Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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

Disease Similarity of
Matching phenotypes Source
Neonatal respiratory distress, Excessive daytime somnolence, Increased urinary taurine OMIM:237400
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:239510
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria, Attention deficit hyperactivity disorder OMIM:204750
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Histidinuria, Citrullinuria, Hyperlysinuria OMIM:268700
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Ataxia, Hyperlysinuria, Cystinuria OMIM:222350
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Coma, Lethargy, Hyperlysinuria OMIM:238750
Hyperprolinemia, Type I
Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, Hyperactivity OMIM:239500
Tiglic Acidemia
Aminoaciduria OMIM:275190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Carnosinuria OMIM:212200
Hyperthreoninuria OMIM:273770
Hyperlysinuria OMIM:236900
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Aminoaciduria ORPHA:716
Drowsiness, Valinuria OMIM:277100
Camptodactyly 1
Increased urinary taurine OMIM:114200
Dicarboxylic Aminoaciduria
Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Gait disturbance, Homocystinuria OMIM:236250
Coma, Renal tubular dysfunction, Aminoaciduria OMIM:236800
Hartnup Disorder
Neutral hyperaminoaciduria, Episodic ataxia OMIM:234500
Stimmler Syndrome
Aminoaciduria, Ataxia ORPHA:3199
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Carnosinuria OMIM:236130
Glycine Encephalopathy
Hyperglycinuria, Lethargy, Hyperactivity OMIM:605899
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Respiratory insufficiency ORPHA:147
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Pallor ORPHA:79283
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Prolinuria, Increased level of L-pyroglutamic acid in urine OMIM:260005
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Aminoaciduria, Recurrent pneumonia OMIM:268500
Methionine Malabsorption Syndrome
Tachypnea, Aminoaciduria OMIM:250900
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
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Gait ataxia, Aminoaciduria OMIM:612075
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Galactosemia Iii
Aminoaciduria, Galactosuria OMIM:230350
Gracile Syndrome
Aminoaciduria OMIM:603358
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Loss of ability to walk in early childhood, Aminoaciduria, Respiratory insuffi... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Lethargy, Aminoaciduria, Respiratory failure, Renal insufficiency OMIM:619386
Glutamate Formiminotransferase Deficiency
Aminoaciduria OMIM:229100
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dysmetria, Dystonia, Aminoaciduria, Ataxia OMIM:250620
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Ataxia ORPHA:33574
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Increased level of methylsuccinic acid in urine, Respiratory distress, Ethylm... ORPHA:26792
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Ataxia OMIM:266130
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia, Respiratory insufficiency OMIM:618224
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Nephrolithiasis, Cystathioninuria ORPHA:212
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption OMIM:235830
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption ORPHA:2158
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Emphysema, Aminoaciduria, Glycosuria, Decreased DLCO, Stage 5 chroni... OMIM:618913
Benign Paroxysmal Torticollis Of Infancy
Drowsiness, Torticollis, Pallor, Ataxia ORPHA:71518
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Homocystinuria, Lethargy OMIM:236270
Hyperglycinuria, Glycosuria OMIM:138070
Histidinuria, Hyperhistidinemia, Hyperactivity ORPHA:2157
Fanconi Renotubular Syndrome 3
Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria OMIM:615605
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... OMIM:254210
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Hyperphosphaturia, Exertional dyspnea, Gait disturbance... ORPHA:436271
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Ataxia, Abnormal pattern of respiration ORPHA:833
Thrombotic Thrombocytopenic Purpura
Coma, Hematuria, Acute kidney injury, Dyspnea, Confusion, Decreased serum creatinine, Renal insuf... ORPHA:54057
Diaminoaciduria ORPHA:90
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Retinitis Pigmentosa 42
Pallor OMIM:612943
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Lethargy, Neonatal respiratory distress ORPHA:254857
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Aminoaciduria, Hyperoxaluria, Renal insufficiency, Ne... OMIM:260000
