Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dihydrolipoamide branched chain transacylase E2
Synonyms:
BCKAD E2,  D3Wsu60e,  dihydrolipoyllysine-residue (2-methylpropanoyl)transferase,  dihydrolipoyl transacylase

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dbt 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 Dbt by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Coma, Lethargy OMIM:248600

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyper-Beta-Alaninemia
Neonatal respiratory distress, Excessive daytime somnolence, Increased urinary taurine OMIM:237400
Dibasic Amino Aciduria I
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria OMIM:222690
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239510
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Saccharopinuria
Citrullinuria, Saccharopinuria, Histidinuria, Hyperlysinuria OMIM:268700
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Hyperlysinuria With Hyperammonemia
Coma, Dibasicaminoaciduria, Lethargy, Hyperlysinuria OMIM:238750
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Tiglic Acidemia
Aminoaciduria OMIM:275190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Carnosinemia
Carnosinuria OMIM:212200
Threoninemia
Hyperthreoninuria OMIM:273770
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Phenylketonuria
Aminoaciduria ORPHA:716
Camptodactyly 1
Increased urinary taurine OMIM:114200
Valinemia
Drowsiness, Valinuria OMIM:277100
Diaminopentanuria
Cystinuria, Hyperlysinuria OMIM:222350
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Hydroxykynureninuria
Aminoaciduria, Coma, Renal tubular dysfunction OMIM:236800
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:239500
Homocarnosinosis
Carnosinuria OMIM:236130
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Respiratory insufficiency ORPHA:147
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Aminoaciduria, Recurrent pneumonia, Atelectasis OMIM:268500
Methionine Malabsorption Syndrome
Aminoaciduria, Tachypnea OMIM:250900
Glycine Encephalopathy
Hyperglycinuria, Lethargy OMIM:605899
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Lethargy ORPHA:79283
Gracile Syndrome
Aminoaciduria OMIM:603358
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Respiratory failure, Lethargy, Aminoaciduria, Renal insufficiency OMIM:619386
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Abnormal pattern of respiration ORPHA:833
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria, Respiratory distress, Let... ORPHA:26792
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Fanconi Renotubular Syndrome 5
Emphysema, Glycosuria, Proteinuria, Tubulointerstitial fibrosis, Aminoaciduria, Decreased DLCO, S... OMIM:618913
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Cystathioninuria
Cystathioninuria, Nephrolithiasis ORPHA:212
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Argininemia
Diaminoaciduria ORPHA:90
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Lethargy OMIM:236270
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Proteinuria, Acute kidney injury, Hematuria, Coma, Confusion, Dyspnea... ORPHA:54057
Retinitis Pigmentosa 42
Pallor OMIM:612943
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Renal insufficiency, Lethargy ORPHA:254857
N-Acetylglutamate Synthase Deficiency
Coma, Confusion, Respiratory distress, Lethargy OMIM:237310
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Fanconi Renotubular Syndrome 1
Glycosuria, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Renal insuffic... OMIM:134600
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency OMIM:613388
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Respiratory insufficiency due to muscle weakness OMIM:609560
Hypertryptophanemia
Tryptophanuria OMIM:600627
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Dyspnea ORPHA:228312
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Retinitis Pigmentosa 81
Pallor OMIM:617871
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure, Lethargy OMIM:605711
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Isovaleric Acidemia
Coma, Hyperglycinuria, Lethargy OMIM:243500
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Mitochondrial Complex I Deficiency, Nuclear Type 3
Respiratory insufficiency, Lethargy OMIM:618224
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glycosuria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Saccharopinuria
Citrullinuria, Cystinuria, Hyperlysinuria ORPHA:3124
Cirrhosis, Familial
Pulmonary arterial hypertension, Increased level of L-fucose in urine, Lethargy OMIM:215600
Retinitis Pigmentosa 60
Pallor OMIM:613983
Breath-Holding Spells
Pallor, Loss of consciousness OMIM:607578
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Coma, Hyperglycinuria, Lethargy OMIM:201450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Excessive daytime som... ORPHA:436271
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Tachypnea, Lethargy, Pulmonary arterial hypertension OMIM:614857
