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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, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Hypertension,... ORPHA:563
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Persistent fetal circulation, Atrial septal defect, High, narrow palate, Tricuspid r... OMIM:612863
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, ... OMIM:619433
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Infantile Sialic Acid Storage Disease
High palate, Gingival overgrowth, Death in childhood, Hydrops fetalis, Anteverted nares, Ascites,... OMIM:269920
Fetal Gaucher Disease
High palate, Flexion contracture, Depressed nasal bridge, Intracranial hemorrhage, Hydrops fetali... ORPHA:85212
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Premature birth, Ventricular septal defect, Oligohydramnio... ORPHA:1909
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... ORPHA:1993
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Depressed nasal bridge, Hydrops fetalis, Oligohydramnios, ... OMIM:601927
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Thin vermilion border, Nonimmune hydrops fetalis, Death in infancy, Abnormal... OMIM:608540
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Nasal polyposis, Median cleft lip OMIM:155145
Mulibrey Nanism
Myocardial fibrosis, Dental malocclusion, Hypodontia, Depressed nasal bridge, Pericardial constri... OMIM:253250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic card... OMIM:618815
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites ORPHA:295
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, Right ventricular dilatation, First degree atr... OMIM:615616
Transaldolase Deficiency
Atrial septal defect, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Edema, Te... ORPHA:101028
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Single umbilical artery, Hydrops fetalis, Ventricular septa... ORPHA:3405
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Anteverted nares, Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
Hydrops Fetalis
Miscarriage, Arrhythmia, Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, Lym... ORPHA:1041
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... ORPHA:45452
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... ORPHA:99103
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Nasal polyposis, Situs inversus totalis OMIM:617092
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Esophageal varix, Portal hypertension, Edema, Arthrogryposis mul... OMIM:232500
Lipoid Proteinosis
High palate, Abnormality of the gingiva, Abnormal oral mucosa morphology, Tongue nodules, Microgl... ORPHA:530
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Flexion contracture, Hydrops fetalis, Cardiomegaly, Ventricular septal defect, Poly... OMIM:616897
Ciliary Dyskinesia, Primary, 22
Recurrent sinusitis, Situs inversus totalis, Dextrocardia, Rhinitis, Absent inner and outer dynei... OMIM:615444
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Absent inner and outer dynein arms, Nasal polyposis OMIM:606763
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Ciliary Dyskinesia, Primary, 19
Recurrent sinusitis, Situs inversus totalis, Rhinitis, Absent inner and outer dynein arms, Nasal ... OMIM:614935
Eosinophilic Granulomatosis With Polyangiitis
Malabsorption, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis... ORPHA:183
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... ORPHA:2414
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... ORPHA:99104
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Fetal pericardial effusion, Nonimmune hyd... OMIM:620014
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Abnormality of the pulmonary artery, I... ORPHA:90308
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Intestinal malrotation, Ectopic... ORPHA:244
Minicore Myopathy With External Ophthalmoplegia
High palate, Nemaline bodies, Muscular dystrophy, Hydrops fetalis, Increased variability in muscl... OMIM:255320
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Short nose, Anteverte... ORPHA:932
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventr... OMIM:619705
Alg9-Cdg
Wide mouth, Depressed nasal bridge, Ventricular septal defect, Short nose, Abnormal heart morphol... ORPHA:79328
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Lethal Congenital Contracture Syndrome 10
High palate, Torticollis, Narrow palate, Oligohydramnios, Hydrops fetalis, Long philtrum, Ventric... OMIM:617022
Ciliary Dyskinesia, Primary, 5
Chronic rhinitis, Situs inversus totalis, Nasal polyposis, Recurrent sinusitis OMIM:608647
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Abnormality o... ORPHA:2869
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Short nose, Anteverte... ORPHA:93298
Ciliary Dyskinesia, Primary, 15
Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Short nose, Anteverte... ORPHA:93299
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Trisomy 1Q
Anal atresia, Narrow mouth, Congenital diaphragmatic hernia, Cleft palate, Depressed nasal bridge... ORPHA:261344
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Ciliary Dyskinesia With Excessively Long Cilia
Chronic rhinitis, Recurrent bronchitis, Abnormal respiratory motile cilium morphology, Nasal poly... OMIM:242680
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Preeclampsia, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive heart fa... ORPHA:163596
Gm1-Gangliosidosis, Type I
Gingival overgrowth, Depressed nasal ridge, Hydrops fetalis, Dilated cardiomyopathy, Death in inf... OMIM:230500
Neuraminidase Deficiency
Facial edema, Hydrops fetalis, Ascites, Bone-marrow foam cells, Skeletal muscle atrophy, Cardiomy... OMIM:256550
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Short p... OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula, Anteverted nares OMIM:615942
Achondrogenesis, Type Ib
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation OMIM:600972
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth OMIM:215045
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Cam... OMIM:619110
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... ORPHA:70591
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Nonimmune hydrops fetalis, Polyhydramnios,... ORPHA:367
Double Outlet Right Ventricle
Double outlet right ventricle, Narrow mouth, Hypoplastic left heart, Cleft palate, Intestinal mal... ORPHA:3426
Ciliary Dyskinesia, Primary, 42
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis OMIM:618695
Ciliary Dyskinesia With Defective Radial Spokes
Chronic rhinitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Anencephaly 2
Median cleft palate, Bifid nose, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Achondrogenesis, Type Ii
Cleft palate, Hydrops fetalis, Polyhydramnios, Edema, Stillbirth OMIM:200610
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Miscarriage, Cleft palate, Flexion contracture, Hydrops fetalis, Increased placenta... ORPHA:1865
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic rhinitis, Situs inversus totalis, Recurrent bronchitis, Absent outer dyn... OMIM:244400
Fibrochondrogenesis 1
Narrow mouth, Joint contracture of the hand, Cleft palate, Depressed nasal bridge, Hydrops fetali... OMIM:228520
Immunodeficiency 13
Recurrent sinusitis, Recurrent upper respiratory tract infections, Nasal polyposis OMIM:615518
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Nasal polyposis OMIM:604571
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... OMIM:265380
Gaucher Disease, Perinatal Lethal
Narrow mouth, Everted lower lip vermilion, Depressed nasal bridge, Nonimmune hydrops fetalis, Neo... OMIM:608013
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Peripheral pulmonary artery stenosis, Tooth malposition, Clef... ORPHA:2712
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Bulbous nose, Cleft palate, Dysplastic pulmonary valve, Bifid uvula, Anteverted ... OMIM:300958
Temple Syndrome
High palate, Cleft palate, Flexion contracture, Depressed nasal bridge, Short philtrum, Bifid uvu... OMIM:616222
Trisomy 13
Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentition, Hydrops fe... ORPHA:3378
Gm1 Gangliosidosis
Abnormal heart morphology, Narrow mouth, Gingival overgrowth, Depressed nasal ridge, Macroglossia... ORPHA:354
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Rhabdomyolysis, Dilated cardiomyopath... OMIM:609015
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Death in infancy, Premature birth OMIM:618839
Sialidosis Type 2
Flexion contracture, Hydrops fetalis, Pedal edema, Ascites, Skeletal muscle atrophy ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Prematu... OMIM:618835
Congenital Enterovirus Infection
Hydrops fetalis, Premature birth, Hypotension, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleur... ORPHA:292
Mosaic Trisomy 9
High palate, Bulbous nose, Atrial septal defect, Cleft palate, Intestinal malrotation, Camptodact... ORPHA:99776
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Depressed nasal bridge, Hydrops fetalis, Cleft palate ORPHA:85166
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis ORPHA:2204
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Pla... ORPHA:69735
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Hydrops fetalis, Absence of stomach bubble on f... OMIM:200600
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, High, narrow palate, Bifid uvula, Small hypothenar eminence, Plantar flexion contrac... ORPHA:2872
Peutz-Jeghers Syndrome
Intestinal bleeding, Multiple gastric polyps, Intussusception, Labial melanotic macule, Rectal pr... OMIM:175200
