Gene Summary

Name:
adenosine kinase
Synonyms:
5033405D03Rik,  AK,  2310026J05Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged thymus Adkem1(IMPC)Ccpcz HET Early adult 0.00
abnormal skin morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00
increased lung tissue damping Adkem1(IMPC)Ccpcz HET   Early adult 3.34×10-06
abnormal thymus morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Adkem1(IMPC)Ccpcz HOM   Early adult 0.00
decreased exploration in new environment Adkem1(IMPC)Ccpcz HET Early adult 5.32×10-17
abnormal spleen morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00
enlarged lung Adkem1(IMPC)Ccpcz HET Early adult 0.00
hypoactivity Adkem1(IMPC)Ccpcz HET Early adult 2.32×10-05
abnormal lung morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00
abnormal spine curvature Adkem1(IMPC)Ccpcz HET   Early adult 3.03×10-05

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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.

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

Human diseases caused by Adk mutations

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

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

The table below shows human diseases associated to Adk by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... OMIM:614300

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis, Respiratory distress OMIM:615595
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... OMIM:617093
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Elevated hepatic ... OMIM:614480
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Sudden Infant Death Syndrome
Apneic episodes in infancy, Malignant hyperthermia OMIM:272120
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Apnea, Hepatic steatosis, Eleva... OMIM:619048
Pulmonary Blastoma
Weight loss, Cough, Fever, Recurrent pneumonia, Dyspnea ORPHA:64741
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Intrauterine growth retardation, Respiratory distress ORPHA:26792
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Failure to thrive, Cirrhosis, ... OMIM:617156
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Fever, Splenomegaly OMIM:619175
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive OMIM:618234
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Short stature OMIM:610717
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Increased hepatic glycogen content, Postnatal growth ... OMIM:232700
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:616829
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Severe short-limb dwarfism ORPHA:436182
Ravine Syndrome
Failure to thrive, Decreased body weight, Apnea ORPHA:99852
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Small for gestation... ORPHA:70589
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Decreased liver function, Hepatic steatosis, Cholestasis, Ele... OMIM:614300
Tuberculosis
Weight loss, Cough, Fever ORPHA:3389
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Growth delay, Hypothermia, Failure to thrive, Depletion of... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:614582
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
2Q24 Microdeletion Syndrome
Central apnea, Growth delay, Small for gestational age, Failure to thrive, Downslanted palpebral ... ORPHA:1617
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Ptosis, Respirat... OMIM:254210
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Cough, Fever, Splenomegaly, Dyspnea ORPHA:98293
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Obstructive sleep apnea, Failure to thrive, Central sleep apnea, Decreased liver function, Hepati... ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Ptosis, Failure to thrive, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Ptosis OMIM:617239
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Cholangiocarcinoma
Biliary tract neoplasm, Acholic stools, Fever, Jaundice ORPHA:70567
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum, Fever ORPHA:2023
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity OMIM:615980
Myasthenic Syndrome, Congenital, 16
Apnea, Ptosis OMIM:614198
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Ptosis, Respirat... OMIM:605809
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Short stature, Elevated hepatic transaminase, Fai... OMIM:256810
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Apneic episodes in infancy ORPHA:500545
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Gaucher Disease, Type Ii
Hepatomegaly, Recurrent aspiration pneumonia, Failure to thrive, Apnea, Splenomegaly OMIM:230900
Inflammatory Pseudotumor Of The Liver
Weight loss, Abnormal liver sonography, Neoplasm of the liver, Fever, Cirrhosis, Elevated circula... ORPHA:90003
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619386
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Short stature, Cough, Hepatic steatosis, Hepatosplenomegaly, Elev... OMIM:619013
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea OMIM:618235
