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Gene: Adk MGI:87930

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

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
abnormal spleen morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00
decreased exploration in new environment Adkem1(IMPC)Ccpcz HET Early adult 4.78×10-11
decreased locomotor activity Adkem1(IMPC)Ccpcz HET Early adult 3.05×10-05
abnormal spine curvature Adkem1(IMPC)Ccpcz HET   Early adult 3.04×10-05
abnormal lung morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00
enlarged lung Adkem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Adkem1(IMPC)Ccpcz HOM   Early adult 0.00
increased lung tissue damping Adkem1(IMPC)Ccpcz HET Early adult 2.58×10-05
abnormal thymus morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00

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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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Hind Leg and Hip

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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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
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Failu... OMIM:614480
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Sudden Infant Death Syndrome
Apneic episodes in infancy, Malignant hyperthermia OMIM:272120
Pulmonary Blastoma
Fever, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Hepatic steatosis ORPHA:26792
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... OMIM:232700
Mitochondrial Complex I Deficiency, Nuclear Type 13
Fever, Hepatomegaly, Failure to thrive, Apnea OMIM:618235
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased muscle lipid content, Hepat... OMIM:610717
Mitochondrial Complex I Deficiency, Nuclear Type 5
Hepatomegaly, Apnea, Respiratory insufficiency, Growth delay, Failure to thrive, Ptosis OMIM:618226
2Q24 Microdeletion Syndrome
Central apnea, Small for gestational age, Growth delay, Failure to thrive, Downslanted palpebral ... ORPHA:1617
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hepatomegaly, Hepatic failure, Failure to thrive, Hepatic steatosis OMIM:617872
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Fever, Failure to thrive in infancy OMIM:619175
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Apnea, Ptosis OMIM:614198
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Ravine Syndrome
Failure to thrive, Apnea, Decreased body weight ORPHA:99852
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hepatic steatosis ORPHA:436182
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Obesity And Hypopigmentation
Hepatic steatosis, Obesity OMIM:620195
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Obesity OMIM:615703
Rotor Syndrome
Conjunctival icterus, Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Tuberculosis
Fever, Weight loss, Cough ORPHA:3389
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Increased hepat... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Hepatic steatosis OMIM:615918
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Fructose-1,6-Bisphosphatase Deficiency
Fever, Hepatomegaly, Apnea, Dyspnea, Hyperventilation OMIM:229700
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Severe Neonatal-Onset Encephalopathy With Microcephaly
Growth delay, Apnea, Respiratory insufficiency ORPHA:209370
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Epicanthus, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Res... ORPHA:2257
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Failure to thrive, Apnea, Decreased liver function OMIM:614883
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation, Heat intolerance OMIM:619483
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Apneic episodes in infancy, Hepatic f... OMIM:619111
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Very long chain fatty acid accumulation, Elevated hepati... OMIM:264470
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Upslanted palpebral fissure, Apnea, Respiratory insufficiency OMIM:617290
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Apneic episodes in infancy ORPHA:500545
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Apnea OMIM:210200
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Fever, Acholic stools ORPHA:70567
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hepatocellular car... ORPHA:369
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Gracile Syndrome
Cholestasis, Cirrhosis, Elevated hepatic iron concentration, Intrauterine growth retardation, Hep... ORPHA:53693
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Fever, Weight loss ORPHA:2023
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Congenital Myopathy 11
Elevated hepatic transaminase, Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Short stature, Hepatosplenomegaly, Restrictive ventilatory defect,... OMIM:619013
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Ptosis OMIM:614669
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Growth delay, Bronchospasm, Abnormal patte... OMIM:608800
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Short stature ORPHA:300536
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Apnea, Palpebral edema, Jaundice, Upsl... OMIM:214110
