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
abnormal spine curvature Adkem1(IMPC)Ccpcz HET   Early adult 3.04×10-05
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 4.14×10-12
decreased locomotor activity Adkem1(IMPC)Ccpcz HET   Early adult 3.08×10-05
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
abnormal thymus morphology Adkem1(IMPC)Ccpcz HET Early adult 0.00
increased lung tissue damping Adkem1(IMPC)Ccpcz HET Early adult 2.58×10-05

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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 Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

MicroCT E9.5

Embryo reconstruction

3 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, Cholestasis, Hepatic steatosis, Elevated circulating alanine ... 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
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Intrauterine gr... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... 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
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Hepatic steatosis, Failure to thrive ORPHA:26792
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... OMIM:232700
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Fever, Apnea, Failure to thrive OMIM:618235
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive OMIM:620357
2Q24 Microdeletion Syndrome
Failure to thrive, Downslanted palpebral fissures, Central apnea, Growth delay, Small for gestati... ORPHA:1617
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Fever, Failure to thrive, Hepatic steatosis, Hepatomegaly OMIM:617872
Pulmonary Blastoma
Dyspnea, Weight loss, Fever ORPHA:64741
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Fever, Failure to thrive in infancy, Splenomegaly OMIM:619175
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Apnea, Ptosis, Hepatomegaly, Growth delay OMIM:618226
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Myasthenic Syndrome, Congenital, 16
Ptosis, Apnea, Bilateral ptosis OMIM:614198
Ravine Syndrome
Apnea, Failure to thrive, Decreased body weight ORPHA:99852
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function OMIM:616829
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Sudden ep... OMIM:254210
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hepatic steatosis ORPHA:436182
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Obesity And Hypopigmentation
Obesity, Hepatic steatosis OMIM:620195
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Epicanthus, Hepatomegaly, Very long chai... OMIM:264470
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Sudden ep... OMIM:605809
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death OMIM:615228
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Neonatal death OMIM:615918
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis OMIM:615703
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepati... OMIM:614582
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Apnea, Hepatic steatosis, Elevated circulating a... OMIM:261680
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Fever, Apnea, Hepatomegaly, Hyperventilation OMIM:229700
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased live... OMIM:614883
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Conge... OMIM:619111
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Failure to thrive ORPHA:500545
Wolman Disease
Fever, Failure to thrive, Acute hepatic failure, Splenomegaly, Hepatomegaly OMIM:620151
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Fever, Acholic stools ORPHA:70567
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Acute hepatic steatosis, Failure to thrive OMIM:210200
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Gracile Syndrome
Cholestasis, Intrauterine growth retardation, Hepatic steatosis, Cirrhosis, Elevated hepatic iron... ORPHA:53693
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino... OMIM:618805
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Short stature OMIM:612526
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Growth delay ORPHA:209370
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Undifferentiated Pleomorphic Sarcoma
Weight loss, Fever, Abnormal peritoneum morphology ORPHA:2023
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Heat intolerance, Central hypoventilation OMIM:619483
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Ddost-Cdg
Short stature, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failur... ORPHA:300536
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Upslanted palpebral fissure OMIM:617290
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Auriculocondylar Syndrome 2A
Respiratory distress, Ptosis, Apnea OMIM:614669
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Palpebral edema, Intrauterine growth retardation, Apnea, Upslanted palpebral f... OMIM:214110
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress, Elevated circulating aspartate aminotransferase concentr... OMIM:615595