Benign Paroxysmal Torticollis Of Infancy
Pallor, Drowsiness ORPHA:71518
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Ex... OMIM:220110
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Renal insufficiency, Coma, Lethargy ORPHA:28
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Abnormality of the kidney, Renal dysplasia, Respiratory distress, Ren... OMIM:615993
Evans Syndrome
Petechiae, Dyspnea, Lethargy, Pallor, Epistaxis ORPHA:1959
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough, Lethargy ORPHA:163703
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Respiratory distress, Abnormal re... OMIM:616733
Glut1 Deficiency Syndrome 1
Lethargy, Confusion, Paroxysmal lethargy OMIM:606777
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria OMIM:230400
Multiple Carboxylase Deficiency
Tachypnea, Coma, Lethargy, Organic aciduria, Respiratory distress ORPHA:148
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Cough, Bronchie... OMIM:619468
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Lethargy OMIM:618228
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Drowsiness, Coma, Lethargy ORPHA:276608
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ethylmalonic aciduria, Lethargy OMIM:201470
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Lethargy OMIM:274270
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Optic Atrophy 9
Pallor OMIM:616289
Dermatitis, Atopic
Asthma, Facial erythema, Allergic rhinitis, Pallor, Dry skin OMIM:603165
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Acute kidney injury, Cough, Dyspne... ORPHA:140896
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hsd10 Disease
Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid ORPHA:391417
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy OMIM:618225
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Excessive daytime somnolence, Coma, Increased level of hippuric acid i... OMIM:246450
Acute Myelomonocytic Leukemia
Pallor, Dyspnea ORPHA:517
Malaria
Reduced consciousness/confusion, Respiratory distress, Acute kidney injury ORPHA:673
Fructose-1,6-Bisphosphatase Deficiency
Coma, Increased urinary glycerol, Dyspnea, Lethargy, Hyperventilation, Apnea OMIM:229700
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Reduced consciousness/confusion, Drowsiness, Excessive daytime somnol... ORPHA:348
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Confusion, Cough, Leth... ORPHA:36238
Sarcosinemia
Hypersarcosinuria ORPHA:3129
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Central apnea, Lethargy ORPHA:71277
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276556
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Holocarboxylase Synthetase Deficiency
Tachypnea, Coma, Lethargy, Organic aciduria, Respiratory distress ORPHA:79242
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis ORPHA:163690
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Spontaneous Periodic Hypothermia
Pallor, Reduced consciousness/confusion, Abnormal pattern of respiration ORPHA:29822
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Riboflavin Deficiency
Dicarboxylic aciduria, Lethargy OMIM:615026
Peripheral Cone Dystrophy
Pallor OMIM:609021
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Coma, Lethargy, Respiratory distress, Renal insufficiency ORPHA:289916
Sulfite Oxidase Deficiency, Isolated
Increased urinary sulfite, Sulfocysteinuria, Decreased urinary sulfate OMIM:272300
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Confusion,... OMIM:274150
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Netherton Syndrome
Emphysema, Ectopic kidney, Asthma, Hydronephrosis, Aminoaciduria, Dry skin ORPHA:634
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276575
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Propionic Acidemia
Tachypnea, Coma, Lethargy, Increased level of hippuric acid in urine, Apnea, Hyperglycinuria OMIM:606054
X-Linked Sideroblastic Anemia
Pallor, Dyspnea ORPHA:75563
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:276580
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Lethargy, Ketonuria, Organic aciduria, Hyperglycinuria OMIM:210210
Perching Syndrome
Respiratory distress OMIM:617055
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Loss of consciousness, Lethargy, Hypoglycemic coma, Pallor ORPHA:324575
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Proteinuria, Hypercalc... ORPHA:1652
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Lethargy OMIM:312170
Succinic Semialdehyde Dehydrogenase Deficiency
Increased level of gamma-aminobutyric acid in urine, Elevated urinary 4-hydroxybutyric acid OMIM:271980
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Coma, Hyperp... OMIM:277900
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Lethargy OMIM:618226
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Distal renal tubular acidosis, Lethargy, Pallor OMIM:611590
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Tachypnea, Hyperphosphaturia, Dyspnea, Aminoaciduria OMIM:239200