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy, Respiratory distress OMIM:237310
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency OMIM:613388
Fanconi Renotubular Syndrome 1
Lacticaciduria, Aminoaciduria, Glycosuria, Renal insufficiency, Renal tubular dysfunction, Protei... OMIM:134600
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hyperphosphaturia, Exertional dyspnea, Aminoaciduria, Ataxia, Glycosuria, R... OMIM:220110
Tryptophanuria OMIM:600627
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hsd10 Disease
Gait disturbance, Elevated urinary 3-hydroxybutyric acid, Ataxia, Abnormal urinary acylglycine pr... ORPHA:391417
Retinitis Pigmentosa 81
Pallor OMIM:617871
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Pallor ORPHA:228312
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... OMIM:605809
Isovaleric Acidemia
Hyperglycinuria, Coma, Lethargy OMIM:243500
Lujo Hemorrhagic Fever
Coma, Lethargy, Dyspnea ORPHA:319213
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Lethargy, Hyperactivity OMIM:274270
Ornithine Transcarbamylase Deficiency
Aminoaciduria ORPHA:664
Hypersarcosinuria, Ataxia ORPHA:3129
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lethargy, Respiratory failure, Respiratory insufficiency OMIM:605711
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated urinary 4-hydroxybutyric acid, Ataxia, Increased level of gamma-aminobuty... OMIM:271980
Retinitis Pigmentosa 60
Pallor OMIM:613983
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Dystonia, Aminoaciduria, Athetosis, Respiratory insufficiency due to muscle we... OMIM:612073
Tryptophanuria With Dwarfism
Tryptophanuria, Gait disturbance, Ataxia OMIM:276100
Spontaneous Periodic Hypothermia
Gait disturbance, Reduced consciousness/confusion, Ataxia, Abnormal pattern of respiration, Pallor ORPHA:29822
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Respiratory distress, Generalized aminoaciduria, Glutaric aciduria, Hypogly... OMIM:231680
Breath-Holding Spells
Pallor, Loss of consciousness OMIM:607578
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Bardet-Biedl Syndrome 16
Renal insufficiency, Respiratory distress, Renal dysplasia, Renal cyst, Renal agenesis, Abnormali... OMIM:615993
Multiple Carboxylase Deficiency
Coma, Lethargy, Tachypnea, Respiratory distress, Ataxia, Organic aciduria ORPHA:148
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Coma, Medium chain dicarboxylic aciduria, Lethargy OMIM:201450
Cirrhosis, Familial
Pulmonary arterial hypertension, Lethargy, Increased level of L-fucose in urine OMIM:215600
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Renal insufficiency, Lethargy, Respiratory insufficiency ORPHA:28
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Central apnea, Ataxia, Confusion ORPHA:71277
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Methylmalonic aciduria, Aminoaciduria, Ataxia ORPHA:1933
Evans Syndrome
Lethargy, Dyspnea, Epistaxis, Petechiae, Pallor ORPHA:1959
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Methylmalonic aciduria, Pulmonary arterial hypertension, Tachypnea, Homocystinuria OMIM:614857
Acute kidney injury, Reduced consciousness/confusion, Gait imbalance, Respiratory distress ORPHA:673
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy, Ataxia OMIM:618225
Febrile Infection-Related Epilepsy Syndrome
Cough, Lethargy, Sinusitis ORPHA:163703
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
Galactosemia I
Increased level of galactitol in urine, Aminoaciduria, Galactosuria, Albuminuria OMIM:230400
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Pallor, Lethargy ORPHA:276608
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Argininosuccinic Aciduria
Oroticaciduria, Aminoaciduria, Ataxia ORPHA:23
Dimethylglycine Dehydrogenase Deficiency
Elevated urinary N,N-dimethylglycine level OMIM:605850
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Ethylmalonic aciduria OMIM:201470
Dermatitis, Atopic
Allergic rhinitis, Facial erythema, Asthma, Pallor, Dry skin OMIM:603165
Optic Atrophy 9
Pallor OMIM:616289
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Tachypnea, Respiratory distress, Ataxia, Organic aciduria ORPHA:79242
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Respiratory distress, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Respiratory insufficiency OMIM:618228
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Lethargy OMIM:613710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia OMIM:618683
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Exertional dyspnea, Ataxia, Fatigable weakness, Dicarboxylic aciduria, Elevated u... ORPHA:42
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Proximal tubulopath... OMIM:300009
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency OMIM:618226