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Joubert Syndrome 9
Apnea, Hepatic fibrosis, Episodic tachypnea OMIM:612285
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Apnea, Respiratory insufficiency, Ptosis OMIM:618226
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Gracile Syndrome
Intrauterine growth retardation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatosi... ORPHA:53693
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Short stature, Failure to thrive ORPHA:300536
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Highly arched eyebrow, Failure to thrive, Tachypnea, Increased ... OMIM:220111
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Apnea OMIM:210200
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Coach Syndrome 2
Apneic episodes in infancy, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Eleva... OMIM:619111
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Apnea, Fever, Dyspnea, Hyperventilation OMIM:229700
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Short stature ORPHA:977
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Hepatic steatosis OMIM:606069
Halothane Hepatitis
Obesity, Hepatitis, Fever, Viral hepatitis, Jaundice OMIM:234350
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Respiratory insufficiency OMIM:611722
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea, Heat intolerance OMIM:619483
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:369840
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis,... OMIM:618641
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Failure to thrive, Splenomegaly, ... OMIM:278000
Interstitial Lung And Liver Disease
Hepatomegaly, Hypoxemia, Hepatic fibrosis, Respiratory insufficiency, Failure to thrive, Cough, C... OMIM:615486
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Failure to thrive, Hepatic steatosis, Elevated ... OMIM:212140
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Fever, Splenomegaly ORPHA:86893
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Apnea, Failure to thrive, Elevated hepatic transaminase OMIM:614883
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Apnea, Hepatic failure, Hepatic steatosis OMIM:261680
Idiopathic Bronchiectasis
Wheezing, Productive cough, Cachexia, Abnormal respiratory system physiology, Crackles, Bronchiec... ORPHA:60033
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ptosis OMIM:618225
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Failure to thrive, Upslanted palpebral fissure, Ap... OMIM:214110
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Intrauterine growth retardation,... ORPHA:2257
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Growth delay, Short stature, Increased hepatic glycogen content, Elevated hepatic t... OMIM:614921
Pfapa Syndrome
Hepatomegaly, Weight loss, Abnormality of temperature regulation, Splenomegaly ORPHA:42642
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Decreased liver function, Hepatic steatosis, Exertional dyspnea, Elevated... ORPHA:42
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Cirrhosis, Familial
Pulmonary arterial hypertension, Micronodular cirrhosis, Fever, Jaundice OMIM:215600
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Apnea, Respiratory insufficiency OMIM:614462
Leigh Syndrome With Leukodystrophy
Failure to thrive, Apnea, Ptosis ORPHA:255241
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Small for gestational age, Ptosis OMIM:312170
Chanarin-Dorfman Syndrome
Hepatomegaly, Ectropion, Hepatic steatosis OMIM:275630
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Respiratory failure, Hepatomegaly ORPHA:363400
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Apnea OMIM:611523
Chylomicron Retention Disease
Growth delay, Failure to thrive, Increased hepatocellular lipid droplets, Hepatic steatosis, Elev... ORPHA:71
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Failure to thrive, Tachypnea, Fever, Upper airway o... ORPHA:60032
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency, Ptosis OMIM:618198
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Postnatal growth retardation, Intrauterine growth retardation OMIM:610198
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Myopathy, Congenital, Bailey-Bloch
Short stature, Ptosis, Telecanthus, Downslanted palpebral fissures, Short palpebral fissure, Mali... OMIM:255995
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Growth delay OMIM:617248
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Neonatal death, Telecanthus, Hepatic steatosis, Respiratory distress, Hepatic perip... OMIM:231680
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Chronic pulmonary obstruction, Bronchiectasis, Weight loss, Reduced FEV1/FVC... ORPHA:79127
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Short stature, Failure ... OMIM:609981
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Stridor, Growth delay, Abnormal pattern of respiration, Apnea, Cardiorespiratory arrest, Bronchos... OMIM:608800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hepatomegaly, Hepatocellular necrosis, Tachypnea, Hepatic steatosis, Periport... OMIM:201475
