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Gene: Lactb2 MGI:2442551

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Lethargy, Respiratory insufficiency, Hepatomegaly OMIM:618224
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy, Hepatic steatosis ORPHA:26792
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Flexion contracture, Cough, Abnormal pattern of... ORPHA:77260
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, Respiratory insufficiency due ... OMIM:613561
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipo... OMIM:608709
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Respiratory arrest, Macrovesicular hep... OMIM:600649
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Respiratory insufficiency, Hepatomegaly ORPHA:28
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Lethargy, Fatal liver failure in infancy ORPHA:254857
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis, Lethargy OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Increased... ORPHA:254864
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Synophrys, Pulmonary arterial hyperten... OMIM:619064
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Generalized lipod... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Lipoatrophy, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:79084
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Cough, Pleur... ORPHA:50251
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Lethargy, Decreased liver function, Hepatomegaly OMIM:246900
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... ORPHA:79230
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy, Pancreatitis, Hepatomegaly ORPHA:289916
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Distal arthrogryposis, Decreased liver... ORPHA:42
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Lethargy, Pancreatitis ORPHA:79312
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Respiratory arrest, Tachypnea, Hepatocellular necrosis, Periportal fi... OMIM:201475
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Apnea, Dyspnea, Lethargy, Hyperventilation OMIM:229700
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis, Cough ORPHA:163703
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Apnea, Respiratory insufficiency, Hepatomegaly OMIM:618226
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Lower-limb joint contracture OMIM:613710
Crigler-Najjar Syndrome
Lethargy, Jaundice, Abnormality of the liver ORPHA:205
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619048
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content OMIM:610717
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Tachypnea, Respiratory insufficiency, Respiratory failure, Le... OMIM:614299
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased connective tissue ORPHA:238329
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary... OMIM:613490
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... ORPHA:2414
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Generalized hirsutism ORPHA:79087
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, General... ORPHA:363400
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Respiratory insufficiency ORPHA:139406
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Lipodystrophy, Splenomeg... ORPHA:2348
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Lethargy, Hepatic steatosis, Hepatomegaly OMIM:201450
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Pancreatitis, Loss of ... ORPHA:435651
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut... ORPHA:435660
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Lethargy, Apnea, Respiratory insufficiency OMIM:618228
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Apathy, Respiratory distress, Depression ORPHA:240085
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Lethargy ORPHA:71277
Typhoid
Hepatomegaly, Epistaxis, Splenomegaly, Cough, Lethargy ORPHA:99745
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Evans Syndrome
Dyspnea, Lethargy, Jaundice, Epistaxis ORPHA:1959
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Pulmonary arterial hype... OMIM:215600
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Jaundice, Depression, Ascites, Letha... ORPHA:79239
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Pancreatitis, Respiratory insufficiency, Hepatomegaly ORPHA:27
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Cholestasis, Chronic cough, Pu... OMIM:620233
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism, External genital hypoplasia OMIM:615993
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Lethargy, Inspiratory stridor, Irregular respiration OMIM:604377
Combined Oxidative Phosphorylation Deficiency 2
Elevated hepatic transaminase, Lethargy OMIM:610498
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Hepatomegaly ORPHA:276575
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipoatrophy, Splenomegaly, Pancreatit... ORPHA:79083
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Lethargy, Hepatic failure, Hepatomegaly ORPHA:2394
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hepatomegaly ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Isolated Atp Synthase Deficiency
Respiratory distress, Lethargy, Hypogonadism, Hepatomegaly ORPHA:254913
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Thin skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Glycine Encephalopathy 1