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Lethargy OMIM:610498
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Coma, Loss of consciousness, Confusion, Lethargy, Respiratory distress, Delirium ORPHA:927
Glutaric Acidemia Type 3
Ketonuria, Glutaric aciduria, Lethargy ORPHA:35706
Glycerol Kinase Deficiency
Increased urinary glycerol, Coma, Loss of consciousness, Lethargy OMIM:307030
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Aminoaciduria OMIM:616026
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Apnea, Coma, Lethargy OMIM:210200
2P21 Microdeletion Syndrome
Cystinuria, Nephrolithiasis ORPHA:163693
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Elevated urinary 3-hydroxybutyric acid, Loss of consciousness, Lethargy, Exertional dyspnea... ORPHA:42
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria ORPHA:23
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
D-Glyceric Aciduria
Aminoaciduria OMIM:220120
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Confusion, Hydroxyprolinuria, Rena... ORPHA:79101
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Lethargy OMIM:614299
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Retinitis Pigmentosa 70
Pallor OMIM:615922
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Methylmalonic aciduria, Lethargy OMIM:277410
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Respiratory insufficiency due to muscle weakness, Methylmalonic aciduria OMIM:612073
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Hematuria, Nephrolithiasis, Renal insuff... OMIM:614723
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Pallor, Abnormal urinary color ORPHA:90037
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation, Lethargy OMIM:618232
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Methylmalonic aciduria, Hemolytic-uremic syndrome, Proteinuria,... OMIM:277400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Coma, Respiratory distress, Lethargy ORPHA:79312
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Cyclic Vomiting Syndrome
Pallor, Lethargy OMIM:500007
Thyroid Dyshormonogenesis 1
Dry skin, Lethargy OMIM:274400
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria OMIM:250940
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria OMIM:309541
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Citrullinemia, Type Ii, Adult-Onset
Coma, Confusion, Argininosuccinic aciduria OMIM:603471
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Cystinosis
Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropathy, Renal insufficiency ORPHA:213
Holocarboxylase Synthetase Deficiency
Tachypnea, Coma, Lethargy, Organic aciduria, Hyperventilation OMIM:253270
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Proteinuria, Drowsiness, Coma, Lethargy, Pallor ORPHA:263455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Tachypnea, Lethargy OMIM:615751
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Lethargy ORPHA:49827
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Respiratory distress OMIM:614741
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Lethargy ORPHA:324581
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Tubulointerstitial fibrosis, Respiratory distress OMIM:263000
Scrub Typhus
Restrictive ventilatory defect, Reduced consciousness/confusion, Cough, Dyspnea, Lethargy, Renal ... ORPHA:83317
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Pulmonary arterial hypert... OMIM:619003
Autoimmune Hemolytic Anemia
Pallor, Abnormal urinary color, Dyspnea ORPHA:98375
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Acquired Methemoglobinemia
Hypoxemia, Drowsiness, Coma, Loss of consciousness, Confusion, Dyspnea, Respiratory distress ORPHA:464453
Citrullinemia Type I
Tachypnea, Coma, Loss of consciousness, Lethargy ORPHA:247525
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninuria, Homocystinuria, Methylmalonic aciduria, Lethargy OMIM:277380
Juvenile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Elevated circulating creatinine concentration, Proteinuria, P... ORPHA:411634
Meningococcal Meningitis
Petechiae, Reduced consciousness/confusion, Drowsiness, Lethargy, Renal insufficiency, Neonatal r... ORPHA:33475
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound, Crackles,... ORPHA:1302
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinitis Pigmentosa 27
Pallor OMIM:613750
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Severe Canavan Disease
Lethargy ORPHA:314911
Pleural Mesothelioma
Abnormal respiratory system physiology, Pleural effusion, Cough, Dyspnea, Respiratory distress ORPHA:50251
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
Myxedema
Dry skin, Lethargy OMIM:255900
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Methylmalonic Aciduria, Cblb Type
Methylmalonic aciduria, Coma, Lethargy, Ketonuria, Respiratory distress OMIM:251110
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketonuria, Lethargy ORPHA:2089
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Lethargy OMIM:143880