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Postnatal g... ORPHA:79303
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea OMIM:618414
Myoclonus, Intractable, Neonatal
Apnea, Ptosis OMIM:617235
Propionic Acidemia
Hepatomegaly, Apnea, Short stature, Tachypnea, Failure to thrive, Pancreatitis OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Apnea, Respiratory insufficiency OMIM:618228
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hypothermia,... OMIM:251880
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Joubert Syndrome 33
Splenomegaly, Apnea OMIM:617767
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ptosis OMIM:618225
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... OMIM:610198
Phosphoserine Aminotransferase Deficiency
Apnea OMIM:610992
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency, Ptosis OMIM:618198
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Short stature ORPHA:977
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Joubert Syndrome 30
Tachypnea, Apnea, Ptosis OMIM:617622
Hemochromatosis, Type 4
Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:606069
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Fever, Apnea, Elevate... OMIM:608836
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Apnea, Central hypoventilation, Unexplained fevers, Neonatal death OMIM:620167
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... OMIM:615486
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ... OMIM:618641
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... OMIM:616433
Idiopathic Bronchiectasis
Fever, Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Abnormal respiratory system physi... ORPHA:60033
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Apnea OMIM:616277
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... OMIM:614921
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Apnea OMIM:611523
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Postnat... OMIM:617093
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Decreased liver function, Hepatic steatosi... ORPHA:42
48,Xxyy Syndrome
Epicanthus, Apnea, Asthma, Obesity, Upslanted palpebral fissure, Blepharophimosis ORPHA:10
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Highly arched eyebrow, C... ORPHA:1454
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis, Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, ... OMIM:312170
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity OMIM:615996
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... OMIM:610921
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Long palpebral fissure, Apnea OMIM:619797
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased muscle glycogen content, Incre... OMIM:261750
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Neonatal death, Pu... OMIM:265120
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:86893
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Intermittent hyperventilation,... ORPHA:348
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Fever, Apnea, Hypothermia, Jaund... ORPHA:20
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... OMIM:618253
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Respiratory arrest, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:600649
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ectropion OMIM:275630
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Slender build OMIM:256030
Autoinflammatory-Pancytopenia Syndrome
Fever, Hepatosplenomegaly, Growth delay, Cholestatic liver disease, Hepatic fibrosis, Failure to ... OMIM:619858
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Short stature ORPHA:320385
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Respiratory failure, Hepatic steatosis, Cirrhosis ORPHA:363400
Juvenile Neuronal Ceroid Lipofuscinosis
Non-periodic recurrent fever, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Short stature OMIM:615031
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss ORPHA:42642
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Telecanthus, Apnea, Recurrent pneumonia, Aspiration pneumo... ORPHA:314655
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Tachypnea, Hepatocellular necrosis, Periportal fibrosis, Respiratory arrest, Hepati... OMIM:201475
Hypophosphatasia, Infantile
Fever, Apnea, Stillbirth, Disproportionate short-limb short stature, Failure to thrive OMIM:241500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Fever, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Ins... ORPHA:79127
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Joubert Syndrome 7
Central apnea, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation, Ptosis OMIM:611560
Joubert Syndrome 3
Central apnea, Epicanthus, Episodic tachypnea, Highly arched eyebrow, Neonatal breathing dysregul... OMIM:608629
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Respiratory insufficienc... OMIM:609981
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Pontocerebellar Hypoplasia, Type 16
Apnea, Ptosis OMIM:619527
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis OMIM:615980
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Ectropion, Short stature, Micronodular cirrhosis, Ob... ORPHA:98907
