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Gene: Pkn2 MGI:109211

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Gene Summary

Name:
protein kinase N2
Synonyms:
Prkcl2,  PRK2,  6030436C20Rik,  Stk7

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
decreased circulating unsaturated transferrin level Pkn2tm1b(KOMP)Wtsi HET Early adult 1.18×10-07
decreased exploration in new environment Pkn2tm1b(KOMP)Wtsi HET Early adult 3.94×10-11
decreased circulating total protein level Pkn2tm1b(KOMP)Wtsi HET Early adult 7.40×10-06
decreased circulating HDL cholesterol level Pkn2tm1b(KOMP)Wtsi HET Early adult 3.80×10-05
decreased circulating cholesterol level Pkn2tm1b(KOMP)Wtsi HET Early adult 1.59×10-05
preweaning lethality, complete penetrance Pkn2tm1b(KOMP)Wtsi HOM   Early adult 5.66×10-06
increased circulating bilirubin level Pkn2tm1b(KOMP)Wtsi HET Early adult 6.78×10-06
increased startle reflex Pkn2tm1b(KOMP)Wtsi HET Early adult 1.18×10-09

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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.

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Electrocardiogram (ECG)

Waveform Image

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Pkn2 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pkn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Memory impairment, Tremor ORPHA:79234
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Cognitive impairment ORPHA:673
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Neural tube defect OMIM:615041
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hyperlipi... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor OMIM:610539
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Irritab... OMIM:603553
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Dystonia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration, Irritability OMIM:619685
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Dengue Fever
Hypoproteinemia ORPHA:99828
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Squalene Synthase Deficiency
Hypocholesterolemia, Irritability, Decreased LDL cholesterol concentration, Elevated circulating ... OMIM:618156
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hyperbilirubinemia... OMIM:613280
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Verheij Syndrome
Truncus arteriosus, Short neck, Branchial cyst, Ventricular septal defect OMIM:615583
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Depression, Tremor, Increased serum bile acid concentration ORPHA:69665
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Subependymal Nodular Heterotopia
Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Nas... ORPHA:101030
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
X-Linked Mandibulofacial Dysostosis
Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology ORPHA:1131
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Irritability OMIM:613070
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Omenn Syndrome
Hypoproteinemia OMIM:603554
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia OMIM:235555
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Tremor, Hyponatremia, Cognitive impairment, Hypertr... ORPHA:167
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Low posterior hairline, Ventricular septal defect, ... ORPHA:2345
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Dystonia, Elevated circulating alpha... OMIM:616267
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Wildervanck Syndrome
Low posterior hairline, Webbed neck, Short neck, Meningocele ORPHA:3456
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentr... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Cognitive impairment ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Maternal Uniparental Disomy Of Chromosome 4
Depression, Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase conce... ORPHA:96180
Joubert Syndrome 15
Exencephaly OMIM:614464
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia, Short attention span ORPHA:73272
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Gray matter heterotopia OMIM:207950
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Branchia... ORPHA:453499
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Depression, Neonatal hyperbilirubinemia ORPHA:293939
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Meningocele, Anenc... OMIM:611134
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent... ORPHA:90674
Humero-Radial Synostosis
Meningocele ORPHA:3265
Diaphanospondylodysostosis
Myelomeningocele, Short neck ORPHA:66637
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... ORPHA:3008
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, Irritability ORPHA:348
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Short attention span, Hypocalce... OMIM:619991
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Intellectual Developmental Disorder, Autosomal Dominant 72
Short neck, Spina bifida OMIM:620439
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hyperbilirubinemia OMIM:613812
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Meckel Syndrome, Type 2
Cystic hygroma, Meningocele, Anencephaly, Encephalocele OMIM:603194
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Tremor, Steatorrhea, Intention tremor OMIM:212065
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Bor Syndrome
Branchial cyst ORPHA:107
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... ORPHA:2162
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Triploidy
Short neck, Hydrocephalus, Abnormal cardiac septum morphology, Polyhydramnios, Meningocele, Holop... ORPHA:3376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Graft Versus Host Disease
Hyperbilirubinemia, Irritability ORPHA:39812
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Thickened nuchal skin fold, Dextrocardia, Spina bi... ORPHA:2437
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Dehydration ORPHA:2260
Pierson Syndrome
Hypoproteinemia OMIM:609049
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Autoimmune Hepatitis
Depression, Increased total bilirubin ORPHA:2137
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Isolated Posterior Meningocele
Hydromyelia, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipit... ORPHA:268810
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv... ORPHA:261337
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Branchial fistula, Atrial septal defect, Ventricular septal defect ORPHA:261330
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Mosaic Trisomy 9
Webbed neck, Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydramnios, Ventri... ORPHA:99776
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hand tremor, Hyperbilirubinemia, Limb dystonia, Increased circulat... OMIM:277900
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Spina bifida ORPHA:1327
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Meningocele ORPHA:2481
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Neu-Laxova Syndrome 2
Lissencephaly, Short neck, Spina bifida, Polyhydramnios, Edema OMIM:616038
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Short neck, Spina bifida occulta, Meningocele, Anomalous pulmonary venous return ORPHA:2311
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia, Irritability OMIM:259720
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Cognitive impairment, Exaggerated startle response ORPHA:309246
