Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lactamase, beta 2
Synonyms:
E430032H21Rik,  Cgi-83

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 Lactb2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Lactb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex I Deficiency, Nuclear Type 3
Respiratory insufficiency, Hepatomegaly, Lethargy OMIM:618224
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Lethargy ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatic steatosis OMIM:615595
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Respiratory insufficiency, Hepatomegaly, Lethargy ORPHA:28
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Abnormal pattern of... ORPHA:77260
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Fatal liver failure in infancy, Lethargy ORPHA:254857
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Azoospermia, Lethargy OMIM:602390
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Coma, Confusion, Elevated hepatic transaminase, Decreased carnitine level in liver,... OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Respiratory arrest, Macrovesicular hepatic steatosis, Elevated hepatic transaminase... OMIM:600649
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619874
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, G... OMIM:612526
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated hepatic transaminase, Long eyelashes, Synophrys, Lethargy, Pulmonary arter... OMIM:619064
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Lethargy, Elevated hepatic transaminase OMIM:246900
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, He... ORPHA:280356
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hepatomegaly, Respiratory failure, Lethargy OMIM:614299
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Coma, Elevated hepatic transaminase, Distal arthrogryposi... ORPHA:42
Multiple Symmetric Lipomatosis
Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system... ORPHA:50251
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Pancreatitis, Hepatomegaly, Polycystic ovaries, Hepatic steatosis ORPHA:79084
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Coma, Lethargy, Confusion OMIM:237310
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Coma, Pancreatitis, Hepatomegaly, Lethargy ORPHA:289916
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Coma, Hepatomegaly, Hyperventilation, Dyspnea, Lethargy OMIM:229700
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Coma, Hepatomegaly, Delirium, Confusion, Drowsiness, Lethargy, Loss of cons... ORPHA:927
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Coma, Pancreatitis, Hepatomegaly, Splenomegaly, Lethargy ORPHA:79312
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans... ORPHA:79230
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Lethargy OMIM:605711
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Drowsiness, Lethargy, Loss... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Focal pancreatic islet hyp... ORPHA:276575
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... ORPHA:254864
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly, Micropenis OMIM:613861
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Confusion ORPHA:158
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Glut1 Deficiency Syndrome 1
Confusion, Paroxysmal lethargy, Lethargy OMIM:606777
Carnitine Palmitoyltransferase I Deficiency
Coma, Hepatomegaly, Elevated hepatic transaminase, Lethargy, Hepatic steatosis, Cardiomegaly OMIM:255120
Crigler-Najjar Syndrome
Lethargy, Jaundice, Abnormality of the liver ORPHA:205
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Tachypnea, Lethar... OMIM:201475
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Drowsiness, Lethargy, Loss... ORPHA:276580
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... ORPHA:70589
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Lethargy, Cough ORPHA:163703
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Lethargy, Loss of consciousness ORPHA:156
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Lethargy OMIM:201450
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferas... OMIM:619048
Typhoid
Coma, Hepatomegaly, Splenomegaly, Cough, Epistaxis, Lethargy ORPHA:99745
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... OMIM:613490
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy, Central apnea ORPHA:71277
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness ORPHA:324575
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Lethargy OMIM:618228
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly, Cough, Pulmonary... ORPHA:2414
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Confusion, Acute infectious pneumonia... ORPHA:36238
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Pancreatitis, Hepatomegaly, Respiratory insufficiency, Lethargy ORPHA:27