Lethargy OMIM:605899
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Polycystic ovaries, Increased intraabdominal fat, Hepatic steatosis ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Hepatomegaly ORPHA:927
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Apnea OMIM:618225
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Lipody... OMIM:615381
Pontocerebellar Hypoplasia, Type 6
Lethargy, Apnea, Elbow contracture OMIM:611523
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circu... OMIM:608836
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Morbid Obesity And Spermatogenic Failure
Azoospermia, Hepatic steatosis, Oligozoospermia OMIM:615703
Obesity And Hypopigmentation
Red hair, Hepatic steatosis OMIM:620195
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Flexion c... ORPHA:367
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Lethargy, Hepatic failure, Hepatomegaly ORPHA:156
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Apneic episodes in infancy OMIM:610006
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hepatic steatosis OMIM:613877
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Lethargy, Apnea OMIM:210200
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Respiratory ins... OMIM:617397
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hepatomegaly ORPHA:276580
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Lipodystrophy, Adi... ORPHA:528
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hypergonadotropic hypogonadism, Hepatic steatosis OMIM:617872
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cardiorespiratory arrest, Lethargy, Hepatic steatosis OMIM:212138
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Propionic Acidemia
Hepatomegaly, Apnea, Tachypnea, Lethargy, Pancreatitis OMIM:606054
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Lethargy, Prolonged neonatal jaundice ORPHA:95717
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology ORPHA:324581
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Depression, Respiratory paralysis OMIM:121300
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Severe Canavan Disease
Lethargy ORPHA:314911
Multifocal Atrial Tachycardia
Dyspnea, Cryptorchidism, Tachypnea, Lethargy ORPHA:3282
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Dengue Fever
Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Lethargy, Ascites ORPHA:99828
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Pancreatic islet-cell hyperplasia ORPHA:276608
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Lethargy, Pancreatitis, Hepatomegaly OMIM:251000
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Hepatomegaly ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Respiratory failure, Decreased liver function, Lethargy, Hepatic steatosis OMIM:614922
Citrullinemia Type I
Lethargy, Hepatic failure, Tachypnea ORPHA:247525
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Pyruvate Dehydrogenase Deficiency
Dyspnea, Multiple lipomas, Tachypnea, Lethargy ORPHA:765
Biotinidase Deficiency
Hepatomegaly, Alopecia, Apnea, Splenomegaly, Tachypnea, Lethargy OMIM:253260
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Abnormal reproductive system morphology, Respiratory failure, Decreased... ORPHA:70472
Holocarboxylase Synthetase Deficiency
Respiratory distress, Lethargy, Alopecia, Tachypnea ORPHA:79242
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Congenital contracture, Neonatal respiratory distress, Respiratory... OMIM:615042
Thyroid Dyshormonogenesis 1
Umbilical hernia, Lethargy, Goiter OMIM:274400
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites ORPHA:890
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Scrub Typhus
Splenomegaly, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy ORPHA:83317
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Lethargy, Jaundice, Acute hepatic failure OMIM:616483
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... ORPHA:210136
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Respiratory insufficiency, Abnormality of the pancreas ORPHA:2924
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Lethargy, Alopecia of scalp, Decreased testicular size OMIM:201100
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Cryptorchidism, Tachypnea, Pulmonary arterial hypertension, Lethargy OMIM:614857
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Restrictive ventilatory defect, Cough, Hypopit... OMIM:619013
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Microvesicular hepatic steatosis, Jaundice, ... OMIM:617156
Succinic Acidemia
Respiratory distress OMIM:600335
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Increased hepat... OMIM:261680
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis, Penile freckling ORPHA:210548
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Respiratory insufficiency, Le... ORPHA:159
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Diffuse hepatic steatosis, Cholestasis, Respiratory insufficiency, Respirator... ORPHA:746
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ankle flexion contracture, Spl... OMIM:608799
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Tachypnea, Recurrent pne... ORPHA:1329
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... ORPHA:1143
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Hepatic steatosis OMIM:615238
