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Gene: Crk MGI:88508

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
v-crk avian sarcoma virus CT10 oncogene homolog
Synonyms:
Crk-I,  Crk-III,  Crk-II,  proto-oncogene c-crk,  Crko

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Crk 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 Crk by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Peripartum Cardiomyopathy
Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn... ORPHA:563
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Infantile Sialic Acid Storage Disease
Premature birth, Anteverted nares, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Gingi... OMIM:269920
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Fetal Gaucher Disease
Decreased fetal movement, Death in infancy, Anteverted nares, Depressed nasal bridge, Fetal akine... ORPHA:85212
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Death in infancy, Tricuspid regurgitation, Hydrops fetalis, Pulmonic ste... OMIM:619433
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, Anteverted nares... OMIM:612863
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Depressed ... OMIM:601927
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Pai Syndrome
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Mulibrey Nanism
Wide nose, Dental crowding, Depressed nasal bridge, Cardiomegaly, Congestive heart failure, Denta... OMIM:253250
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Death in infancy, Fetal akinesia sequence, Dilated cardiomyopathy, Flexion contracture, Hydrops f... OMIM:618815
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Nonimmune hydrops fetalis, Flexion contracture, Cardiomyopathy, Thin vermilion ... OMIM:608540
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Median cleft lip, High palate, Bifid uvula OMIM:155145
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Duodenal atresia, Single umbilical ar... ORPHA:3405
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Coarctation of aorta, Atrial s... ORPHA:101028
Chondrodysplasia, Blomstrand Type
Premature birth, Depressed nasal bridge, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbir... OMIM:215045
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent outer dy... OMIM:616037
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... ORPHA:1041
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Lipoid Proteinosis
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... ORPHA:530
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Glycogen Storage Disease Iv
Decreased fetal movement, Skeletal muscle atrophy, Polyhydramnios, Edema, Portal hypertension, Es... OMIM:232500
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Rhinit... OMIM:615444
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Anteverted nares, Polyhydramnios, Cardiomegaly, Flexion contracture, H... OMIM:616897
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Nasal polyposis, Dextrocardia, Absent inner and outer dynein arms OMIM:606763
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Situs inversus totalis, Absent inner and outer dynein arms, Rhinitis, Recurrent ... OMIM:614935
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal ... ORPHA:183
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Centrally nuclea... OMIM:255320
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Nasal polyposis, Chronic rhinitis OMIM:617092
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Nasal polyposis, Recurrent sinusitis OMIM:620197
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, ... OMIM:617022
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Alg9-Cdg
Villous atrophy, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow... ORPHA:79328
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Edema, Pulmonary embolism, Congestive heart failure, Hydrops fetalis... ORPHA:90308
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:608647
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Nasal polyposis, Sit... ORPHA:244
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the nose, Nasal polyposis, Abnor... ORPHA:2869
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscl... ORPHA:369840
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Achondrogenesis
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Hydrops fetalis, Long philtrum, Sho... ORPHA:932
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Lymphatic Malformation 13
Atrial septal defect, Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Fetal perica... OMIM:620244
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Trisomy 1Q
Wide nose, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Congenital diaphrag... ORPHA:261344
Achondrogenesis Type 1B
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Hydrops fetalis, Long philtrum, Sho... ORPHA:93298
Developmental And Epileptic Encephalopathy 96
Death in infancy, Hydrops fetalis OMIM:619340
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular... ORPHA:70591
Neuraminidase Deficiency
Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Hydrops fetalis, Car... OMIM:256550
Gm1-Gangliosidosis, Type I
Death in infancy, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopat... OMIM:230500
Achondrogenesis Type 1A
Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Hydrops fetalis, Long philtrum, Sho... ORPHA:93299
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Port... ORPHA:367
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Broad nasal t... OMIM:615524
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth OMIM:600972
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios ORPHA:163596
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis OMIM:618695
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Narrow mouth, Flexion contracture, Hydrops fetalis, Cleft palate, Abnormal heart mor... ORPHA:1865
Immunodeficiency 13
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections OMIM:615518
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardi... OMIM:620167
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Depressed nasal bridge, Submucous... ORPHA:3426
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Situs inversus totalis, Absent outer dynein arms, Anosmia, Chronic rhinitis OMIM:244400
Fibrochondrogenesis 1
Anteverted nares, Depressed nasal bridge, Hydrops fetalis, Cleft palate, Stillbirth, Narrow mouth... OMIM:228520