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Hepatic steatosis ORPHA:79087
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy OMIM:618225
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... OMIM:254210
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Coma, Episodic tachypnea, Apneic episodes in infancy, Elevate... ORPHA:348
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Pancreatic islet-cell hyperplasia, Lethargy ORPHA:276608
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Lethargy OMIM:617105
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Hepatomegaly, Splenomegaly ORPHA:139406
Galactosemia
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Cryptorchidism, Ascites,... ORPHA:352
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Generalized hirsutism, Reduced intraabdominal adipose tissue... ORPHA:363400
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased connective tissue ORPHA:238329
Multiple Carboxylase Deficiency
Respiratory distress, Coma, Alopecia, Tachypnea, Lethargy ORPHA:148
Citrullinemia Type I
Coma, Hepatic failure, Tachypnea, Lethargy, Loss of consciousness ORPHA:247525
Bardet-Biedl Syndrome 16
Respiratory distress, External genital hypoplasia, Hypogonadism OMIM:615993
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Pulmonary arterial hypertension, Ascites,... OMIM:215600
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Familial Partial Lipodystrophy, Dunnigan Type
Generalized hirsutism, Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodys... ORPHA:2348
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Elevated circulating thyroid-stimulating hormone concentration, Lethargy, Prolo... ORPHA:95717
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Hepatomegaly ORPHA:2432
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Evans Syndrome
Dyspnea, Epistaxis, Jaundice, Lethargy ORPHA:1959
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Coma, Hepatocellular carcinoma, Confusion, Elevated circulating alanine aminotransf... OMIM:603471
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Lethargy OMIM:618226
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Lethargy OMIM:201470
Citrullinemia Type Ii
Fluctuations in consciousness, Pancreatitis, Hepatomegaly, Coma, Hepatocellular carcinoma, Deliri... ORPHA:247585
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Coma, Hepatomegaly, Confusion, Acute hepatitis, Lethargy OMIM:238970
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Apnea, Coma, Lethargy OMIM:210200
Myotonic Dystrophy 1
Cholelithiasis, Respiratory distress, Testicular atrophy, Frontal balding, Hypogonadism, Excessiv... OMIM:160900
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Hepatomegaly, Elevated hepatic transaminase, Cardiorespiratory arrest, Hepatic steatosis, L... OMIM:212138
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hepatomegaly, Abnormal labia majora morphology, Loss of... ORPHA:435660
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Cirrhosis, Loss of gluteal subcutaneous adipose t... OMIM:604367
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Thin skin ORPHA:261304
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Lethargy OMIM:610498
Glycine Encephalopathy
Lethargy OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Classic Galactosemia
Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Cryptorchidism, Ascites, Jaundice, ... ORPHA:79239
Glycerol Kinase Deficiency
Cryptorchidism, Coma, Lethargy, Loss of consciousness OMIM:307030
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Coma, Pancreatitis, Hepatomegaly, Lethargy OMIM:251000
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Lethargy, Hepatic failure ORPHA:2394
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Holocarboxylase Synthetase Deficiency
Respiratory distress, Coma, Alopecia, Tachypnea, Lethargy ORPHA:79242
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Central sleep apnea, Hypopigmentation of hair, Respiratory failure, Abn... ORPHA:70472
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Loss of ... ORPHA:79083
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Cidec-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Loss of s... ORPHA:435651
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Hepatic steatosis OMIM:613877
Scrub Typhus
Splenomegaly, Cough, Restrictive ventilatory defect, Reduced consciousness/confusion, Dyspnea, Le... ORPHA:83317
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Propionic Acidemia
Apnea, Coma, Pancreatitis, Hepatomegaly, Tachypnea, Lethargy OMIM:606054
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Camptodactyly of finger, Restrictive ventilatory... OMIM:614399
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Respiratory insuff... OMIM:608836
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Hepatomegaly, Respiratory insufficiency, Elevated hepatic tr... OMIM:617397
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Hepatic steatosis OMIM:615703