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Fever, Restrictive ventilatory... ORPHA:724
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Respiratory arrest, Elevated hepatic transaminase OMIM:600649
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Hepatomegaly, Episodic tachypnea, Hepatic steatosis, Respiratory dist... ORPHA:348
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Failure to thrive, Gro... ORPHA:370
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splenomegaly, Biliary ... ORPHA:567983
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Recurrent fever, Hepatomegaly, Fever, Splenomegaly, Jaundice OMIM:603552
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Central hypoventilation, Apnea, Respiratory insufficiency OMIM:300673
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Slender build, Apnea OMIM:256030
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis, Growth delay OMIM:231530
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, Apnea, Central sleep apnea ORPHA:168486
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Ptosis, Weight loss, Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic tran... ORPHA:298
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Short stature, Failure to thrive, Growth delay, ... ORPHA:264580
Joubert Syndrome 30
Tachypnea, Apnea, Ptosis OMIM:617622
Monosomy 13Q34
Growth delay, Epistaxis, Epicanthus, Downslanted palpebral fissures, Horizontal eyebrow, Hepatic ... ORPHA:96168
Propionic Acidemia
Hepatomegaly, Short stature, Failure to thrive, Tachypnea, Apnea, Pancreatitis OMIM:606054
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Highly arched eyebrow, Abnormal pattern of respiration, Intrahepatic biliary atresi... ORPHA:1454
Mu-Heavy Chain Disease
Hepatomegaly, Weight loss, Fever, Splenomegaly ORPHA:100024
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Cough, Fever, R... ORPHA:1302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Failure to thrive, ... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Failure to thrive, Tachypnea, Neonatal death, Pulmonary arterial h... OMIM:265120
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Weakness of muscles of respiration, Short stature ORPHA:52430
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Fever, Splenomegaly, Pleural effusion ORPHA:545
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Respiratory insufficiency, Lipid accumulation in hepatocytes... OMIM:608836
48,Xxyy Syndrome
Upslanted palpebral fissure, Apnea, Epicanthus, Asthma, Obesity, Blepharophimosis ORPHA:10
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Hypothermia, Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Apnea, Feve... ORPHA:20
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ptosis, Failure to thrive, Respiratory insufficiency due to muscle weakness, Diffus... ORPHA:436271
Chronic Pneumonitis Of Infancy
Hypoxemia, Failure to thrive, Tachypnea, Cough, Fever, Respiratory distress, Intercostal retracti... ORPHA:91359
Nasolacrimal Duct Cyst
Abnormal breath sound, Narrow palpebral fissure, Paroxysmal dyspnea, Stridor, Dacryocystocele, Ep... ORPHA:141083
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Joubert Syndrome 3
Highly arched eyebrow, Central apnea, Ptosis, Epicanthus, Episodic tachypnea, Neonatal breathing ... OMIM:608629
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Downslanted palpebral fissures, Hepatic steato... ORPHA:79322
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:255120
Classic Hodgkin Lymphoma
Hepatomegaly, Respiratory insufficiency, Weight loss, Cough, Fever, Splenomegaly ORPHA:391
Hypophosphatasia, Infantile
Failure to thrive, Apnea, Disproportionate short-limb short stature, Stillbirth, Fever OMIM:241500
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Joubert Syndrome 7
Central apnea, Ptosis, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Fever, Splenomegaly OMIM:226990
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Weight loss, Cough, Fever,... ORPHA:411703
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Ptosis, Sparse lateral eyebrow, Apnea, Telecanthus, Downslanted palpebral fissures, Respiratory d... ORPHA:314655
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Fever, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, ... ORPHA:140896
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Ptosis, Failure to thrive, Respiratory insufficiency due to muscle weakness, Increa... OMIM:220110
Beta-Thalassemia
Hepatomegaly, Respiratory insufficiency, Hepatitis, Abnormality of temperature regulation, Cholel... ORPHA:848
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Ectropion, Ptosis, Short stature, Micronodular cirrhosis, Hepatic steatosis, Elevat... ORPHA:98907
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Apnea, Large for gest... ORPHA:79644
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Ectropion, Hepa... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Hypothermia, Failure to thrive, Bile duct proliferation, Macrovesicula... OMIM:618329