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, Episodic tachypnea, Pneumonia,... ORPHA:26793
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Lethargy, Increas... ORPHA:263455
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Res... OMIM:609015
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Lethargy... ORPHA:247585
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism, Hepatic fibrosis, Cirrhosis OMIM:613313
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Prolonged neonatal jaundice, Lethargy, Goiter ORPHA:95716
Myotonic Dystrophy 1
Respiratory distress, Frontal balding, Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Intermittent hyperventilation,... ORPHA:348
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:615486
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, External genital hypoplasia OMIM:615996
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Restrictive ventilatory defect, Joint c... OMIM:615704
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy, Hepatomegaly OMIM:251110
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy ORPHA:300536
Hemoglobin H Disease
Splenomegaly, Hepatomegaly OMIM:613978
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... ORPHA:178320
Riboflavin Deficiency
Lethargy OMIM:615026
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... ORPHA:369
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Jaundice, Tachypnea, Lipi... ORPHA:20
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly OMIM:619751
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li... ORPHA:1414
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hepatosplenomegaly OMIM:611590
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly OMIM:606445
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, External genital hypoplasia, L... ORPHA:329178
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Respiratory distress, Elevated circulating aspartate aminotr... OMIM:256810
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Central Diabetes Insipidus
Lethargy, Depression ORPHA:178029
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati... OMIM:207900
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Depression, Prolonged neon... ORPHA:99832
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Ebola Hemorrhagic Fever
Acute pancreatitis, Dyspnea, Hepatitis, Cough, Lethargy ORPHA:319218
Myopathy And Diabetes Mellitus
Respiratory distress, Achilles tendon contracture ORPHA:2596
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress ORPHA:240103
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Alopecia, Apnea, External genital hypoplasia... ORPHA:79330
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Ankle flexion contracture OMIM:618120
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy OMIM:615980
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Scarring, Hepatocellular carcinoma, Portal inflam... ORPHA:101330
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Malaria
Respiratory distress ORPHA:673
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegal... OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Respiratory failure, Tachypnea OMIM:615838
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchi... OMIM:300219
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough, Nodular goiter, Goiter ORPHA:142
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Lethargy ORPHA:2089
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Generalized lipodystrophy, Polycystic ovaries, Panniculitis, Ci... ORPHA:79086
Hypoglossia With Situs Inversus
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Developmental And Epileptic Encephalopathy 41
Lethargy, Flexion contracture OMIM:617105
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Splenomegaly, Synophrys, Flexion contracture, Recurrent pneum... OMIM:617303
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma... ORPHA:79303
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content OMIM:261750
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small scrotum, Hypospadias, Cryptorchidism, Recurrent pneumonia, Lethargy, ... OMIM:607143
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Left ventricular hypertrophy, Dyspnea, Respiratory distress, Cough ORPHA:86812
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... OMIM:610978
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Restrictive ventilatory defect ORPHA:369840
Insulinoma
Lethargy, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Pituitary prola... ORPHA:97279
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventila... OMIM:612387
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Lethargy, Hepatomegaly OMIM:251100
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:608594
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia, Knee flexion contractur... ORPHA:79322
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Lethargy OMIM:620306
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Rhinitis, Hernia, Generalized hirsutism ORPHA:93476
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Respiratory distress OMIM:616733
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Ogden Syndrome
Inguinal hernia, Cryptorchidism, Fine hair, Lethargy, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Micro... OMIM:610198
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Goiter ORPHA:97285
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... ORPHA:398079