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Inflammatory Pseudotumor Of The Liver
Fever, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, ... ORPHA:90003
Propionic Acidemia
Failure to thrive, Apnea, Tachypnea, Pancreatitis, Hepatomegaly, Short stature OMIM:606054
Myoclonus, Intractable, Neonatal
Ptosis, Apnea OMIM:617235
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Postnatal growt... OMIM:610198
Joubert Syndrome 33
Apnea, Splenomegaly OMIM:617767
Phosphoserine Aminotransferase Deficiency
Apnea OMIM:610992
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis, Apnea OMIM:618225
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Carnitine Deficiency, Systemic Primary
Failure to thrive, Respiratory distress, Elevated circulating aspartate aminotransferase concentr... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Adrenomyodystrophy
Short stature, Hepatic steatosis, Failure to thrive ORPHA:977
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Congenital Myopathy 11
Apneic episodes in infancy, Elevated circulating hepatic transaminase concentration OMIM:619967
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 57
Unexplained fevers, Central hypoventilation, Apnea, Neonatal death, Small for gestational age OMIM:620167
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis OMIM:608709
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis ORPHA:280356
Pontocerebellar Hypoplasia Type 4
Central apnea ORPHA:166063
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea OMIM:611722
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Hepatitis Delta
Hepatic failure, Hepatitis, Fever, Elevated circulating aspartate aminotransferase concentration,... ORPHA:402823
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver function, Elevated... OMIM:617093
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Failure to thrive OMIM:618228
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... ORPHA:42
Pontocerebellar Hypoplasia, Type 6
Apnea, Failure to thrive OMIM:611523
Joubert Syndrome 30
Ptosis, Tachypnea, Apnea OMIM:617622
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Elevated circulating hepatic transaminase concentration, Abnormal pattern ... ORPHA:1454
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Elevated circulating... OMIM:619386
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Fever, Apnea, Hypothermia, Lipid accumul... ORPHA:20
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Long palpebral fissure, Apnea OMIM:619797
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Fever, Weight loss, Splenomegaly ORPHA:86893
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea OMIM:613869
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Malignant hyperthermia, Elevated circulating hepatic transaminase conce... OMIM:614921
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ectropion OMIM:275630
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Dyspnea, Respiratory distress, Episodic ... ORPHA:348
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Hepatic steatosis, Decreased liver function ORPHA:70472
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Failure to thrive, Central hypoventilation OMIM:300673
48,Xxyy Syndrome
Obesity, Apnea, Upslanted palpebral fissure, Epicanthus, Blepharophimosis ORPHA:10
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Failure to thrive, Recurrent fever, Fever, Hepatospl... OMIM:619858
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Central apnea ORPHA:320385
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis, Apnea OMIM:618198
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Growth delay, Splenomegaly, Increased hepatic glycogen content... OMIM:261750
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Pfapa Syndrome
Hepatomegaly, Weight loss, Abnormality of temperature regulation, Splenomegaly ORPHA:42642
Congenital Myopathy 14
Apnea OMIM:618414
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Neonatal death OMIM:610127
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Central apnea OMIM:615031
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Fever, Elevated circulating aspartate am... OMIM:608836
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Small for gestational age OMIM:312170
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepat... OMIM:619013
Primary Pulmonary Hypoplasia
Failure to thrive, Intrauterine growth retardation, Apnea, Epicanthus, Tachypnea ORPHA:2257
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Fever, Failure to thrive, Apnea, Stillbirth OMIM:241500
Nemaline Myopathy 2
Slender build, Apnea OMIM:256030
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Gr... ORPHA:71
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Non-periodic recurrent fever, Apnea ORPHA:79264
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity OMIM:615980
Pontocerebellar Hypoplasia, Type 16
Ptosis, Apnea OMIM:619527