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Short stature ORPHA:320385
Juvenile Neuronal Ceroid Lipofuscinosis
Non-periodic recurrent fever, Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Growth delay, Macro... OMIM:619418
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Hepatomegaly, Wheezing, Hypoxemia, Crackles, Bronchiectasis, Failure ... ORPHA:79128
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Intrauterine growth retardation, Neonatal death, Apnea, Splenomegaly, Respiratory d... OMIM:608013
Chronic Bilirubin Encephalopathy
Central apnea, Abnormal conjunctiva morphology, Fever, Conjunctival icterus, Prolonged neonatal j... ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Abnormal conjunctiva morphology, Fever, Conjunctival icterus, Prolonged neonatal j... ORPHA:529799
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Hepatic steatosis, Hepatosplenom... ORPHA:541423
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Weight loss, Fever, Extrahepatic cholestasis, Jaundice ORPHA:99978
Joubert Syndrome 35
Highly arched eyebrow, Ptosis, Abnormality of temperature regulation, Telecanthus, Sleep apnea, S... OMIM:618161
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Failure to thrive, Weight lo... OMIM:619377
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Short stature OMIM:615031
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Dubin-Johnson Syndrome
Hepatomegaly, Fever, Abnormality of the liver, Biliary tract abnormality, Jaundice ORPHA:234
Familial Chylomicronemia Syndrome
Failure to thrive, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Acute pancreati... ORPHA:444490
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Failure to thrive ORPHA:528
Immunodeficiency 69
Failure to thrive, Hepatosplenomegaly, Fever, Splenomegaly OMIM:618963
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Epicanthus, Hepatic steatosis, Obesity, Synophrys ORPHA:254346
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Restrictive ventilatory defect, Crackles, Failure to thrive, Cough, Fever, Hepatosp... ORPHA:99931
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:615381
Budd-Chiari Syndrome
Hepatomegaly, Peritonitis, Weight loss, Fever, Splenomegaly, Cirrhosis, Acute hepatic failure, Ch... ORPHA:131
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Short stature, Neoplasm of the pancreas, Central sleep apnea, Hepatic ... ORPHA:2959
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Weight loss, Cholelithiasis, Fev... ORPHA:53035
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Decreased body mass index, Pancreatitis... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Apnea, Respiratory insufficiency, Jaundice OMIM:608093
Fatal Familial Insomnia
Weight loss, Apnea, Fever OMIM:600072
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Failure to thrive, Hepatitis, Epicanthus, Cough, Fever, Conjunctivitis ORPHA:33110
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Short stature, Ptosis, Upslanted palpebral fissure, Apnea OMIM:314580
Necrotizing Enterocolitis
Temperature instability, Apnea, Small for gestational age, Peritonitis ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Episodic respiratory distress, Hypothermia, Failure to thrive, Apnea, Fever, Hepati... ORPHA:255210
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Fever, Exertional dy... ORPHA:723
Joubert Syndrome 33
Apnea OMIM:617767
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Short stature, Truncal obesity, Hepatic steatosis, Recurr... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hepatic necrosis, Proportionate short stature... ORPHA:71212
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Failure to thrive, Weight loss, ... OMIM:619487
Wolman Disease
Hepatomegaly, Cachexia, Growth delay, Fever, Splenomegaly, Hepatic failure ORPHA:75233
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Leigh Syndrome With Cardiomyopathy
Failure to thrive, Bilateral ptosis, Apnea, Decreased liver function, Respiratory distress, Centr... ORPHA:70474
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
3-Methylglutaconic Aciduria Type 7
Growth delay, Pneumothorax, Hepatic steatosis, Respiratory failure, Elevated hepatic transaminase ORPHA:445038
Pontocerebellar Hypoplasia, Type 7
Apnea, Epicanthus OMIM:614969
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure ORPHA:228305
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Growth delay, Hypothermia, Ptosis, Failure to thrive, Apnea, Hepatic steatosis, Res... ORPHA:17
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, C... OMIM:300972
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea OMIM:614498
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiorespiratory arrest OMIM:212138
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia, Abnormality of temperature regulation, Apnea, Downslanted palpebral fissu... OMIM:209880
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Stridor, Ptosis OMIM:617143
