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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
Dystonia, Lethargy, Ataxia, Respiratory insufficiency, Hepatomegaly OMIM:618224
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Dyspnea, Elevated hepatic transaminase OMIM:614582
Gaucher Disease Type 2
Dystonia, Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough, Hepa... ORPHA:77260
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Dystonia, Lethargy, Respiratory distress ORPHA:26792
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress OMIM:615595
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Coma, Lethargy, Respiratory insufficiency ORPHA:28
Lujo Hemorrhagic Fever
Dyspnea, Coma, Lethargy, Acute hepatic failure ORPHA:319213
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Elevated hepatic transaminase, Ataxia, Hepatomegaly, Decreased liver function OMIM:246900
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Cirrhosis, Familial
Pulmonary arterial hypertension, Micronodular cirrhosis, Jaundice, Lethargy OMIM:215600
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Lethargy, Neonatal respiratory distress ORPHA:254857
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Rft1-Cdg
Hepatomegaly, Arthrogryposis multiplex congenita, Ataxia ORPHA:244310
Carnitine Deficiency, Systemic Primary
Coma, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Excessive daytime somnolence, D... OMIM:212140
Hemochromatosis, Type 2A
Cirrhosis, Lethargy, Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Lipodystrophy, Hirsutism, Hepatomegaly, Splenomegaly, Reduced subcutaneous adi... OMIM:612526
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase OMIM:618400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Ataxia, Respiratory insufficiency, Hepatomegaly, Respiratory failure OMIM:614299
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiome... OMIM:600649
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, Loss of gluteal subcutaneou... ORPHA:280356
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Hepatomegaly, Alopecia of scalp, Splenomegaly, Decreased testicular size, Hypog... OMIM:201100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Respiratory distress, Hepatomegaly, Pancreatitis ORPHA:289916
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Reduced intraabdominal adipose tissue, Hepatic steatosis, Ataxia, Hepatom... ORPHA:363400
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Exertional dyspnea, Hepatic steatosis, Ataxia, Hep... ORPHA:42
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Respiratory insufficiency, Splenomegaly ORPHA:139406
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy, Elevated hepatic transaminase, Long eyelashes, Synophrys, Hepatomegaly, Cardiomegaly, P... OMIM:619064
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:79084
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Respiratory distress, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Micropenis, Elevated hepatic transaminase OMIM:613861
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Respiratory distress, Ataxia, Confusion, Drowsiness, Hepatomegaly, Loss... ORPHA:927
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Respira... OMIM:619386
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, H... ORPHA:50251
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
N-Acetylglutamate Synthase Deficiency
Confusion, Coma, Lethargy, Respiratory distress OMIM:237310
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Contractures of the joints of the lower limbs, Lethargy OMIM:613710
Systemic Primary Carnitine Deficiency
Confusion, Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Hemochromatosis Type 2
Lethargy, Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypogonadism, Abnormality o... ORPHA:79230
Galactosemia
Cryptorchidism, Dystonia, Lethargy, Cirrhosis, Elevated hepatic transaminase, Gait imbalance, Gai... ORPHA:352
Perching Syndrome
Camptodactyly, Flexion contracture, Respiratory distress OMIM:617055
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Hepatomegaly, Drowsiness, Loss... ORPHA:276556
Fructose-1,6-Bisphosphatase Deficiency
Coma, Apnea, Lethargy, Dyspnea, Hepatomegaly, Hyperventilation OMIM:229700
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Hepatomegaly, Drowsiness, Foca... ORPHA:276575
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Central apnea, Ataxia, Confusion ORPHA:71277
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy ORPHA:79283
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Dyspnea, Elevated hepatic transaminase, Chronic pulmonary obstruction, Hepat... OMIM:613490
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Lethargy, Respiratory failure, Respiratory insufficiency OMIM:605711
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Hepatic failure, Tachypnea, Loss of consciousness ORPHA:247525
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:610717
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Hepatomegaly, Drowsiness, Loss... ORPHA:276580
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy, Ataxia OMIM:618225
Classic Galactosemia