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hydrops fetalis, Coarctation of aorta... ORPHA:268249
Cardiac Valvular Dysplasia 1
Mitral stenosis, Tricuspid atresia, Tricuspid valve prolapse, Tricuspid regurgitation, Hydrops fe... OMIM:212093
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate OMIM:619239
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, High-output congestive heart failure, Chylothorax, Abnormality of the ... ORPHA:137667
Viss Syndrome
High palate, Chronic gastritis, Depressed nasal bridge, Aortic tortuosity, Pulmonary artery aneur... OMIM:619472
Zimmermann-Laband Syndrome 3
High palate, Gingival overgrowth, Flexion contracture, Broad nasal tip, Bifid uvula, Wide nasal b... OMIM:618658
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Facial palsy, Abnormal parotid gland morphol... ORPHA:252164
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in childhood, Bifid uvula, ... OMIM:612938
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis ORPHA:1263
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Long nose, Palpebral edema, Nonimmune hy... OMIM:137940
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Depressed nasal bridge, Hydr... OMIM:616546
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites ORPHA:2123
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Mgat2-Cdg
Recurrent upper and lower respiratory tract infections, Convex nasal ridge, Low hanging columella... ORPHA:79329
Schneckenbecken Dysplasia
Cleft palate, Nonimmune hydrops fetalis, Polyhydramnios, Short nose, Stillbirth OMIM:269250
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Abnormality of the dentition, Palmar telangiectasia, Palpebr... OMIM:607823
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
High palate, Triangular mouth, Depressed nasal bridge, Microdontia, Flexion contracture, Hydrops ... OMIM:300868
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Depressed nasal bridge, Bifid uvula, Anteverted nares, Pierre-... OMIM:604841
Diamond-Blackfan Anemia 6
Cleft upper lip, Atrial septal defect, Cleft palate, Mitral regurgitation, Bifid uvula, Tetralogy... OMIM:612561
Mucopolysaccharidosis, Type Vii
Gingival overgrowth, Macroglossia, Flexion contracture, Recurrent upper respiratory tract infecti... OMIM:253220
Coffin-Siris Syndrome 11
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Bifid uvula, Downturned corners of... OMIM:618779
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Depressed nasal bridge, Chylous ascites, Palpebral edema, Nonimmune hy... OMIM:265300
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... OMIM:192445
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Intestinal malrotation, Depressed nasal bridge, Abnormal nasal morphology, Long phi... ORPHA:404440
Gm1 Gangliosidosis Type 1
Gingival overgrowth, Macroglossia, Broad nasal tip, Depressed nasal bridge, Hydrops fetalis, Long... ORPHA:79255
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Maternal hypertension, Bifid uvula ORPHA:2669
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Agenesis of permanent teeth, Hydrops fetalis, Microdontia... OMIM:614091
Autosomal Recessive Centronuclear Myopathy
High palate, Facial diplegia, Narrow mouth, Hip contracture, Left ventricular hypertrophy, Facial... ORPHA:169186
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the dentition, Muscular dystrophy, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Hennekam Syndrome
Malabsorption, Tooth agenesis, Gingival overgrowth, Narrow mouth, Supernumerary tooth, Chylothora... ORPHA:2136
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate OMIM:616738
Campomelia, Cumming Type
Cleft palate, Hydrops fetalis, Lymphedema, Death in infancy, Abnormal intestine morphology, Oligo... ORPHA:1318
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Abnormality of the sense of smell, Glossoptosis, Camptodactyly o... ORPHA:3201
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, High, narrow palate, Cleft palate, Delayed eruption of teeth, Bifid uvula,... ORPHA:2780
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bulbous nose, Thin vermilion border, Depressed nasal bridge, Short philtrum, Bifid uvula, Deep ph... OMIM:618622
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula, ... ORPHA:1790
Loeys-Dietz Syndrome 5
High palate, Hiatus hernia, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the ... OMIM:615582
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Steatorrhea, Depressed nasal bridge, Death in childhood, Nonimmune hydrops f... OMIM:212065
Alg8-Cdg
Macroglossia, Oligohydramnios, Hydrops fetalis, Camptodactyly, Edema, Ascites, Premature birth ORPHA:79325
Cystic Fibrosis
Ileus, Steatorrhea, Meconium ileus, Cor pulmonale, Dehydration, Rectal prolapse, Nasal polyposis OMIM:219700
Velocardiofacial Syndrome
Bulbous nose, Velopharyngeal insufficiency, Cleft palate, Double aortic arch, Tetralogy of Fallot... OMIM:192430