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Necrotizing Enterocolitis
Lethargy, Peritonitis, Ascites, Apnea ORPHA:391673
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Umbilical hernia, Thyroid hypoplasia, Lethargy, Goiter ORPHA:226316
Methylcobalamin Deficiency Type Cble
Lethargy, Abnormality of the liver ORPHA:2169
Holocarboxylase Synthetase Deficiency
Lethargy, Alopecia, Tachypnea, Hyperventilation OMIM:253270
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... OMIM:614866
Susac Syndrome
Lethargy, Apathy ORPHA:838
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Flexion contracture, Facial hirsutism, Thick eyebrow OMIM:619383
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Prolonged neonatal jaundice, Goiter ORPHA:226313
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice OMIM:237800
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Apathy... OMIM:608013
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Diaphanospondylodysostosis
Respiratory distress, Inguinal hernia, Respiratory insufficiency, Abnormal liver lobulation, Webb... OMIM:608022
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Lethargy, Hepatic steatosis ORPHA:71212
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Brittle hair, Depression, Hepatic steatosis, Pancreatitis OMIM:236200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Maple Syrup Urine Disease
Lethargy, Pancreatitis OMIM:248600
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Leth... ORPHA:415
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Hypoxemia ORPHA:2140
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia, Cellulitis ORPHA:238459
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Hepat... ORPHA:264580
Citrullinemia, Classic
Lethargy, Cirrhosis, Hepatomegaly OMIM:215700
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Bipolar affective disorder, Respiratory insufficiency, Depression,... ORPHA:254892
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619232
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha... OMIM:614602
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor... ORPHA:398069
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropi... OMIM:203800
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Depression, Lethargy, Prolonged neonatal jaundice, Macroorchidism, Umbi... ORPHA:90674
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... OMIM:616433
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypospadias, Apnea, Splenomegaly, Respiratory insufficiency, Respiratory failure, I... OMIM:252010
Isovaleric Acidemia
Lethargy OMIM:243500
Moebius Syndrome
Respiratory distress, Hypogonadotropic hypogonadism, Camptodactyly, Arthrogryposis multiplex cong... OMIM:157900
Transcobalamin Ii Deficiency
Lethargy, Hepatomegaly OMIM:275350
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Flexion contracture, Re... OMIM:613327
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Biotinidase Deficiency
Respiratory distress, Alopecia, Apnea, Lethargy, Hyperventilation ORPHA:79241
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Alopecia, Multiple joint contractures, H... ORPHA:2959
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Dorsocervical fat pad, Pituitary adenoma, Primary hyperparathyroidism, Depression, Macr... ORPHA:189427
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Synophrys, Arthrogryposis multiplex congenita, H... ORPHA:254346
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... ORPHA:99931
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Umbilical hernia, Thyroid hypoplasia, Lethargy, Goiter ORPHA:90673
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... OMIM:616860
Isolated Complex I Deficiency
Lethargy, Respiratory insufficiency, Hepatomegaly ORPHA:2609
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Respiratory insufficiency, ... ORPHA:848
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Weakness of muscles of respiration ORPHA:52430
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Jaundice, R... OMIM:615512
Meningococcal Meningitis
Lethargy, Neonatal respiratory distress ORPHA:33475
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis ORPHA:228305
Lymphoid Interstitial Pneumonia
Hepatomegaly, Crackles, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restrictive ventilatory def... ORPHA:79128
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Respiratory failure, Omphalocele, Respiratory distress OMIM:617895
Idiopathic/Heritable Pulmonary Arterial Hypertension
Dyspnea, Hepatomegaly, Pulmonary arterial hypertension ORPHA:422
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... OMIM:614300
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Respiratory insufficiency ORPHA:1759
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Asthma, Synophrys, Hepatosplenomegaly, Hepati... OMIM:606003
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Hepatomegaly OMIM:277380
Hereditary Fructose Intolerance
Lethargy, Jaundice, Chronic hepatic failure, Hepatomegaly ORPHA:469
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Splenomegaly, Jaundice, Asthma, Exocrine pancreatic insufficiency OMIM:612714
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Mac... ORPHA:298
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice, Tachypnea OMIM:615751
Craniofaciofrontodigital Syndrome