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Acute hepatic failure, Hepatomegaly, Failure to thrive, Short stature, Elev... OMIM:256810
Recurrent Respiratory Papillomatosis
Respiratory distress, Fever, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obst... ORPHA:60032
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Increased sarcoplasmic glycogen, Sple... ORPHA:264580
Chronic Bilirubin Encephalopathy
Central apnea, Fever, Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal j... ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Fever, Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal j... ORPHA:529799
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Telecanthus, Jaundice, Neonatal death, Hepatic periportal nec... OMIM:231680
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Abnormality of the extraocular muscles, Mac... ORPHA:298
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Apnea, Hypothermia, Growth del... ORPHA:17
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Chylomicron Retention Disease
Elevated hepatic transaminase, Growth delay, Increased hepatocellular lipid droplets, Failure to ... ORPHA:71
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis OMIM:231530
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Hepatosplenomegaly, Decreased body weigh... OMIM:608013
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Short stature, Upslanted palpebral fissure, Ptosis OMIM:314580
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Monosomy 13Q34
Epicanthus, Epistaxis, Obesity, Growth delay, Downslanted palpebral fissures, Horizontal eyebrow,... ORPHA:96168
Cholestasis, Progressive Familial Intrahepatic, 9
Fever, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic ... OMIM:619849
Cryptogenic Organizing Pneumonia
Respiratory distress, Fever, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Whee... ORPHA:1302
Fatal Familial Insomnia
Fever, Apnea, Weight loss OMIM:600072
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Large for gestational age, Multiple pancreatic beta-cell adenomas, Diffuse pancreatic isle... ORPHA:79644
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Jaundice, Apnea, Respiratory insufficiency OMIM:608093
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Apnea, Temperature instability ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Respiratory failure, Stillbirth, Decreased liver function, Neonatal death, Hepatic ... OMIM:614922
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Downslanted pa... ORPHA:79322
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea OMIM:610015
Nasolacrimal Duct Cyst
Fever, Intercostal retractions, Chronic irritative conjunctivitis, Abnormal lacrimal sac morpholo... ORPHA:141083
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Hypothermia OMIM:614498
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Restrictive ventilatory defect, Hepatic steatosis, Hepatomegaly ORPHA:369840
Chronic Pneumonitis Of Infancy
Respiratory distress, Fever, Intercostal retractions, Reduced forced vital capacity, Tachypnea, H... ORPHA:91359
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ptosis, Respiratory insufficiency due to muscle weakness, Res... OMIM:220110
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypothermia, Respiratory insufficiency, Respiratory failure, Bile ... OMIM:618329
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ptosis, Respiratory insufficiency due to muscle weakness, Decreased liver function,... ORPHA:436271
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Ptosis OMIM:617143
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Stridor, Cough, Failure to thrive, Recurrent aspiration pneumonia OMIM:230900
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Fever, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bron... ORPHA:411703
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Follicular Lymphoma
Abnormal peritoneum morphology, Fever, Splenomegaly, Weight loss, Pleural effusion ORPHA:545
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Downslanted palpebral fissures, Apnea, Shallow orbits ORPHA:1129
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Short stature, Weakness of muscles of respiration ORPHA:52430
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:100024
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hepatomegaly, Failure to thrive, Apnea, Hypothermia, Dyspnea, Episodic respiratory distres... ORPHA:255210
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Abnormality of temperature regulation, Apnea, Central hypoventilation, Hypercapn... OMIM:209880
Atypical Rett Syndrome
Growth delay, Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Illum Syndrome
Temperature instability, Apnea OMIM:208155
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Dyspnea, Hypoxem... ORPHA:140896
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Sudden episodic apnea, Hypothermia, Respiratory insu... ORPHA:159
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Apnea, Cardiorespiratory arrest, Blepharospasm, Temperature instability... OMIM:608643
Biotinidase Deficiency
Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Conjunctivitis OMIM:253260
