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Dehydration, Cardio... ORPHA:2131
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Short stature, Renal agenesis, Small for gestational age, Ectopic k... OMIM:227646
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Acute Liver Failure
Acidosis, Acute kidney injury, Hyperammonemia, Alkalosis ORPHA:90062
Maple Syrup Urine Disease
Lactic acidosis, Increased level of hippuric acid in urine, Elevated circulating branched chain a... OMIM:248600
Episodic Ataxia Type 1
Choreoathetosis, Tip-toe gait, Respiratory distress ORPHA:37612
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Increased serum lactate, 3-Methylglutaconic aciduria, Delayed puberty ORPHA:496790
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis OMIM:618224
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Short statu... ORPHA:98908
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Urinary retention, Weight loss ORPHA:2126
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Lactic acidosis, Increased serum lactate ORPHA:139485
Coenzyme Q10 Deficiency, Primary, 7
Increased serum lactate, Intrauterine growth retardation OMIM:616276
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... ORPHA:17
Microsporidiosis
Sinusitis, Pneumonia, Cholangitis, Myocarditis, Abnormality of the spleen, Peritonitis, Biliary t... ORPHA:2552
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Gly... OMIM:616539
Neurodegeneration With Brain Iron Accumulation 8
Increased serum lactate OMIM:617917
Stt3B-Cdg
Respiratory distress, Micropenis ORPHA:370924
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Prostatiti... ORPHA:449432
Hsd10 Mitochondrial Disease
Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis OMIM:300438
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Edema, Polyhydra... ORPHA:363705
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Castleman Disease
Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight loss, Hematuri... ORPHA:160
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re... OMIM:137920
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased serum lactate, Increased circulating ferritin concentration, Growth delay, Lactic acido... OMIM:600462
Congenital Tufting Enteropathy
Cholestatic liver disease, Dehydration ORPHA:92050
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... ORPHA:3015
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Abnormal pancreas morphology, Hepatic fibr... ORPHA:48818
Erythrokeratodermia Variabilis
Short stature, Weight loss ORPHA:317
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Lactic ... OMIM:607426
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Mitochondrial Complex I Deficiency, Nuclear Type 17
Lactic acidosis, Increased serum lactate OMIM:618239
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor... OMIM:615838
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Renal steatosis, Obesity, Gout, Hepatic steatosis ORPHA:412
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Pedal edema, Cough, Pulmonary ... ORPHA:228116
Combined Oxidative Phosphorylation Deficiency 13
Growth delay, Increased serum lactate OMIM:614932
Combined Oxidative Phosphorylation Deficiency 41
Lactic acidosis, Intrauterine growth retardation, Decreased circulating cortisol level, Elevated ... OMIM:618838
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Hypoventilation, Neonatal respiratory distress, Respiratory distress, Respiratory ... ORPHA:98915
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis, Polycystic ovaries OMIM:604367
Eosinophilic Gastroenteritis
Steatorrhea, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2070
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Short stature, ... ORPHA:261265
Hereditary Fructose Intolerance
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Metabolic acidosis, H... ORPHA:469
Insulin-Resistance Syndrome Type B
Decreased body weight, Proteinuria, Abnormality of body weight, Abnormal circulating fatty-acid c... ORPHA:2298
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Hydroxykynureninuria
Renal tubular acidosis, Abnormal circulating tryptophan concentration, Metabolic acidosis ORPHA:79155
Bone Marrow Failure Syndrome 3
Chromosome breakage, Short stature, Eczema, Pancreatic steatosis, Cryptorchidism, Hyperechogenic ... OMIM:617052
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Increased serum lactate, Obesity, Severe lact... OMIM:615418
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Pancreatic... OMIM:260370
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Patent urac... OMIM:618252
Mitochondrial Complex I Deficiency, Nuclear Type 8
Increased serum lactate, Lactic acidosis OMIM:618230
Mogs-Cdg
Respiratory distress, Hypoventilation, Hepatomegaly, Pulmonary edema, Apnea, Edema, Polyhydramnio... ORPHA:79330
Renpenning Syndrome
Growth delay, Severe short stature, Hypospadias, Cachexia ORPHA:3242
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Aredyld Syndrome
Intrauterine growth retardation, Short stature, Abnormality of the ureter, Cachexia ORPHA:1133
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Bohring-Opitz Syndrome
Bilateral cleft palate, Short stature, Intestinal malrotation, Supernumerary nipple, Mesomelic/rh... OMIM:605039
Combined Oxidative Phosphorylation Deficiency 54