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Apneic episodes precipitated by illness, fatigue, stress, Episodic ataxia OMIM:312170
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Acute Myelomonocytic Leukemia
Dyspnea, Pallor ORPHA:517
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Ebola Hemorrhagic Fever
Coma, Restrictive ventilatory defect, Lethargy, Cough, Epistaxis, Renal insufficiency, Proteinuria ORPHA:319218
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Coma, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid in urine, 3-Methylglu... OMIM:246450
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Severe Acute Respiratory Syndrome
Dyspnea, Acute kidney injury, Respiratory distress, Cough, Respiratory failure requiring assisted... ORPHA:140896
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Homocystinuria, Methylmalonic aciduria, Athetosis OMIM:309541
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Gait disturbance, Homocystinuria OMIM:250940
Fructose-1,6-Bisphosphatase Deficiency
Coma, Dyspnea, Respiratory distress, Excessive daytime somnolence, Episodic tachypnea, Reduced co... ORPHA:348
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria ORPHA:163690
Fructose-1,6-Bisphosphatase Deficiency
Coma, Apnea, Lethargy, Dyspnea, Increased urinary glycerol, Hyperventilation OMIM:229700
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:276556
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Spastic ataxia, Methylmalonic aciduria, Homocystinuria OMIM:277410
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Pallor, Ataxia OMIM:500007
Peripheral Cone Dystrophy
Pallor OMIM:609021
Histidinuria, Hyperhistidinemia OMIM:235800
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Respiratory distress, Elevated circulating creatinine concentration, C... OMIM:274150
Propionic Acidemia
Coma, Dystonia, Lethargy, Apnea, Hyperglycinuria, Tachypnea, Increased level of hippuric acid in ... OMIM:606054
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Glycosuria, Tubuloint... OMIM:614817
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Ataxia, Proteinuria OMIM:603585
Gaucher Disease Type 2
Dystonia, Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Wilson Disease
Coma, Dystonia, Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, Renal tubular dysfu... OMIM:277900
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Leber Congenital Amaurosis 1
Hyperthreoninuria OMIM:204000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:276575
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Urinary incontinence... ORPHA:255
Interstitial Lung And Liver Disease
Cough, Dyspnea, Aminoaciduria, Respiratory insufficiency OMIM:615486
Staphylococcal Necrotizing Pneumonia
Lethargy, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infe... ORPHA:36238
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Netherton Syndrome
Emphysema, Aminoaciduria, Ectopic kidney, Asthma, Hydronephrosis, Dry skin ORPHA:634
Sialidosis Type 1
Gait disturbance, Aminoaciduria, Ataxia, Urinary excretion of sialylated oligosaccharides, Increa... ORPHA:812
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Ataxia OMIM:249270
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Perching Syndrome
Respiratory distress OMIM:617055
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:276580
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Respiratory distress, Ataxia, Confusion, Drowsiness, Loss of consciousness ORPHA:927
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Dystonia, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinin... ORPHA:79233
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Lethargy, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Pallor, Loss of consciousness ORPHA:324575
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy OMIM:617105
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Tachypnea, Loss of consciousness ORPHA:247525
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Respiratory failure, Ataxia, Respiratory insufficiency OMIM:614299
Myopathy And Diabetes Mellitus
Inability to walk, Delirium, Respiratory distress, Progressive cerebellar ataxia, Tip-toe gait ORPHA:2596
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Respiratory distress, Renal insufficiency ORPHA:79312
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Hyperparathyroidism, Neonatal Severe
Dyspnea, Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Tachypnea OMIM:239200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis, Pallor OMIM:611590
Glycerol Kinase Deficiency
Coma, Lethargy, Increased urinary glycerol, Loss of consciousness OMIM:307030
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Lethargy OMIM:610498
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Inability to walk, Organic aciduria, Respiratory insufficiency due to muscle weakness OMIM:617184