Cryptorchidism, Dystonia, Lethargy, Elevated hepatic transaminase, Gait imbalance, Gait disturban... ORPHA:79239
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Ataxia ORPHA:622
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Coma, Dystonia, Progressive cerebellar ataxia ORPHA:67046
Typhoid
Coma, Lethargy, Cough, Epistaxis, Ataxia, Hepatomegaly, Splenomegaly ORPHA:99745
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... OMIM:254210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiome... OMIM:201475
Developmental And Epileptic Encephalopathy 41
Inability to walk, Flexion contracture, Lethargy OMIM:617105
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Apneic episodes precipitated by illness, fatigue, stress, Episodic ataxia OMIM:312170
Crigler-Najjar Syndrome
Jaundice, Lethargy, Abnormality of the liver ORPHA:205
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Respiratory insufficiency, Hepatomegaly, Pancreatitis ORPHA:27
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy OMIM:613877
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Loss of consciousness ORPHA:156
Febrile Infection-Related Epilepsy Syndrome
Cough, Lethargy, Sinusitis ORPHA:163703
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomega... OMIM:619048
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:201450
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Dystonia, Lethargy, Ataxia, Respiratory insufficiency OMIM:618226
Acquired Partial Lipodystrophy
Generalized hirsutism, Hepatic steatosis, Lipoatrophy ORPHA:79087
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Hypoglycemic coma, Hepatomegaly, Drowsiness, Loss of consciousness ORPHA:324575
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy ORPHA:26
Multiple Carboxylase Deficiency
Coma, Lethargy, Respiratory distress, Ataxia, Alopecia, Tachypnea ORPHA:148
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Respiratory insufficiency OMIM:618228
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Respiratory insufficiency ORPHA:2432
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hypogonadism, Hepatic failure OMIM:617872
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Flexion contracture, Hirsutism, Respiratory distress OMIM:618006
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Myopathy And Diabetes Mellitus
Inability to walk, Delirium, Respiratory distress, Achilles tendon contracture, Progressive cereb... ORPHA:2596
Fructose-1,6-Bisphosphatase Deficiency
Coma, Dyspnea, Elevated hepatic transaminase, Respiratory distress, Hepatic steatosis, Excessive ... ORPHA:348
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Coma, Lethargy, Acute hepatic steatosis, Apnea OMIM:210200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegal... ORPHA:369840
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Coma, Drowsiness, Lethargy, Pancreatic islet-cell hyperplasia ORPHA:276608
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Thin skin, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Polycystic ovaries, Hepatom... ORPHA:2348
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia OMIM:618683
Ebola Hemorrhagic Fever
Coma, Restrictive ventilatory defect, Lethargy, Cough, Acute hepatic failure, Epistaxis ORPHA:319218
Bardet-Biedl Syndrome 16
Hypogonadism, Respiratory distress, External genital hypoplasia OMIM:615993
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Acute pancreatitis, Hepatomegaly, Increa... OMIM:608600
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress OMIM:614741
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Hepatomegaly, Ascit... ORPHA:2414
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Lipodystrophy, Hirsutism, Polycystic ovaries, Loss of gluteal subcu... OMIM:604367
Hodgkin Lymphoma
Dyspnea, Cough, Ataxia, Hepatomegaly, Splenomegaly ORPHA:98293
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dystonia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Respiratory distress, Respiratory insufficiency ORPHA:238329
Citrullinemia Type Ii
Coma, Delirium, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcin... ORPHA:247585
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Elevated hepatic transaminase OMIM:610498
Pseudo-Torch Syndrome 2
Lethargy, Elevated hepatic transaminase, Respiratory insufficiency, Hepatomegaly, Decreased liver... OMIM:617397
Staphylococcal Necrotizing Pneumonia
Lethargy, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infe... ORPHA:36238
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Lethargy, Elevated circulating thyroid-stimulating hormone concentra... ORPHA:95717
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Increased adipose tissue around the neck, Lipody... ORPHA:435660
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lethargy, Elevated hepatic transaminase, Respiratory distress, Enlarged kidney, Macrovesic... OMIM:608836
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Citrullinemia, Type Ii, Adult-Onset
Coma, Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Confusion, Panc... OMIM:603471
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Coma, Lethargy, Confusion, Hepatomegaly, Decreased liver function OMIM:238970