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Congenital Generalized Lipodystrophy
Hypertrichosis, Low anterior hairline, Hepatomegaly, Precocious puberty in females, Cirrhosis, Ov... ORPHA:528
Malaria
Respiratory distress, Reduced consciousness/confusion ORPHA:673
Dengue Fever
Hepatomegaly, Cardiorespiratory arrest, Ascites, Epistaxis, Lethargy ORPHA:99828
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hepatom... OMIM:151660
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Increased intraabdominal fat, Polycystic ovaries, Hepatic steatosis ORPHA:79085
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Decreased liver function, Hepatomegaly, Flexion contracture, Hepatic failur... ORPHA:367
Severe Canavan Disease
Lethargy ORPHA:314911
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
3-Methylglutaconic Aciduria Type 1
Coma, Hepatomegaly ORPHA:67046
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypogonadism, Cr... OMIM:615381
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Coproporphyria, Hereditary
Hepatomegaly, Respiratory paralysis, Splenomegaly, Confusion, Jaundice OMIM:121300
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Coma, Increased hepatic glycogen content, Elevated hepatic transaminase, Drowsiness... ORPHA:263455
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic h... ORPHA:465508
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Interstitial Lung Disease 2
Cirrhosis, Decreased DLCO, Cough, Dyspnea, Exertional dyspnea, Pulmonary arterial hypertension OMIM:178500
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly, Lethargy OMIM:614922
Biotinidase Deficiency
Apnea, Hepatomegaly, Alopecia, Splenomegaly, Tachypnea, Lethargy OMIM:253260
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Lethargy ORPHA:324581
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Myopathy And Diabetes Mellitus
Respiratory distress, Delirium, Achilles tendon contracture ORPHA:2596
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Hepatomegaly, Hepatic failure, Respiratory insufficiency, Elevated hepatic transaminase, Su... ORPHA:159
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Sparse body hair... ORPHA:59303
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Coma, Left ventricular hypertrophy, Respiratory insufficiency, Cholestasis, D... ORPHA:746
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Hypoventilation, Lethargy OMIM:618232
Pyruvate Dehydrogenase Deficiency
Dyspnea, Multiple lipomas, Lethargy, Tachypnea ORPHA:765
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased testicular size, Hypogonadism, Lethargy, Alopecia of scalp OMIM:201100
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Bradykinesia OMIM:614924
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Thyroid Dyshormonogenesis 1
Goiter, Lethargy, Umbilical hernia OMIM:274400
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Isolated Polycystic Liver Disease
Polycystic liver disease, Respiratory insufficiency, Hepatomegaly, Abnormality of the pancreas ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Elevated hepatic transaminase, Congenital contracture, Neonatal respiratory... OMIM:615042
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Ascites, Respiratory failure ORPHA:890
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Crackles, Nodular regenerative hyperp... ORPHA:210136
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Methylmalonic Aciduria, Cblb Type
Coma, Hepatomegaly, Respiratory distress, Lethargy OMIM:251110
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Coma, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice OMIM:618549
Hodgkin Lymphoma
Dyspnea, Hepatomegaly, Cough, Splenomegaly ORPHA:98293
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Encephalopathy, Recurrent, Of Childhood
Lethargy OMIM:130950
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Tachypnea, Cryptorchidism, Pulmonary arterial hypertension, Lethargy OMIM:614857
Acquired Methemoglobinemia
Respiratory distress, Coma, Confusion, Drowsiness, Hypoxemia, Dyspnea, Loss of consciousness ORPHA:464453
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Lethargy, Acute hepatic failure OMIM:616483
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Cholestasis, Elevated hepatic transaminase, Portal fibrosis, Hepatic st... OMIM:614300
Insulinoma
Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Coma, Primary hyperpara... ORPHA:97279
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Right ventricular hypertrophy, Crackles, Elevated pu... ORPHA:1329
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Hepatomegaly OMIM:606069
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Splenomegaly, Camptodactyly, Elevated hepatic transaminase, K... OMIM:608799
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Methylmalonic Aciduria, Cbla Type