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... OMIM:617021
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Anteverted nares, Underdeveloped nasal alae, High, nar... OMIM:619941
Cardiac Valvular Dysplasia 1
Edema, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tri... OMIM:212093
Gm1 Gangliosidosis
Ventricular septal defect, Premature birth, Depressed nasal bridge, Broad nasal tip, Camptodactyl... ORPHA:354
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Atrial septal defect, Neonatal dea... OMIM:265380
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardio... OMIM:618835
Bare Lymphocyte Syndrome, Type I
Nasal polyposis OMIM:604571
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, H... ORPHA:3378
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Cleft soft palate, Anteverted nares, Abnormality of the dentition, Broad n... OMIM:618529
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Everted upper lip vermilion, Premature birth, Nonimmune hydrops fetalis... OMIM:608013
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Secundum atrial septal defect, Increased nuchal tran... OMIM:620183
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Hydrops fetalis, Myopathy, Abno... OMIM:609015
Achondrogenesis, Type Ii
Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Long philtrum OMIM:200610
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... ORPHA:292
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Polyhydramnios, Abnormal heart valve morphology, Intesti... ORPHA:99776
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... ORPHA:2712
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... OMIM:235510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios ORPHA:2204
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Polyhydramnios, Flexion contracture, High palate, Sh... OMIM:620369
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Orofaciodigital Syndrome Xix
Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Carious ... OMIM:620107
Peutz-Jeghers Syndrome
Nasal polyposis, Rectal prolapse, Multiple gastric polyps, Oral melanotic macule, Hamartomatous p... OMIM:175200
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Depressed nasal bridge, Hydrops fetalis, Polyhydramnios ORPHA:85166
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Oral ulcer, Conc... OMIM:608710
Coffin-Siris Syndrome 11
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... OMIM:618779
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, Right ventricular di... OMIM:619472
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hydrops fe... ORPHA:268249
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protruding to... OMIM:200600
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, ... OMIM:615582
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Epistaxis, Lymphedema, Abnormality of the musculature of the limbs, Hi... ORPHA:137667
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Prominent nasal bridge, Lymphedema, Long nose, Wide n... OMIM:137940
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Burn-Mckeown Syndrome
Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Underdevelop... OMIM:608572
Mgat2-Cdg
Ventricular septal defect, Dental crowding, Hydrops fetalis, Abnormal heart morphology, Recurrent... ORPHA:79329
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Polyhydramnios ORPHA:1263
Diffuse Neonatal Hemangiomatosis
Ascites, Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:2123
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... OMIM:153400
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Depressed nasal ... OMIM:265300
Gm1 Gangliosidosis Type 1
Depressed nasal bridge, Broad nasal tip, Hydrops fetalis, Gingival overgrowth, Macroglossia, Card... ORPHA:79255
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Short nose OMIM:269250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Flexion contracture, Hydrops fetalis, Knee flexion contracture, Downturned corner... OMIM:300868
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, High, narrow p... OMIM:208150
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Depressed... ORPHA:2136
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Hydrops fetalis, Cleft palate, Agenesis of permanent teeth, ... OMIM:614091
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Hamartoma of tongue, Polyhydramnios, Accessory oral frenulum, Congenital ... OMIM:616546
Cystic Fibrosis
Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Dehydration, Steatorrhea OMIM:219700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate OMIM:616738
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Macroglossia, Camptodactyly, Ascites, Oligohydramnios ORPHA:79325
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Short philtrum, Prominent n... ORPHA:293725
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Recurrent upper respiratory tract infections, F... OMIM:253220
Campomelia, Cumming Type
Death in infancy, Lymphedema, Hydrops fetalis, Cleft palate, Abnormal intestine morphology, Oligo... ORPHA:1318
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis, Muscular dystrophy, Abnormality of the dentition ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Pericarditis, Villous atrophy, Thin upper lip vermilion, Nonimmune hydrops feta... OMIM:212065
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... OMIM:608670
Free Sialic Acid Storage Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Ascites, Hydrops fetalis ORPHA:834
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis, Congestive heart failure, Pulmonary insufficiency, Co... OMIM:166210
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Anteverted nares, Abnormality of th... OMIM:616331
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Blomstrand Lethal Chondrodysplasia
Natal tooth, Premature birth, Anteverted nares, Polyhydramnios, Protruding tongue, Depressed nasa... ORPHA:50945
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Esophageal atresia, Atrial septal defect, Smooth philtrum OMIM:614526
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... OMIM:192445
Velocardiofacial Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cle... OMIM:192430
Cranioectodermal Dysplasia 2
Depressed nasal bridge, Polyhydramnios, Hydrops fetalis, Cleft palate, Wide nasal bridge, Broad p... OMIM:613610