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Growth delay, Hepatic steatosis OMIM:231530
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Small for gestational age ORPHA:70589
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Growth delay, Micronodular cirrhosis, Failure to thrive, Hepatocellular necrosis... OMIM:256810
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Growth delay, Hypothermia, Abnormal pattern of respiration OMIM:608800
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Respiratory distress, Telecanthus, Hepatic steatosis, Neonatal death... OMIM:231680
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Fever, Central apnea, Prolonged neonatal jaundice, Abnormal conjunctiva mor... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Fever, Central apnea, Prolonged neonatal jaundice, Abnormal conjunctiva mor... ORPHA:529799
Immunodeficiency 40
Recurrent fever, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:616433
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Apnea, Focal pancreatic islet hy... ORPHA:79644
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Abnormality of the extraocular muscles, ... ORPHA:298
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,... ORPHA:17
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Dyspnea, Failure to thrive, Cholestasis, Elevated circulating ... OMIM:615486
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ... OMIM:614300
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Apnea, Failure to thrive OMIM:620646
Gaucher Disease, Perinatal Lethal
Hepatic failure, Respiratory distress, Hepatosplenomegaly, Intrauterine growth retardation, Apnea... OMIM:608013
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Sparse lateral eyebrow, Downslanted palpebral fissures, Respiratory distress, Telecanthus, Apnea,... ORPHA:314655
Fatal Familial Insomnia
Apnea, Weight loss, Fever OMIM:600072
Joubert Syndrome 3
Highly arched eyebrow, Episodic tachypnea, Epicanthus, Ptosis, Central apnea OMIM:608629
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Tachypnea, Hepatomegaly OMIM:201475
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Ptosis, Central apnea OMIM:611560
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Apnea, Small for gestational age OMIM:618253
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Fever... OMIM:619849
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis ORPHA:363400
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Shallow orbits, Downslanted palpebral fissures ORPHA:1129
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Dow... ORPHA:79322
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Hypothermia OMIM:614498
Wieacker-Wolff Syndrome
Short stature, Ptosis, Apnea, Upslanted palpebral fissure OMIM:314580
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Ectropion, Hepat... ORPHA:98907
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Dyspnea, Failure to thrive, Fever, Apnea, Hypothermia, Episodic respiratory dist... ORPHA:255210
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Monosomy 13Q34
Horizontal eyebrow, Downslanted palpebral fissures, Obesity, Hepatic steatosis, Epicanthus, Growt... ORPHA:96168
Mu-Heavy Chain Disease
Hepatomegaly, Fever, Weight loss, Splenomegaly ORPHA:100024
Congenital Neuronal Ceroid Lipofuscinosis
Apnea ORPHA:168486
Mogs-Cdg
Short palpebral fissure, Respiratory distress, Hepatosplenomegaly, Apnea, Long eyelashes, Hypoven... ORPHA:79330
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Atypical Rett Syndrome
Episodic tachypnea, Abnormal pattern of respiration, Growth delay, Sudden episodic apnea ORPHA:3095
Glutamine Deficiency, Congenital
Apnea, Neonatal death OMIM:610015
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Elevated circulating aspartate amin... OMIM:605814
Necrotizing Enterocolitis
Peritonitis, Apnea, Small for gestational age, Temperature instability ORPHA:391673
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ... OMIM:619418
Biotinidase Deficiency
Apnea, Splenomegaly, Tachypnea, Hepatomegaly, Conjunctivitis OMIM:253260
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Failure to thrive, Decreased liver function, Ptosis, Exertional dyspnea, Hepatomegaly, Diffuse he... ORPHA:436271
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Illum Syndrome
Temperature instability, Apnea OMIM:208155
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Apnea, Elevated circulating hepatic transaminase concentration OMIM:608093
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ptosis, Apnea, Hypoventilation OMIM:617143
Rett Syndrome
Short stature, Intermittent hyperventilation, Cachexia, Apnea OMIM:312750
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Obesity, Hepatic steatosis, Epicanthus, Synophrys ORPHA:254346
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Decreased liver function, Respiratory distress, Ptosis, Increased intramyocell... OMIM:220110
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:201450