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Flexion contracture OMIM:300884
Myotonic Dystrophy 1
Respiratory distress, Excessive daytime somnolence, Cholelithiasis, Testicular atrophy, Frontal b... OMIM:160900
Evans Syndrome
Jaundice, Lethargy, Dyspnea, Epistaxis ORPHA:1959
Pyruvate Dehydrogenase E3 Deficiency
Lethargy, Elevated hepatic transaminase, Ataxia, Hepatomegaly, Hepatic failure ORPHA:2394
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Dyspnea, Gait disturbance, Ataxia, Multiple lipomas, Tachypnea ORPHA:765
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Respiratory distress, Ataxia, Alopecia, Tachypnea ORPHA:79242
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Dystonia, Ataxia, Hyperactivity OMIM:615924
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Lethargy OMIM:201470
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Respiratory distress, Thin skin, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Malaria
Reduced consciousness/confusion, Gait imbalance, Respiratory distress ORPHA:673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Pneumonia, Splenomegaly OMIM:608971
Early Myoclonic Encephalopathy
Lethargy ORPHA:1935
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Lipodystrophy, Polycystic ovaries, Hepatomegaly, Loss of gluteal subcutaneous ... ORPHA:435651
Glycerol Kinase Deficiency
Cryptorchidism, Loss of consciousness, Lethargy, Coma OMIM:307030
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Increased intraabdominal fat, Hepatic steatosis, Adipose tissue loss, I... OMIM:151660
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Severe Canavan Disease
Inability to walk, Lethargy ORPHA:314911
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly, Ataxia, Respiratory insufficiency OMIM:612015
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy OMIM:615980
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Respiratory distress, Bradykinesia ORPHA:240085
Coproporphyria, Hereditary
Respiratory paralysis, Confusion, Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hepatomegaly OMIM:232700
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Azoospermia, Oligospermia OMIM:615703
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Thin skin, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hepatomegaly, Pancreati... ORPHA:79083
Congenital Generalized Lipodystrophy
Low anterior hairline, Cirrhosis, Hepatic steatosis, Adipose tissue loss, Lipodystrophy, Polycyst... ORPHA:528
Akt2-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Hepatic steatosis, Lipodystrophy, Polycystic ovaries, Hepatomegaly ORPHA:79085
Propionic Acidemia
Coma, Dystonia, Lethargy, Apnea, Hepatomegaly, Pancreatitis, Tachypnea OMIM:606054
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Scrub Typhus
Restrictive ventilatory defect, Lethargy, Dyspnea, Cough, Reduced consciousness/confusion, Spleno... ORPHA:83317
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Macrovesicular hepatic steatosis, Bradykinesia, Cholestasis, Hepatomegaly OMIM:614924
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Difficulty walking, Gait disturbance, Leg dystonia, Oculog... ORPHA:255
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Cardiorespiratory arrest, Hepatic steatosis, Hepat... OMIM:212138
Mitochondrial Trifunctional Protein Deficiency
Coma, Lethargy, Toe walking, Chronic hepatic failure, Respiratory insufficiency, Cholestasis, Res... ORPHA:746
Dengue Fever
Lethargy, Cardiorespiratory arrest, Epistaxis, Hepatomegaly, Ascites ORPHA:99828
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated hepatic transaminase OMIM:306000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Flexion contract... OMIM:615381
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Respiratory distress, Camptodactyly, Ataxia, Hepatomegaly, Knee fl... OMIM:608799
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Hepatitis, Fulminant Viral, Susceptibility To
Coma, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites ORPHA:890
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Dystonia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicu... OMIM:256810
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly ORPHA:796
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Ventilator dependence with inability to wean, Respirato... ORPHA:254875
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Lethargy, Inguinal hernia, Pulmonary arterial hypertension, Tachypnea OMIM:614857
Marburg Hemorrhagic Fever
Lethargy, Elevated hepatic transaminase, Cough, Jaundice, Pancreatitis ORPHA:99826
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Pan... OMIM:618805
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Biotinidase Deficiency
Apnea, Lethargy, Ataxia, Hepatomegaly, Alopecia, Splenomegaly, Tachypnea OMIM:253260
Sialidosis Type 2
Dyspnea, Flexion contracture, Ataxia, Umbilical hernia, Hepatomegaly, Inguinal hernia, Ascites, S... ORPHA:87876
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Scarring alopecia of scalp, Cholestasis, Hepatomegaly, Jaundic... ORPHA:59303
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Exertional dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:178500