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Weight loss, Fever, Asthma, Nonproductive cough, Restrictive venti... ORPHA:2902
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea OMIM:610015
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Fever, Respiratory distress, Acute pancreatitis, Respiratory fai... ORPHA:178320
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Short stature, Failure to thrive, Hepatic steatosis, Pancreatic f... OMIM:616263
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Pontocerebellar Hypoplasia, Type 16
Apnea, Ptosis OMIM:619527
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Respiratory insufficiency, Hypothermia, Sudden episodic apnea, Hepatic failure, Ele... ORPHA:159
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intrauterine growth retardation, Respiratory insufficiency, Small for gestational age, Short stat... OMIM:613658
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse hepatic ste... ORPHA:2137
Caroli Disease, Isolated
Recurrent fever, Cholangitis, Hepatomegaly, Fever, Portal hypertension, Liver abscess OMIM:600643
Biotinidase Deficiency
Hepatomegaly, Tachypnea, Apnea, Splenomegaly, Conjunctivitis OMIM:253260
Illum Syndrome
Temperature instability, Apnea OMIM:208155
Atypical Rett Syndrome
Growth delay, Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:3095
Myoclonus, Intractable, Neonatal
Apnea, Ptosis OMIM:617235
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Hepatitis, Cough, Fever, Respira... ORPHA:454836
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Telecanthus, Epicanthus, Long eyelashes, Splenomegaly, Macrovesicular hepatic steat... OMIM:617303
Dysbetalipoproteinemia
Hepatomegaly, Hepatic steatosis, Xanthelasma, Acute pancreatitis, Obesity ORPHA:412
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Downslanted palpebral fissures, Shallow orbits ORPHA:1129
Mogs-Cdg
Hepatomegaly, Apnea, Long eyelashes, Short palpebral fissure, Respiratory distress, Hepatosplenom... ORPHA:79330
Campomelic Dysplasia
Tracheobronchomalacia, Neonatal short-limb short stature, Failure to thrive, Apnea, Disproportion... OMIM:114290
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:79083
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Ptosis, Tachypnea, Hepatic steatosis, Dyspnea OMIM:243910
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Respiratory insufficiency, Diffuse hepatic steatosis, Cholestasis, ... ORPHA:746
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Failure to thrive ORPHA:99901
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Growth delay, Apnea, Respiratory insufficiency, Fever OMIM:614653
Familial Atrial Myxoma
Exertional dyspnea, Cholestasis, Fever, Jaundice ORPHA:615
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:90970
Rett Syndrome
Cachexia, Apnea, Short stature, Intermittent hyperventilation OMIM:312750
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis, Apnea, Intermittent hypothermia, Cardiorespiratory arrest, Temperature instability, Bleph... OMIM:608643
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Short stature, Failure to thrive, Tachypnea, Apnea, Epicanthus, R... ORPHA:397715
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive, Bile duct proliferation, Micro... OMIM:203700
Joubert Syndrome
Highly arched eyebrow, Abnormal pattern of respiration, Ptosis, Apnea, Episodic tachypnea ORPHA:475
D-Bifunctional Protein Deficiency
Hepatomegaly, Failure to thrive, Bile duct proliferation, Upslanted palpebral fissure, Epicanthus... OMIM:261515
Immunodeficiency 87 And Autoimmunity
Recurrent fever, Hepatomegaly, Intrauterine growth retardation, Growth delay, Small for gestation... OMIM:619573
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Apnea OMIM:300055
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:435660
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy, Severe postnatal growth retardation, Small for gestational age ORPHA:3078
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:613327
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Apnea, Splenomegaly OMIM:617050
Stuve-Wiedemann Syndrome 1
Recurrent fever, Respiratory insufficiency, Short stature, Apnea, Pulmonary arterial hypertension... OMIM:601559
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Respiratory insufficiency, Growth delay, Ptosis, Failure to thrive, Upslanted palpe... OMIM:252010
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:212065
Diffuse Alveolar Hemorrhage
Hypoxemia, Weight loss, Cough, Fever, Pulmonary venous hypertension, Increased DLCO, Restrictive ... ORPHA:90060
Pseudo-Torch Syndrome 3
Recurrent fever, Apnea, Respiratory insufficiency OMIM:618886
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Rhizomelia, Apnea, Short stature OMIM:602613
Proteus-Like Syndrome
Thymus hyperplasia, Bronchogenic cyst, Polycystic ovaries, Splenomegaly, Abnormality of the parat... ORPHA:2969
Nephroblastoma
Neoplasm of the liver, Weight loss, Fever ORPHA:654
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Fever, Upper airway ob... ORPHA:3348