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Neonatal death, Stillbirth, Hepatomegaly OMIM:614922
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypothermia, Hepatomega... ORPHA:159
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:615381
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Joubert Syndrome
Highly arched eyebrow, Abnormal pattern of respiration, Episodic tachypnea, Apnea, Ptosis ORPHA:475
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Temperature instability, Intermittent hypothermia, Apnea, Ptosis OMIM:608643
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Short stature, Hepatic steatosis ORPHA:52430
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy, Severe postnatal growth retardation, Small for gestational age ORPHA:3078
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Respiratory distress, Apnea, Neonatal death, Tachypnea, Exertional dyspnea, Dy... OMIM:610921
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Apnea OMIM:300055
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... ORPHA:71212
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Fever, Episodic respiratory distress, Chronic irrita... ORPHA:141083
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... ORPHA:247585
Central Hypoventilation Syndrome, Congenital, 1
Downslanted palpebral fissures, Central hypoventilation, Nocturnal hypoventilation, Apnea, Hypove... OMIM:209880
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Failure to thrive ORPHA:528
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Failure to thrive, Rhizomelic arm shorte... ORPHA:397715
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Pt... OMIM:614924
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:605911
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation OMIM:618233
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... OMIM:616263
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Fever, Acute hepatic failure, Portal hyp... ORPHA:131
Garg-Mishra Progeroid Syndrome
Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis OMIM:620601
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Dubin-Johnson Syndrome
Fever, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice ORPHA:234
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:435651
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin... ORPHA:2137
Joubert Syndrome With Oculorenal Defect
Ptosis, Highly arched eyebrow, Tachypnea, Apnea ORPHA:2318
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:619487
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Failure to thrive, Apnea, Splenomegaly, Upslanted palpebral fissure, Ptosis, Inc... OMIM:252010
Orofaciodigital Syndrome Xvi
Ptosis, Short palpebral fissure, Apnea OMIM:617563
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Klatskin Tumor
Fever, Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Wolman Disease
Hepatic failure, Fever, Splenomegaly, Cachexia, Hepatomegaly, Growth delay ORPHA:75233
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... ORPHA:53035
Joubert Syndrome With Renal Defect
Ptosis, Highly arched eyebrow, Apnea, Abnormal pattern of respiration ORPHA:220497
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic s... ORPHA:228305
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Failure to thrive OMIM:230900
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Apnea, Splenomegaly OMIM:617050
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:618329
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Failure to thrive, Episodic tachypnea, Apnea, Epicanthus, Short stature, G... ORPHA:2754
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hepatic steatosis, Failure to thrive OMIM:236200
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly ORPHA:79083
Tenorio Syndrome
Telecanthus, Apnea, Thick eyebrow, Keratoconjunctivitis sicca OMIM:616260
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis... ORPHA:99901
Dysbetalipoproteinemia
Obesity, Xanthelasma, Hepatic steatosis, Hepatomegaly, Acute pancreatitis ORPHA:412
Joubert Syndrome 1
Hepatic fibrosis, Highly arched eyebrow, Episodic tachypnea, Epicanthus, Ptosis, Central apnea OMIM:213300
Joubert Syndrome With Ocular Defect
Ptosis, Highly arched eyebrow, Apnea, Abnormal pattern of respiration ORPHA:220493
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Respiratory distress, Intrauterine growth retardation, Hepatic steatosis, Growth delay OMIM:616271
Pseudo-Torch Syndrome 3
Apnea, Recurrent fever OMIM:618886
D-2-Hydroxyglutaric Aciduria 1
Apnea OMIM:600721
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Hepatic ... OMIM:261515
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Familial Chylomicronemia Syndrome
Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Decreased body weight, Recurrent pancre... ORPHA:444490
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis ORPHA:2348
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
