Gene Summary

Name:
Rap guanine nucleotide exchange factor (GEF) 2
Synonyms:
Pdzgef1,  nRapGEP,  CNRasGEF,  RA-GEF-1,  5830453M24Rik

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 circulating bilirubin level Rapgef2em1(IMPC)H HET Early adult 3.69×10-06
decreased exploration in new environment Rapgef2em1(IMPC)H HET   Early adult 4.90×10-05
embryonic lethality prior to tooth bud stage Rapgef2em1(IMPC)H HOM   E12.5 0.00
preweaning lethality, complete penetrance Rapgef2em1(IMPC)H HOM   Early adult 0.00
abnormal retina morphology Rapgef2em1(IMPC)H HET Early adult 8.33×10-17

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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.

Phenotype associated images not available

Human diseases caused by Rapgef2 mutations

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

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

The table below shows human diseases associated to Rapgef2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Adult Myoclonic, 7
OMIM:618075

The table below shows human diseases predicted to be associated to Rapgef2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Malaria
Cognitive impairment, Elevated circulating C-reactive protein concentration, Retinopathy, Hyperbi... ORPHA:673
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Memory impairment, Neonatal hyperbilirubinemia ORPHA:79234
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Congenital Herpes Simplex Virus Infection
Premature birth, Hydranencephaly, Intrauterine growth retardation, Microcephaly ORPHA:293
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Placental Insufficiency
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Spontaneous abor... ORPHA:439167
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Schisis Association
Premature birth, Spina bifida, Anencephaly, Microcephaly ORPHA:63862
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Fetal akinesia sequence, Stillbirth, Polyhydramnios, Agenesis of corpus callosum OMIM:300073
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Intrauterine growth retardation, Abnormality of the diencephalon, Holoprosenceph... ORPHA:2570
Acalvaria
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus ORPHA:945
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Polyhydramnios, Hydrocephalus OMIM:617967
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia ... ORPHA:1908
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Intrauterine growth retardation, Anencephaly, Agenesis of... OMIM:611134
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation, Premature birth, Pol... OMIM:225790
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Cerebellar hypoplasia, Lissencephaly, Agen... ORPHA:1528
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Microcephaly OMIM:601355
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Intrauterine growth retardation, Anencephaly OMIM:603194
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Hepatic fibrosis, Esophagitis, Hepatic steatosis, Hepatosplenome... ORPHA:541423
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Absent septum pellucidum, Cerebellar hypoplasia, Lissenc... OMIM:218670
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Microcephaly, Severe intrauterine growth retardation, Intrauterine growth retardation, Small plac... ORPHA:73272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hy... OMIM:615287
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Nevus Comedonicus Syndrome
Spina bifida, Microcephaly, Spina bifida occulta ORPHA:64754
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Neonatal death, Stillbirth, Hypoplasia of the brainstem, Oligohydramnios, Cerebe... OMIM:236500
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Diprosopus
Anencephaly ORPHA:1681
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Agenesis of co... OMIM:207950
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Intrauterine growth retardation, Small placenta ORPHA:397590
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Distal Monosomy 13Q
Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly ORPHA:1590
Anencephaly 2
Anencephaly OMIM:619452
Amish Lethal Microcephaly
Decreased fetal movement, Cerebellar vermis hypoplasia, Spina bifida, Lissencephaly, Agenesis of ... ORPHA:99742
Hydrolethalus
Arrhinencephaly, Anencephaly, Premature birth, Absent septum pellucidum, Polyhydramnios, Hydrocep... ORPHA:2189
Caudal Duplication
Spinal cord lesion, Spina bifida, Myelomeningocele ORPHA:1756
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia OMIM:613673