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Respiratory distress, Bradykinesia ORPHA:240085
Gait disturbance, Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Pro... ORPHA:213
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Ketonuria, Lethargy, Apnea OMIM:210200
2P21 Microdeletion Syndrome
Nephrolithiasis, Cystinuria ORPHA:163693
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Delirium, Lethargy, Hematuria, Cystathioninuria, Nephropathy, Confusion, Hemolytic-uremic syndrom... OMIM:277400
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Primary Lateral Sclerosis, Juvenile
Spastic gait, Pallor OMIM:606353
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia OMIM:246900
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Retinitis Pigmentosa 70
Pallor OMIM:615922
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin OMIM:274400
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor, Exertional dyspnea ORPHA:90037
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance, 3-Methylglutaconic aciduria OMIM:618120
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
D-Glyceric Aciduria
Aminoaciduria OMIM:220120
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Respiratory distress OMIM:614741
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tubulointerstitial fibrosis, Cough, Respiratory failure, Tachypnea OMIM:263000
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Ketonuria, Lethargy OMIM:615751
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Apnea, Dystonia, Facial erythema, Pallor ORPHA:439218
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Lethargy, Glycosuria, Drowsiness, Renal Fanconi syndrome, Pallor, Proteinuria ORPHA:263455
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Ventilator dependence with inability to wean, Respirato... ORPHA:254875
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Tachypnea, Organic aciduria, Hyperventilation OMIM:253270
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Scrub Typhus
Restrictive ventilatory defect, Lethargy, Dyspnea, Cough, Reduced consciousness/confusion, Renal ... ORPHA:83317
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Pallor ORPHA:49827
Argininosuccinic Aciduria
Coma, Lethargy, Aminoaciduria, Ataxia, Oroticaciduria OMIM:207900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Lethargy, Methylmalonic aciduria, Cystathioninuria OMIM:277380
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Respiratory insufficiency, Renal insufficiency ORPHA:27
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Redundant ... OMIM:619003
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough ORPHA:50251
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology ORPHA:324581
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Dyspnea, Gait disturbance, Ataxia, Tachypnea ORPHA:765
Acquired Methemoglobinemia
Coma, Dyspnea, Respiratory distress, Confusion, Drowsiness, Hypoxemia, Loss of consciousness ORPHA:464453
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Respiratory distress OMIM:618006
Autoimmune Hemolytic Anemia
Dyspnea, Abnormal urinary color, Pallor ORPHA:98375
Meningococcal Meningitis
Lethargy, Purpura, Reduced consciousness/confusion, Drowsiness, Neonatal respiratory distress, Pe... ORPHA:33475
Myoclonus, Intractable, Neonatal
Apnea, Athetosis, Pallor OMIM:617235
Methylmalonic Aciduria, Cblb Type
Coma, Lethargy, Respiratory distress, Methylmalonic aciduria, Ketonuria OMIM:251110
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Retinitis Pigmentosa 27
Pallor OMIM:613750
Hypercalcemia, Infantile, 1
Lethargy, Polyuria, Hypercalciuria, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria OMIM:210550
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Low-molecular-weight proteinuria, Elevated circulating creatinine concen... ORPHA:411634
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Lethargy, Dry skin OMIM:255900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Lethargy, Glycosuria ORPHA:2089
Tyrosinemia, Type Iii
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276710
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Fumarase Deficiency
Pallor, Aminoaciduria OMIM:606812
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Pallor, Exertional dyspnea ORPHA:90036
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Respiratory failure, Ataxia OMIM:615838
Retinitis Pigmentosa 73
Pallor OMIM:616544
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Ataxia, Bradykinesia, Drowsiness, Oculogyric crisis, Falls, Pallor ORPHA:13
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria OMIM:614520
Methylmalonic Aciduria, Cbla Type