3-Methylglutaconic Aciduria, Type Viii
Hypopnea, Failure to thrive, Apnea, Neonatal death, Jaundice, Growth delay OMIM:617248
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Long eyelashes, Telecanthus, Splenomegaly, Epicanthus, Hepatomegaly, Macrov... OMIM:617303
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Fever, Respiratory distress, Tachypnea, Hyperventilation ORPHA:91359
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Growth delay OMIM:614462
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Small for gestational age, Hepatic steat... ORPHA:2959
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Fever, Intrauterine growth retardation, Apnea, Hyperpyrexia, Growth delay OMIM:614653
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Stuve-Wiedemann Syndrome 1
Short palpebral fissure, Fever, Recurrent fever, Intrauterine growth retardation, Apnea, Abnormal... OMIM:601559
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Abnormality of temperature regulation, Hepatomegaly ORPHA:848
Pontocerebellar Hypoplasia, Type 7
Epicanthus, Apnea, Synophrys OMIM:614969
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Failure to thrive, Apnea, Severe intrauterine growth retardation, Pancreat... OMIM:609069
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Glycine Encephalopathy With Normal Serum Glycine
Ptosis, Long eyelashes, Apnea OMIM:617301
Ogden Syndrome
Palpebral thickening, Sparse eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Postnatal... OMIM:300855
Glass Syndrome
Short stature, Long eyelashes, Apnea, Downslanted palpebral fissures OMIM:612313
Slc39A8-Cdg
Disproportionate short-limb short stature, Failure to thrive in infancy, Abnormality of the liver... ORPHA:468699
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Bronchogenic cyst, Splenomegaly, Polycy... ORPHA:2969
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:212138
Schwartz-Jampel Syndrome
Blepharospasm, Malignant hyperthermia, Abnormal eyebrow morphology, Long eyelashes in irregular r... ORPHA:800
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Intrauterine growth retardation, Apnea, Severe failure to thriv... ORPHA:97297
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th... OMIM:613658
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis ORPHA:435660
Arima Syndrome
Hepatic fibrosis, Dyspnea, Hepatic steatosis, Tachypnea, Cirrhosis, Ptosis, Hepatomegaly, Growth ... OMIM:243910
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ... OMIM:611126
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Joubert Syndrome 35
Highly arched eyebrow, Telecanthus, Ptosis, Abnormality of temperature regulation, Synophrys OMIM:618161
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Growth delay, Hepatic steatosis ORPHA:445038
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Respiratory distress, Neonatal ... OMIM:616482
Fanconi-Bickel Syndrome
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... ORPHA:2088
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Epicanthus, Apnea OMIM:618056
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Temperature instability ORPHA:35069
Myotonia Fluctuans
Apnea ORPHA:99734
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Hepatic... OMIM:613327
Shprintzen-Goldberg Syndrome
Failure to thrive, Downslanted palpebral fissures, Telecanthus, Apnea, Ptosis ORPHA:2462
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Hyperventilation, Apnea OMIM:617903
Hyperekplexia 3
Apnea OMIM:614618
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Nephroblastoma
Neoplasm of the liver, Weight loss, Fever ORPHA:654
Bloom Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hepatic steatosis, Growth delay, S... OMIM:210900
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Recurrent fever, Cholestasis, Elevated circulating aspartate aminotransferase co... OMIM:619573
Mucopolysaccharidosis Type 1
Short stature, Apnea, Splenomegaly ORPHA:579
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... ORPHA:98908
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Short stature, Hyperventilation, Growth delay, Small for gestational age OMIM:617799
Tarp Syndrome
Short palpebral fissure, Failure to thrive, Intrauterine growth retardation, Apnea, Thick eyebrow ORPHA:2886
Seckel Syndrome 10
Severe short stature, Elevated circulating aspartate aminotransferase concentration, Hepatic stea... OMIM:617253
Congenital Myasthenic Syndrome
Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Sudden episodic apnea, Episodic... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Apneic episodes precipitated by illness, fatigue, stress, Ptosis, Sudden episodic apnea, Episodic... ORPHA:98914
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Growth delay, Exocrine ... ORPHA:699
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Conjunctivitis ORPHA:79241
Marshall-Smith Syndrome
Highly arched eyebrow, Failure to thrive, Apnea, Thick eyebrow, Decreased body weight, Shallow or... OMIM:602535