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Amish Lethal Microcephaly
Spina bifida, Lissencephaly ORPHA:99742
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Short neck, Hydrocephalus, Me... OMIM:130720
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele ORPHA:60015
Joubert Syndrome 14
Hydrocephalus, Meningocele, Encephalocele, Ventricular septal defect OMIM:614424
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Iniencephaly
Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Polyhydramnios, ... ORPHA:63259
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... OMIM:608643
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... ORPHA:90038
Spondylocostal Dysostosis 4, Autosomal Recessive
Broad neck, Myelomeningocele, Situs inversus totalis, Short neck, Hydrocephalus, Dextrocardia, Sp... OMIM:613686
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Low posterior hairline, Short neck, Meningocele ORPHA:2789
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Myelomeningocele, Ventricular septal defect, Spina bifida, Meningocele ORPHA:1393
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Memory impairment, Depression, Laryngeal dystonia, Short att... ORPHA:845
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Depression, Hyperbilirubinemia, Short attention span, Emotional lability, Irritability, Diminishe... OMIM:619475
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Chromosome 17P13.1 Deletion Syndrome
Webbed neck, Broad neck, Umbilical hernia, Oligohydramnios, Short neck, Spina bifida, Hydrocephalus OMIM:613776
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Hypocholesterolemia, Short attention span OMIM:223370
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Occipital meningocele, Short neck, Hydrocephalus, Atrial septal defect, Polyhydra... OMIM:616546
8Q24.3 Microdeletion Syndrome
Branchial cyst, Abnormal heart morphology, Atrioventricular canal defect, Oligohydramnios, Comple... ORPHA:508488
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia, Irritability OMIM:618278
Reynolds Syndrome
Steatorrhea, Hyperbilirubinemia, Calcinosis OMIM:613471
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Increased total bilirubin ORPHA:84081
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Neu-Laxova Syndrome 1
Broad neck, Hydranencephaly, Generalized edema, Small placenta, Short umbilical cord, Patent fora... OMIM:256520
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hyperbilirubinemia OMIM:557000
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Pachygyria, Abnormality of neuronal migration, Spina ... ORPHA:2671
Stiff-Person Syndrome
Opisthotonus, Depression, Exaggerated startle response OMIM:184850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Abnormality of neuronal migration,... ORPHA:991
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Patent foramen ovale, Atrial septal defect, Polyhydramnios, Right ve... OMIM:620186
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Irritability, Exaggerated startle response, Dystonia, Hypernatremia OMIM:620423
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Irritability OMIM:616881
Ogden Syndrome
Hyperbilirubinemia, Torticollis, Irritability OMIM:300855
Focal Dermal Hypoplasia
Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Pa... ORPHA:2092
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Irritability OMIM:617864
Trisomy 20P
Low posterior hairline, Short neck, Spina bifida, Umbilical hernia ORPHA:261318
Trisomy 18
Webbed neck, Oligohydramnios, Ventricular septal defect, Spina bifida, Atrial septal defect, Holo... ORPHA:3380
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response, Irritability OMIM:615574
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Polyhydramnios, Spina bifida ORPHA:3412
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria OMIM:601707
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida, Torticollis OMIM:619480
Hardikar Syndrome
Hyperbilirubinemia, Irritability OMIM:301068
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus... ORPHA:508498
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration OMIM:270400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia OMIM:620305
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Periventricular nodular heterotopia, Occipital meningocele, Polymicrogyria OMIM:277170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... OMIM:192350
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele, Redundant neck skin ORPHA:397715
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu... OMIM:274000
Phocomelia, Schinzel Type
Short neck, Hydrops fetalis, Meningocele ORPHA:2879
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Leptospirosis
Hyperproteinemia ORPHA:509
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Nail-Patella Syndrome
Spina bifida OMIM:161200
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia OMIM:620376
Lathosterolosis
Meningocele ORPHA:46059
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Progressive neurologic deterioration, Hyperbilirubinemia OMIM:210710
Knobloch Syndrome 1
Occipital encephalocele, Polymicrogyria, Spina bifida occulta, Occipital meningocele, Patent duct... OMIM:267750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Jacobsen Syndrome
Aortic valve stenosis, Webbed neck, Hypoplastic left heart, Ventricular septal defect, Short neck... ORPHA:2308
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Oligohydramnios, Abnormal aor... ORPHA:84
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
22Q11.2 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal aortic valve... ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida OMIM:234100
Branchiooculofacial Syndrome
Low posterior hairline, Short neck, Branchial anomaly OMIM:113620
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Witteveen-Kolk Syndrome
Polyhydramnios, Bilateral polymicrogyria, Branchial fistula OMIM:613406
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Spina bifida, Polymicrogyria OMIM:304050
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Patent ductus arterio... OMIM:134780
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline,... OMIM:180849
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hydr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hydr... ORPHA:363958
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Campomelic Dysplasia
Spinal dysraphism, Abnormal heart morphology, Hydrocephalus, Spina bifida, Polyhydramnios OMIM:114290
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Cutis Laxa, Autosomal Recessive, Type Ib
Oligohydramnios, Right ventricular dilatation, Spina bifida, Neonatal death OMIM:614437
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Marfan Syndrome
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Semilobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Neural tube defect ORPHA:93924
Otopalatodigital Syndrome, Type Ii
Stillbirth, Umbilical hernia, Short neck, Hydrocephalus, Spina bifida, Atrial septal defect OMIM:304120
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Short neck, Hydrocephalus, Holoprosencephal... OMIM:610829
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Irritability OMIM:618367
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Dystonia, Exaggerated startle response ORPHA:438213
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Broad neck, Short neck, Occipital meningocele OMIM:276820
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522