Respiratory distress, Thick hair, Cardiomegaly, Dyspnea, Low anterior hairline, Sacral hypertrich... ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Cardiomegaly, Dyspnea, Ascites OMIM:115197
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism OMIM:252900
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Tachypnea, Polycystic ovaries, Cough, Lethargy ORPHA:137675
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... OMIM:300972
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Splenomegaly, Hepat... ORPHA:781
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Hepatitis, Cholestasis, Pleural effusion, Hepatic failure ORPHA:292
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Inguinal hernia, Flexion contracture ORPHA:544503
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow, Clitoral hypert... ORPHA:2707
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Micronodular cirrhosis, Increased intramyo... ORPHA:98907
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Inguinal hernia, Hypospadias OMIM:619272
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Renal Hypoplasia, Bilateral
Cryptorchidism, Neonatal respiratory distress, Lethargy ORPHA:97362
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:605479
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Decreased liver function, Diffuse... ORPHA:436271
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Apnea, Cardiorespiratory arrest OMIM:608643
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Prominent scrotal raphe, Cryptorchidism, Abnormality of the ... ORPHA:1555
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Macronodular cirrhosis, Letharg... OMIM:557000
Odontochondrodysplasia
Respiratory distress, Dentinogenesis imperfecta ORPHA:166272
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Reduced number of intrahepatic bile ducts ORPHA:79284
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Hepatomegaly, Limb joint contracture, Shoulder flexion con... OMIM:620369
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... ORPHA:231222
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Respiratory distress OMIM:612852
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Depression, Recurrent pancr... ORPHA:444490
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Flexion contracture, Hepatic steatosis, Recurrent pneumonia OMIM:616271
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Flexion contracture, Hypertrichosis OMIM:271225
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Hypogonadism, Elevated hepatic iron concentration OMIM:615234
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Lethargy, Hepatic steatosis OMIM:229600
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Sparse eyebrow, Congenital diaphragmatic hernia, Low posterior hairline OMIM:606164
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Cholera
Lethargy, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple, Cryptorchidism, Pulmonary arterial hypertension, Micr... ORPHA:2519
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Hepatitis, Lethargy ORPHA:199299
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l... ORPHA:314655
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Aplasia/Hypo... OMIM:305100
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... OMIM:235555
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Decreased liver function, Cirrhosis OMIM:613280
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Respiratory failure, Pneumothorax, Hepatic steatosis ORPHA:445038
Oromandibular Dystonia
Respiratory distress, Depression ORPHA:93958
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate OMIM:607361
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Cardiomegaly, Productiv... ORPHA:95430
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypospadias, Apnea, Flexion co... ORPHA:17
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Peritonitis, Cirrhosis, Cough, Pleural effusion, Prosta... ORPHA:1546
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Nonproductive cough, ... ORPHA:97287
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Small scrotum, Portal hypertension, Tachypnea, Ch... OMIM:613658
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Sepsis In Premature Infants
Hepatomegaly, Abnormal mucociliary clearance, Splenomegaly, Jaundice, Dyspnea, Nasal flaring, Abn... ORPHA:90051
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer... OMIM:618329
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotran... OMIM:277900
Encephalitis Lethargica
Lethargy, Hyperventilation ORPHA:83600
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Abnormal subcutaneou... OMIM:212065
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension, Lethargy ORPHA:79282
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Glycogen accumulation in muscle fiber lysosomes, C... ORPHA:365
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Hernia, Tracheo... OMIM:217980
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Respiratory distress,... OMIM:260400
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolong... OMIM:619377
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis ORPHA:71
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Thick hair, Flexion contracture, Hypertrichosis, Hepatosplenomegaly, Strido... ORPHA:505248
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Decreased response to growth hormone stimulation tes... ORPHA:470