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:201450
Mogs-Cdg
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Hepatosplenomegaly, Long eyelashes, S... ORPHA:79330
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... ORPHA:101330
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Epicanthus, Failure to thrive in infancy, Microvesicular hepatic ... OMIM:619418
Classic Hodgkin Lymphoma
Fever, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Weight loss, Cough ORPHA:391
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Inflammatory Pseudotumor Of The Liver
Fever, Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, ... ORPHA:90003
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibr... OMIM:619377
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Hepatic fibrosis, I... ORPHA:541423
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Epicanthus, Short stature, Apnea, Rhizomelic leg shortening, Tachy... ORPHA:397715
Rett Syndrome
Cachexia, Apnea, Short stature, Intermittent hyperventilation OMIM:312750
Beta-Thalassemia
Hepatomegaly, Abnormality of temperature regulation, Splenomegaly, Hepatitis, Respiratory insuffi... ORPHA:848
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic st... OMIM:617156
Lymphoid Interstitial Pneumonia
Fever, Hepatomegaly, Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restric... ORPHA:79128
19P13.12 Microdeletion Syndrome
Epicanthus, Synophrys, Obesity, Intrauterine growth retardation, Hepatic steatosis ORPHA:254346
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Fever, Hyperpyrexia, Neonatal respiratory distress, Apnea, Stridor, Growth delay, Aspiration, Int... OMIM:614653
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Failure to thrive, Apnea, Splenomegaly, Respiratory insufficiency, Growth delay, Up... OMIM:252010
Joubert Syndrome
Apnea, Episodic tachypnea, Highly arched eyebrow, Abnormal pattern of respiration, Ptosis ORPHA:475
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Hypopnea, Growth delay, Respiratory failure, Neonatal death, Respiratory arrest,... OMIM:617248
Pneumocystosis
Fever, Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respirat... ORPHA:723
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Apneic episodes in infancy, Small for gestational age ORPHA:3078
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Idiopathic Pulmonary Hemosiderosis
Fever, Hepatomegaly, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respi... ORPHA:99931
Pseudo-Torch Syndrome 3
Apnea, Recurrent fever, Respiratory insufficiency OMIM:618886
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea, Obesity OMIM:300055
Congenital Generalized Lipodystrophy
Hepatomegaly, Failure to thrive, Hepatic steatosis, Cirrhosis ORPHA:528
Autosomal Agammaglobulinemia
Fever, Epicanthus, Sinusitis, Bronchiectasis, Hepatitis, Conjunctivitis, Cough, Failure to thrive ORPHA:33110
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cardiorespiratory arrest OMIM:212138
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hepatic fibrosis, Hepatoc... ORPHA:247585
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Familial Chylomicronemia Syndrome
Acute pancreatitis, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Dec... ORPHA:444490
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Short stature, Asthma, Rec... OMIM:203800
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... OMIM:300972
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Pneumothorax, Growth delay, Respiratory failure, Hepatic steatosis ORPHA:445038
Hyperglycinemia, Lactic Acidosis, And Seizures
Growth delay, Apnea, Respiratory insufficiency OMIM:614462
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Hepatic necros... ORPHA:71212
Avian Influenza
Respiratory distress, Elevated hepatic transaminase, Fever, Pneumonia, Productive cough, Nonprodu... ORPHA:454836
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis OMIM:604367
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Hepatic fibrosis,... OMIM:616263
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... OMIM:619487
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Orofaciodigital Syndrome Xvi
Apnea, Short palpebral fissure, Ptosis OMIM:617563
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Short stature, Small for gestational age, Portal hypertension, Sle... OMIM:613658
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Fever, Portal hypertension, S... ORPHA:131
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Dubin-Johnson Syndrome
Fever, Hepatomegaly, Jaundice, Biliary tract abnormality, Abnormality of the liver ORPHA:234
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Highly arched eyebrow, Ptosis ORPHA:2318
Klatskin Tumor
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration, Highly arched eyebrow, Ptosis ORPHA:220497
Tenorio Syndrome
Telecanthus, Apnea, Recurrent pneumonia, Keratoconjunctivitis sicca, Thick eyebrow OMIM:616260
Wolman Disease
Fever, Hepatomegaly, Cachexia, Splenomegaly, Growth delay, Hepatic failure ORPHA:75233
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis ORPHA:228305
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Large for gestational age ORPHA:293964
Orofaciodigital Syndrome Type 6