Elevated lactate:pyruvate ratio, Intrauterine growth retardation, Increased serum lactate, Obesity OMIM:619737
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased serum lactate, Metabolic acidosis OMIM:617290
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Urinary incontinence, Congestive heart failure, Respiratory ... OMIM:616482
Shwachman-Diamond Syndrome 2
Hepatomegaly, Short stature, Steatorrhea, High palate, Hyperechogenic pancreas, Failure to thrive... OMIM:617941
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Pyloric stenosis, Splenomegaly, Ileus, Recurrent pne... OMIM:613327
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Restlessness, Respiratory distress, Oral-pharyngeal ... OMIM:615273
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Acidosis ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... OMIM:619525
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... ORPHA:79102
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Scorpion Envenomation
Bundle branch block, Respiratory alkalosis, Edema, Tachypnea, Prominent U wave, Ketonuria, Elevat... ORPHA:466677
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Lactic acidosis, H... OMIM:614388
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Increased serum lactate OMIM:615159
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Hepatomegaly, Polyhydramnios, Elevated hepatic transaminase ORPHA:329178
Pseudohypoaldosteronism, Type Iie
Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia OMIM:614496
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Myo... ORPHA:423
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Growth delay, Increased serum lactate, Failure to thrive in infancy OMIM:619026
Mody
Abnormality of the kidney, Large for gestational age, Overweight, Nephropathy, Hepatocellular ade... ORPHA:552
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Short stature, Intestinal malr... OMIM:613658
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Combined Oxidative Phosphorylation Deficiency 32
Lactic acidosis, Increased serum lactate, Horseshoe kidney OMIM:617664
Mitochondrial Complex I Deficiency, Nuclear Type 12
Increased serum lactate OMIM:301020
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Huntington Disease-Like 2
Weight loss OMIM:606438
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Short stature, Renal salt wasting, Long penis... ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 24
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... OMIM:616239
Lymphoid Interstitial Pneumonia
Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restric... ORPHA:79128
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Mitochondrial Complex I Deficiency, Nuclear Type 36
Increased serum lactate, Hyperalaninemia, Hyperprolinemia OMIM:619170
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Short stature, Increased serum lactate, Hyperalaninemia, Micropenis OMIM:619847
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Increased serum lactate, Mildly elevated creatine kinase ORPHA:663
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Apnea, Hypospadias, Splenomegaly, Concentric hypert... OMIM:252010
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Fetal pyelectasis, Palpebral edema, Polyhydramnios ORPHA:50810
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi... OMIM:620278
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretio... ORPHA:505248
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Cough, Raynaud ph... ORPHA:3260
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Respiratory distress, ... ORPHA:537
Monosomy 13Q34
Growth delay, Fetal pyelectasis, Hepatic steatosis, Obesity ORPHA:96168
Combined Oxidative Phosphorylation Defect Type 13
Increased serum lactate, Intrauterine growth retardation, Failure to thrive ORPHA:319514
Netherton Syndrome
Hypernatremic dehydration, Allergic rhinitis, Asthma, Angioedema, Chronic rhinitis OMIM:256500
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Atelosteogenesis Type I
Rhizomelia, Malrotation of colon, Cleft palate, Neonatal short-trunk short stature, Multiple rena... ORPHA:1190
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis ORPHA:182050
Striatonigral Degeneration, Infantile, Mitochondrial
Increased serum lactate OMIM:500003
Pseudohypoaldosteronism, Type Iia
Hyperchloremic acidosis, Hyperkalemia OMIM:145260
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Short stature, Horseshoe kidney, Growth delay, Hypophosphatemic rickets OMIM:163200
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Farber Disease
Respiratory distress, Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... OMIM:167800
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Teratoma, Pineal
Polyuria OMIM:273120
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Tracheomalacia OMIM:202650
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular u... ORPHA:509
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Growth delay, Metabolic acidosis, Vesicourete... OMIM:615895
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Huntington Disease
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss ORPHA:399
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Thyrocerebroretinal Syndrome
Nephritis, Goiter OMIM:274240
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Polyhydramnios ORPHA:990
Spinocerebellar Ataxia With Epilepsy