Coma, Hepatomegaly, Respiratory distress, Lethargy OMIM:251100
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia ORPHA:240085
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonadism OMIM:613313
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Cough, Elevated hepatic transaminase, Restrictive ventilatory defect, Hypopit... OMIM:619013
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency, Elbo... ORPHA:1145
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Flexion contracture, Wrist flexion contracture, Elbow flex... ORPHA:1143
Babesiosis
Hepatomegaly, Coma, Splenomegaly, Hepatic failure, Respiratory insufficiency, Confusion, Cough, J... ORPHA:108
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Prolonged neona... ORPHA:95716
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Hepatic steatosis, Hepatomegaly OMIM:615238
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Tachypnea, Elevated hepatic transaminase,... ORPHA:26793
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... OMIM:278000
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, External genital hypoplasia, Small pituitary gland, Micropenis, Central sleep... ORPHA:398079
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Elevated circulating aspartate aminotransferase concentration, Cholest... OMIM:609015
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration... OMIM:261680
Argininosuccinic Aciduria
Hepatomegaly, Coma, Brittle hair, Dry hair, Elevated circulating aspartate aminotransferase conce... OMIM:207900
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Drowsiness, Excessive daytime somnolence, Lethargy, Loss of consciousness ORPHA:2169
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Holocarboxylase Synthetase Deficiency
Coma, Alopecia, Tachypnea, Hyperventilation, Lethargy OMIM:253270
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure OMIM:615438
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Acute Lung Injury
Respiratory distress, Tachypnea, Acute pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respiratory f... ORPHA:178320
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... OMIM:618641
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Niemann-Pick Disease, Type B
Dyspnea, Hepatomegaly, Decreased DLCO, Splenomegaly OMIM:607616
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatomegaly, Hepatic ... OMIM:618805
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Sialidosis Type 2
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Umbilical hernia, Dyspnea, Ascites ORPHA:87876
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Elevated hepatic transaminase, Hepat... ORPHA:454836
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Nipah Virus Disease
Respiratory distress, Coma, Cough ORPHA:99825
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Coma, Tachypnea, Acute pancreatitis, Elev... ORPHA:20
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormality, Portal hypert... ORPHA:1414
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated circulating asparta... OMIM:615486
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Riboflavin Deficiency
Lethargy OMIM:615026
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Lethargy OMIM:611590
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ... OMIM:256810
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Low anterior hairline, Hepatomegaly, External genital hypoplasia, Elevated ... ORPHA:329178
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Coma, Respiratory failure, Lethargy, Tachypnea OMIM:615838
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Arthrogryposis-like hand anomaly, Paradoxical respiration, Distal arthrogry... OMIM:620011
Ogden Syndrome
Inguinal hernia, Aplasia/Hypoplasia of the eyebrow, Fine hair, Excessive daytime somnolence, Cryp... ORPHA:276432
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis ORPHA:300536
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly OMIM:619751
Myxedema
Lethargy, Elevated circulating thyroid-stimulating hormone concentration, Goiter OMIM:255900
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Ambiguous genitalia, male, Bifid scrotum, Micropenis, Hypospadias, Unilater... OMIM:300219
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Magel2-Related Prader-Willi-Like Syndrome
Sleep apnea, Precocious puberty, External genital hypoplasia, Small pituitary gland, Micropenis, ... ORPHA:398069
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Small scrotum, Micropenis ORPHA:370924
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Primary Lipodystrophy
Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystrophy, Polycystic ovaries, Hepatic st... ORPHA:90970
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogonadotropic hypogonadis... OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hirsutism, Low anterior hairline, Microvesicular hepatic steatosis, Tachypnea, Increased hepatoce... OMIM:220111