Free Sialic Acid Storage Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Ascites ORPHA:834
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Depressed nasal bridge, Short philtrum, Bifid uvula, Pyl... ORPHA:96184
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Ventricular se... ORPHA:96170
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Bulbous nose, Dysplastic pulmonary valve, Depressed nasal bridge, Ventricular septal ... OMIM:619103
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Lymphatic Malformation 6
Facial edema, Atrial septal defect, Genital edema, Chylothorax, Nonimmune hydrops fetalis, Polyhy... OMIM:616843
Cranioectodermal Dysplasia 2
High palate, Atrial septal defect, Cleft palate, Everted lower lip vermilion, Depressed nasal bri... OMIM:613610
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Cleft palate, Intestinal malrotation, Hydrops feta... OMIM:263520
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Hydrops fetalis, Long philtrum, Coarctation of aorta, Polyhydramnios, Sho... ORPHA:50945
Osteogenesis Imperfecta, Type Ii
Convex nasal ridge, Pulmonary insufficiency, Nonimmune hydrops fetalis, Premature birth, Congesti... OMIM:166210
Mucopolysaccharidosis, Type Ix
Depressed nasal bridge, Bifid uvula, Submucous cleft hard palate OMIM:601492
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Premature birth, Cardiomegaly OMIM:618838
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Multiple Epiphyseal Dysplasia, Lowry Type
Broad nasal tip, Cleft hard palate, Knee flexion contracture ORPHA:166016
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal malrotation, Long p... OMIM:614701
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula, Thin upper l... ORPHA:576283
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thin vermilion border, Depressed nasal bridge, Bifid uvula, Sub... OMIM:617412
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cleft palate, Broad nasal tip, Depressed nasal bridge, Thick ver... ORPHA:250999
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal heart morphology, Bicuspid aortic valve, Contracture of the proximal interp... ORPHA:457279
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Congenital Disorder Of Glycosylation, Type Id
High palate, Bulbous nose, Joint contracture of the hand, Flexion contracture, Depressed nasal br... OMIM:601110
Chromosome 18Q Deletion Syndrome
Cleft upper lip, U-Shaped upper lip vermilion, Absence of the pulmonary valve, Aortic valve steno... OMIM:601808
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Yunis-Varon Syndrome
Short philtrum, Pyloric stenosis, Ventricular septal defect, Narrow nasal base, Abnormality of de... ORPHA:3472
Multiple Pterygium Syndrome, Escobar Variant
High palate, Dental malocclusion, Narrow mouth, Multiple joint contractures, Triangular mouth, Cl... OMIM:265000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Bulbous nose, Long upper lip, Cleft palate, Everted lower lip vermilion, Pierre-Robi... OMIM:608670
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Bulbous nose, Prominent nasal tip, Depressed nasal tip, Short philtrum, Broad columella, Thick na... ORPHA:293725
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Broad nasal tip, Protruding tongue, Thick vermilion bor... OMIM:618106
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft pa... OMIM:616331
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Velopharyngeal insufficiency, Atria... ORPHA:363444
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Cleft soft palate, Esophageal atresia, Facial hypotonia, Smooth philtrum OMIM:614526
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Stomatitis, Glossitis, Dil... ORPHA:79282
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Sarcoidosis
Joint swelling, Chylothorax, Facial palsy, Arrhythmia, Enlargement of parotid gland, Abnormal nas... ORPHA:797
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Macroglossia, Atrioventri... ORPHA:453499
Pallister W Syndrome
Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Depressed nasal brid... OMIM:311450
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Hydrolethalus
Cleft palate, Abnormality of the sense of smell, Gingival cleft, Bifid uvula, Polyhydramnios, Uni... ORPHA:2189
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Aortic valve stenosis, Hypoplastic left heart, Bifid uvula... OMIM:617660
Stickler Syndrome, Type I
Cleft palate, Depressed nasal bridge, Bifid uvula, Mitral valve prolapse, Anteverted nares, Pierr... OMIM:108300
Blackfan-Diamond Anemia
High palate, Abnormality of the thenar eminence, Atrial septal defect, Depressed nasal bridge, Wi... ORPHA:124
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Schilbach-Rott Syndrome
Narrow mouth, Long nose, Bifid uvula, Prominent nose, Submucous cleft hard palate OMIM:164220