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Failure to thrive in infancy, Chronic hepatic failure, Diffuse hepatic steatosis ORPHA:746
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Obesity, Almond-shaped palpebral fissure, Delayed puberty, Central apnea, Shor... ORPHA:98754
Myotonia, Potassium-Aggravated
Apneic episodes in infancy OMIM:608390
Acquired Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Acute pancreatitis, Hepatic steatosis ORPHA:79086
Autosomal Recessive Malignant Osteopetrosis
Apnea, Splenomegaly, Abnormality of temperature regulation, Hepatomegaly, Growth delay ORPHA:667
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Growth delay, Failure to thrive, Xanthelasma, Hepatic steatosis, Increased hepatic glycogen conte... ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 68
Epicanthus, Intrauterine growth retardation, Ptosis, Hepatic steatosis OMIM:619934
Dilated Cardiomyopathy With Ataxia
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Growth ... ORPHA:66634
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Obesity, Almond-shaped palpebral fissure, Delayed puberty, Central apnea, Shor... ORPHA:98793
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Obesity, Almond-shaped palpebral fissure, Delayed puberty, Central apnea, Shor... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Obesity, Almond-shaped palpebral fissure, Delayed puberty, Central apnea, Shor... ORPHA:177901
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:14
Alternating Hemiplegia Of Childhood
Respiratory distress, Thin eyebrow, Apnea, Failure to thrive ORPHA:2131
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatic... OMIM:615356
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea OMIM:618291
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Autosomal Recessive Spastic Paraplegia Type 77
Ptosis, Sudden episodic apnea ORPHA:466722
Hyperekplexia 1
Apnea OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Failure to thrive OMIM:617527
Aromatase Deficiency
Obesity, Eunuchoid habitus, Hepatic steatosis, Growth delay ORPHA:91
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Fever, Cirrhosis, Jaundice, Fulminant hepatitis OMIM:215600
Plaa-Associated Neurodevelopmental Disorder
Apnea, Failure to thrive ORPHA:521426
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
Mosaic Variegated Aneuploidy Syndrome
Downslanted palpebral fissures, Intrauterine growth retardation, Apnea, Epicanthus, Short stature... ORPHA:1052
Joubert Syndrome 21
Dyspnea, Ptosis, Apnea, Splenomegaly OMIM:615636
Aicardi-Goutieres Syndrome 7
Hepatitis, Fever, Intrauterine growth retardation, Splenomegaly, Hepatic steatosis, Weight loss, ... OMIM:615846
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Decreased liver function OMIM:620423
Genitopatellar Syndrome
Short stature, Apnea ORPHA:85201
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Chylothorax OMIM:619036
Osteopathia Striata With Cranial Sclerosis
Short stature, Epicanthus, Apnea, Failure to thrive OMIM:300373
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Failure to thrive ORPHA:395
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Temperature instability, Apnea, Hypopnea, Hypoventilation OMIM:619482
Brachytelephalangic Chondrodysplasia Punctata
Postnatal growth retardation, Tachypnea, Central apnea, Proportionate short stature ORPHA:79345
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Failure to thrive in infanc... ORPHA:247598
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Obesity, Hypothermia, Hypoventilation, Abnormality of temperature regulation, Short stature OMIM:618493
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Horizontal eyebrow, Failure to thrive, Cholestasis, Hepatosplenomegaly, Apnea, Portal hypertensio... OMIM:619503
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Hepatic steatosis, Abdominal obesity ORPHA:189427
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Horizontal eyebrow, Almond-shaped palpebral fissure, Epicanthus, Central apnea, Abnormal location... ORPHA:522077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Intrauterine growth retardation, Hepatic steatosis, Abdominal obesity, Shor... OMIM:619321
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,... OMIM:618278
Campomelic Dysplasia
Neonatal short-limb short stature, Short palpebral fissure, Disproportionate short-limb short sta... OMIM:114290
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Obesity, Hepatic steatosis, Truncal obes... OMIM:203800
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Failure to thrive OMIM:608091
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Apnea, Hypopnea, Failure to thrive OMIM:618426
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent fever, Feve... OMIM:619475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hepatic calcification ORPHA:228308
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Postnatal growth reta... ORPHA:90321