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... OMIM:616278
Leukoencephalopathy With Vanishing White Matter
Lethargy OMIM:603896
Ebola Hemorrhagic Fever
Cough, Acute pancreatitis, Hepatitis, Dyspnea, Lethargy ORPHA:319218
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Small scrotum, Micropenis OMIM:615597
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... ORPHA:369
Mogs-Cdg
Hydrocele testis, Respiratory distress, Hirsutism, Apnea, Hepatomegaly, Fair hair, External genit... ORPHA:79330
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Hypoglycemic coma, Hepatic periportal necrosis, Hep... OMIM:231680
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia ORPHA:240103
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis OMIM:615980
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Wilson Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepa... ORPHA:905
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology, Confusion ORPHA:247257
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Coma, Hepatic failure, Confusion, Tachypnea, Elevated hep... ORPHA:415
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Lethargy OMIM:301790
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hirsutism, Low anterior hairline, Hepatomegaly, Flexion contracture, Spleno... OMIM:617303
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly, Alopecia OMIM:275630
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Lethargy OMIM:618120
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Jaundice OMIM:618528
Maple Syrup Urine Disease
Coma, Pancreatitis, Lethargy OMIM:248600
3-Methylglutaconic Aciduria, Type V
Hypospadias, Cryptorchidism, Microvesicular hepatic steatosis, Decreased testicular size OMIM:610198
Central Neurocytoma
Coma, Lethargy ORPHA:73256
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Central Diabetes Insipidus
Excessive daytime somnolence, Lethargy ORPHA:178029
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Nodular goiter, Dyspnea, Goiter, Stridor ORPHA:142
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Flexion contracture OMIM:616733
Acquired Generalized Lipodystrophy
Generalized hirsutism, Hepatomegaly, Cirrhosis, Generalized lipodystrophy, Acute pancreatitis, Po... ORPHA:79086
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Confusion, Elevated hepatic transaminase, Hepatic necrosis, Hepatic steato... ORPHA:71212
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Umbilical h... ORPHA:226313
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Decreased response to growth hormo... OMIM:610978
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Decreased liver function, Hepatomegaly, Increased hepatocellular lipid drop... OMIM:220110
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Hurler-Scheie Syndrome
Generalized hirsutism, Hepatomegaly, Splenomegaly, Hernia, Rhinitis ORPHA:93476
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Porphyria Cutanea Tarda
Corneal scarring, Hypertrichosis, Hirsutism, Viral hepatitis, Periportal fibrosis, Chronic hepati... ORPHA:101330
Diaphanospondylodysostosis
Respiratory distress, Inguinal hernia, Tracheomalacia, Abnormal liver lobulation, Respiratory ins... OMIM:608022
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Increased circulating prolactin concentration, Thyro... ORPHA:99832
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Lethargy ORPHA:2089
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Restrictive ventilatory defect, Emphysema,... OMIM:612387
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Goiter, Stridor ORPHA:97285
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Citrullinemia, Classic
Coma, Cirrhosis, Hepatomegaly, Lethargy OMIM:215700
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her... ORPHA:226316
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism, Hepatomegaly, Splenomegaly OMIM:615234
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, ... ORPHA:79303
Dopa-Responsive Dystonia
Lethargy ORPHA:255
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hirsutism, Reduced intraabdominal adipose tissue, Hepatomega... OMIM:608594
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Left ventricular hypertrophy, Dyspnea, Cough ORPHA:86812
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Wheezing, Jaundice, Intrahepati... OMIM:211600
Gracile Syndrome
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis ORPHA:53693
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Necrotizing Enterocolitis
Apnea, Peritonitis, Ascites, Lethargy ORPHA:391673
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Meningococcal Meningitis
Neonatal respiratory distress, Lethargy, Drowsiness, Reduced consciousness/confusion ORPHA:33475
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Alpha-Heavy Chain Disease
Alopecia, Ascites, Hepatomegaly, Splenomegaly ORPHA:100025
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice ORPHA:75234