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Depressed ... OMIM:129400
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Depressed nasal bridge, Delayed eruption of teeth, Bifid uvula, Polyhydramnios, Cle... OMIM:300990
Amish Lethal Microcephaly
Limb hypertonia, Death in infancy, Cleft soft palate, Decreased fetal movement ORPHA:99742
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Depressed nasal brid... OMIM:612350
Congenital Disorder Of Glycosylation, Type It
Cleft palate, Sudden cardiac death, Tachycardia, Bifid uvula, Coarctation of aorta, Cardiomegaly,... OMIM:614921
Loeys-Dietz Syndrome 4
High palate, Torticollis, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration o... OMIM:614816
Gaucher Disease Type 3
Aortic valve calcification, Mitral valve calcification, Hydrops fetalis, Abnormal myocardium morp... ORPHA:77261
W Syndrome
Broad nasal tip, Depressed nasal bridge, Camptodactyly, Broad uvula, Agenesis of maxillary centra... ORPHA:2804
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Wide nose, Choan... OMIM:619227
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Farber Disease
Joint swelling, Flexion contracture, Recurrent upper respiratory tract infections, Hydrops fetali... ORPHA:333
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Abnormal dental enamel morphology, Hypodontia, Cleft palate, Submucous cleft soft palate, Delayed... ORPHA:1071
Buratti-Harel Syndrome
High palate, Atrial septal defect, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft har... OMIM:619314
Spondylometaphyseal Dysplasia, Schmidt Type
Polyhydramnios, Cleft soft palate ORPHA:93316
Zimmermann-Laband Syndrome
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossi... ORPHA:3473
Greenberg Dysplasia
Echogenic fetal bowel, Depressed nasal ridge, Depressed nasal bridge, Hydrops fetalis, Nonimmune ... OMIM:215140
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Abnormality of the nares, Abnormality of the dentition, Camptodactyly of f... ORPHA:178303
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Triangular mouth, Ventricular septal defect, Aortic root aneurysm, Right bundle bran... OMIM:617506
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Triangular mouth, Cleft palate, Shor... OMIM:200990
Generalized Arterial Calcification Of Infancy
Medial calcification of medium-sized arteries, Aortic dissection, Ventricular hypertrophy, Transi... ORPHA:51608
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Bifid uvula, Distal art... OMIM:114300
Meckel Syndrome 12
Bifid uvula, Arthrogryposis multiplex congenita, Anteverted nares, Oligohydramnios, Wide nasal br... OMIM:616258
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Bulbous nose, Atrial septal defect, Open bite, Pulmonic stenosi... OMIM:115150
Fraser Syndrome 3
Wide nose, Hydrops fetalis, Convex nasal ridge OMIM:617667
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Telangiectasia, Bulbous nose, Single umbilical artery, Short philtrum, Bifid uvula, ... ORPHA:247262
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Secundum atrial septal defect, Pulmonic stenosis, Depressed nasal bridge, Abnormality... OMIM:615802
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Unilateral cleft lip, Anteverted nares, Scapular winging, Submucous clef... OMIM:619122
Phocomelia, Schinzel Type
Anal atresia, High, narrow palate, Cleft palate, Tracheoesophageal fistula, Hydrops fetalis, Shor... ORPHA:2879
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Secundum atrial septal defect, Hypertrophic cardiomyopathy, Short philtrum, Long... OMIM:619121
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Moebius Syndrome
High palate, Facial diplegia, Depressed nasal bridge, Abnormality of the dentition, Bifid uvula, ... OMIM:157900
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular hypertrophy... OMIM:178600
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Tetralogy of ... OMIM:174300
Gaucher Disease
Aortic valve calcification, Abnormal pericardium morphology, Mitral valve calcification, Hydrops ... ORPHA:355
Frontometaphyseal Dysplasia 2
High palate, Hip contracture, Bicuspid aortic valve, Cleft palate, Pulmonic stenosis, Broad nasal... OMIM:617137
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Wide mouth, Narrow mouth, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Hi... OMIM:300967
Restrictive Dermopathy 1
Premature rupture of membranes, Limb joint contracture, Narrow mouth, Convex nasal ridge, Atrial ... OMIM:275210
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Broad nasal tip, Depressed nasal bridge, Downturned corners of mouth, Thin upper lip... OMIM:619680
Cardiofaciocutaneous Syndrome
High palate, Atrial septal defect, Pulmonic stenosis, Depressed nasal bridge, Long philtrum, Shor... ORPHA:1340
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Median cleft palate, Hypoplastic left heart, Cle... OMIM:301043