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Iniencephaly
Dandy-Walker malformation, Myelomeningocele, Anencephaly, Holoprosencephaly, Syringomyelia, Lisse... ORPHA:63259
Neu-Laxova Syndrome 1
Short umbilical cord, Dandy-Walker malformation, Hydranencephaly, Intrauterine growth retardation... OMIM:256520
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Spina bifida, Po... ORPHA:1393
De Barsy Syndrome
Ventricular septal defect, High palate, Cutis laxa, Intrauterine growth retardation, Excessive wr... ORPHA:2962
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Meckel Syndrome, Type 1
Dandy-Walker malformation, Intrauterine growth retardation, Anencephaly, Asplenia, Patent ductus ... OMIM:249000
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Microhydranencephaly
Hydranencephaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corp... OMIM:605013
Meckel Syndrome, Type 10
Anencephaly OMIM:614175
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity OMIM:616278
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Atrial septal defect OMIM:619115
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration OMIM:601775
Retinal Detachment
Retinal detachment OMIM:180050
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Dermal translucency, Cutis laxa OMIM:614438
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Fontaine Progeroid Syndrome
Bicuspid aortic valve, High, narrow palate, Intrauterine growth retardation, Periventricular hete... OMIM:612289
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Intrauterine growth retardation, Fetal akinesia sequence, Premature birth, ... OMIM:208150
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation, Microcephaly ORPHA:1327
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency OMIM:619120
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Anencephaly, Amniotic constriction ring, Abnormality of t... ORPHA:2369
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, High palate, Bifid uvula, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:617506
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Hydranencephaly ORPHA:2839
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Hyperbilirubinemia ORPHA:713
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Trisomy 18
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia... ORPHA:3380
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Anencephaly, Patent ductus arteriosus, Agenesis of corpus callosum, Mi... OMIM:619148
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Vacterl With Hydrocephalus
Arrhinencephaly, Intrauterine growth retardation, Polyhydramnios, Single umbilical artery, Spina ... ORPHA:3412
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Cleft palate, Mitral valve prolapse, Bicuspid pulmonary valve, Bifid uvula... OMIM:609192
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Norrie Disease
Optic atrophy, Dementia, Retinal fold, Retinal dysplasia, Aggressive behavior, Retinal detachment OMIM:310600
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus ORPHA:1120
Vacterl/Vater Association
Intrauterine growth retardation, Anencephaly, Premature birth, Polyhydramnios, Single umbilical a... ORPHA:887
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dermal translucency, High palate, Mitral valve prolapse, Hydrocephalus ORPHA:536467
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Czeizel-Losonci Syndrome
Myelomeningocele, Thickened nuchal skin fold, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Neonatal death, Patent ductus ar... OMIM:269860
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Single umbilical artery, Hydrocephalus, Aplasia/Hypoplasia ... ORPHA:1926
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Restrictive Dermopathy
Short umbilical cord, Dextrocardia, Intrauterine growth retardation, Small placenta, Patent ductu... ORPHA:1662
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Meckel Syndrome, Type 5
Anencephaly OMIM:611561
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Cleft palate, Mitral valve prolapse, Bicuspid pulmonary valve, Bifid uvula... OMIM:610168
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Subependymal Nodular Heterotopia
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Polymicrogyria, Focal cor... ORPHA:101030
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:183802
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Autosomal Dominant Cutis Laxa
Redundant neck skin, Cutis laxa, Intrauterine growth retardation, Dermal translucency, Small bowe... ORPHA:90348