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Thick eyebrow, Hepatomegaly, Flexion contracture, Facial hirsutism OMIM:619383
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Dpm1-Cdg
Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Camptodactyly, Elevated hepatic tr... ORPHA:79322
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... OMIM:613812
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, Hepatocellular aden... ORPHA:370
Susac Syndrome
Confusion, Lethargy ORPHA:838
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Tularemia
Respiratory distress, Confusion, Cough, Pleural effusion, Pneumonia ORPHA:3392
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Central sleep apnea, Alopecia, Hypergonado... ORPHA:2959
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Hypoxemia ORPHA:2140
Trichohepatoenteric Syndrome 2
Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Cirrhosis, Chronic hepatitis, Trichorrhexis... OMIM:614602
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Tachypnea OMIM:615751
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Cellulitis, Pneumonia ORPHA:238459
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hirsutism, Reduced intraabdominal adipose tissue, Hepatomega... OMIM:269700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Hepatomegaly OMIM:613730
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Left ventri... ORPHA:308552
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Confusion, Dyspnea, Respiratory failure, Loss of ... ORPHA:330021
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Hereditary Fructose Intolerance
Coma, Hepatomegaly, Chronic hepatic failure, Jaundice, Lethargy ORPHA:469
Histiocytoid Cardiomyopathy
Hepatomegaly, Tachypnea, Cough, Drowsiness, Polycystic ovaries, Cardiomegaly, Lethargy, Loss of c... ORPHA:137675
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Primary Pigmented Nodular Adrenocortical Disease
Hirsutism, Pituitary adenoma, Alopecia, Testicular neoplasm, Adrenal hyperplasia, Elevated hepati... ORPHA:189439
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... ORPHA:90674
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Stridor, Dyspnea, Respiratory insufficiency, Hepatomegaly OMIM:615182
Moebius Syndrome
Respiratory distress, Micropenis, Hypogonadotropic hypogonadism, Camptodactyly, Arthrogryposis mu... OMIM:157900
Sialuria
Sleep apnea, Generalized hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Hypoplastic nipp... OMIM:269921
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis, Excessive daytime somnolence, ... ORPHA:436271
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her... ORPHA:90673
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respir... OMIM:609981
Visceral Steatosis, Congenital
Coma, Hepatic steatosis, Jaundice, Lethargy OMIM:228100
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Coma, Hepatomegaly, Splenomegaly, Hepatic failure, Hypospadias, Respiratory insufficiency,... OMIM:252010
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia, Hepatomegaly, Splenomegaly OMIM:230900
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Art... OMIM:608013
Beta-Thalassemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Respiratory insufficie... ORPHA:848
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Alstrom Syndrome
Asthma, Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation ... OMIM:203800
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory distress, Splenomegaly, Respiratory insufficiency, Cholecystitis, Res... OMIM:615512
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respi... ORPHA:99931
Biotinidase Deficiency
Respiratory distress, Apnea, Alopecia, Hyperventilation, Lethargy ORPHA:79241
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Tachypnea, Cough, Neonatal respiratory distress, Nonspeci... OMIM:610921
Leigh Syndrome With Cardiomyopathy
Fluctuations in consciousness, Decreased liver function, Hypertrichosis, Apnea, Respiratory distr... ORPHA:70474
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ambiguous genitalia, Respiratory failure, Omphalocele OMIM:617895
19P13.12 Microdeletion Syndrome
Generalized hirsutism, Precocious puberty, Hypospadias, Synophrys, Arthrogryposis multiplex conge... ORPHA:254346
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Hepatocellular adenoma, Elevated hepatic tran... ORPHA:264580
Idiopathic/Heritable Pulmonary Arterial Hypertension
Dyspnea, Pulmonary arterial hypertension, Hepatomegaly ORPHA:422
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Left ventricular hypertrophy, Respiratory insufficiency, Elevated hepatic transamin... ORPHA:254892
Transaldolase Deficiency
Decreased liver function, Asthma, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, ... OMIM:606003
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Lethargy OMIM:237300
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Isolated Complex I Deficiency