Niemann-Pick Disease, Type B
Hepatomegaly, Dyspnea, Splenomegaly OMIM:607616
Interstitial Lung And Liver Disease
Cirrhosis, Dyspnea, Elevated hepatic transaminase, Hepatic steatosis, Cough, Respiratory insuffic... OMIM:615486
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Hyperinsulinism Due To Hnf4A Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Hepatomegaly, Drowsiness, Increased hepatic glycog... ORPHA:263455
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Respiratory distress, Scrotal hypoplasia, Decreased liver function, Micropenis OMIM:615597
Leukoencephalopathy With Vanishing White Matter
Gait disturbance, Lethargy, Premature ovarian insufficiency, Unsteady gait OMIM:603896
Babesiosis
Coma, Cough, Respiratory insufficiency, Confusion, Jaundice, Hepatomegaly, Hepatic failure, Splen... ORPHA:108
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Elevated hepatic iron co... ORPHA:139507
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Lethargy, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Testicular ... ORPHA:465508
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Lethargy, Decreased liver function OMIM:614922
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Dystonia, Wheezing, Restrictive ventilatory defect, Respiratory distress... OMIM:610978
Carnitine-Acylcarnitine Translocase Deficiency
Coma, Lethargy, Elevated hepatic transaminase, Sudden episodic apnea, Respiratory insufficiency, ... ORPHA:159
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Coma, Lethargy, Respiratory distress OMIM:251110
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Respiratory distress, Flexion contracture, Respiratory ... ORPHA:367
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Neonatal respiratory distress, Congenital contracture, Respiratory... OMIM:615042
Thyroid Dyshormonogenesis 1
Lethargy, Goiter, Umbilical hernia OMIM:274400
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly OMIM:618495
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology ORPHA:324581
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:613313
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Increased intraabdominal fat, Premature graying of hair, Thin skin, Hep... ORPHA:280365
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Abnormality of the hepatic vasculature, Restrictive ventilatory defect, Dy... ORPHA:210136
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Alopecia, Ataxia OMIM:275630
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Coma, Lethargy, Pancreatitis OMIM:251000
Insulinoma
Coma, Lethargy, Pituitary prolactin cell adenoma, Reduced consciousness/confusion, Primary hyperp... ORPHA:97279
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Portal f... OMIM:614300
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Succinic Acidemia
Respiratory distress OMIM:600335
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Arthrogryposis multiplex congenita, Respiratory distress, Respiratory insufficien... ORPHA:1145
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Flexion contracture, Splenomegaly OMIM:608540
Aicardi-Goutieres Syndrome 4
Dystonia, Elevated hepatic transaminase, Respiratory insufficiency, Hepatomegaly, Splenomegaly, H... OMIM:610333
Acquired Methemoglobinemia
Coma, Dyspnea, Respiratory distress, Confusion, Drowsiness, Hypoxemia, Loss of consciousness ORPHA:464453
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Coma, Lethargy, Respiratory distress OMIM:251100
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low anterior hairline, Highly arched eyebrow, Microvesicular hepatic steatosis, Increased hepatoc... OMIM:220111
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Lethargy, Respiratory failure, Ataxia OMIM:615838
Argininosuccinic Aciduria
Coma, Lethargy, Dry hair, Ataxia, Hepatic fibrosis, Hepatomegaly, Brittle hair, Elevated circulat... OMIM:207900
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Alopecia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Rift Valley Fever
Coma, Lethargy, Cholestasis, Jaundice, Hepatic failure ORPHA:319251
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Hepatic steatosis, Cough, Hypopitu... OMIM:619013
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress OMIM:300934
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis,... ORPHA:905
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Ogden Syndrome
Cryptorchidism, Lethargy, Excessive daytime somnolence, Inguinal hernia, Torticollis, Aplasia/Hyp... ORPHA:276432
Complete Atrioventricular Septal Defect
Wheezing, Lethargy, Elevated pulmonary artery pressure, Crackles, Hepatomegaly, Pulmonary venous ... ORPHA:1329
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Familial Thyroid Dyshormonogenesis
Lethargy, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Umbilical herni... ORPHA:95716
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Hypospadias, Decreased testicular size, Nonprog... OMIM:610198
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Hypopigmentation of hair, Lethargy, Obstructive sleep apnea, Central sleep apnea,... ORPHA:398079