Coma, Lethargy, Respiratory distress, Methylmalonic aciduria, Ketonuria OMIM:251100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor, Respiratory insufficiency due to muscle weakness OMIM:608423
Canavan Disease
Elevated urinary N-acetylaspartic acid level OMIM:271900
Diffuse Alveolar Hemorrhage
Restrictive ventilatory defect, Hematuria, Dyspnea, Elevated circulating creatinine concentration... ORPHA:90060
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hyperphosphaturia, Glycosuria OMIM:227810
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Posterior Urethral Valve
Dysuria, Lethargy, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilate... ORPHA:93110
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Central Diabetes Insipidus
Excessive daytime somnolence, Nocturia, Lethargy ORPHA:178029
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Dicarboxylic aciduria, Tachypnea, Respiratory arrest, Exercise-induced myoglobinuria OMIM:201475
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tubular acidosis, Hy... ORPHA:2088
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color, Ataxia ORPHA:2116
Beta-Ketothiolase Deficiency
Coma, Cough, Excessive daytime somnolence, Reduced consciousness/confusion, Ataxia, Tachypnea, Ke... ORPHA:134
Mercury Poisoning
Dystonia, Dyspnea, Acute kidney injury, Respiratory distress, Interstitial pneumonitis, Confusion... ORPHA:330021
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Dystonia, Wheezing, Restrictive ventilatory defect, Respiratory distress, Difficulty walking, Oxy... OMIM:610978
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Coma, Lethargy, Loss of consciousness ORPHA:156
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Apnea, Aminoaciduria OMIM:214110
Coma, Lethargy, Cough, Epistaxis, Ataxia ORPHA:99745
Nipah Virus Disease
Coma, Cough, Respiratory distress ORPHA:99825
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:140350
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Elevated urinary epinephri... ORPHA:94080
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Lethargy, Gait disturbance, Ataxia, Homocystinuria ORPHA:395
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress OMIM:300934
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Tubulointerstitial nephritis, Methylmalonic aciduria, Stage 5 chronic kidney disease OMIM:251000
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Respiratory distress, Gait disturbance, Blepharospasm, Laryngeal dystonia, To... ORPHA:98805
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Lethargy, Unsteady gait OMIM:603896
Carnitine Deficiency, Systemic Primary
Confusion, Coma, Excessive daytime somnolence, Lethargy OMIM:212140
Leigh Syndrome
Dystonia, Lacticaciduria, Renal tubular dysfunction, Complex organic aciduria, Generalized aminoa... ORPHA:506
Marburg Hemorrhagic Fever
Cough, Lethargy, Hematuria ORPHA:99826
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Decreased urinary urate, Increased urinary thiosulfate, Increased urinary taurine, X... OMIM:252150
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Focal dystonia, Bradykinesia ORPHA:240103
Maple Syrup Urine Disease
Coma, Lethargy, Increased level of hippuric acid in urine, Ataxia OMIM:248600
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Increased urine alpha-ketoglutarate concentration, Ataxia ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 36
Aciduria OMIM:617950
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Oromandibular Dystonia
Respiratory distress, Blepharospasm, Lingual dystonia, Laryngeal dystonia, Torticollis, Generaliz... ORPHA:93958
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Lysinuric Protein Intolerance
Coma, Cutis laxa, Aminoaciduria, Respiratory insufficiency, Stage 5 chronic kidney disease, Oroti... OMIM:222700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lethargy, Respiratory distress, Enlarged kidney, Respiratory insufficiency, Hydronephrosis... OMIM:608836
Central Neurocytoma
Coma, Lethargy, Ataxia ORPHA:73256
Fructose Intolerance, Hereditary
Coma, Lethargy, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Bicarbonaturia,... OMIM:229600
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased serum creatinine OMIM:300539
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Rheumatic Fever
Gait disturbance, Epistaxis, Respiratory insufficiency, Erythema, Nephrotic syndrome, Sinusitis, ... ORPHA:3099
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Ataxia OMIM:613839
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Pallor, Exertional dyspnea ORPHA:90033
Dystonia, Lethargy, Gait disturbance, Ataxia, Renal insufficiency, Gait imbalance ORPHA:352
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Sudden episodic apnea, Respiratory insufficiency, Oliguria, Dicarboxylic aciduria ORPHA:159