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis ORPHA:280365
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea OMIM:618222
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Ci... OMIM:229600
Xp21 Deletion Syndrome
Apneic episodes in infancy, Growth delay ORPHA:261476
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Myasthenic Syndrome, Congenital, 21, Presynaptic
Ptosis, Apnea OMIM:617239
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99226
Congenital Tracheomalacia
Dyspnea, Apnea, Failure to thrive, Intercostal retractions ORPHA:95430
Wilson Disease
Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Stüve-Wiedemann Syndrome
Recurrent fever, Respiratory distress, Intrauterine growth retardation, Apnea, Short stature ORPHA:3206
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Failure ... OMIM:619525
Wolfram Syndrome
Abnormal mesentery morphology, Delayed puberty, Central apnea ORPHA:3463
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Orofaciodigital Syndrome Type 2
Short stature, Tachypnea, Apnea, Telecanthus ORPHA:2751
1P36 Deletion Syndrome
Annular pancreas, Failure to thrive, Horizontal eyebrow, Abnormality of the spleen, Abnormality o... ORPHA:1606
Deeah Syndrome
Short palpebral fissure, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Decr... OMIM:619004
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Growth delay, Failure to thrive, Intrauterine growth retardation, Hepa... OMIM:270400
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Elevated circulating hepatic transaminase concentration, Postnatal growth retarda... OMIM:619127
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos... OMIM:608594
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Upslanted palpebral fissure, Microvesicular hepatic steatosis, Cirrhos... OMIM:300868
Diethylstilbestrol Syndrome
Central apnea, Small for gestational age ORPHA:1916
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea OMIM:261740
Semilobar Holoprosencephaly
Temperature instability, Failure to thrive, Abnormal pattern of respiration, Central apnea, Short... ORPHA:220386
Alobar Holoprosencephaly
Temperature instability, Failure to thrive, Abnormal pattern of respiration, Central apnea, Short... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Temperature instability, Failure to thrive, Abnormal pattern of respiration, Central apnea, Short... ORPHA:93926
Lobar Holoprosencephaly
Temperature instability, Failure to thrive, Abnormal pattern of respiration, Central apnea, Short... ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Eversion of lateral third of lower eyelids, Apnea, Hypothermia, Almond-shaped palpebral fissure, ... ORPHA:438213
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos... OMIM:269700
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Highly arched eyebrow, Abnormality of temperature regulation OMIM:619173
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Apnea ORPHA:98889
Joubert Syndrome 5
Episodic tachypnea, Ptosis, Central apnea OMIM:610188
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation, Hepatitis ORPHA:1334
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Fever, Slender build, Intrauterine growth retardation, Hepatic steatosis, Upsl... ORPHA:3455
Bardet-Biedl Syndrome
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Downslanted palpebral ... ORPHA:110
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Failure to thrive, Microvesicular hepatic steatosis, Tachypnea, Small for ... OMIM:220111
Proteus Syndrome
Pulmonary cyst, Bronchogenic cyst, Thymus hyperplasia, Kyphosis, Abnormal lung lobation, Abnormal... ORPHA:744
Atypical Werner Syndrome
Failure to thrive, Hepatic steatosis, Decreased body weight, Delayed puberty, Aplasia/Hypoplasia ... ORPHA:79474
Digeorge Syndrome
Cholelithiasis, Short palpebral fissure, Obesity, Splenomegaly, Hepatic steatosis, Blepharophimos... OMIM:188400
Unilateral Polymicrogyria
Apnea ORPHA:268943
Hypermobile Ehlers-Danlos Syndrome
Ptosis, Epicanthus, Apnea, Keratoconjunctivitis sicca ORPHA:285
Ulnar-Mammary Syndrome
Short stature, Obesity, Delayed puberty, Abnormality of temperature regulation 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
Severe short stature, Failure to thrive, Heat intolerance, Thin eyebrow, Abnormal nasolacrimal sy... ORPHA:2273
Machado-Joseph Disease Type 3
Abnormality of temperature regulation ORPHA:276244
Pallister-Killian Syndrome
Rhizomelia, Sparse eyebrow, Obesity, Telecanthus, Mesomelic/rhizomelic limb shortening, Upslanted... OMIM:601803
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Respiratory distress, Apneic episodes in infancy, Exertional dyspnea, Hepatom... ORPHA:99125
Homozygous Familial Hypercholesterolemia
Dyspnea, Hepatic steatosis ORPHA:391665
Alström Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:64
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.

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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