Mixed-Type Autoimmune Hemolytic Anemia
Exertional dyspnea, Pallor, Abnormal urinary color ORPHA:90036
D-Glyceric Aciduria
Loss of consciousness, Hyperglycinuria ORPHA:941
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Lethargy OMIM:618120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating creatinine concentration, Ureteral duplication, Hydronephro... OMIM:608836
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:276710
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, El... ORPHA:90060
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria, Aminoaciduria OMIM:210550
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Renal insufficiency, Coma, Lethargy ORPHA:27
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Distal Renal Tubular Acidosis
Renal cyst, Hypermagnesiuria, Nephrocalcinosis, Nephrolithiasis, Hypocitraturia, Hypercalciuria, ... ORPHA:18
Fumarase Deficiency
Pallor, Aminoaciduria OMIM:606812
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Retinitis Pigmentosa 73
Pallor OMIM:616544
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor, Respiratory insufficiency due to muscle weakness OMIM:608423
Argininosuccinic Aciduria
Aminoaciduria, Oroticaciduria, Coma, Lethargy OMIM:207900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Respiratory distress ORPHA:240085
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria OMIM:614520
Methylmalonic Aciduria, Cbla Type
Methylmalonic aciduria, Coma, Lethargy, Ketonuria, Respiratory distress OMIM:251100
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Respiratory failure, Glomerulonephritis, Cough, Dyspnea... ORPHA:99931
Canavan Disease
Elevated urinary N-acetylaspartic acid level OMIM:271900
Central Diabetes Insipidus
Excessive daytime somnolence, Nocturia, Lethargy ORPHA:178029
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Lethargy, Dicarboxylic aciduria, Respiratory arrest, Exercise-induced myoglobinuria OMIM:201475
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respiratory distres... ORPHA:91359
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia OMIM:227810
Familial Nasal Acilia
Chronic rhinitis, Dyspnea, Atelectasis, Bronchiectasis, Respiratory distress, Chronic sinusitis ORPHA:922
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Coma, Loss of consciousness, Lethargy ORPHA:156
Myopathy And Diabetes Mellitus
Delirium, Respiratory distress ORPHA:2596
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, ... ORPHA:2088
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Hydronephrosis OMIM:617913
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, Chronic k... ORPHA:3337
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Tubulointerstitial nephritis, Coma, Lethargy, Stage 5 chronic kidney disease OMIM:251000
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Nipah Virus Disease
Coma, Cough, Respiratory distress ORPHA:99825
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:140350
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Aminoaciduria, Polycystic kidney dysplasia OMIM:214110
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Proteinuria, E... ORPHA:340
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress OMIM:300934
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary epinephrine, Elevated urinary norepinephri... ORPHA:94080
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Increased urinary sulfite, Increased urinary thiosulfate, Decreased urinary urate, D... OMIM:252150
Interstitial Lung And Liver Disease
Hypoxemia, Cough, Dyspnea, Aminoaciduria, Respiratory insufficiency OMIM:615486
Hemoglobin D Disease
Pallor ORPHA:90039
Carnitine Deficiency, Systemic Primary
Excessive daytime somnolence, Coma, Confusion, Lethargy OMIM:212140
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Acute tubulointerstitial nephritis, Elevated circulating creatinine con... OMIM:607665
Typhoid
Coma, Cough, Epistaxis, Lethargy ORPHA:99745
Beta-Ketothiolase Deficiency
Reduced consciousness/confusion, Excessive daytime somnolence, Tachypnea, Coma, Cough, Ketonuria,... ORPHA:134
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Upper airway obstruction, Respiratory distress ORPHA:100057
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine OMIM:300539
Autoimmune Hemolytic Anemia, Warm Type
Exertional dyspnea, Pallor, Abnormal urinary color ORPHA:90033
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Proximal Renal Tubular Acidosis
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bicarbonaturia, G... ORPHA:47159
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Coma, Lethargy, Dicarboxylic aciduria, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Lysinuric Protein Intolerance
Oroticaciduria, Coma, Cutis laxa, Aminoaciduria, Respiratory insufficiency, Stage 5 chronic kidne... OMIM:222700
Fructose Intolerance, Hereditary
Glycosuria, Hyperuricosuria, Bicarbonaturia, Proximal tubulopathy, Coma, Hyperphosphaturia, Letha... OMIM:229600
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea, Lethargy ORPHA:765