Respiratory insufficiency, Hepatomegaly, Lethargy ORPHA:2609
Lipodystrophy, Congenital Generalized, Type 4
Hirsutism, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated hepatic transaminase, Lipody... OMIM:613327
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Hepatic steatosis ORPHA:52430
Craniofaciofrontodigital Syndrome
Respiratory distress, Hypertrichosis, Low anterior hairline, Congenital, generalized hypertrichos... ORPHA:363705
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly OMIM:603902
Thoraco-Abdominal Enteric Duplication
Respiratory insufficiency, Camptodactyly of finger, Hepatomegaly ORPHA:1759
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Hypoxemia, Crackles, Enlarged kidney, Wheezing, Decr... ORPHA:79128
Q Fever
Respiratory distress, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystitis, Cough, Eleva... ORPHA:781
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Fructose Intolerance, Hereditary
Hepatomegaly, Jaundice, Coma, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Lethargy OMIM:229600
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor OMIM:211530
Congenital Enterovirus Infection
Respiratory distress, Hepatic failure, Cholestasis, Hepatitis, Pleural effusion, Fetal ascites ORPHA:292
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Nasolacrimal Duct Cyst
Episodic respiratory distress, Cellulitis, Intercostal retractions, Abnormal breath sound, Paroxy... ORPHA:141083
Mucopolysaccharidosis, Type Iiia
Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Coarse hair, Synophrys, Umbilical hernia OMIM:252900
Farber Disease
Respiratory distress, Flexion contracture, Hepatic failure, Hepatosplenomegaly, Respiratory insuf... ORPHA:333
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Elevate... OMIM:616860
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Hypogonadism OMIM:619273
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure ORPHA:228305
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Thin eyebrow, Clitoral hypertrophy, Dyspnea, Respiratory fa... ORPHA:2707
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... OMIM:601847
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Dyspnea, Ascites, Cardiomegaly OMIM:115197
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Prominent scrotal raphe, Respiratory distress, Bifid scrotum, Abnormality of the pancreas, Umbili... ORPHA:1555
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Inguinal hernia, Flexion contracture ORPHA:544503
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreatitis, E... OMIM:619487
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation, Lethargy, Loss of consciousness ORPHA:173
Cystic Echinococcosis
Asthma, Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Pe... ORPHA:400
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic fibrosis, Elevated h... OMIM:557000
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice OMIM:243300
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple, Micropenis, Cryptorchidism, Pulmonary arterial hypert... ORPHA:2519
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Pulmonary arterial hypertension, Inguinal hernia OMIM:619272
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Asthma, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Allergic rhinitis, Jaundice OMIM:612714
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure OMIM:231530
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis, Brittle hair, Inguinal hernia OMIM:236200
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... OMIM:300972
Hurler-Scheie Syndrome
Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Contracture of the distal interphalangeal... OMIM:607015
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Splenomegaly OMIM:612852
Tetanus
Respiratory distress, Coma, Tachypnea ORPHA:3299
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Sparse hair, Alopecia, Sparse eyelashes, Enamel hypoplasia, Cholangitis, Thick hair... OMIM:607626
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Coma, Confusion, Lethargy OMIM:607483
Encephalitis Lethargica
Hyperventilation, Coma, Lethargy ORPHA:83600
Methylmalonic Acidemia With Homocystinuria Type Cblf
Reduced number of intrahepatic bile ducts, Lethargy ORPHA:79284
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Cellulitis, Peritonitis, Confusion, Tachypnea, Hepatitis, Fascii... ORPHA:36234
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotropic hypogonadism, Macrovesicular hepatic ... ORPHA:298
Odontochondrodysplasia
Respiratory distress, Dentinogenesis imperfecta ORPHA:166272
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... ORPHA:53035
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Confusion, Prolonged neonatal jaundice OMIM:274150
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Hepatic steatosis, Recurrent pneumonia, Flexion contracture OMIM:616271