Mosaic Trisomy 9
Dandy-Walker malformation, Intrauterine growth retardation, Asplenia, Hydrops fetalis, Patent duc... ORPHA:99776
Microgastria-Limb Reduction Defects Association
Arrhinencephaly, Asplenia, Splenogonadal fusion, Polymicrogyria, Porencephalic cyst, Type I trunc... OMIM:156810
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Neu-Laxova Syndrome
Abnormal cortical gyration, Dandy-Walker malformation, Intrauterine growth retardation, Decreased... ORPHA:2671
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Polyhydramnios, Cerebellar vermis hypoplasia, Polymicrogyria, Hydrocephalus, Hydrops... OMIM:616546
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Humero-Radial Synostosis
Meningocele, Microcephaly ORPHA:3265
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Patent ductus arteriosus OMIM:313850
Muscle-Eye-Brain Disease
Meningocele, Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Hydrocephalus ORPHA:588
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Intrauterine growth retardation, Aqueductal stenosis ORPHA:1788
Bachmann-Bupp Syndrome
Aggressive behavior, Hyperbilirubinemia OMIM:619075
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Thoraco-Abdominal Enteric Duplication
Meningocele, Diastomatomyelia ORPHA:1759
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Distal Xq28 Microduplication Syndrome
Anxiety, Aggressive behavior, Self-biting, Neonatal hyperbilirubinemia ORPHA:293939
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia ORPHA:79303
Hepatoportal Sclerosis
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism, Splenomegaly OMIM:612918
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Intrauterine growth retardation, Congenital malformation ... ORPHA:3455
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
22Q11.2 Deletion Syndrome
Meningocele, Arrhinencephaly, Truncus arteriosus, Occipital myelomeningocele, Intrauterine growth... ORPHA:567
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Caudal Regression Sequence
Arrhinencephaly, Maternal diabetes ORPHA:3027
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... OMIM:616860
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Cleft palate, Mitral valve prolapse, High palate, Ventricular hypertrophy,... OMIM:613795
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Dandy-Walker malformation, Arrhinencephaly, Severe hydrocephalus, Ane... OMIM:236680
Pentalogy Of Cantrell
Anencephaly, Polysplenia, Hydrocephalus ORPHA:1335
Wildervanck Syndrome
Meningocele ORPHA:3456
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Fibromuscular Dysplasia, Multifocal
Dermal translucency, High palate, Hiatus hernia, Striae distensae OMIM:619329
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Mosaic Trisomy 16
Maternal diabetes, Preeclampsia, Intrauterine growth retardation, Premature birth, Patent ductus ... ORPHA:1708
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Apathy, ... ORPHA:3008
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia OMIM:607765
Meckel Syndrome
Dandy-Walker malformation, Lobar holoprosencephaly, Anencephaly, Asplenia, Accessory spleen, Olig... ORPHA:564
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism, Microcephaly OMIM:617660
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Ehlers-Danlos Syndrome, Vascular Type
Ecchymosis, Dermal translucency, Anemia, Mitral valve prolapse OMIM:130050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254528
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
49,Xxxxy Syndrome
Holoprosencephaly, Arrhinencephaly, Hypoplasia of the corpus callosum ORPHA:96264
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Spondylocostal Dysostosis 4, Autosomal Recessive
Spina bifida occulta, Myelomeningocele OMIM:613686
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Hypocholesterolemia... ORPHA:14
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Fibular Hemimelia
Thrombocytopenia, Spina bifida ORPHA:93323
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Neurocutaneous Melanocytosis
Meningocele, Aplasia/Hypoplasia of the cerebellum, Dandy-Walker malformation, Syringomyelia ORPHA:2481
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Multifocal cerebral white matter abnormalities, Arrhinencephaly, Dege... ORPHA:51
Triploidy
Meningocele, Intrauterine growth retardation, Holoprosencephaly, Polyhydramnios, Aplasia/Hypoplas... ORPHA:3376
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Anemia, Cavum septum pellucidum, Hepatosplenomegaly, Spina bifida, Cerebellar hypop... OMIM:274000