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Respiratory ins... OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Difficulty walking, Cough, Waddling gait ORPHA:86812
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Lethargy, Dysmetria, Episodic respiratory distress OMIM:301790
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Apnea, Lethargy, Hypoglycemic coma, 3-Methylglutaric aciduria, Ataxia, Tachypnea, Ketonuria... ORPHA:20
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia OMIM:130950
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy OMIM:619064
Coma, Respiratory distress, Elevated urinary norepinephrine, Elevated urinary epinephrine, Tachypnea ORPHA:3299
Diaminoaciduria, Spastic gait, Oroticaciduria, Hyperactivity OMIM:207800
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystinuria OMIM:606407
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Pseudo-Torch Syndrome 2
Petechiae, Lethargy, Respiratory insufficiency OMIM:617397
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hemolytic-... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hemolytic-... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hemolytic-... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hemolytic-... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hemolytic-... OMIM:612926
Dengue Fever
Petechiae, Lethargy, Cardiorespiratory arrest, Epistaxis ORPHA:99828
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria, Ataxia OMIM:616084
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Classic Galactosemia
Dystonia, Lethargy, Gait disturbance, Ataxia, Gait imbalance, Attention deficit hyperactivity dis... ORPHA:79239
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Neonatal respiratory distress, N... OMIM:610921
Kanzaki Disease
Aminoaciduria, Increased urinary O-linked sialopeptides, Dry skin OMIM:609242
Hemochromatosis Type 2
Lethargy ORPHA:79230
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Childhood Absence Epilepsy
Urinary incontinence, Pallor, Attention deficit hyperactivity disorder, Hyperventilation ORPHA:64280
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Coma, Lethargy OMIM:255120
Pallor, Skin ulcer, Respiratory insufficiency ORPHA:848
Bacterial Toxic-Shock Syndrome
Tachypnea, Respiratory distress, Elevated circulating creatinine concentration, Recurrent urinary... ORPHA:36234
Susac Syndrome
Confusion, Lethargy, Gait ataxia ORPHA:838
Biotinidase Deficiency
Apnea, Lethargy, Tachypnea, Ataxia, Organic aciduria OMIM:253260
Abnormality of renal excretion, Lethargy, Acute kidney injury, Palmoplantar cutis laxa, Aspiratio... ORPHA:173
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria, Abnormal tubuloin... ORPHA:411629
Recurrent pneumonia, Decreased urine alpha-ketoglutarate concentration, Cystinuria, Argininuria, ... ORPHA:2203
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Lethargy OMIM:600649
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Aminoaciduria, Ataxia OMIM:124000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Difficulty walking OMIM:264700
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Glomerulopathy, Hemolytic-uremic syndrome, Drowsiness, Lo... ORPHA:2169
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea, Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Combined Oxidative Phosphorylation Deficiency 11
Lethargy, Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Peroxisome Biogenesis Disorder 1A (Zellweger)
Albuminuria, Aminoaciduria, Redundant neck skin, Hydronephrosis, Hypospadias, Renal cortical micr... OMIM:214100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Biotinidase Deficiency
Apnea, Lethargy, Respiratory distress, Ataxia, Organic aciduria, Hyperventilation ORPHA:79241
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Cardiorespiratory arrest, Dicarboxylic aciduria OMIM:212138
Pauci-Immune Glomerulonephritis
Dyspnea, Acute kidney injury, Purpura, Nephrotic range proteinuria, Elevated circulating creatini... ORPHA:93126
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Episodic ataxia, Lethargy, Ataxia OMIM:311250
Ogden Syndrome
Lethargy, Cutis laxa, Excessive daytime somnolence, Torticollis, Shuffling gait ORPHA:276432
Fluctuations in consciousness, Coma, Lethargy, Reduced consciousness/confusion ORPHA:97279
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy OMIM:233910
Citrullinemia Type Ii
Coma, Delirium, Lethargy, Enuresis, Confusion, Drowsiness, Hyperactivity, Fluctuations in conscio... ORPHA:247585
Rift Valley Fever
Coma, Lethargy, Purpura ORPHA:319251
Yellow Fever
Lethargy, Cardiorespiratory arrest, Nephropathy, Oliguria, Renal insufficiency, Proteinuria ORPHA:99829
Cold Agglutinin Disease
Abnormal urinary color, Pallor ORPHA:56425
Avian Influenza
Dyspnea, Acute kidney injury, Respiratory distress, Pleural effusion, Cough, Nonproductive cough,... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Aminoaciduria OMIM:619055