Increased serum lactate, Hyperalaninemia ORPHA:254881
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Thyroiditis, ... ORPHA:64744
D-Lactic Aciduria With Gout
Lacticaciduria OMIM:245450
Feingold Syndrome
Short stature, Abnormality of the spleen, Esophageal atresia, Annular pancreas, Duodenal atresia ORPHA:1305
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory insufficiency due to muscle weakness, ... ORPHA:365
Pontocerebellar Hypoplasia, Type 6
Increased serum lactate, Failure to thrive OMIM:611523
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Organic aciduria, Obesity OMIM:620191
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Elevated circulatin... OMIM:619573
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo... ORPHA:99827
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Hypocalcemia, Weight loss ORPHA:47
Tyrosinemia, Type Iii
Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, H... OMIM:276710
Pancreatic Agenesis 2
Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancr... OMIM:615935
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Amish Lethal Microcephaly
Metabolic acidosis, Hepatomegaly, Organic aciduria ORPHA:99742
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Dehydration, Oligohydramnios ORPHA:96191
Pelizaeus-Merzbacher Disease
Short stature, Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop... OMIM:615846
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Combined Oxidative Phosphorylation Defect Type 27
Increased serum lactate ORPHA:477774
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Episodic metabolic acidosis, Failure to thrive, Ethylmalonic aciduria OMIM:201470
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Steatorrhea, Weight loss, Hypocalcemia, Delayed pube... OMIM:212750
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Distal Deletion 12Q
Late onset atopic dermatitis, Unilateral cryptorchidism, Short stature, Failure to thrive in infa... ORPHA:96149
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Polymyositis
Weight loss, Elevated circulating creatine kinase concentration, Abnormal renal tubule morphology ORPHA:732
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypospadias, Polyhydramnios, Edema, Recurrent pneumonia, Micropenis OMIM:607143
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Increased serum lactate, Pneumothorax, Glandular h... OMIM:620306
Leigh Syndrome
Lactic acidosis, Failure to thrive, Increased serum lactate OMIM:256000
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Increased serum lactate, Failure to thrive, Metabolic acidosis ORPHA:88639
Acute Promyelocytic Leukemia
Hematuria, Weight loss ORPHA:520
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Short stature, Postnatal growth retardation,... ORPHA:813
Juvenile Huntington Disease
Weight loss ORPHA:248111
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... ORPHA:1318
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Short stature, Weight loss, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Mic... OMIM:613673
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Jaundice, Abnormal mesentery m... ORPHA:284
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Hyperactivity, Abnormality of the kidney, Impulsivity,... ORPHA:805
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage OMIM:603585
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Diffuse hepatic steatosis, Chronic... ORPHA:746
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:435660
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Increased serum lactate, Micropenis, Hypocholesterolemia OMIM:618810
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Joint swelling, Splenomegaly OMIM:612852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Increased serum lactate, Elevated circulating creatine kinase concentration OMIM:616479
Immunodeficiency 44
Increased serum lactate OMIM:616636
Methanol Poisoning
Metabolic acidosis, Hyperlipidemia ORPHA:31825
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Increased serum lactate, Spastic/hyperactive bladder ORPHA:137898
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Leber Optic Atrophy And Dystonia
Increased serum lactate OMIM:500001
Follicular Lymphoma
Weight loss ORPHA:545
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased serum lactate OMIM:616277
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Short stature, Renal p... ORPHA:289176
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Hyp... ORPHA:199299
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... OMIM:187300
Mccune-Albright Syndrome
Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction, Increased circulating cort... ORPHA:562
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Esophagitis, Intrauterine growth reta... OMIM:615356
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pancreatic fibrosis, Short stature OMIM:615503
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P... OMIM:608594
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Primary Intestinal Lymphangiectasia
Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Dend Syndrome
Dehydration ORPHA:79134
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Polyhydramnios OMIM:151210
Wolman Disease
Growth delay, Cachexia, Steatorrhea ORPHA:75233
Charcot-Marie-Tooth Disease, Type 4K
Increased serum lactate OMIM:616684