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Intrauterine growth retardation, Polyhydramnios, ... OMIM:222470
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Doors Syndrome
Dandy-Walker malformation, Thrombocytosis, Arrhinencephaly, Sirenomelia, Polyhydramnios, Thickene... ORPHA:79500
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Cavu... OMIM:304050
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Abnormality of the spleen, Arrhinencephaly, Truncus arteriosus, Absen... ORPHA:2538
Enlarged Parietal Foramina
Myelomeningocele, Encephalomalacia ORPHA:60015
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Syringomyelia, Hydrocepha... ORPHA:1136
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele ORPHA:1914
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia, Patent ductus arteriosus ORPHA:2092
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Patent ductus arteriosus, Dural ectasia, Umbilical hernia OMIM:130720
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Increased t... ORPHA:3202
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Fanconi Anemia
Intrauterine growth retardation, Leukopenia, Umbilical hernia, Anemia, Patent ductus arteriosus, ... ORPHA:84
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Patent ductus arteriosus, Spina bifida, Thin corpus call... OMIM:619480
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Intrauterine growth retardation, Spina bifida occulta, Umbilical hernia, Microcephaly ORPHA:2311
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Optic nerve hypoplasia, Spina bifida, Periventricular leukomalacia, Hypoplasi... ORPHA:508498
Posterior Meningocele
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... ORPHA:268810
Kagami-Ogata Syndrome
Premature birth, Large placenta, Polyhydramnios ORPHA:254519
Pallister-Hall Syndrome
Abnormal prolactin level, Arrhinencephaly, Adrenocorticotropic hormone deficiency, Intrauterine g... ORPHA:672
Graft Versus Host Disease
Irritability, Hyperbilirubinemia ORPHA:39812
Autoimmune Hepatitis
Anxiety, Increased total bilirubin ORPHA:2137
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma free carnitine, Elevated circulating long chain fatty acid concentration, Increa... OMIM:608836
Jacobsen Syndrome
Intrauterine growth retardation, Premature birth, Pachygyria, Spina bifida, Cerebral atrophy, Thr... ORPHA:2308
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Fryns Syndrome
Dandy-Walker malformation, Arrhinencephaly, Hypoplasia of olfactory tract, Stillbirth, Polyhydram... OMIM:229850
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Nail-Patella Syndrome
Spina bifida OMIM:161200
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormal intestine morphology, Mitral valve prolapse, Excessive wrinkled ski... ORPHA:286
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Pagod Syndrome
Meningocele, Abnormality of the spleen, Spina bifida, Microcephaly ORPHA:991
Restrictive Dermopathy 1
Short umbilical cord, Premature rupture of membranes, Intrauterine growth retardation, Premature ... OMIM:275210
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus, Calcification of falx cerebri OMIM:109400
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Hallermann-Streiff Syndrome
Spina bifida, Microcephaly OMIM:234100
Lathosterolosis
Meningocele, Anisopoikilocytosis, Intrauterine growth retardation, Abnormal platelet morphology, ... ORPHA:46059
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Dural ectasia, Umbilical hernia ORPHA:2789
Charge Syndrome
Arrhinencephaly, Holoprosencephaly, Patent ductus arteriosus, Polyhydramnios, Gonadotropin defici... OMIM:214800
Acromelic Frontonasal Dysplasia
Meningocele, Hypoplasia of the olfactory bulb, Anterior pituitary hypoplasia, Hypopituitarism, Ag... ORPHA:1827
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Vitreous hemorrhage, Hyperbilirubinemia, Retinal hemorrhage ORPHA:464321
Holoprosencephaly
Dandy-Walker malformation, Abnormality of the spleen, Holoprosencephaly, Branchial anomaly, Aplas... ORPHA:2162
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Arrhinencephaly, Polyhydramnios, Primary microcephaly, Pachygyri... ORPHA:3472
Vater/Vacterl Association
Patent urachus, Intrauterine growth retardation, Patent ductus arteriosus, Single umbilical arter... OMIM:192350
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Ring Chromosome 13 Syndrome
Agenesis of corpus callosum, Anencephaly, Microcephaly ORPHA:96176
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypoalbuminemia ORPHA:88673
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Koolen-De Vries Syndrome Due To A Point Mutation