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Neonatal respiratory distress, Respiratory distress, Hypo... ORPHA:209905
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Pneumonia, Peritonitis, Tachypnea, Hepatitis, Cellulitis ORPHA:36234
Kniest Dysplasia
Respiratory distress, Hip contracture, Inguinal hernia, Tracheomalacia, Umbilical hernia OMIM:156550
Odontochondrodysplasia 1
Respiratory distress, Dentinogenesis imperfecta OMIM:184260
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Shawl scrotum, ... OMIM:616263
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Respiratory distress, Generalized hypertrichosis ORPHA:50810
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Apnea ORPHA:395
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Meier-Gorlin Syndrome 1
Respiratory distress, Cryptorchidism, Hypoplastic labia minora, Flexion contracture, Emphysema, H... OMIM:224690
Rodrigues Blindness
Sparse hair, Nasal flaring, Fine hair OMIM:268320
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrea... ORPHA:226307
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Hyperparathyroidism, Inguinal hernia, Ovarian cyst, Splenic cyst, Umbilical... OMIM:618188
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of ... ORPHA:93111
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspar... OMIM:311250
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Alopecia, Psoriasiform dermatitis, Pneumonia... ORPHA:37042
Coccidioidomycosis
Respiratory distress, Abnormal sperm morphology, Pneumonia, Abnormality of the spleen, Peritoniti... ORPHA:228123
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Aplasia/Hypoplasia of the eyebrow ORPHA:990
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Hepatic calcification, Hepatic failure... ORPHA:228308
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Lethargy OMIM:618321
Medulloblastoma
Elevated hepatic transaminase, Lethargy ORPHA:616
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Increased pulmonary vascular resistance, Wheezing, Hypoxemia,... ORPHA:97214
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Uterine leiomyoma, Respiratory failure, Pulmonary arterial h... OMIM:616482
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Alopecia OMIM:210210
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... ORPHA:31204
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Glycine Encephalopathy
Lethargy, Respiratory acidosis, Breathing dysregulation ORPHA:407
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Cough, Pancreat... OMIM:619991
Arterial Tortuosity Syndrome
Respiratory distress, Inguinal hernia, Femoral hernia, Hiatus hernia, Dyspnea, Cardiorespiratory ... ORPHA:3342
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... ORPHA:210122
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, ... ORPHA:2554
Bloom Syndrome
Cryptorchidism, Bronchiectasis, Azoospermia, Hepatic steatosis, Chronic lung disease, Hypertrichosis OMIM:210900
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Microvesicul... OMIM:203700
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Depres... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Depres... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Depres... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Depres... ORPHA:93924
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Respiratory distress, Cholangitis, Pulmonary embolism, Splenomegal... ORPHA:3260
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, P... ORPHA:60025
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert... ORPHA:171
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Monosomy 13Q34
Hepatic steatosis, Epistaxis, Horizontal eyebrow ORPHA:96168
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Flexion contracture OMIM:201470
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficienc... OMIM:618278
Tetrasomy 5P
Respiratory distress, Pericallosal lipoma, Pulmonary arterial hypertension ORPHA:3309
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Ectopic thyroid, Umbilical hernia, Thyroid hypoplasia, Lethargy, Goiter OMIM:218700
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Elevated hepatic transaminase, Restrictive ventilato... ORPHA:537
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... ORPHA:652
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Sparse eyelashes, Medial flaring of the eyebrow, Low posterior hairline OMIM:612863
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth... OMIM:219700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Chole... OMIM:124000
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Crackles, Nonproductive cough, Fulminant hep... ORPHA:319213
Pachyonychia Congenita
Respiratory distress, Alopecia, Nail dystrophy ORPHA:2309
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... ORPHA:98908
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Inguinal hernia, Biliary hyperplasia, Cryptorchidism, Contrac... ORPHA:83617
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Lipodystrophy, Splenomegaly, Flexion cont... OMIM:617591
Exercise-Induced Malignant Hyperthermia
Crackles, Tachypnea, Decreased liver function, Hypocapnia, Lethargy, Hepatic failure ORPHA:466650
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis ORPHA:412
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Epistaxis, Hepatocellular adenoma, Polycystic ovaries, Pulmonary venous hypertensio... ORPHA:79259