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Left-to-right shunt, Abnormality of the dentition, Carious teeth, Long nose, Mus... ORPHA:363444
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Facial palsy, High, narrow palate, Submucous cleft hard palate, Wide n... ORPHA:2780
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, ... OMIM:263520
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Wide nose, Nonimmune hydrops fetalis, Stillbirth, Ascit... OMIM:617667
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormality of the sen... ORPHA:3201
Yunis-Varon Syndrome
Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad secondary alveolar ridg... ORPHA:3472
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Facial palsy, Abnormal parotid gland morphology, Abnormal ... ORPHA:252164
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis, Cleft palate OMIM:618265
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormality of t... OMIM:607823
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Depressed nasal bridge, Bulbous nose, Submucous cleft hard palate, Thi... OMIM:619103
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness ... OMIM:265000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Ab... ORPHA:79282
Sarcoidosis
Abnormal cardiac ventricular function, Abnormal nasal mucosa morphology, Facial palsy, Portal hyp... ORPHA:797
Rhizomelic Chondrodysplasia Punctata, Type 2
Depressed nasal bridge, Anteverted nares, Submucous cleft hard palate, Flexion contracture, Wide ... OMIM:222765
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Diamond-Blackfan Anemia
Ventricular septal defect, Nonimmune hydrops fetalis, Cleft soft palate, Depressed nasal bridge, ... ORPHA:124
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Knee flexion contracture, Broad nasal tip ORPHA:166016
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital muscular torticollis, Ventricular septal defect, Bicuspid ao... ORPHA:457279
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, Underdeveloped nasal al... ORPHA:250999
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Su... OMIM:300967
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... OMIM:617412
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula OMIM:601492
Farber Disease
Skeletal muscle atrophy, CNS foam cells, Recurrent upper respiratory tract infections, Flexion co... ORPHA:333
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Facial hypotonia, Protruding tongue, Broad nasal tip, Submucous cleft hard palat... OMIM:618106
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... ORPHA:1071
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Hydrolethalus
Premature birth, Polyhydramnios, Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnor... ORPHA:2189
Greenberg Dysplasia
Depressed nasal bridge, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large p... OMIM:215140
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... ORPHA:884
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental maloccl... OMIM:613680
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Polyhydramnios, Edema, Cardiomegaly, Medial calcification... ORPHA:51608
Stickler Syndrome, Type I
Anteverted nares, Depressed nasal bridge, Pierre-Robin sequence, Submucous cleft hard palate, Cle... OMIM:108300
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect,... OMIM:617660
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cerebrocostomandibular Syndrome
Anal stenosis, Ventricular septal defect, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft... OMIM:117650
W Syndrome
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... ORPHA:2804
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the dentition, Submucous cleft hard palate, Depressed nas... ORPHA:178303
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Depressed nasal bridge, Pol... OMIM:300990
Phocomelia, Schinzel Type
High, narrow palate, Tracheoesophageal fistula, Hydrops fetalis, Cleft palate, Short nose, Anal a... ORPHA:2879
Amish Lethal Microcephaly
Decreased fetal movement, Limb hypertonia, Cleft soft palate, Death in infancy ORPHA:99742
Schilbach-Rott Syndrome
Prominent nose, Long nose, Submucous cleft hard palate, Narrow mouth, Bifid uvula OMIM:164220
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle... OMIM:619227
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Cardiofaciocutaneous Syndrome 1
Premature birth, Anteverted nares, Polyhydramnios, Abnormality of the dentition, Open bite, Depre... OMIM:115150
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Atrial septal defect, Bif... OMIM:619314
Gaucher Disease
Death in infancy, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardi... ORPHA:355
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Fetal ascites, Prominent nose, Ascending aorta hypoplasia, Deep philtrum, Flexio... OMIM:619503
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee f... OMIM:114300
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Atrial septal defect, Premature ... OMIM:275210
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, ... OMIM:619950
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal... OMIM:154500
Cystic Fibrosis
Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Steatorrhea ORPHA:586
Cardiofaciocutaneous Syndrome
Premature birth, Abnormal heart valve morphology, Anteverted nares, Lymphedema, Depressed nasal b... ORPHA:1340
Pearson Syndrome
Cardiac conduction abnormality, Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal ... ORPHA:699
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Anteverted nares, Submucous cleft hard palate, Unilateral cleft lip, Unilateral... OMIM:619122
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Wide nasal bridge, Submucous cleft soft palate, Pulmonary ar... ORPHA:2282
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Hardikar Syndrome
Ventricular septal defect, Cleft soft palate, Portal hypertension, Intestinal malrotation, Hemate... OMIM:301068
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Decreased fetal movement, Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Po... OMIM:614557
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Submucous cleft hard palate, Cleft palate, Hypoplast... OMIM:301043
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Broad nasal tip, Submucous cleft h... OMIM:619680
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis OMIM:256540
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft ... ORPHA:268261