Mast Cell Sarcoma
Weight loss ORPHA:66661
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity OMIM:601992
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Micropenis ORPHA:2519
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Eczema, Allergic rhinitis, Elevated circulating alkaline phosphatase concentration, H... OMIM:618162
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism ORPHA:624
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Pulmonary embolism, Budd-Chiari syndrome, Ascites, Generalized edema OMIM:226300
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, D... OMIM:618426
Pyomyositis
Renal insufficiency, Weight loss ORPHA:764
Giant Cell Arteritis
Hematuria, Renal insufficiency, Weight loss ORPHA:397
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Horseshoe... ORPHA:99776
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int... ORPHA:99228
Monosomy X
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int... ORPHA:99226
Turner Syndrome
Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int... ORPHA:881
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Increased serum lactate ORPHA:1349
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Cystic Echinococcosis
Membranous nephropathy, Renal cyst, Hyperbilirubinemia, Weight loss ORPHA:400
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Xanthinuria, Type I
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr... OMIM:278300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Lactic acidosis, Aminoaciduria, Growth delay OMIM:616084
Smith-Lemli-Opitz Syndrome
Renal cyst, Micropenis, Hepatic steatosis, Bifid uvula, Penoscrotal hypospadias, Hepatomegaly, Sh... OMIM:270400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S... OMIM:301050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Intestinal malrotation, Renal hypoplasia, Abdominal obesity, Hy... OMIM:619321
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Increased serum lactate, Abnormal circulating creatine kinase concentration, Abnormal circulating... ORPHA:521411
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Peritonitis, Cirrhosis, Cough, Pleural effusion, Cerebr... ORPHA:1546
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:90003
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Metabolic acidosis, Lactic acidosis OMIM:616501
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Increased serum lactate, Elevated circulating creatine kinase concentra... OMIM:619405
Coccidioidomycosis
Respiratory distress, Pericarditis, Renal insufficiency, Pneumonia, Abnormality of the kidney, Ab... ORPHA:228123
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Growth delay, Intrauterine growth retardation, Failure to thrive ORPHA:217346
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Obesity, Weight loss, Growth delay, Intrauterine growth retardation ORPHA:251071
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P... OMIM:269700
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Perry Syndrome
Weight loss ORPHA:178509
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria ORPHA:30
Childhood-Onset Spasticity With Hyperglycinemia
Increased serum lactate, Nonketotic hyperglycinemia ORPHA:401866
Stevens-Johnson Syndrome
Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Abnormality of the urethra, Weight... ORPHA:36426
Pfapa Syndrome
Weight loss ORPHA:42642
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Keratoconjunctivitis sicca, Hepatic fibrosis, Cirrho... ORPHA:14
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr... ORPHA:70591
Tetrasomy 5P
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Heart murmur ORPHA:3309
Postinfectious Vasculitis
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... ORPHA:48435
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Unsteady gait, Multiple renal cysts, Reduced renal corticomedullary differe... OMIM:618733
Congenital Tracheal Stenosis
Respiratory distress, Abnormality of the kidney, Polyhydramnios, Fetal ascites, Neonatal asphyxia... ORPHA:141127
Shwachman-Diamond Syndrome 1
Respiratory distress, Hepatomegaly, Neonatal respiratory distress, Elevated hepatic transaminase,... OMIM:260400
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... ORPHA:31204
Opsismodysplasia
Renal phosphate wasting, Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia OMIM:258480
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:280365
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Esophageal Atresia
Respiratory distress, Renal agenesis, Episodic respiratory distress, Chronic pulmonary obstructio... ORPHA:1199
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... ORPHA:404454
Listeriosis
Respiratory distress, Liver abscess, Ataxia, Pneumonia, Miscarriage, Jaundice, Peritonitis, Pyelo... ORPHA:533
Mitochondrial Dna Depletion Syndrome 19
Increased serum lactate, Hypospadias OMIM:618972
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Melas
Proteinuria, Short stature, Increased serum lactate, Lactic acidosis, Focal segmental glomerulosc... ORPHA:550
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Weight loss, Xanthelasma, Hydronephrosis ORPHA:35687
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Aganglionic megacol... OMIM:229850
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Obe... ORPHA:91
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Lactic acidosis, Elevated... OMIM:603041