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... OMIM:617253
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Respiratory insuffici... ORPHA:536467
Glycerol Kinase Deficiency
Cryptorchidism, Lethargy, Chronic pancreatitis OMIM:307030
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Respiratory failure, Hepatic fibrosis,... ORPHA:14
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:185000
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Ascites, Chylothorax OMIM:617300
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Lipoatrophy, Abnormal hair morphology, Abnormal hair whorl, Ova... ORPHA:79474
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Dyspnea, Episodic respiratory distress, Hepatic failure, Hyperventilation ORPHA:255210
Tuberous Sclerosis Complex
Respiratory distress, Pituitary adenoma, Parathyroid hyperplasia, Depression, Respiratory failure... ORPHA:805
Kasabach-Merritt Syndrome
Respiratory distress, Hepatic hemangioma, Hypopnea, Hypertrichosis ORPHA:2330
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture OMIM:618733
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Unilateral breast hypoplasia, Hypertrichosis OMIM:300968
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Esophageal Atresia
Omphalocele, Respiratory distress, Abnormal external genitalia, Episodic respiratory distress, Ch... ORPHA:1199
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Microvesicular hepatic steatosis, Flexion contracture, Elbow flexi... OMIM:300868
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Flexion c... OMIM:619503
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Hypospadias, Hypoplastic labia majora, Prominent scrotal raphe OMIM:123790
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:619573
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax, Joint contracture, Joint contracture of t... OMIM:620278
Familial Hypoaldosteronism
Lethargy ORPHA:427
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis OMIM:194380
Osteogenesis Imperfecta, Type X
Respiratory distress, Inguinal hernia, Recurrent pneumonia, Dentinogenesis imperfecta, Chronic lu... OMIM:613848
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97278
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Cholelithiasis OMIM:603903
Adnp Syndrome
Respiratory distress, Sparse scalp hair, Inguinal hernia, Cryptorchidism, Aspiration, Umbilical h... ORPHA:404448
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Tachypnea, Hypoxe... ORPHA:555874
Listeriosis
Respiratory distress, Liver abscess, Pneumonia, Jaundice, Peritonitis, Hepatic granulomatosis, Re... ORPHA:533
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Trichinellosis
Lethargy, Apathy ORPHA:863
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... ORPHA:275761
Rubinstein-Taybi Syndrome 1
Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Low ant... OMIM:180849
Japanese Encephalitis
Respiratory distress, Elbow flexion contracture, Respiratory paralysis, Abnormal pattern of respi... ORPHA:79139
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Elevated hepatic transaminase, Pancreatic fibrosis, Decreased r... ORPHA:699
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97282
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:615356
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Respiratory distress, Respiratory failu... ORPHA:95455
Mgat2-Cdg
Respiratory distress, Long eyelashes, Hypoplastic nipples, Hirsutism ORPHA:79329
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Mania, Hyperventilation ORPHA:90068
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Hypospadias, Abnormal dental enamel morphology, ... ORPHA:2556
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress OMIM:151210
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Exocrine pancreatic insufficiency, Biliary... ORPHA:2255
Ogden Syndrome
Inguinal hernia, Apnea, Cardiomegaly, Sparse eyebrow, Cryptorchidism, Jaundice, Microvesicular he... OMIM:300855
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Orchitis, Nonproductive cough, Jaundice, Lethargy, Pancreatitis ORPHA:99826
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Abdomin... OMIM:306955
Porphyria, Congenital Erythropoietic
Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarri... OMIM:263700
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Anterior pituitary... ORPHA:177907
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Respiratory distress OMIM:615273
Amoebiasis Due To Free-Living Amoebae
Lethargy, Sinusitis, Pneumonia ORPHA:68
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Diamond-Blackfan Anemia
Lethargy, Hypospadias, Low anterior hairline, Webbed neck ORPHA:124
Posterior Urethral Valve
Lethargy ORPHA:93110
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Hypoplasia of the ovary, Micropenis, Hepatic steatosis, Decreased ... OMIM:619321
Diamond-Blackfan Anemia 10
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Bipolar affective disorder, Hyp... ORPHA:77293
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97283
Digeorge Syndrome
Inguinal hernia, Bipolar affective disorder, Parathyroid agenesis, Femoral hernia, Splenomegaly, ... OMIM:188400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s... ORPHA:247598
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Hydrometrocolpos, Vaginal atresia OMIM:617088
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Nodular regenerative hyperpl... ORPHA:404454