Pineal cyst, Dural ectasia, Fetal pyelectasis, Spina bifida, Hydrocephalus, Decreased response to... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pineal cyst, Dural ectasia, Fetal pyelectasis, Spina bifida, Hydrocephalus, Decreased response to... ORPHA:363958
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Dandy-Walker malformation, Colpocephaly, Abnormal corpus ca... ORPHA:397715
Phaver Syndrome
Intrauterine growth retardation, Myelomeningocele ORPHA:2876
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Premature birth, Spontaneous abortion, Lissencephaly, Polyhydram... ORPHA:96334
Senior-Boichis Syndrome
Suicidal ideation, Aggressive behavior, Increased total bilirubin ORPHA:84081
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Myelomeningocele, Microcephaly ORPHA:94065
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Chorioretinal coloboma, Suicidal ideation, Cognitive impairment, Aggressive beh... OMIM:619475
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia OMIM:229600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia ORPHA:567983
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Microphthalmia With Limb Anomalies
Arrhinencephaly, Hydrocephalus ORPHA:1106
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Polycythemia, Premature birth, Polyhydramnios, Splenomegaly, Large plac... ORPHA:116
Cartilage-Hair Hypoplasia
Anemia, Spinal dysraphism, Neutropenia ORPHA:175
Lathosterolosis
Hyperbilirubinemia, Abnormal circulating cholesterol concentration OMIM:607330
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Split Cord Malformation
Meningocele, Hydromyelia, Myelomeningocele, Syringomyelia, Hydrocephalus, Cervical spina bifida, ... ORPHA:573278
Sacral Defect With Anterior Meningocele
Meningocele OMIM:600145
X-Linked Intellectual Disability, Nascimento Type
Aggressive behavior, Neonatal hyperbilirubinemia ORPHA:163956
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Trisomy 8Q
Myelomeningocele ORPHA:1752
Hardikar Syndrome
Irritability, Hyperbilirubinemia, Pigmentary retinopathy OMIM:301068
Yunis-Varon Syndrome
Hypoplasia of the frontal lobes, Arrhinencephaly, Intrauterine growth retardation, Premature birt... OMIM:216340
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Orofaciodigital Syndrome I
Abnormal cortical gyration, Myelomeningocele, Hypothalamic hamartoma, Porencephalic cyst, Hydroce... OMIM:311200
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Microcephaly ORPHA:322
Joubert Syndrome 1
Occipital myelomeningocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hypoplas... OMIM:213300
Arima Syndrome
Occipital meningocele, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the cerebellar vermis, ... OMIM:243910
Phocomelia, Schinzel Type
Meningocele, Intrauterine growth retardation, Hydrops fetalis ORPHA:2879
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele, Digital constriction ring ORPHA:1010
Non-Syndromic Anorectal Malformation
Tethered cord, Syringomyelia, Myelomeningocele ORPHA:557
Otopalatodigital Syndrome Type 2
Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia ORPHA:90652
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Increased erythrocyte protoporphyrin concentration, Unconjugated hyper... ORPHA:79277
Congenital Disorder Of Glycosylation, Type Iim
Rod-cone dystrophy, Neonatal hyperbilirubinemia OMIM:300896
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decrea... ORPHA:447
Marfan Syndrome
Meningocele, Dural ectasia ORPHA:558
Oeis Complex
Tethered cord, Hydrocephalus, Myelomeningocele OMIM:258040
Focal Dermal Hypoplasia
Agenesis of corpus callosum, Myelomeningocele, Hydrocephalus, Spina bifida occulta, Umbilical her... OMIM:305600
Fraser Syndrome 1
Abnormal cortical gyration, Hydrocephalus, Myelomeningocele, Microcephaly OMIM:219000
Fraser Syndrome
Microcephaly, Umbilical hernia, Myelomeningocele ORPHA:2052
Tibial Hemimelia
Myelomeningocele ORPHA:93322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Epilepsy, Familial Adult Myoclonic, 7
OMIM:618075

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 Rapgef2

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 Rapgef2.

No publications found that use IMPC mice or data for Rapgef2.

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MGI Allele Allele Type Produced
Rapgef2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rapgef2em1(IMPC)H Exon Deletion Mice
Rapgef2em2(IMPC)H Exon Deletion Mice
Rapgef2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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