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, Hematuria, Incr... ORPHA:60025
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Seborrheic dermatitis, L... OMIM:300868
Kniest Dysplasia
Respiratory distress, Gait disturbance, Tracheomalacia OMIM:156550
Optic Atrophy 11
Increased serum lactate, Short stature, Mildly elevated creatine kinase OMIM:617302
Developmental And Epileptic Encephalopathy 51
Elevated lactate:pyruvate ratio, Failure to thrive, Increased serum lactate OMIM:617339
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Palpebral edema, Jaundice, Aminoaciduria, P... OMIM:214110
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... ORPHA:900
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Adnp Syndrome
Respiratory distress, Recurrent urinary tract infections, Urinary incontinence, Aggressive behavi... ORPHA:404448
Diarrhea 12, With Microvillus Atrophy
Metabolic acidosis OMIM:619445
Osteopetrosis With Renal Tubular Acidosis
Short stature, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosi... ORPHA:2785
Mitochondrial Phosphate Carrier Deficiency
Metabolic acidosis, Lactic acidosis OMIM:610773
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
1P36 Deletion Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Abnormality of the kidney, Abnormality of the sp... ORPHA:1606
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypocalciuria, Hypophosphaturia ORPHA:73223
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... OMIM:618500
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, ... OMIM:620369
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... ORPHA:564
Felty Syndrome
Recurrent urinary tract infections, Weight loss ORPHA:47612
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
Beta-Ureidopropionase Deficiency
Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst... OMIM:613161
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Increased serum lactate, Failure to thrive, Elevated circulating creatine kinase concentration OMIM:610131
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, High palate, Hepatic steat... OMIM:188400
Bohring-Opitz Syndrome
Short stature, Nephroblastoma, Cleft palate, Urinary retention, Severe failure to thrive, Choleli... ORPHA:97297
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Lactic acidosis, Increased serum lactate OMIM:614462
Riddle Syndrome
Weight loss, Short stature, Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna ORPHA:420741
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Microglossia, Cleft palate, Hep... OMIM:263520
Vici Syndrome
Elevated circulating creatine kinase concentration, Postnatal growth retardation, Acidosis, Failu... OMIM:242840
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Short stature, Cachexia ORPHA:52503
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cardiomyopathy, Tracheomalacia OMIM:217980
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate OMIM:617710
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Unilateral renal agenesis, Polyhydramnios, Splenic cyst, Enlarged kidney OMIM:618188
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... ORPHA:3342
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Broad-based gait, Ataxia ORPHA:438216
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k... ORPHA:53035
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Huntington Disease-Like 1
Weight loss ORPHA:157941
Christianson Syndrome
Cachexia ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, High palate, Hepatic steatosis, Urinary incontinence OMIM:619934
Japanese Encephalitis
Respiratory distress, Anorexia, Choreoathetosis, Respiratory paralysis, Abnormal pattern of respi... ORPHA:79139
Harel-Yoon Syndrome
Increased serum lactate OMIM:617183
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Renal insufficiency, Proteinuria, Respirator... OMIM:614748
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Pyloric stenosis, Intrauterine growth retardation, Annular pancreas,... OMIM:147791
Pontocerebellar Hypoplasia, Type 9
Increased serum lactate OMIM:615809
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Short stature, Cleft palate, Intrauterine growth retardation, Annul... ORPHA:488642
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Decreased circulating lipoprotein lipase concentra... ORPHA:556955
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis ORPHA:93260
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
3-Methylglutaconic Aciduria, Type Viii
Increased serum lactate, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Fa... OMIM:617248
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive, Reduced orotidine 5-prime... OMIM:258900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Overweight, Metabolic acidosis, Renal tubular acidosis, Failure to thrive OMIM:619575
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Nephrolithiasis, Death in childhood, Chronic lung disease OMIM:613848
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Postnatal growth retarda... OMIM:619127
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia ORPHA:371364
Peripheral Primitive Neuroectodermal Tumor
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Weigh... ORPHA:370348
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Thymoma
Glomerulonephritis, Weight loss ORPHA:99867