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 Pkn2

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 Pkn2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PKN2 deficiency leads both to prenatal 'congenital' cardiomyopathy and defective angiotensin II stress responses. The Biochemical journal (July 2022) Pkn2tm1c(KOMP)Wtsi PMC9342899
Disruption of pancreatic stellate cell myofibroblast phenotype promotes pancreatic tumor invasion. Cell reports (January 2022) Pkn2tm1a(KOMP)Wtsi PMC8810397
Protein Kinase N Promotes Stress-Induced Cardiac Dysfunction Through Phosphorylation of Myocardin-Related Transcription Factor A and Disruption of Its Interaction With Actin. Circulation (September 2019) Pkn2tm1a(KOMP)Wtsi 31564129
The protein kinase C super-family member PKN is regulated by mTOR and influences differentiation during prostate cancer progression. The Prostate (September 2017) Pkn2tm1a(KOMP)Wtsi Pkn2tm1b(KOMP)Wtsi 28875501
Knockout of the PKN Family of Rho Effector Kinases Reveals a Non-redundant Role for PKN2 in Developmental Mesoderm Expansion. Cell reports (January 2016) Pkn2tm1a(KOMP)Wtsi PMC4733087

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pkn2tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pkn2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pkn2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pkn2tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pkn2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pkn2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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