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Fever, Abnormality of the pancreas, Elevated hepatic transaminase, Liver abscess ORPHA:54251
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Rhizomelia, Pulmonary arterial hypertension, Severe short stature, Sleep apnea, Di... OMIM:616482
Pancreatic And Cerebellar Agenesis
Failure to thrive, Apnea, Pancreatic hypoplasia OMIM:609069
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Failure to thrive, Decreased liver function, Chole... OMIM:124000
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Joubert Syndrome With Oculorenal Defect
Tachypnea, Highly arched eyebrow, Apnea, Ptosis ORPHA:2318
Neonatal Alloimmune Neutropenia
Temperature instability, Pneumonia, Fever, Jaundice ORPHA:464370
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Apnea OMIM:608809
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Apnea, Abnormal pattern of respiration, Ptosis ORPHA:220497
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Cough, Fever, Pleural empyema, Elevated hepatic transaminase, Dyspnea, Pleural effus... ORPHA:67
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Hepatic fibrosis, Ptosis, Failure to thrive, Cirrhosis,... ORPHA:14
Joubert Syndrome 1
Highly arched eyebrow, Central apnea, Hepatic fibrosis, Ptosis, Epicanthus, Episodic tachypnea, N... OMIM:213300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Reynolds Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Respiratory insufficiency, Fever, Cirrhosis, Jaundice ORPHA:779
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Growth delay, Hepatocellular carcinoma, Increased hepatic glycogen content, Failure... ORPHA:79259
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Obstructive sleep apnea, Failure to thrive, Synophrys, Apnea, Pul... OMIM:602535
Orofaciodigital Syndrome Xvi
Apnea, Ptosis, Short palpebral fissure OMIM:617563
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Short stature, Abnormality of temperature regulation, Fever, Recurrent pneumonia, Hy... OMIM:618493
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Cachexia, Hepatic fibrosis, Failure to thrive, Weight loss, Pul... ORPHA:275761
Tenorio Syndrome
Keratoconjunctivitis sicca, Pneumonia, Apnea, Telecanthus, Thick eyebrow OMIM:616260
Pearson Syndrome
Hepatomegaly, Growth delay, Small for gestational age, Macronodular cirrhosis, Ptosis, Splenomega... ORPHA:699
Bohring-Opitz Syndrome
Intrauterine growth retardation, Obstructive sleep apnea, Short stature, Annular pancreas, Apnea,... ORPHA:97297
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Apnea, Abnormal pattern of respiration, Ptosis ORPHA:220493
Primary Pigmented Nodular Adrenocortical Disease
Growth delay, Hepatic steatosis, Abdominal obesity, Elevated hepatic transaminase, Increased body... ORPHA:189439
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea, Epicanthus OMIM:618056
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Growth delay, Short stature, Failure to thrive, Apnea, Epicanthus, Episodi... ORPHA:2754
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Acute pancreatitis ORPHA:79086
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pleural effusion, Fever, Splenomegaly ORPHA:85414
Schwartz-Jampel Syndrome
Long eyelashes in irregular rows, Cachexia, Respiratory insufficiency, Short stature, Ptosis, Apn... ORPHA:800
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Slc39A8-Cdg
Failure to thrive in infancy, Sudden episodic apnea, Short stature, Disproportionate short-limb s... ORPHA:468699
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax OMIM:619036
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Long eyelashes, Ptosis OMIM:617301
Aromatase Deficiency
Hepatic steatosis, Obesity, Growth delay, Eunuchoid habitus ORPHA:91
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Fever, Splenomegaly ORPHA:33577
Myotonia Fluctuans
Apnea, Stridor ORPHA:99734
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Weight loss, C... ORPHA:284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Intrauterine growth retardation, Short stature, Hepatic steatosis, Elevated hepatic... OMIM:615356
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Intrauterine growth retardation,... ORPHA:66634
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Neonatal respiratory distress, Hepatic steatosis, Hepatic fa... ORPHA:228308
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Hyperekplexia 3
Apnea OMIM:614618
Visceral Steatosis, Congenital
Hepatic steatosis, Neonatal death, Jaundice OMIM:228100
Drug Reaction With Eosinophilia And Systemic Symptoms
Interstitial pneumonitis, Weight loss, Hepatitis, Cough, Fever, Acute hepatic failure, Elevated h... ORPHA:139402
Infantile Neuroaxonal Dystrophy
Temperature instability, Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Abdominal obesity, Increased body weight ORPHA:189427
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Weight loss, Cough, Fever, Decreased DLCO, Restrictive ventilatory defect, D... ORPHA:747