Jacobsen Syndrome
Multicystic kidney dysplasia, Short stature, Intestinal malrotation, Eczema, Cryptorchidism, Pylo... ORPHA:2308
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries OMIM:151660
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Abnormality of the kidney, Head-banging, Abnormal temper tantrums, Compulsi... ORPHA:177907
Cap Polyposis
Weight loss ORPHA:160148
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:913
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Failure to thrive, Osteomyelitis, Hypospadias, Overweight, High, n... OMIM:619475
Familial Colorectal Cancer Type X
Abnormal circulating creatine concentration, Weight loss, Renal neoplasm ORPHA:440437
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Osteosarcoma
Weight loss ORPHA:668
Takayasu Arteritis
Weight loss ORPHA:3287
Combined Oxidative Phosphorylation Deficiency 7
Increased serum lactate, Failure to thrive OMIM:613559
Bullous Pemphigoid
Weight loss ORPHA:703
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hyperphosphaturia, Transient ischemic attack, Edema, Polyhydramnios, Perica... ORPHA:51608
Thymic Carcinoma
Weight loss ORPHA:99868
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Short stature, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Vesicourete... OMIM:616975
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Prolonged prothrombin time, Hepatic hemangioma, Petechiae, Purpura ORPHA:2330
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension, Abnormality of the pancreas ORPHA:1555
Lissencephaly 7 With Cerebellar Hypoplasia
Increased serum lactate OMIM:616342
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss ORPHA:411602
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Abnormal heart rate variability ORPHA:206436
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Persistent fetal circulation OMIM:612863
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Mitochondrial Complex I Deficiency, Nuclear Type 28
Increased serum lactate, Hyperalaninemia, Failure to thrive OMIM:618249
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short stature, Obesity, Cachexia ORPHA:85293
Achondroplasia
Respiratory distress, Upper airway obstruction, Polyhydramnios OMIM:100800
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Restrictive ventilatory defect, Respiratory distress OMIM:183900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Failure to thrive, Short stature, Cholangitis, Rhizomelia, Pa... OMIM:266920
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Micropenis, Nephroca... ORPHA:264450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Respiratory insufficiency, Restric... ORPHA:536467
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Primary Hepatic Neuroendocrine Carcinoma
Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We... ORPHA:100085
Chronic Beryllium Disease
Weight loss ORPHA:133
Mgat2-Cdg
Respiratory distress, Abnormal bleeding, Hydrops fetalis, Reflex asystolic syncope, Arrhythmia ORPHA:79329
Rodrigues Blindness
Nasal flaring OMIM:268320
Kaposi Sarcoma
Weight loss ORPHA:33276
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Rothmund-Thomson Syndrome, Type 2
Short stature, Small for gestational age, Cryptorchidism, Anteriorly placed anus, High palate, An... OMIM:268400
Richards-Rundle Syndrome
Ketonuria ORPHA:1399
Sudden Cardiac Failure, Infantile
Metabolic acidosis OMIM:617222
Zttk Syndrome
Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth delay, Intrauterine ... OMIM:617140
Ogden Syndrome
Global glomerulosclerosis, Short stature, Eczema, Postnatal growth retardation, Cryptorchidism, J... OMIM:300855
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Dilatation of the... OMIM:265380
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Renal agenesis, Polyhydramnios, Asplenia, Biliary atresia, Ho... OMIM:306955
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Abnormal penis morphology, Respiratory distress, Respiratory failu... ORPHA:95455
Hermansky-Pudlak Syndrome
Renal insufficiency, Weight loss ORPHA:79430
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Pelvic kidney, Attention def... ORPHA:466943
Dehydrated Hereditary Stomatocytosis
Edema, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hypertension... ORPHA:3202
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Diamond-Blackfan Anemia 10
Respiratory distress, Renal duplication, Ectopic kidney OMIM:613309
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Aganglionic megacolon, Failure to thrive in infancy, R... ORPHA:798
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Gm1 Gangliosidosis
Failure to thrive, Short stature, Weight loss ORPHA:354
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased serum lactate, Mildly elevated creatine kinase, Weight loss OMIM:607459
Scimitar Syndrome
Respiratory distress, Left-to-right shunt, Heart block, Congestive heart failure, Pneumothorax, C... ORPHA:185
Pemphigus Vulgaris
Weight loss ORPHA:704
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Renal dysplasia, Hydronephrosis OMIM:300968
Malignant Atrophic Papulosis
Abnormality of the lower urinary tract, Weight loss ORPHA:679
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... OMIM:193300
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Polyuria, Hypercholesterolemia, Failure to thrive OMIM:606721
Juvenile Dermatomyositis