Infantile Liver Failure Syndrome 2
Jaundice, Lethargy, Acute hepatic failure, Elevated hepatic transaminase OMIM:616483
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Flexion contracture, Respiratory insufficiency due to muscle weakness, Wris... ORPHA:1143
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Increased hepatocellular lipid droplets, Ataxia, Respir... OMIM:220110
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Difficulty walking, Cough, Waddling gait, Left ventricular hypertr... ORPHA:86812
Cyclic Vomiting Syndrome
Attention deficit hyperactivity disorder, Lethargy, Ataxia OMIM:500007
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma... OMIM:235200
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Apnea, Lethargy, Elevated hepatic transaminase, Hypoglycemic coma, Ataxia, Acute pancreatit... ORPHA:20
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Uncombable hair, Hepatomegaly, Hepatitis, Brittle hair, Pili canaliculi, ... OMIM:614602
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Elevated hepatic transaminase, Respiratory insufficiency, Cholestasis, Respiratory fail... OMIM:609015
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Drowsiness, Abnormality of the liver, Loss of consciousness ORPHA:2169
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Focal dystonia, Bradykinesia ORPHA:240103
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease, Respiratory insufficiency ORPHA:2924
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Elevated hepatic transaminase, Respiratory distress, Episodic tachypnea, Pneumonia, Hep... ORPHA:26793
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Lethargy, Elevated hepatic transaminase, Confusion, Progressive cerebellar ataxia, Spastic ... ORPHA:415
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Recurrent pneumonia, Low anterior hairline, Respiratory distress, Enlarged kid... OMIM:617303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Low anterior hairline, Elevated hepatic transaminase, Respiratory distress, External genital hypo... ORPHA:329178
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Gait disturbance, Lethargy OMIM:236270
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Hepatic failure OMIM:618528
Nipah Virus Disease
Coma, Cough, Respiratory distress ORPHA:99825
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Hepatic fibrosi... ORPHA:369
Sialuria
Sleep apnea, Synophrys, Hypoplastic nipples, Hepatomegaly, Inguinal hernia, Splenomegaly, General... OMIM:269921
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Respiratory failure, Tachypnea, Hyp... ORPHA:178320
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Alopecia, Tachypnea, Hyperventilation OMIM:253270
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Hypoglycemic coma, Hepatomegaly, Jaundice, Hepatic perip... OMIM:231680
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Hypopigmentation of hair, Lethargy, Sleep apnea, Obstructive sleep apnea, Prematu... ORPHA:398069
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Thick hair, Ataxia, Hepatomegaly, Hepatic failure, Sple... OMIM:613489
Cushing Disease
Lethargy, Thin skin, Lipodystrophy, Generalized hirsutism, Adrenal hyperplasia, Premature ovarian... ORPHA:96253
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hepatosplenomegaly OMIM:611590
Stt3B-Cdg
Cryptorchidism, Scrotal hypoplasia, Micropenis, Respiratory distress ORPHA:370924
Heme Oxygenase 1 Deficiency
Hepatomegaly OMIM:614034
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Respiratory distress, Gait disturbance, Blepharospasm, Laryngeal dystonia, To... ORPHA:98805
Avian Influenza
Dyspnea, Respiratory distress, Elevated hepatic transaminase, Pleural effusion, Cough, Nonproduct... ORPHA:454836
Maple Syrup Urine Disease
Coma, Lethargy, Ataxia, Pancreatitis OMIM:248600
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic steatosis, Apnea, Hepatic failure OMIM:261680
Central Neurocytoma
Coma, Lethargy, Ataxia ORPHA:73256
Citrullinemia, Classic
Coma, Cirrhosis, Lethargy, Ataxia, Hepatomegaly OMIM:215700
Myxedema
Lethargy, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Ddost-Cdg
Hepatic steatosis, Lipodystrophy, Elevated hepatic transaminase ORPHA:300536
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Lethargy, Dysmetria, Episodic respiratory distress OMIM:301790
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypogonadism, Azoospermia, Splenomegaly OMIM:615234
Hurler-Scheie Syndrome
Hepatomegaly, Hernia, Rhinitis, Splenomegaly, Generalized hirsutism ORPHA:93476
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Oromandibular Dystonia
Respiratory distress, Blepharospasm, Lingual dystonia, Laryngeal dystonia, Torticollis, Generaliz... ORPHA:93958
Hypoglossia With Situs Inversus
Upper airway obstruction, Polysplenia, Asplenia, Respiratory distress OMIM:612776
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Crimean-Congo Hemorrhagic Fever
Elevated hepatic transaminase, Cardiorespiratory arrest, Hepatic steatosis, Cough, Epistaxis, Jau... ORPHA:99827
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:615895
Progeria-Short Stature-Pigmented Nevi Syndrome