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Respiratory failure, Respiratory insufficiency, Myoglobinuria OMIM:609015
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Elevated circulating creatinine concentration, Nonprod... ORPHA:79126
American Trypanosomiasis
Cough, Dyspnea, Pallor ORPHA:3386
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Ataxia OMIM:618426
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Cardiogenic Shock
Coma, Dyspnea, Elevated circulating creatinine concentration, Reduced consciousness/confusion, In... ORPHA:97292
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia OMIM:201100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Lethargy, Cardiorespiratory arrest, Blepharospasm, Oculogyric crisis, Torticollis, Limb dy... OMIM:608643
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Reversible renal ... ORPHA:90051
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Myopathic Ehlers-Danlos Syndrome
Toe walking, Pallor ORPHA:536516
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Difficulty walking, Limb ataxia, Ataxia, D... OMIM:617675
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Ataxia, Respiratory insufficiency, Stridor, Nocturnal hypoventilation OMIM:211530
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Confusion, Coma, Lethargy OMIM:238970
Respiratory distress, Pleural effusion, Cough, Pneumonia, Confusion ORPHA:3392
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, Craniofacial dystonia, Confusion OMIM:607483
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress OMIM:615042
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Lethargy, Ataxia OMIM:237300
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Upper airway obstruction, Stridor ORPHA:142
Rhinitis, Skin ulcer, Pallor ORPHA:507
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Multiple renal cysts, Respiratory distress ORPHA:66637
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria OMIM:251880
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Xanthinuria, Increased urinary hypoxanthine, Increased urinary taurine OMIM:252160
Dravet Syndrome
Progressive gait ataxia, Pallor, Bradykinesia ORPHA:33069
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Lassa Fever
Pleural effusion, Cough, Lethargy, Cardiorespiratory arrest ORPHA:99824
Lysinuric Protein Intolerance
Coma, Abnormal renal tubule morphology, Lethargy, Renal amyloidosis, Membranous nephropathy, Resp... ORPHA:470
Inhalational Anthrax
Confusion, Dyspnea, Respiratory distress ORPHA:247257
Leigh Syndrome With Cardiomyopathy
Abnormal renal tubule morphology, Dystonia, Apnea, Renal agenesis, Respiratory distress, Central ... ORPHA:70474
Waldenström Macroglobulinemia
Purpura, Pleural effusion, Epistaxis, Reduced consciousness/confusion, Ataxia, Respiratory insuff... ORPHA:33226
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Methioninuria OMIM:236200
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Difficulty walking ORPHA:289157
Molybdenum Cofactor Deficiency, Complementation Group C
Increased urinary taurine OMIM:615501
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Delirium, Lethargy, Respiratory distress, Ataxia, Glomerulopathy, Hemolytic-uremic syndrome, Pulm... ORPHA:79282
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria OMIM:239000
Transcobalamin Ii Deficiency
Lethargy, Methylmalonic aciduria, Ataxia OMIM:275350
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Pallor ORPHA:3226
Complete Atrioventricular Septal Defect
Wheezing, Lethargy, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, ... ORPHA:1329
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Difficulty walking, To... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Difficulty walking, To... ORPHA:98914
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Lethargy, Confusion, Progressive cerebellar ataxia, Spastic gait, Oroticaciduria, Tachypnea ORPHA:415
Goodpasture Syndrome
Erythrocyte cylindruria, Restrictive ventilatory defect, Tachypnea, Exertional dyspnea, Cough, Cy... OMIM:233450
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia OMIM:608799
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Mitochondrial Trifunctional Protein Deficiency
Coma, Lethargy, Toe walking, Respiratory insufficiency, Respiratory failure ORPHA:746
Citrullinemia, Classic
Oroticaciduria, Coma, Lethargy, Ataxia OMIM:215700
Encephalitis Lethargica
Urinary incontinence, Coma, Lethargy, Hyperventilation ORPHA:83600
Myotonic Dystrophy 1
Excessive daytime somnolence, Respiratory distress OMIM:160900
Senior-Loken Syndrome 8
Nephronophthisis, Pallor OMIM:616307
Tay-Sachs Disease
Pallor, Aspiration OMIM:272800
Letterer-Siwe Disease
Dyspnea, Pallor OMIM:246400