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... ORPHA:93672
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Short stature,... ORPHA:84
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Autosomal Dominant Progressive External Ophthalmoplegia
Increased serum lactate, Failure to thrive, Elevated circulating creatine kinase concentration, N... ORPHA:254892
Orofaciodigital Syndrome I
Short stature, Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, ... OMIM:311200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Short stature, Conjugated hyperbilirubinemia,... OMIM:619534
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Biliary atresia, Oligohydramnios, Pancreatic aplasia,... ORPHA:2255
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Ramos-Arroyo Syndrome
Respiratory distress, Self-mutilation ORPHA:1051
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension, Hypospadias OMIM:123790
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Jejunal atresia, ... ORPHA:391641
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha... ORPHA:2750
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Zygomycosis
Renal insufficiency, Fasciitis, Gastritis, Sinusitis, Pericarditis, Pustule, Myocarditis, Periton... ORPHA:73263
Primary Sclerosing Cholangitis
Renal insufficiency, Hypoalbuminemia, Weight loss ORPHA:171
Trisomy 18
Short stature, Cachexia, Abnormality of the upper urinary tract, Growth delay, Intrauterine growt... ORPHA:3380
Schwartz-Jampel Syndrome
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the u... ORPHA:800
Atypical Werner Syndrome
Renal neoplasm, Decreased body weight, Failure to thrive, Short stature, Ovarian neoplasm, Glycos... ORPHA:79474
Whipple Disease
Hyponatremia, Cachexia ORPHA:3452
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Failure to thrive, Short stature, Decreased response to growt... ORPHA:3455
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Increased serum lactate, Intrauterine growth retardation OMIM:620275
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased serum lactate OMIM:612949
Perry Syndrome
Weight loss OMIM:168605
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ... OMIM:164280
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test, Portal hypertension, Un... OMIM:619503
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Pancreatic And Cerebellar Agenesis
Failure to thrive, Pancreatic hypoplasia, Severe intrauterine growth retardation, Pancreatic aplasia OMIM:609069
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Increased serum lactate ORPHA:438114
Arboleda-Tham Syndrome
Respiratory distress, Recurrent urinary tract infections, Neonatal respiratory distress, Gait imb... OMIM:616268
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Weight loss ORPHA:37
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Loeffler Endocarditis
Weight loss ORPHA:75566
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Increased serum lactate OMIM:609286
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly, Horseshoe kidney OMIM:617088
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Short stature, Galactosuria ORPHA:85276
Bronchial Neuroendocrine Tumor
Increased circulating cortisol level, Weight loss ORPHA:97287
Rett Syndrome
Short stature, Cachexia OMIM:312750
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Dyspnea, Epispadias, Respiratory failure ORPHA:2554
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Polyhydramnios, Stridor,... OMIM:114290
Combined Oxidative Phosphorylation Defect Type 39
Increased serum lactate, Intrauterine growth retardation ORPHA:565624
Brucellosis
Small for gestational age, Glomerulonephritis, Elevated circulating C-reactive protein concentrat... ORPHA:1304
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Plasminogen Deficiency, Type I
Duodenal ulcer, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Plague
Respiratory distress, Abnormal bleeding, Tachycardia, Hepatomegaly, Edema, Hematemesis, Splenomeg... ORPHA:707
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Micropenis, Emphysema OMIM:224690
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss ORPHA:100078
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea, Weight loss ORPHA:97283
Ppoma
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97278
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Dyspnea, E... ORPHA:2556
Kanzaki Disease
Telangiectasia of the oral mucosa, Lymphedema, Increased urinary O-linked sialopeptides, Lip tela... OMIM:609242
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Wars2-Related Combined Oxidative Phosphorylation Defect
Lactic acidosis, Intrauterine growth retardation, Increased serum lactate ORPHA:572798
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Pneumocystosis
Weight loss ORPHA:723
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss, Steatorrhea ORPHA:309031
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Hyperactivity, Hypospadias, Impulsivity, Self-mutilation,... OMIM:180849
Reactive Arthritis
Recurrent urinary tract infections, Weight loss ORPHA:29207
Spastic Tetraplegia And Axial Hypotonia, Progressive
Increased serum lactate OMIM:618598
Combined Oxidative Phosphorylation Deficiency 39
Increased serum lactate, Intrauterine growth retardation OMIM:618397