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death, Increased urinary taurine OMIM:615501
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy OMIM:619064
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Mercury Poisoning
Acute kidney injury, Respiratory failure, Interstitial pneumonitis, Loss of consciousness, Confus... ORPHA:330021
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Lethargy OMIM:615838
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Myoclonus, Intractable, Neonatal
Pallor, Apnea OMIM:617235
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis OMIM:606407
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Lethargy ORPHA:2394
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Homocystinuria, Lethargy ORPHA:395
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress ORPHA:240103
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, He... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, He... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, He... OMIM:612926
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Coma, Lethargy OMIM:248600
Hartnup Disease
Abnormal urinary color, Neutral hyperaminoaciduria ORPHA:2116
Tetanus
Tachypnea, Coma, Elevated urinary epinephrine, Elevated urinary norepinephrine, Respiratory distress ORPHA:3299
Central Neurocytoma
Coma, Lethargy ORPHA:73256
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Tachypnea, Coma, Lethargy, Ketonuria, Hypoglycemic coma, Pallor, Apnea ORPHA:20
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Lethargy OMIM:301790
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Coma, Lethargy OMIM:255120
Infantile Nephropathic Cystinosis
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Hyperphosphaturia, Low-molecular-w... ORPHA:411629
Cholera
Decreased urine output, Acute kidney injury, Palmoplantar cutis laxa, Tachypnea, Loss of consciou... ORPHA:173
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Beta-Thalassemia
Pallor, Respiratory insufficiency, Skin ulcer ORPHA:848
Leukoencephalopathy With Vanishing White Matter
Lethargy OMIM:603896
Hemochromatosis Type 2
Lethargy ORPHA:79230
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Leigh Syndrome
Generalized aminoaciduria, Renal tubular acidosis, Methylmalonic aciduria, Nephrotic syndrome, Re... ORPHA:506
Dengue Fever
Petechiae, Cardiorespiratory arrest, Epistaxis, Lethargy ORPHA:99828
Kanzaki Disease
Aminoaciduria, Dry skin, Increased urinary O-linked sialopeptides OMIM:609242
Pseudo-Torch Syndrome 2
Petechiae, Abnormal renal corticomedullary differentiation, Pleural effusion, Lethargy, Acute res... OMIM:617397
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Coma, Cardiorespiratory arrest, Lethargy OMIM:212138
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Lethargy OMIM:600649
Kcnq2-Related Epileptic Encephalopathy
Pallor, Apnea, Facial erythema ORPHA:439218
Dopa-Responsive Dystonia
Urinary incontinence, Lethargy ORPHA:255
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Interstitial pneumonitis, Tac... OMIM:610913
Bacterial Toxic-Shock Syndrome
Sinusitis, Pneumonia, Elevated circulating creatinine concentration, Ecchymosis, Tachypnea, Glome... ORPHA:36234
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Lethargy, Renal dysplasia, Renal insufficiency OMIM:614922
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respiratory failu... OMIM:610921
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Drowsiness, Excessive daytime somnolence, Loss of consciousness, Letha... ORPHA:2169
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Distal renal tu... OMIM:179800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Aminoaciduria, Redundant neck skin, Neonatal respirato... OMIM:214100
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Ketonuria, Tachypnea, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Rheumatic Fever
Sinusitis, Nephrotic syndrome, Erythema, Pallor, Respiratory insufficiency, Epistaxis ORPHA:3099
Cold Agglutinin Disease
Pallor, Abnormal urinary color ORPHA:56425
Acute Lung Injury
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Acute Interstitial Pneumonia
Nonproductive cough, Hypoxemia, Elevated circulating creatinine concentration, Crackles, Tachypne... ORPHA:79126
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction, Respirat... ORPHA:2414
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure, Myoglobinuria, Lethargy OMIM:609015
Biotinidase Deficiency
Organic aciduria, Apnea, Tachypnea, Lethargy OMIM:253260
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Proteinuria, Acute kidney in... ORPHA:93126
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Insulinoma
Reduced consciousness/confusion, Fluctuations in consciousness, Coma, Lethargy ORPHA:97279
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exertion, Asthma, Crackles, Tac... OMIM:610978
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts ORPHA:66637
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Aminoaciduria OMIM:619055