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasi... ORPHA:60025
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Growth delay, Chronic rhinitis, Abnormality of temperature regulation, Apnea, Pulmo... ORPHA:667
Seckel Syndrome 10
Severe short stature, Hepatic steatosis, Elevated circulating alanine aminotransferase concentrat... OMIM:617253
Prader-Willi-Like Syndrome
Narrow palpebral fissure, Central apnea, Almond-shaped palpebral fissure, Obstructive sleep apnea... ORPHA:398073
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Lagopthalmos, Obstructive sleep apnea, Small for ... ORPHA:404454
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Mucopolysaccharidosis Type 1
Sinusitis, Short stature, Apnea, Cough, Splenomegaly ORPHA:579
Glycogen Storage Disease Ii
Hepatomegaly, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Fever,... OMIM:232300
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Hepatic steatosis, H... ORPHA:247598
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Fever ORPHA:86884
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Short stature, Hypoplasia of eyelid, Hepatic steatosis, Abdomina... OMIM:619321
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Almond-shaped palpebral fissure, Obstructive sleep apnea, Small for gestational ag... ORPHA:98754
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Highly arched eyebrow, Abnormality of temperature regulation, Respiratory insufficiency OMIM:619173
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Almond-shaped palpebral fissure, Obstructive sleep apnea, Small for gestational ag... ORPHA:98793
Shprintzen-Goldberg Syndrome
Ptosis, Failure to thrive, Apnea, Telecanthus, Downslanted palpebral fissures ORPHA:2462
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:280365
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Almond-shaped palpebral fissure, Obstructive sleep apnea, Small for gestational ag... ORPHA:177904
Fructose Intolerance, Hereditary
Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic steatosis, Elevated hepatic transaminase, Jau... OMIM:229600
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Por... ORPHA:171
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Neonatal respiratory distress, Tachypnea, Proportionate short stature, Postnatal g... ORPHA:79345
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Almond-shaped palpebral fissure, Obstructive sleep apnea, Small for gestational ag... ORPHA:177901
Cockayne Syndrome Type 1
Hepatomegaly, Failure to thrive, Abnormality of temperature regulation, Postnatal growth retardat... ORPHA:90321
Neutral Lipid Storage Myopathy
Hepatomegaly, Short stature, Hepatic steatosis, Chronic pancreatitis, Cholecystitis, Elevated hep... ORPHA:98908
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Apnea, Short palpebral fissure, Thick eyebrow ORPHA:2886
Nocardiosis
Productive cough, Pneumonia, Peritonitis, Pneumothorax, Weight loss, Dacryocystitis, Fever, Liver... ORPHA:31204
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Letterer-Siwe Disease
Dyspnea, Hepatosplenomegaly, Fever, Jaundice OMIM:246400
Alternating Hemiplegia Of Childhood
Thin eyebrow, Failure to thrive, Apnea, Respiratory distress, Aspiration ORPHA:2131
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Restrictive ventilatory defect, Hypopnea, Apnea, Hypoventilation, Temperature instability, Aspira... OMIM:619482
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Deeah Syndrome
Hepatomegaly, Neonatal respiratory distress, Intrauterine growth retardation, Short stature, Abno... OMIM:619004
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Recurrent fever, Broad eyebrow, Intrauterine growth retardation, Failure to thrive, Synophrys, Up... OMIM:619475
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation, Conjunctivitis ORPHA:79241
Osteopathia Striata With Cranial Sclerosis
Short stature, Failure to thrive, Apnea, Epicanthus, Tracheomalacia OMIM:300373
Hereditary Elliptocytosis
Cholelithiasis, Fever, Splenomegaly, Postnatal growth retardation, Prolonged neonatal jaundice, J... ORPHA:288
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Failure to thrive, B... OMIM:619525
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Hepatomegaly, Acute pancreatitis OMIM:151660
Chronic Mucocutaneous Candidiasis
Hepatitis, Abnormality of temperature regulation, Cough ORPHA:1334
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Neck pterygia, Hepatic fibrosis, Short stature, Ptosis, Intrauterin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Neck pterygia, Hepatic fibrosis, Short stature, Ptosis, Intrauterin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Neck pterygia, Hepatic fibrosis, Short stature, Ptosis, Intrauterin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Neck pterygia, Hepatic fibrosis, Short stature, Ptosis, Intrauterin... ORPHA:99226
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Almond-shaped palpebral fissure, Epicanthus, Abnormal location of the eyebrow, Hor... ORPHA:522077
Joubert Syndrome 21