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Biliary hyperplasia, Cholelithiasis, Micropenis, Pancreatic h... ORPHA:83617
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Lactic acidosis, Increased serum lactate OMIM:617186
Behçet Disease
Glomerulopathy, Renal insufficiency, Weight loss ORPHA:117
Nijmegen Breakage Syndrome
Pollakisuria, Short stature, Cachexia ORPHA:647
8Q24.3 Microdeletion Syndrome
Respiratory distress, Hyperactivity, Abnormality of the kidney, Unilateral renal agenesis, Bilate... ORPHA:508488
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Glucagonoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea, Weight loss ORPHA:97280
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Grfoma
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97261
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... ORPHA:99125
Primary Myelofibrosis
Cachexia ORPHA:824
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Klatskin Tumor
Weight loss ORPHA:99978
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Oligohydramnios ORPHA:3206
Osteoglophonic Dysplasia
Respiratory distress, Chordee, Hypospadias OMIM:166250
Budd-Chiari Syndrome
Weight loss ORPHA:131
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Juvenile Polyposis Of Infancy
Short stature, Hypoalbuminemia, Cachexia ORPHA:79076
Combined Oxidative Phosphorylation Deficiency 15
Increased serum lactate, Short stature, Obesity OMIM:614947
Camurati-Engelmann Disease
Slender build, Urinary retention, Cachexia, Delayed puberty ORPHA:1328
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Ataxia, Proteinuria, Abnormal liver parenchy... ORPHA:79318
Isolated Arrhinia
Respiratory distress ORPHA:1134
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Weight loss OMIM:301074
Immunodeficiency 31C
Growth delay, Weight loss, Short stature, Delayed puberty OMIM:614162
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Mitochondrial Complex I Deficiency, Nuclear Type 2
Increased serum pyruvate, Increased serum lactate OMIM:618222
Mucolipidosis Type Ii
Postnatal growth retardation, Short stature, Weight loss ORPHA:576
Chronic Graft Versus Host Disease
Hematuria, Urinary bladder inflammation, Weight loss, Phimosis ORPHA:99921
Poems Syndrome
Weight loss ORPHA:2905
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Doors Syndrome
Respiratory distress, Increased urine alpha-ketoglutarate concentration, Polyhydramnios, Nephroca... ORPHA:79500
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:99889
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Delayed puberty, Weight loss ORPHA:91347
African Trypanosomiasis
Renal insufficiency, Urinary incontinence, Abnormality of circulating cortisol level, Weight loss ORPHA:3385
Ulbright-Hodes Syndrome
Respiratory distress, Abnormal penis morphology, Pneumothorax, Renal hypoplasia, Respiratory fail... ORPHA:3404
Lynch Syndrome
Weight loss ORPHA:144
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased serum lactate ORPHA:70595
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Combined Oxidative Phosphorylation Deficiency 29
Increased serum lactate OMIM:616811
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Increased serum lactate OMIM:618321
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss OMIM:619381
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Cachexia ORPHA:109
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Combined Oxidative Phosphorylation Defect Type 29
Increased serum lactate ORPHA:478029
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased serum lactate OMIM:157640
Proximal Spinal Muscular Atrophy
Metabolic acidosis ORPHA:70
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Familial Thrombocytosis
Weight loss ORPHA:71493
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:50918
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Respiratory distress, Cyst of the ductus choledochus, Difficulty walking, Hydron... ORPHA:480880
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Renal artery stenosis, Renal steatosis ORPHA:391665
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Malt Lymphoma
Weight loss ORPHA:52417
Rat-Bite Fever
Weight loss ORPHA:31205
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Respiratory distress, Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyg... ORPHA:99646
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:2388
Multiple Osteochondromas
Pneumothorax, Urinary retention, Hemothorax ORPHA:321
Dermatomyositis
Weight loss ORPHA:221
Proteus Syndrome
Cachexia, Long penis, Renal cyst ORPHA:744
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Delayed menarche, Weight loss ORPHA:740
Cerebrotendinous Xanthomatosis
Increased serum lactate ORPHA:909
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Growth delay, Cachexia, Delayed puberty ORPHA:2072
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Stickler Syndrome
Short stature, Slender build, Cachexia ORPHA:828
Norrie Disease
Failure to thrive, Cachexia, Delayed puberty ORPHA:649

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 Mmut

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 Mmut.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. Molecular genetics and metabolism (June 2018) Mmuttm1a(EUCOMM)Wtsi 29934063

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mmuttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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