Epicanthus, Apnea, Episodic tachypnea, Short stature, Highly arched eyebrow, Growth delay, Failur... ORPHA:2754
Joubert Syndrome 1
Central apnea, Epicanthus, Episodic tachypnea, Highly arched eyebrow, Hepatic fibrosis, Neonatal ... OMIM:213300
Hermansky-Pudlak Syndrome 10
Splenomegaly, Hepatomegaly, Apnea OMIM:617050
Caroli Disease
Fever, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahe... ORPHA:53035
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Intrauterine growth retardat... OMIM:616271
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Epicanthus, Telecanthus, Splenomegaly, Synophrys, Recurrent p... OMIM:617303
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Long eyelashes, Apnea, Ptosis OMIM:617301
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration, Highly arched eyebrow, Ptosis ORPHA:220493
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Respiratory insufficiency, Respiratory failure, Diffus... ORPHA:746
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Obesity, Xanthelasma, Hepatic steatosis ORPHA:412
Ogden Syndrome
Epicanthus, Apnea, Short stature, Abnormal eyelid morphology, Postnatal growth retardation, Micro... OMIM:300855
Acute Lung Injury
Respiratory distress, Fever, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respir... ORPHA:178320
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Very long chain fatty acid accumulation,... OMIM:261515
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Bloom Syndrome
Small for gestational age, Postnatal growth retardation, Bronchiectasis, Growth delay, Intrauteri... OMIM:210900
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Short stature, Apnea, Respiratory insufficiency, Re... OMIM:601559
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... OMIM:616482
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Short stature, Apnea, Cachexia, Long eyelashes in irregular rows, Re... ORPHA:800
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Short stature, Small for gestational age... ORPHA:2959
Immunodeficiency 32B
Fever, Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Failure to thrive OMIM:226990
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Pontocerebellar Hypoplasia, Type 7
Epicanthus, Synophrys, Apnea OMIM:614969
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Pancreatic And Cerebellar Agenesis
Apnea, Severe intrauterine growth retardation, Pancreatic hypoplasia, Failure to thrive, Pancreat... OMIM:609069
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Glass Syndrome
Downslanted palpebral fissures, Long eyelashes, Apnea, Short stature OMIM:612313
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Slc39A8-Cdg
Failure to thrive in infancy, Sudden episodic apnea, Short stature, Abnormality of the liver, Dis... ORPHA:468699
Bohring-Opitz Syndrome
Apnea, Short stature, Synophrys, Severe failure to thrive, Intrauterine growth retardation, Annul... ORPHA:97297
Infantile Neuroaxonal Dystrophy
Temperature instability, Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc... ORPHA:2969
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Failure to thrive... OMIM:613327
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... ORPHA:2088
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Arima Syndrome
Hepatomegaly, Dyspnea, Tachypnea, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, P... OMIM:243910
Joubert Syndrome 35
Telecanthus, Abnormality of temperature regulation, Highly arched eyebrow, Synophrys, Ptosis OMIM:618161
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:619573
Cirrhosis, Familial
Fever, Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Pulmo... OMIM:215600
Marshall-Smith Syndrome
Apnea, Short stature, Highly arched eyebrow, Synophrys, Stridor, Shallow orbits, Aspiration pneum... OMIM:602535
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Epicanthus, Apnea OMIM:618056
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Nephroblastoma
Fever, Neoplasm of the liver, Weight loss ORPHA:654
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of temperature regulation, Apnea, Splenomegaly, Growth delay, Chronic r... ORPHA:667
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Short stature, Splenomegaly, Cough ORPHA:579
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Short stature, Epistaxis, Hepatocellular carcinoma, Hepatocellul... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Almond-shaped palpebral fissure, Hepatic fibrosis, F... OMIM:212065
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Short statu... ORPHA:98908
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper... ORPHA:275761
Shprintzen-Goldberg Syndrome
Telecanthus, Apnea, Failure to thrive, Downslanted palpebral fissures, Ptosis ORPHA:2462
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... OMIM:124000
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Respiratory failure, Keratoconjunctivitis sicca, Hep... ORPHA:14
Joubert Syndrome 21
Apnea, Splenomegaly, Dyspnea, Respiratory failure, Chronic sinusitis, Ptosis OMIM:615636
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Temperatu... OMIM:619482
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax OMIM:619036