Dyspnea, Apnea, Ptosis OMIM:615636
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Apnea, Respiratory insufficiency OMIM:617527
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Elevated hepatic tr... OMIM:608594
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Apnea, Respiratory insufficiency ORPHA:521426
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Growth delay, Short stature, Apnea, Epicanthus, Downslanted palp... ORPHA:1052
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Apnea ORPHA:395
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Ptosis ORPHA:466722
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea OMIM:619580
Joubert Syndrome 2
Failure to thrive, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608091
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Elevated hepatic tr... OMIM:269700
Genitopatellar Syndrome
Apnea, Short stature ORPHA:85201
1P36 Deletion Syndrome
Abnormality of the spleen, Short stature, Annular pancreas, Failure to thrive, Epicanthus, Abnorm... ORPHA:1606
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Failure to thrive, Upslanted palpebral fissure, Apnea, Long eyelas... OMIM:619503
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Hypoxemia, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, Fev... OMIM:181000
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Short stature, Sparse eyebrow, Macrovesicular hepatic steatosis, Postnatal growth r... OMIM:619127
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Fever, Exocrine pancreatic insuffi... OMIM:167800
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Fever, Cholesterol gallstones, Abnormality... ORPHA:521219
Wolfram Syndrome
Delayed puberty, Central apnea, Abnormality of mesentery morphology, Respiratory insufficiency ORPHA:3463
Stüve-Wiedemann Syndrome
Recurrent fever, Intrauterine growth retardation, Short stature, Apnea, Respiratory distress, Asthma ORPHA:3206
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Almond-shaped palpebral fissure, Obstructive sleep apnea, Hypothermia, Short stature, Apnea, Brea... ORPHA:438213
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Neoplasm of the lung, Thymus hyperplasia, Abnormal lung lobatio... ORPHA:744
Xp21 Deletion Syndrome
Apneic episodes in infancy, Growth delay ORPHA:261476
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Lagopthalmos, Intrauterine growth retardation, Growth del... ORPHA:3455
Semilobar Holoprosencephaly
Central apnea, Growth delay, Abnormal pattern of respiration, Short stature, Failure to thrive, T... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Growth delay, Abnormal pattern of respiration, Short stature, Failure to thrive, T... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Growth delay, Abnormal pattern of respiration, Short stature, Failure to thrive, T... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Growth delay, Abnormal pattern of respiration, Short stature, Failure to thrive, T... ORPHA:93924
Atypical Werner Syndrome
Short stature, Failure to thrive, Hepatic steatosis, Decreased body weight, Aplasia/Hypoplasia of... ORPHA:79474
Diethylstilbestrol Syndrome
Central apnea, Small for gestational age ORPHA:1916
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea, Intrauterine growth retardation ORPHA:98889
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Telecanthus, Short stature ORPHA:2751
Ulnar-Mammary Syndrome
Obesity, Abnormality of temperature regulation, Delayed puberty, Short stature ORPHA:3138
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Heat intolerance, Thin eyebrow, Growth delay, Failure to thrive, Abnormality of temperature regul... ORPHA:2273
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Dyspnea ORPHA:391665
Machado-Joseph Disease Type 1
Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation ORPHA:276241
Machado-Joseph Disease Type 3
Abnormality of temperature regulation ORPHA:276244
Alström Syndrome
Short stature, Hepatitis, Splenomegaly, Hepatosplenomegaly, Restrictive ventilatory defect, Porta... ORPHA:64
Joubert Syndrome 5
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:610188
Unilateral Polymicrogyria
Epistaxis, Apnea ORPHA:268943
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Apnea, Epicanthus, Ptosis ORPHA:285
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Paroxysmal dyspnea, Apneic episodes in infancy, Pulmonary arterial hypertension, Ex... ORPHA:99125
Pallister-Killian Syndrome
Apneic episodes in infancy, Sparse eyelashes, Growth delay, Ptosis, Upslanted palpebral fissure, ... OMIM:601803
Acute Transverse Myelitis
Abnormality of temperature regulation, Fever ORPHA:139417

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 Adk

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 Adk.

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

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MGI Allele Allele Type Produced
Adktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adkem1(IMPC)Ccpcz Exon Deletion Mice

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