Myotubular Myopathy With Abnormal Genital Development
Penile hypospadias, Glandular hypospadias, Micropenis, Atelectasis, Respiratory distress, Neonata... OMIM:300219
Sepsis In Premature Infants
Abnormal respiratory system physiology, Oliguria, Petechiae, Dyspnea, Abnormal mucociliary cleara... ORPHA:90051
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... OMIM:613095
American Trypanosomiasis
Pallor, Cough, Dyspnea ORPHA:3386
Thyroid Lymphoma
Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria OMIM:251880
Susac Syndrome
Confusion, Lethargy ORPHA:838
Galactosemia
Renal insufficiency, Lethargy ORPHA:352
Biotinidase Deficiency
Lethargy, Organic aciduria, Hyperventilation, Respiratory distress, Apnea ORPHA:79241
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Sporadic Pheochromocytoma/Secreting Paraganglioma
Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Elevated urinary epineph... ORPHA:276621
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Drowsiness, Bradykinesia ORPHA:13
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Stridor, Upper airway obstruction, Respiratory distress ORPHA:142
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Confusion, Lethargy OMIM:238970
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress OMIM:615042
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Tularemia
Pneumonia, Pleural effusion, Confusion, Cough, Respiratory distress ORPHA:3392
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration, Hypoxemia, Reduced consciousness/confusi... ORPHA:97292
Leishmaniasis
Pallor, Rhinitis, Skin ulcer ORPHA:507
Citrullinemia Type Ii
Fluctuations in consciousness, Drowsiness, Enuresis, Coma, Confusion, Lethargy, Delirium ORPHA:247585
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria OMIM:264700
Molybdenum Cofactor Deficiency, Complementation Group B
Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine, Xanthinuria OMIM:252160
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Respiratory distress, Dyspnea ORPHA:86812
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Perianal erythema, Dry skin, Lethargy OMIM:201100
Cystinosis, Nephropathic
Generalized aminoaciduria, Glycosuria, Renal Fanconi syndrome, Nephrolithiasis, Proteinuria, Poly... OMIM:219800
Ogden Syndrome
Excessive daytime somnolence, Cutis laxa, Lethargy ORPHA:276432
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Dravet Syndrome
Pallor, Bradykinesia ORPHA:33069
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Oroticaciduria, Hyperlysinuria, Proteinuria, Decreased glomerul... ORPHA:470
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Methioninuria OMIM:236200
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress OMIM:606763
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Crackles, Tachypnea, Lethargy, Elevated pulmonary artery pressure, Pulmonary... ORPHA:1329
Encephalopathy, Recurrent, Of Childhood
Lethargy OMIM:130950
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Acute kidney injury, Tachypnea, Respiratory failure, C... ORPHA:454836
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Increased urine deoxypyridinoline level, Hydroxyprolinuria OMIM:239000
Encephalitis Lethargica
Urinary incontinence, Hyperventilation, Coma, Lethargy ORPHA:83600
Inhalational Anthrax
Confusion, Respiratory distress, Dyspnea ORPHA:247257
Retinitis Pigmentosa 51
Pallor OMIM:613464
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Childhood Absence Epilepsy
Pallor, Urinary incontinence, Hyperventilation ORPHA:64280
Waldenström Macroglobulinemia
Reduced consciousness/confusion, Pleural effusion, Renal insufficiency, Pallor, Respiratory insuf... ORPHA:33226
Goodpasture Syndrome
Restrictive ventilatory defect, Pallor, Increased DLCO, Glomerular crescent formation, Proteinuri... OMIM:233450
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Respiratory failure ORPHA:3226
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic aciduria, Hemolytic-uremic syndrome, Pulmonary embolism, Lethargy, Pulmonary arteri... ORPHA:79282
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Classic Galactosemia
Lethargy ORPHA:79239
Lujo Hemorrhagic Fever
Oliguria, Nonproductive cough, Ecchymosis, Drowsiness, Crackles, Coma, Confusion, Atelectasis, Rh... ORPHA:319213
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Lethargy OMIM:237300
Familial Hypoaldosteronism
Renal salt wasting, Proximal renal tubular acidosis, Decreased urinary potassium, Lethargy ORPHA:427
Stt3B-Cdg
Micropenis, Respiratory distress ORPHA:370924
Tay-Sachs Disease
Pallor, Aspiration OMIM:272800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Episodic tachypnea, Tachypnea, Lethargy, Respiratory distress ORPHA:26793
Myotonic Dystrophy 1
Excessive daytime somnolence, Respiratory distress OMIM:160900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Dyspnea, Stridor, Respiratory distress, Respiratory insufficiency OMIM:211530
Letterer-Siwe Disease
Pallor, Dyspnea OMIM:246400
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Renal Fanconi syndrome, Hypercalciuria, Erythema, Lethargy, Complex or... OMIM:557000