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Prominent nose, Long nose, Bu... ORPHA:3047
Microphthalmia, Syndromic 2
Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ... OMIM:300166
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Myhre Syndrome
Submucous cleft hard palate, Cleft palate, Gingival cleft, Skeletal muscle hypertrophy, Hypertens... ORPHA:2588
Desmosterolosis
Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Submucous cleft hard pal... ORPHA:35107
Neu-Laxova Syndrome
Decreased fetal movement, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musc... ORPHA:2671
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Long philtrum ORPHA:2756
Cleft Soft Palate
Cleft soft palate OMIM:119570
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Depressed nasal bridge, Abnormality of the denti... OMIM:617140
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Depressed nasal... ORPHA:2753
Native American Myopathy
Skeletal muscle atrophy, Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Cleft p... ORPHA:168572
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, Aortic root an... OMIM:618891
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Hydrops fetalis, Dehydration, Death in childhood, Steatorrhea OMIM:557000
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure... ORPHA:2250
Restrictive Dermopathy
Decreased fetal movement, Natal tooth, Aplasia/Hypoplasia involving the nose, Premature birth, Pr... ORPHA:1662
Tolchin-Le Caignec Syndrome
Diastasis recti, Prominent nose, Submucous cleft hard palate, Wide nasal bridge, Cardiac rhabdomy... OMIM:618971
Birk-Barel Syndrome
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula OMIM:612292
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Polyhydramnios ORPHA:93316
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic... ORPHA:199302
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Lar... ORPHA:100050
Autoimmune Lymphoproliferative Syndrome
Gastritis, Vasculitis, Hydrops fetalis, Colitis, Recurrent aphthous stomatitis, Neoplasm of the t... ORPHA:3261
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Ventricular septa... ORPHA:2461
Yunis-Varon Syndrome
Thin upper lip vermilion, Premature birth, Ventricular septal defect, Polyhydramnios, Premature l... OMIM:216340
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Aganglionic megacol... OMIM:235730
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Hip contracture, Broad nasal tip, Deep philtrum, Submucous cleft hard p... OMIM:619194
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Walker-Warburg Syndrome
Skeletal muscle atrophy, Submucous cleft hard palate, Cleft palate, Muscular dystrophy, Aplasia/H... ORPHA:899
Branchioskeletogenital Syndrome
Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Broad nasal tip, Submucous c... ORPHA:1299
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Cleft upper lip, Esophageal atresia, Hydrops fetalis, Ectopic ... ORPHA:93271
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Coffin-Siris Syndrome 12
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Celi... OMIM:619325
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Flexion contracture, Downturned corners of mouth, Shor... OMIM:619321
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, A... ORPHA:261537
Niemann-Pick Disease Type C
Fetal ascites, Bone-marrow foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Hydr... ORPHA:646
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Mowat-Wilson Syndrome
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Widely spaced tee... ORPHA:2152
Dubowitz Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Broad nasal tip, Carious teeth, Velopharyngeal... OMIM:223370
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Orofacial cleft, High palate, Atrial septal defect,... OMIM:607872
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, A... ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Transient ischemic attack, Depressed nasal bridge, Submucous cleft soft palate, Wide nasal bridge... ORPHA:500150
Campomelic Dysplasia
Irregular dentition, Depressed nasal bridge, Polyhydramnios, Carious teeth, Contracture of the di... OMIM:114290
Holoprosencephaly 2
Aplasia of the nasal bone, Proboscis, Submucous cleft hard palate, Absent nasal septal cartilage,... OMIM:157170
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Anteverted nares, Wide nasal ridge, Convex nasal ridge, Ab... ORPHA:3455
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Choanal atresia, Facial palsy, High, narrow palate, Submucous ... ORPHA:2658
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Malabsorption, Abnormality of t... ORPHA:235
Hepatoerythropoietic Porphyria
Erythrodontia, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Congenital Erythropoietic Porphyria
Erythrodontia, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Thickened nuchal skin fold, Premature birth, Prominent nose, Long nose, Bulbous nose, Submucous c... ORPHA:2636
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick ve... ORPHA:2554
Neuroocular Syndrome
Scapular winging, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Ankylogl... OMIM:619539

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 Crk

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 Crk.

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

Title Journal IMPC Allele PubMed ID
Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment. Science advances (May 2022) Crkltm1a(EUCOMM)Hmgu PMC9106291
Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis. Life science alliance (February 2020) Crkltm1c(EUCOMM)Hmgu PMC7010317
IL-7-induced phosphorylation of the adaptor Crk-like and other targets. Cellular signalling (March 2018) Crkltm1c(EUCOMM)Hmgu Crkltm1a(EUCOMM)Hmgu 29581031
Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development. Proceedings of the National Academy of Sciences of the United States of America (April 2017) Crkltm1c(EUCOMM)Hmgu Crkltm1a(EUCOMM)Hmgu Crkltm1d(EUCOMM)Hmgu PMC5441740
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. The New England journal of medicine (January 2017) Crkltm1c(EUCOMM)Hmgu PMC5559731

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MGI Allele Allele Type Produced
Crktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Crktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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