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Apnea, Short stature, Growth delay, Hyperventilation OMIM:617799
Tarp Syndrome
Apnea, Intrauterine growth retardation, Failure to thrive, Short palpebral fissure, Thick eyebrow ORPHA:2886
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Elevated circulating aspartate aminotransferase concent... OMIM:617253
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Ptosis, Pancreatic fibrosis, Small for gestational a... ORPHA:699
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Fever, Liver abscess, Dyspnea, Weight loss, Pleural empyema, Cough... ORPHA:67
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Thin eyebrow, Aspiration, Failure to thrive ORPHA:2131
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Apnea, Respiratory insufficiency OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Failure to thrive, Apnea, Respiratory insufficiency ORPHA:521426
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Failure to t... OMIM:203700
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Short stature, Small for gestational age, Almond-shaped palpebral fissure, Obesity... ORPHA:98754
Biotinidase Deficiency
Respiratory distress, Conjunctivitis, Apnea, Hyperventilation ORPHA:79241
Dilated Cardiomyopathy With Ataxia
Growth delay, Intrauterine growth retardation, Microvesicular hepatic steatosis, Elevated hepatic... ORPHA:66634
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Epicanthus, Hepatic steatosis, Ptosis OMIM:619934
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficiency, Hepatocellu... OMIM:618278
Cimdag Syndrome
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly OMIM:619273
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Cirrhosis ORPHA:79086
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Short stature, Small for gestational age, Almond-shaped palpebral fissure, Obesity... ORPHA:98793
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Failure to thrive, Apnea, Epicanthus, Blepha... OMIM:114290
Aicardi-Goutieres Syndrome 7
Fever, Hepatomegaly, Pneumonia, Splenomegaly, Hepatitis, Weight loss, Intrauterine growth retarda... OMIM:615846
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Short stature, Small for gestational age, Almond-shaped palpebral fissure, Obesity... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Short stature, Small for gestational age, Almond-shaped palpebral fissure, Obesity... ORPHA:177901
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Fever, Dyspnea, Hepatitis, Weight loss, Int... ORPHA:139402
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Hepatic calcification, Hepatic failure, Hepatic stea... ORPHA:228308
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Fever, Cholangiti... ORPHA:480520
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea, Ptosis ORPHA:466722
Aromatase Deficiency
Growth delay, Eunuchoid habitus, Hepatic steatosis, Obesity ORPHA:91
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Intrauterine growth retardation, Hepa... OMIM:615356
Osteopathia Striata With Cranial Sclerosis
Epicanthus, Apnea, Short stature, Tracheomalacia, Failure to thrive OMIM:300373
Liver Disease, Severe Congenital
Biliary hyperplasia, Elevated hepatic iron concentration, Cough, Pancreatic hypoplasia, Hepatic s... OMIM:619991
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea OMIM:619580
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hypoventilation, Abnormality of temperature regulation, Short stature, Hypothermia, Recurr... OMIM:618493
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Failure to thrive OMIM:618426
Congenital Myopathy 13
Telecanthus, Short stature, Hypercapnia, Malignant hyperthermia, Hypoxemia, Restrictive ventilato... OMIM:255995
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Congenital Horner syndrome, Neonatal respiratory distress, Telecan... OMIM:619503
Mosaic Variegated Aneuploidy Syndrome
Epicanthus, Apnea, Short stature, Growth delay, Intrauterine growth retardation, Downslanted palp... ORPHA:1052
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Apnea ORPHA:395
Genitopatellar Syndrome
Apnea, Short stature ORPHA:85201
Autoimmune Pulmonary Alveolar Proteinosis
Fever, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease... ORPHA:747
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency, Ptosis OMIM:617239
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... ORPHA:247598
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Joubert Syndrome 2
Central apnea, Failure to thrive, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Hepatic steatosis, Increased body weight ORPHA:189427
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Highly arched eyebrow, Abnormality of temperature regulation, Respiratory insufficiency OMIM:619173
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Epicanthus, Abnormal location of the eyebrow, Almond-shaped palpebral fissure, Hor... ORPHA:522077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hypoplasia of eyelid, Abdominal obesity, Intrauterine growth retardation, Hepatic ... OMIM:619321
Pulmonary Alveolar Microlithiasis
Fever, Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachy... ORPHA:60025
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Broad eyebrow, Failure to thrive, Fever, Palpebral edema, Overweig... OMIM:619475