Central sleep apnea, Lack of facial subcutaneous fat, Elevated hepatic transaminase, Hypergonadot... ORPHA:2959
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Polycystic ovaries, Pancreatitis, Splen... ORPHA:90970
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Gait imbalance OMIM:618120
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Cryptorchidism, Ataxia, Hypospadias OMIM:604273
Perlman Syndrome
Cryptorchidism, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hypo... ORPHA:2849
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Cholestasis ORPHA:570422
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue, Clitoral hypertr... OMIM:608594
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Scarring, Periporta... ORPHA:101330
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Respiratory distress OMIM:616733
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Panniculitis, Acute pancreatitis, Polycystic ovaries, Hepatomegaly,... ORPHA:79086
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pleural effusion, Emphysema, Hepatomegal... OMIM:612387
Encephalopathy, Recurrent, Of Childhood
Athetosis, Lethargy, Truncal ataxia OMIM:130950
Inhalational Anthrax
Confusion, Abnormal sweat gland morphology, Dyspnea, Respiratory distress ORPHA:247257
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Diaphanospondylodysostosis
Respiratory distress, Enlarged kidney, Webbed neck, Respiratory insufficiency, Tracheomalacia, Ab... OMIM:608022
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Umb... ORPHA:226313
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Inability to walk, Gait ataxia, Respiratory distress, Flexion contracture, Hepatomegaly, Thick ey... OMIM:619383
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Exertional dyspnea, Gait disturbance, Excessive daytime somnolence, Ataxia, Respiratory insuffici... ORPHA:436271
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Anaplastic Thyroid Carcinoma
Goiter, Respiratory distress, Dyspnea, Cough, Upper airway obstruction, Stridor, Nodular goiter ORPHA:142
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Thyroid Lymphoma
Dyspnea, Goiter, Respiratory distress, Upper airway obstruction, Stridor ORPHA:97285
Central Diabetes Insipidus
Excessive daytime somnolence, Lethargy ORPHA:178029
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Jaundice, Hepatic fail... OMIM:619232
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Susac Syndrome
Confusion, Lethargy, Gait ataxia ORPHA:838
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Confusion, Hep... ORPHA:71212
Mercury Poisoning
Dystonia, Dyspnea, Respiratory distress, Interstitial pneumonitis, Confusion, Respiratory failure... ORPHA:330021
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Elevated hepatic transaminase, Reduced intraabdominal adipose tissue, Clitoral hypertr... OMIM:269700
Moebius Syndrome
Dysdiadochokinesis, Arthrogryposis multiplex congenita, Respiratory distress, Camptodactyly, Gait... OMIM:157900
Farber Lipogranulomatosis
Hepatomegaly, Respiratory insufficiency, Splenomegaly OMIM:228000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Elevated hepatic transaminase ORPHA:2089
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Gaucher Disease, Perinatal Lethal
Apnea, Arthrogryposis multiplex congenita, Respiratory distress, Akinesia, Hepatomegaly, Splenome... OMIM:608013
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Pituitary hypothyroidism, Prolonged neonatal jaundice, Increased circulating prolactin ... ORPHA:99832
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, I... OMIM:614921
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Biliary tract abnormality, Cholangitis, Respiratory failur... ORPHA:1549
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism OMIM:613730
Cimdag Syndrome
Dystonia, Microvesicular hepatic steatosis, Lipodystrophy, Ataxia, Cholelithiasis, Hepatomegaly, ... OMIM:619273
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Splenomegaly, Hyperactivity OMIM:252900
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Genetic Transient Congenital Hypothyroidism
Lethargy, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Umbilical herni... ORPHA:226316
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Classic Hodgkin Lymphoma
Cough, Respiratory insufficiency, Ataxia, Hepatomegaly, Splenomegaly ORPHA:391
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Amelogenesis imperfecta, Elevated hepatic transaminase OMIM:614727
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Isovaleric Acidemia
Coma, Lethargy OMIM:243500
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy ORPHA:49827
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Hypermanganesemia With Dystonia 1
Cirrhosis, Dystonia, Elevated hepatic transaminase, Bradykinesia, Hepatomegaly, Decreased liver f... OMIM:613280
Necrotizing Enterocolitis
Peritonitis, Apnea, Lethargy, Ascites ORPHA:391673
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy OMIM:233910
Meningococcal Meningitis
Drowsiness, Lethargy, Neonatal respiratory distress, Reduced consciousness/confusion ORPHA:33475
