Gene Summary

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

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
increased startle reflex Pkn2tm1b(KOMP)Wtsi HET Early adult 1.18×10-09
decreased circulating HDL cholesterol level Pkn2tm1b(KOMP)Wtsi HET Early adult 3.80×10-05
decreased circulating total protein level Pkn2tm1b(KOMP)Wtsi HET Early adult 7.40×10-06
increased circulating bilirubin level Pkn2tm1b(KOMP)Wtsi HET Early adult 6.78×10-06
decreased circulating unsaturated transferrin level Pkn2tm1b(KOMP)Wtsi HET Early adult 1.18×10-07
preweaning lethality, complete penetrance Pkn2tm1b(KOMP)Wtsi HOM   Early adult 5.66×10-06
decreased circulating cholesterol level Pkn2tm1b(KOMP)Wtsi HET Early adult 1.59×10-05
decreased exploration in new environment Pkn2tm1b(KOMP)Wtsi HET Early adult 3.63×10-11

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Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

28 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

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
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Crigler-Najjar Syndrome Type 1
Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia 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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Malaria
Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T... ORPHA:247585
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Hypocholesterolemia OMIM:610539
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... OMIM:603553
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia OMIM:608093
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder OMIM:301033
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Dystonia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Dengue Fever
Hypoproteinemia ORPHA:99828
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Irritability, Hyperbilirubinemia, Opisthotonus OMIM:619685
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Elevated c... OMIM:618156
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck OMIM:615583
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairment, Dyst... OMIM:616267
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck ORPHA:1131
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Omenn Syndrome
Hypoproteinemia OMIM:603554
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... OMIM:620211
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Dementi... ORPHA:167
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia, Depression ORPHA:69665
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
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
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Wildervanck Syndrome
Webbed neck, Meningocele, Low posterior hairline, Short neck ORPHA:3456
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr... ORPHA:79303
Hepatoportal Sclerosis
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Joubert Syndrome 15
Exencephaly OMIM:614464
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy OMIM:207950
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder ORPHA:73272
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Depression ORPHA:293939
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Humero-Radial Synostosis
Meningocele ORPHA:3265
Diaphanospondylodysostosis
Myelomeningocele, Short neck ORPHA:66637
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating ... ORPHA:90674
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Liver Disease, Severe Congenital
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... OMIM:619991
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Tremor, Hyperammonemia, Hyperproli... ORPHA:3008
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea OMIM:613812
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Tremor, Hand tremor, D... OMIM:277900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Meckel Syndrome, Type 2
Encephalocele, Cystic hygroma, Meningocele, Anencephaly OMIM:603194
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Congenital Disorder Of Glycosylation, Type Ia
Tremor, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia, Intention tremor OMIM:212065
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Bor Syndrome
Branchial cyst ORPHA:107
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Triploidy
Polyhydramnios, Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holop... ORPHA:3376
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neural tube defect, ... ORPHA:268810
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Graft Versus Host Disease
Irritability, Hyperbilirubinemia ORPHA:39812
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bi... ORPHA:2437
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Dehydration ORPHA:2260
Pierson Syndrome
Hypoproteinemia OMIM:609049
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Opisthotonus ORPHA:95232
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra... ORPHA:99776
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Autoimmune Hepatitis
Depression, Increased total bilirubin ORPHA:2137
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect ORPHA:261330
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Spina bifida ORPHA:1327
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Neurocutaneous Melanocytosis
Meningocele, Abnormality of neuronal migration ORPHA:2481
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Palpebral edema, Patent ductus arteriosus, Hydrocep... ORPHA:261337
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Neu-Laxova Syndrome 2
Polyhydramnios, Short neck, Spina bifida, Edema, Lissencephaly OMIM:616038
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Autosomal Recessive Spondylocostal Dysostosis
Short neck, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta ORPHA:2311
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Osteopetrosis, Autosomal Recessive 5
Irritability, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Hydroceph... OMIM:130720
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect OMIM:614424