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Pallor OMIM:609053
Retinitis Pigmentosa 51
Pallor OMIM:613464
Micropenis, Respiratory distress ORPHA:370924
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduria, Aminoacidu... ORPHA:534
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Hemoglobinuria, Pulmonary embolism, Pulmonary arterial hypertension, P... ORPHA:447
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:29072
Aregenerative Anemia
Dyspnea, Fatigable weakness of skeletal muscles, Pallor ORPHA:101096
Episodic Ataxia Type 1
Tip-toe gait, Respiratory distress ORPHA:37612
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Familial Hypoaldosteronism
Decreased urinary potassium, Lethargy, Proximal renal tubular acidosis, Renal salt wasting ORPHA:427
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea ORPHA:26793
Xeroderma Pigmentosum
Dry skin, Aminoaciduria, Ataxia, Erythema ORPHA:910
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Confusion, Lethargy, Dicarboxylic aciduria, Myoglobinuria ORPHA:71212
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Dystonia, Megacystis, Respiratory distress, Ataxia, Neonatal respiratory dis... ORPHA:209905
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Dry skin ORPHA:226313
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Pallor, Purpura OMIM:254450
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Dry skin ORPHA:99832
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Coma, Acute kidney injury, Purpura, Anuria, Elevated circulating creatinine concentration, Hemoly... OMIM:235400
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Ataxia OMIM:618321
Moebius Syndrome
Dysdiadochokinesis, Gait disturbance, Micropenis, Respiratory distress OMIM:157900
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Respiratory distress OMIM:615597
Cocaine Intoxication
Coma, Delirium, Hematuria, Acute kidney injury, Wheezing, Respiratory distress, Cough, Reduced co... ORPHA:90068
Histiocytoid Cardiomyopathy
Lethargy, Cough, Drowsiness, Renal cyst, Tachypnea, Pallor, Loss of consciousness ORPHA:137675
Nephrolithiasis, Aminoaciduria ORPHA:56
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Ethylene Glycol Poisoning
Coma, Episodic respiratory distress, Hematuria, Renal tubular dysfunction, Tachypnea, Renal tubul... ORPHA:31826
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Recurrent pneumonia, Respiratory distress, Focal segmental glomerulosclerosis,... OMIM:617303
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Exercise-Induced Malignant Hyperthermia
Hypocapnia, Delirium, Lethargy, Acute kidney injury, Crackles, Ataxia, Confusion, Oliguria, Tachy... ORPHA:466650
Irida Syndrome
Pallor ORPHA:209981
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Lethargy, Unilateral renal agenesis ORPHA:79284
Necrotizing Enterocolitis
Apnea, Lethargy ORPHA:391673
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Elevated circul... ORPHA:91500
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Fatigable weakness of speech muscles, Generalized aminoaciduria, Lin... ORPHA:404454
Infection-Related Hemolytic Uremic Syndrome
Coma, Dyspnea, Acute kidney injury, Anuria, Nephrotic range proteinuria, Reduced consciousness/co... ORPHA:544482
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Radio-Renal Syndrome
Renal agenesis, Respiratory distress, Dyspnea, Pleural effusion, Multicystic kidney dysplasia, Re... ORPHA:3015
Amoebiasis Due To Free-Living Amoebae
Coma, Lethargy, Intrarenal abscess, Pneumonia, Ataxia, Confusion, Skin ulcer, Sinusitis, Loss of ... ORPHA:68
Retinitis Pigmentosa 75
Pallor OMIM:617023
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Lacticaciduria, Dystonia, Ataxia, Neonatal death, Aspiration pneumonia, Ketonuria OMIM:619167
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Redundant neck skin, Micropenis, Respiratory distress ORPHA:2519
Nephroblastomatosis, Respiratory distress, Cystic renal dysplasia, Nephrogenic rest, Enlarged kid... OMIM:608022
Cystinosis, Nephropathic
Generalized aminoaciduria, Polyuria, Glycosuria, Microscopic hematuria, Stage 5 chronic kidney di... OMIM:219800
Sim1-Related Prader-Willi-Like Syndrome
Obstructive sleep apnea, Lethargy, Micropenis, Central sleep apnea ORPHA:398079
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor, Hemoglobinuria OMIM:300908
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Respiratory distress, Enlarged kidney, Pulmonary arterial hypertension, Hepara... ORPHA:505248
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia, Respiratory distress OMIM:184260
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Sleep apnea, Fatigable weakness of respiratory muscles, Respiratory distress, ... ORPHA:365
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102