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Elevated circulating growth hormone ... ORPHA:97280
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryp... OMIM:270400
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory f... ORPHA:340
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Alopecia, Increased circulating gonadotropin level, Biliary cirrho... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Alopecia, Increased circulating gonadotropin level, Biliary cirrho... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Alopecia, Increased circulating gonadotropin level, Biliary cirrho... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Alopecia, Increased circulating gonadotropin level, Biliary cirrho... ORPHA:99226
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sparse eyebrow, Flexion contracture, Generalized lip... OMIM:619127
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Ascites, Enlarged kidney OMIM:261740
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Schinzel-Giedion Syndrome
Respiratory distress, Inguinal hernia, Streak ovary, Hypospadias, Generalized hypertrichosis, Rec... ORPHA:798
Colchicine Poisoning
Respiratory distress, Alopecia, Cardiorespiratory arrest ORPHA:31824
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Thin eyebrow ORPHA:2131
Achondroplasia
Respiratory distress, Upper airway obstruction OMIM:100800
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pneumonia, Splenomegaly, Hepatitis, Hepatic steatosis OMIM:615846
Ramos-Arroyo Syndrome
Respiratory distress, Sparse scalp hair, High anterior hairline ORPHA:1051
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Paroxysmal Nocturnal Hemoglobinuria
Dyspnea, Lethargy, Jaundice, Pulmonary embolism ORPHA:447
Osteoglophonic Dysplasia
Respiratory distress, Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Chordee OMIM:166250
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Short nail, Contracture ... OMIM:114290
Leptospirosis
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Cough, Elevated serum transaminases duri... ORPHA:509
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorch... ORPHA:1606
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Highly arched eyebrow, Bilateral cryptorchid... OMIM:616268
Hydranencephaly
Lethargy, Atrophic pituitary gland ORPHA:2177
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Elevated hepatic transaminase, Broad eyebrow, Hypospadias, Abnormal abdomen morpho... OMIM:619475
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Hypospadias, Hypogonadotropic hypogonadis... ORPHA:3455
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Alopecia, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, N... ORPHA:79404
Scimitar Syndrome
Respiratory distress, Pneumothorax, Hernia, Cough, Pulmonary arterial hypertension ORPHA:185
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea OMIM:618426
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Cryptorchidism, Aplasia of the left hemidiaphragm, W... OMIM:620025
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... ORPHA:3206
Congenital Tracheal Stenosis
Respiratory distress, Fetal ascites, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... ORPHA:64
Plague
Respiratory distress, Hepatomegaly, Splenomegaly, Depression, Acute infectious pneumonia ORPHA:707
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypospadias, Highly arched eyebrow, Microvesicular hepatic steatosis, Tachypnea,... OMIM:220111
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Sparse eyelashes, Sparse ... OMIM:614748
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Pineoblastoma
Lethargy, Pinealoma ORPHA:251909
Gitelman Syndrome
Parathyroid adenoma, Neoplasm of the pancreas, Respiratory distress, Chondrocalcinosis ORPHA:358
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Inguinal hernia, Highly arched eyebrow, Long e... ORPHA:508488
Cleidocranial Dysplasia 1
Respiratory distress, Enamel hypoplasia, Neonatal respiratory distress OMIM:119600
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:99125
Aortic Arch Interruption
Left ventricular hypertrophy, Tachypnea, Respiratory distress, Exertional dyspnea ORPHA:2299
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Synophrys ORPHA:466943
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino... ORPHA:3404
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Curly hair, Cyst of the ductus choledochus, Hypoplastic nipples, Hypertrich... ORPHA:480880
Isolated Arrhinia
Respiratory distress ORPHA:1134
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Low anterior hairline, Aspiration pneumonia, Ambiguous... ORPHA:79500
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Multiple joint contractures, Hypogonadotropi... ORPHA:79318
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cardiomegaly, Hepatic calcification, Pulmonary arterial hypertension, Ascit... ORPHA:51608
Homozygous Familial Hypercholesterolemia
Dyspnea, Hepatic steatosis ORPHA:391665
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Recurrent pneumonia ORPHA:99646

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lactb2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lactb2.

No publications found that use IMPC mice or data for Lactb2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lactb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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