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... ORPHA:404454
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Abnormality of temperature regulation, Postnatal gro... ORPHA:90321
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:280365
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea... OMIM:229600
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Short stature, Asthma, Intrauterine growth retardation, Recurrent fever ORPHA:3206
Wolfram Syndrome
Central apnea, Abnormal mesentery morphology, Respiratory insufficiency, Delayed puberty ORPHA:3463
Xp21 Deletion Syndrome
Growth delay, Apneic episodes in infancy ORPHA:261476
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation, Hepatitis, Cough ORPHA:1334
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Upslanted palpebral fi... OMIM:300868
Nocardiosis
Respiratory distress, Fever, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Dys... ORPHA:31204
Deeah Syndrome
Hepatomegaly, Neonatal respiratory distress, Epicanthus, Short stature, Abnormality of temperatur... OMIM:619004
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Epicanthus, Short stature, Failure to thrive in infancy, Postnatal... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Epicanthus, Short stature, Failure to thrive in infancy, Postnatal... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Epicanthus, Short stature, Failure to thrive in infancy, Postnatal... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Epicanthus, Short stature, Failure to thrive in infancy, Postnatal... ORPHA:99226
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Semilobar Holoprosencephaly
Central apnea, Short stature, Growth delay, Aspiration pneumonia, Temperature instability, Failur... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Short stature, Growth delay, Aspiration pneumonia, Temperature instability, Failur... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Short stature, Growth delay, Aspiration pneumonia, Temperature instability, Failur... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Short stature, Growth delay, Aspiration pneumonia, Temperature instability, Failur... ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Short stature, Apnea, Hypothermia, Breathing dysregulation, Almond-shaped palpeb... ORPHA:438213
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Epicanthus, Short stature, Splenomegaly, Growth delay, Cholestatic liver disease, C... OMIM:270400
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Short stature, Postnatal growth retardation, Sparse ... OMIM:619127
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic... OMIM:608594
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Short stature, Abnormality of the spleen, Obesity, Abnor... ORPHA:1606
Orofaciodigital Syndrome Type 2
Telecanthus, Tachypnea, Apnea, Short stature ORPHA:2751
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Ptosis OMIM:610188
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea, Intrauterine growth retardation ORPHA:98889
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea OMIM:261740
Diethylstilbestrol Syndrome
Central apnea, Small for gestational age ORPHA:1916
Sarcoidosis, Susceptibility To, 1
Fever, Hepatomegaly, Dyspnea, Splenomegaly, Enlarged lacrimal glands, Bronchiectasis, Weight loss... OMIM:181000
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic... OMIM:269700
Digeorge Syndrome
Short stature, Splenomegaly, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Obesity,... OMIM:188400
Pancreatitis, Hereditary
Fever, Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine ... OMIM:167800
Wiedemann-Rautenstrauch Syndrome
Fever, Entropion, Short stature, Slender build, Lagophthalmos, Synophrys, Growth delay, Upslanted... ORPHA:3455
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom... ORPHA:744
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Highly arched eyebrow, Microvesicular hepatic steatosis, Tachypnea, In... OMIM:220111
Atypical Werner Syndrome
Short stature, Decreased body weight, Failure to thrive, Hepatic steatosis, Delayed puberty, Apla... ORPHA:79474
Unilateral Polymicrogyria
Apnea, Epistaxis ORPHA:268943
Hypermobile Ehlers-Danlos Syndrome
Epicanthus, Keratoconjunctivitis sicca, Apnea, Ptosis ORPHA:285
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Short stature, Obesity, Delayed puberty ORPHA:3138
Machado-Joseph Disease Type 1
Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation ORPHA:276241
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Severe short stature, Abnormal nasolacrimal system morphology, Abnormality of tem... ORPHA:2273
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Paroxysma... ORPHA:99125
Machado-Joseph Disease Type 3
Abnormality of temperature regulation ORPHA:276244
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature, Portal hy... ORPHA:64
Pallister-Killian Syndrome
Ptosis, Telecanthus, Epicanthus, Rhizomelia, Sparse eyelashes, Mesomelic/rhizomelic limb shorteni... OMIM:601803
Homozygous Familial Hypercholesterolemia
Dyspnea, Hepatic steatosis ORPHA:391665
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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