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Waddling gait, Weakness of muscles of respiration ORPHA:52430
Mitochondrial Complex I Deficiency, Nuclear Type 1
Coma, Lethargy, Ataxia, Respiratory insufficiency, Hepatomegaly, Respiratory failure, Hepatic fai... OMIM:252010
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Cardiomegaly, Splenomegaly, Hyperactivity OMIM:252920
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Episodic ataxia, Lethargy, Ataxia OMIM:311250
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Hepatomegaly, Stridor, Dyspnea, Respiratory insufficiency OMIM:615182
Tularemia
Respiratory distress, Pleural effusion, Cough, Pneumonia, Confusion ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Elevated hepatic transaminase OMIM:618958
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Goiter, Macroorchidism, Pituitary hypothyroidism, Umbilical hernia, Prolonged neonatal ... ORPHA:90674
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Recurrent aspiration pneumonia, Splenomegaly OMIM:230900
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Respiratory failure,... OMIM:609981
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Lethargy, Cardiorespiratory arrest, Blepharospasm, Oculogyric crisis, Torticollis, Limb dy... OMIM:608643
19P13.12 Microdeletion Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Hepatic steatosis, Synophrys, Hyperactivity, ... ORPHA:254346
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Dystonia, Respiratory distress, Webbed neck, Elevated circulating thyroid-st... ORPHA:209905
Beta-Thalassemia
Cholelithiasis, Respiratory insufficiency, Hepatomegaly, Hepatitis, Splenomegaly, Hypogonadotropi... ORPHA:848
Leigh Syndrome With Cardiomyopathy
Apnea, Dystonia, Respiratory distress, Central hypoventilation, Ataxia, Decreased liver function,... ORPHA:70474
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Hernia, Splenomegaly, Hyperactivity OMIM:252930
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Coma, Dystonia, Lethargy, Gait ataxia, Craniofacial dystonia, Confusion OMIM:607483
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Synophrys, Hepatic fibrosis, Hepatomegaly, Decreased liver fun... OMIM:606003
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Respiratory insufficiency due to muscle weakness OMIM:500009
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Ataxia, Respiratory insufficiency, Stridor, Nocturnal hypoventilation OMIM:211530
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Ataxia OMIM:618426
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hurler-Scheie Syndrome
Hirsutism, Umbilical hernia, Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Obstruc... OMIM:607015
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Lethargy OMIM:615751
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, White hair, ... ORPHA:381
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Elevated circulating alanine aminotransferase concentration, Respiratory fa... ORPHA:308552
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Dystonia, Splenomegaly OMIM:615846
Hereditary Fructose Intolerance
Coma, Lethargy, Chronic hepatic failure, Hepatomegaly, Jaundice ORPHA:469
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia OMIM:615704
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress, Congenital diaphragmatic hernia ORPHA:2140
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Camptodactyly, Cholestasis, Hepatomegaly, Decreased liver function, Ascites OMIM:608104
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Slc35A1-Cdg
Hypoxemia, Cellulitis, Pneumonia, Respiratory distress ORPHA:238459
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:232400
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Biotinidase Deficiency
Apnea, Lethargy, Respiratory distress, Ataxia, Alopecia, Hyperventilation ORPHA:79241
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Respiratory insufficiency ORPHA:1759
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Lethargy, Ataxia OMIM:237300
Alstrom Syndrome
Elevated hepatic transaminase, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic h... OMIM:203800
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Camptodactyly of finger, Flexion contracture, Hepatomegaly, Respiratory failure, ... ORPHA:1194
Immunodeficiency, Common Variable, 1
Bronchiectasis, Recurrent sinusitis, Pneumonia, Hepatomegaly, Splenomegaly, Recurrent pneumonia OMIM:607594
Lassa Fever
Pleural effusion, Cough, Lethargy, Cardiorespiratory arrest ORPHA:99824
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Splenomegaly OMIM:603552
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Cardiomegaly ORPHA:858
Yellow Fever
Jaundice, Lethargy, Acute hepatic failure, Cardiorespiratory arrest ORPHA:99829
Histiocytoid Cardiomyopathy
Lethargy, Cough, Polycystic ovaries, Hepatomegaly, Drowsiness, Cardiomegaly, Tachypnea, Loss of c... ORPHA:137675
Infantile Sialic Acid Storage Disease
Fair hair, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Autosomal Dominant Progressive External Ophthalmoplegia
Lethargy, Goiter, Gait ataxia, Elevated hepatic transaminase, Exertional dyspnea, Gait disturbanc... ORPHA:254892
Juvenile Sialidosis Type 2