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Bradykinesia, Cirrhosis, Elevated hepatic transaminase OMIM:613280
Prolidase Deficiency
Asthma, Hepatomegaly, Facial hirsutism, Splenomegaly, Elevated circulating aspartate aminotransfe... OMIM:170100
Mucopolysaccharidosis, Type Ii
Asthma, Hypertrichosis, Airway obstruction, Hepatomegaly, Sleep apnea, Flexion contracture, Splen... OMIM:309900
Nocardiosis
Respiratory distress, Emphysema, Cellulitis, Nonproductive cough, Peritonitis, Pneumothorax, Prod... ORPHA:31204
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Low posterior hairline, Congenital diaphragmatic hernia, Sparse eyebrow OMIM:606164
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Coma, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic f... OMIM:277900
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Alopecia, Elevated hepatic transaminase, Hepatic steatosis ORPHA:98907
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Right ventricular hypertrophy, Respiratory insufficiency, Neon... ORPHA:98915
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Hypertrichosis, Flexion contracture OMIM:271225
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Delirium, Pulmonary embolism, Pulmonary arterial hypertension, Jaundice, Le... ORPHA:79282
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Neonatal respir... ORPHA:95430
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Flexion contracture, Splenomegaly, Generalized lipodystrophy, Panniculitis OMIM:619183
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Coma, Hepatic failure, Hepatic calcification, Neonatal respiratory distress, Hepati... ORPHA:228308
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation, Sparse l... ORPHA:314655
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhos... ORPHA:231222
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Respiratory distress, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body h... OMIM:305100
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Respiratory distress, Asthma, Thyroid dysgenesis, Hypospadias, Elevated circu... ORPHA:209905
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... ORPHA:541423
Aromatic L-Amino Acid Decarboxylase Deficiency
Cardiorespiratory arrest, Apnea, Lethargy OMIM:608643
Bronchial Neuroendocrine Tumor
Asthma, Elevated circulating growth hormone concentration, Hepatomegaly, Hepatic failure, Nonprod... ORPHA:97287
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Hypospadias, Hernia, Neonatal respiratory distress, Cryptor... OMIM:217980
Lujo Hemorrhagic Fever
Respiratory distress, Coma, Nonproductive cough, Fulminant hepatitis, Confusion, Crackles, Elevat... ORPHA:319213
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Pituitary adenoma, Hepatitis, Lethargy ORPHA:199299
Cryptococcosis
Respiratory distress, Prostatitis, Cirrhosis, Peritonitis, Cough, Pneumonia, Pleural effusion, Dy... ORPHA:1546
Joubert Syndrome With Hepatic Defect
Apnea, Neoplasm of the liver, Hepatomegaly, Inguinal hernia, Splenomegaly, Intrahepatic biliary a... ORPHA:1454
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets ORPHA:71
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Lethargy, Alopecia OMIM:210210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Flexion contracture, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic ... OMIM:616263
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate... OMIM:311250
Shwachman-Diamond Syndrome 1
Respiratory distress, Exocrine pancreatic insufficiency, Hepatomegaly, Elevated hepatic transamin... OMIM:260400
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Hepatic amyloidosis, Hepatic failure, Decreased response to growth ho... ORPHA:470
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sleep apnea, Hepatomegaly... ORPHA:365
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Elevated hepatic transaminase, Hepatic steatosis, Respiratory failure ORPHA:445038
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hypertrichosis, Airway obstruction, Flexion contracture, Hepatosplenomegaly... ORPHA:505248
Sepsis In Premature Infants
Decreased liver function, Hepatomegaly, Splenomegaly, Abnormal respiratory system physiology, Abn... ORPHA:90051
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Meier-Gorlin Syndrome 1
Respiratory distress, Joint contracture of the hand, Flexion contracture, Micropenis, Camptodacty... OMIM:224690
Aromatase Deficiency
Generalized hirsutism, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidis... ORPHA:91
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hirsutism, Pituitary adenoma, Alopecia, Primary hyperparathyroidism, Macronodular adrenal hyperpl... ORPHA:189427
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Hypopigmentation of hair, Premature graying of hair, Jaundice ORPHA:79477
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Primary Hepatic Neuroendocrine Carcinoma