Senior-Loken Syndrome 8
Pallor, Nephronophthisis OMIM:616307
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Lethargy OMIM:311250
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Myoglobinuria, Confusion, Lethargy ORPHA:71212
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Respiratory distress OMIM:615597
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Pallor, Vesicoureteral reflux, Abnormal renal morphology OMIM:609053
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Hemat... ORPHA:730
Hereditary Pheochromocytoma-Paraganglioma
Glomerular sclerosis, Hematuria, Proteinuria, Elevated urinary dopamine, Elevated urinary epineph... ORPHA:29072
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Resistance To Thyrotropin-Releasing Hormone Syndrome
Dry skin, Lethargy ORPHA:99832
Primary Myelofibrosis
Pallor, Petechiae, Purpura, Ecchymosis ORPHA:824
Myelofibrosis
Pallor, Purpura OMIM:254450
Leigh Syndrome With Cardiomyopathy
Renal agenesis, Abnormal renal tubule morphology, Renal tubular acidosis, Fluctuations in conscio... ORPHA:70474
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin, Respiratory distress ORPHA:226313
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Lethargy OMIM:275350
Argininemia
Diaminoaciduria, Oroticaciduria OMIM:207800
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure, Coma, Lethargy ORPHA:746
Ebola Hemorrhagic Fever
Dyspnea, Cough, Lethargy ORPHA:319218
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria ORPHA:289157
Hyperlysinemia
Recurrent pneumonia, Cystinuria, Hyperlysinuria, Decreased urine alpha-ketoglutarate concentratio... ORPHA:2203
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Nephrocalcinosis, Nephrolithiasis, Hematuria, Proteinuria, Hype... ORPHA:534
Slc35A1-Cdg
Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Elevated circulating creatinine concentration, ... ORPHA:91500
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Cocaine Intoxication
Hematuria, Proteinuria, Acute kidney injury, Reduced consciousness/confusion, Tachypnea, Coma, Co... ORPHA:90068
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Irida Syndrome
Pallor ORPHA:209981
Histiocytoid Cardiomyopathy
Renal cyst, Drowsiness, Tachypnea, Loss of consciousness, Cough, Lethargy, Pallor ORPHA:137675
Congenital Tracheomalacia
Emphysema, Decreased peak expiratory flow, Tracheomalacia, Pneumonia, Tracheobronchomalacia, Coug... ORPHA:95430
Citrullinemia, Classic
Oroticaciduria, Coma, Lethargy OMIM:215700
Alkaptonuria
Aminoaciduria, Nephrolithiasis ORPHA:56
Necrotizing Enterocolitis
Apnea, Lethargy ORPHA:391673
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lacticaciduria, Respiratory failure, Coma, Respiratory insufficiency, Lethargy, 3-hydroxydicarbox... OMIM:252010
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Coma, Confusion, Lethargy OMIM:607483
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Lethargy ORPHA:79284
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Oroticaciduria, Tachypnea, Coma, Confusion, Lethargy ORPHA:415
Infection-Related Hemolytic Uremic Syndrome
Oliguria, Pneumonia, Decreased urine output, Acute kidney injury, Anuria, Reduced consciousness/c... ORPHA:544482
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Bicarbonaturia, Proteinuria, Hyperphosphaturia, Aminoaciduria, Renal insu... OMIM:309000
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Exercise-Induced Malignant Hyperthermia
Oliguria, Dry skin, Acute kidney injury, Crackles, Tachypnea, Confusion, Lethargy, Hypocapnia, De... ORPHA:466650
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Xeroderma Pigmentosum
Aminoaciduria, Erythema, Dry skin ORPHA:910
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Renal Fanconi syndrome, Proteinuria, Acute kidney injury, Pulmonary embolism, Chronic... ORPHA:447
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest, Lethargy OMIM:608643
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Redundant neck skin, Micropenis, Respiratory distress ORPHA:2519
Ethylene Glycol Poisoning
Renal tubular dysfunction, Hematuria, Decreased urine output, Drowsiness, Tachypnea, Coma, Abnorm... ORPHA:31826
Retinitis Pigmentosa 75
Pallor OMIM:617023
Radio-Renal Syndrome
Renal agenesis, Chylothorax, Respiratory failure, Pleural effusion, Dyspnea, Multicystic kidney d... ORPHA:3015
Sim1-Related Prader-Willi-Like Syndrome
Micropenis, Obstructive sleep apnea, Central sleep apnea, Lethargy ORPHA:398079
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress, Stridor, Intercostal re... ORPHA:141083
Choanal Atresia
Tracheomalacia, Abnormal nasal mucus secretion, Upper airway obstruction, Respiratory distress, C... ORPHA:137914
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Cutis laxa, Dyspnea, Pulmonary arterial hypertension, Premature skin wri... ORPHA:363705
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Coma, Loss of consciousness, Confusion, Lethargy, Skin ulcer, Intrarenal ab... ORPHA:68