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... ORPHA:2211
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... ORPHA:63259
Amish Lethal Microcephaly
Lissencephaly, Spina bifida ORPHA:99742
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Lateral Meningocele Syndrome
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia ORPHA:2789
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed neck, Hydranencephaly ORPHA:1393
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida o... OMIM:613686
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... ORPHA:845
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... ORPHA:90038
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short attention span, Torticollis, Isometric tremor, Head titubation, Depression, Irritability, D... OMIM:619475
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Short neck, Hydrocephalus, Webbed neck, Umbilical hernia, Broad neck, Oligohydramnios OMIM:613776
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Dubowitz Syndrome
Short attention span, Hypocholesterolemia OMIM:223370
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Short neck, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Oc... OMIM:616546
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Athetosis, Elevated circulating phytanic acid concentration, Incre... OMIM:614866
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... ORPHA:508488
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... OMIM:306955
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Steatorrhea OMIM:613471
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Polyhydramnios, Pachygyria, Abnormality of neuronal mig... ORPHA:2671
Neu-Laxova Syndrome 1
Broad neck, Ventricular septal defect, Spina bifida, Polyhydramnios, Short neck, Patent ductus ar... OMIM:256520
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, Steatorrhea OMIM:557000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Increased total bilirubin ORPHA:84081
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Abnormality of neuronal migrati... ORPHA:991
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Xanthelasma ORPHA:30391
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Stiff-Person Syndrome
Depression, Exaggerated startle response, Opisthotonus OMIM:184850
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Right ve... OMIM:620186
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response OMIM:616881
Ogden Syndrome
Irritability, Torticollis, Hyperbilirubinemia OMIM:300855
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Webbed neck, Atrial sept... ORPHA:3380
Trisomy 20P
Umbilical hernia, Low posterior hairline, Spina bifida, Short neck ORPHA:261318
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Short attention span OMIM:617864
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Polyhydramnios, Spina bifida ORPHA:3412
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Torticollis, Spina bifida OMIM:619480
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria OMIM:601707
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Hardikar Syndrome
Irritability, Hyperbilirubinemia OMIM:301068
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Tetralogy of Fallot, ... ORPHA:508498
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Orofaciodigital Syndrome Vi
Occipital meningocele, Periventricular nodular heterotopia, Polymicrogyria, Hypoplastic left heart OMIM:277170
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... OMIM:164210
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Ventricular septal defect, Spina bifida, Edema of the dorsum of hand... OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Decreased circulating cortisol level OMIM:620305
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis, Short neck ORPHA:2879
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Redundant neck skin, Occipital encephalocele, Meningocele ORPHA:397715
Leptospirosis
Hyperproteinemia ORPHA:509
Nail-Patella Syndrome
Spina bifida OMIM:161200
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Polyhydramnios, Sho... ORPHA:567
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia, Progressive neurologic deterioration OMIM:210710
Lathosterolosis
Meningocele ORPHA:46059
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Short neck, Hypoplastic left heart, Webbed neck, Aortic ... ORPHA:2308
Knobloch Syndrome 1
Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spina bifida occulta, P... OMIM:267750
Fanconi Anemia
Spina bifida, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Abnorm... ORPHA:84
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
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
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Branchiooculofacial Syndrome
Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Aicardi Syndrome
Gray matter heterotopia, Pachygyria, Polymicrogyria, Spina bifida OMIM:304050
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida OMIM:234100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Witteveen-Kolk Syndrome
Branchial fistula, Polyhydramnios, Bilateral polymicrogyria OMIM:613406
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... ORPHA:573278
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Mitral valve p... OMIM:180849
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Campomelic Dysplasia
Polyhydramnios, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism OMIM:114290
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Arima Syndrome
Gray matter heterotopia, Occipital meningocele OMIM:243910
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Abnormal heart morphology ORPHA:93924
Otopalatodigital Syndrome, Type Ii
Spina bifida, Short neck, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Broad neck, Short neck OMIM:276820
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder 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.

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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