Loss of ability to walk, Visceromegaly, Ataxia, Umbilical hernia, Hepatomegaly, Generalized hyper... ORPHA:93399
Sialuria
Sleep apnea, Elevated hepatic transaminase, Cholelithiasis, Hepatomegaly, Upper airway obstructio... ORPHA:3166
Visceral Steatosis, Congenital
Coma, Jaundice, Lethargy, Hepatic steatosis OMIM:228100
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly ORPHA:2584
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Ataxia OMIM:613839
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Ata... ORPHA:98907
Isolated Complex I Deficiency
Hepatomegaly, Lethargy, Ataxia, Respiratory insufficiency ORPHA:2609
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Respiratory failure, Omphalocele, Respiratory distress OMIM:617895
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Mucopolysaccharidosis, Type Iiid
Flexion contracture, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Thick eyebrow, Splenomegaly... OMIM:252940
Gaucher Disease, Type Iii
Hepatomegaly, Ataxia, Splenomegaly OMIM:231000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Neonatal respiratory distress, N... OMIM:610921
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Prolo... ORPHA:90673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Splenomegaly, Elevated hepatic ... OMIM:616860
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Leber Congenital Amaurosis 1
Hepatomegaly OMIM:204000
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis, Abnormal subcut... OMIM:212065
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Flexion contracture, Hirsutism, ... OMIM:613327
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Flexion contracture, Ataxia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomega... OMIM:616263
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly ORPHA:100024
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Dyspnea, Pleural effusion, Cough, Emphysema, Ataxia, Hepatomegaly... ORPHA:36412
Microcephaly, Amish Type
Hepatomegaly, Flexion contracture OMIM:607196
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Small scrotum, Tachypnea, Elevated hepatic transaminase, Hepatic steatosis, Cough, Emp... OMIM:613658
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Dyspnea, Pulmonary arterial hypertension ORPHA:422
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly OMIM:618852
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating alanine aminotransferase concentration, Recurrent sinusitis, Hepatomegaly, S... OMIM:615559
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Ascites, Abnormal vagina morphology ORPHA:2123
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Ataxia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Galactosemia I
Cirrhosis, Hypergonadotropic hypogonadism, Hepatomegaly, Decreased liver function, Premature ovar... OMIM:230400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Respiratory distress ORPHA:89844
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness OMIM:613561
Immunodeficiency, Common Variable, 2
Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Splenomegaly, Recurrent pneumonia OMIM:240500
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Congenital Myasthenic Syndrome
Arthrogryposis multiplex congenita, Episodic respiratory distress, Sudden episodic apnea, Central... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Arthrogryposis multiplex congenita, Episodic respiratory distress, Sudden episodic apnea, Central... ORPHA:98914
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Gait disturbance, Respiratory insufficiency ORPHA:2971
Cockayne Syndrome Type 2
Enamel hypoplasia, Cryptorchidism, Male hypogonadism, Difficulty walking, Scarring, Gait disturba... ORPHA:90322
Kniest Dysplasia
Respiratory distress, Gait disturbance, Umbilical hernia, Tracheomalacia, Inguinal hernia, Hip co... OMIM:156550
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Fetal ascites, Cholestasis, Hepatitis, Hepatic failure ORPHA:292
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcin... ORPHA:2137
Aredyld Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the eyebrow, Lipoatrophy, Hepatomegaly, ... ORPHA:1133
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly OMIM:617713
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis OMIM:605479
Fructose Intolerance, Hereditary
Coma, Cirrhosis, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:229600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Sleep apnea, Respiratory distress, Exertional dyspnea, Difficulty walking, Ele... ORPHA:365
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Asthma, Splenomegaly OMIM:612714
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Thin eyebrow, Absent eyebrow, Respiratory failure, Clitoral hypert... ORPHA:2707
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hepatic failure ORPHA:228305
Medulloblastoma
Lethargy, Elevated hepatic transaminase, Ataxia, Progressive cerebellar ataxia, Cerebellar ataxia... ORPHA:616
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia, Hepatomegaly,... OMIM:170100
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Peroxisome Biogenesis Disorder 3A (Zellweger)