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Anal atresia, Bulbous nose, Atrial septal defect, Cleft palate, Depressed nasal bridge, Abnormali... OMIM:300968
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Broad nasal tip, Ventricular septal defect, Open mouth, Intestinal pseudo-obstructi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Broad nasal tip, Ventricular septal defect, Open mouth, Intestinal pseudo-obstructi... ORPHA:352665
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Bifid uvula, Ventricular septal defect, Choanal atresia, Prominent nasal bridge OMIM:300472
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bulbous nose, Atrial septal defect, Atrioventricular canal defect, Long nose, Camptodactyly of fi... ORPHA:3047
Trisomy 8P
Multiple joint contractures, Peripheral pulmonary artery stenosis, Cleft palate, Thin vermilion b... ORPHA:264450
Myhre Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Cleft palate, Skeletal muscle hypertrophy, Thin... ORPHA:2588
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Nonimmune hydrops fetalis, Death in infancy, Pleural effusion OMIM:617049
Desmosterolosis
Narrow mouth, Anomalous pulmonary venous return, Cleft palate, Intestinal malrotation, Depressed ... ORPHA:35107
Orofaciodigital Syndrome Type 2
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Orofaciodigital Syndrome Iii
Bulbous nose, Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules OMIM:258850
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Alveolar ridge overgrowth, Cleft palate, Everted lower lip vermilion, Br... ORPHA:177907
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft palate, Ventricular septal defect, Thick lower lip vermilion, Cleft upper lip,... OMIM:300373
Trichohepatoenteric Syndrome 1
Wide mouth, Narrow mouth, Depressed nasal ridge, Pulmonic stenosis, Long philtrum, Bifid uvula, T... OMIM:222470
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... OMIM:300166
Pearson Syndrome
Steatorrhea, Corneal stromal edema, Dehydration, Hydrops fetalis, Median cleft lip and palate, Ca... ORPHA:699
Cri-Du-Chat Syndrome
High palate, Diastasis recti, Short philtrum, Anterior open-bite malocclusion, Bifid uvula, Oral ... OMIM:123450
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Ascites ORPHA:584
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Neu-Laxova Syndrome
Cleft palate, Everted lower lip vermilion, Depressed nasal ridge, Flexion contracture, Muscular d... ORPHA:2671
Holoprosencephaly 3
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Cleft lip, Solitary m... OMIM:142945
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Glossoptosis, Depressed nasal bridge, Bifid uvula, Polyhydramnios, Anteverted nares ORPHA:1427
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Flexion contracture, Narrow nose, Generalized limb muscle atrophy, Aortic r... OMIM:618891
Zttk Syndrome
High palate, Narrow mouth, Atrial septal defect, Intestinal atresia, Flexion contracture, Thin ve... OMIM:617140
White-Sutton Syndrome
High palate, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Thin vermilion ... OMIM:616364
Galactosialidosis
Nonimmune hydrops fetalis, Conjunctival telangiectasia OMIM:256540
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Depressed nasal ridge, Cleft palate, Short philtrum, Short nose, Perin... ORPHA:2753
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Cleft palate, Hyposmia, Failure of eruption of permanent teeth, Bifid uvula, S... ORPHA:2250
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Bifid uvula, Tetralogy of Fallot, Coarctation of aorta, Ventricular septal ... OMIM:617159
Tolchin-Le Caignec Syndrome
High palate, Diastasis recti, Narrow mouth, Prominent nose, Cardiac rhabdomyoma, Wide nasal bridg... OMIM:618971
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Cleft palate, Depr... OMIM:154780
Limb-Mammary Syndrome
Joint contracture of the hand, Hypodontia, Cleft palate, Bifid uvula, Camptodactyly OMIM:603543
Cerebrocostomandibular Syndrome
High palate, Atrial septal defect, Glossoptosis, Abnormality of the dentition, Short hard palate,... OMIM:117650
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Van Esch-O'Driscoll Syndrome
Wide mouth, Pulmonary valve atresia, Atrial septal defect, Depressed nasal bridge, Tracheoesophag... OMIM:301030
Restrictive Dermopathy
Multiple joint contractures, Narrow mouth, Aplasia/Hypoplasia involving the nose, Atrial septal d... ORPHA:1662
Temple Syndrome
Premature birth, Bifid uvula ORPHA:254516
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Dental crowding, Bulbous nose, High, narrow palate, Cleft palate, Short philtrum, Bifid uvula, An... OMIM:309583
Treacher Collins Syndrome 1
Wide mouth, Narrow mouth, Cleft palate, Choanal atresia, Abnormal parotid gland morphology, Cleft... OMIM:154500
Marden-Walker Syndrome
Narrow mouth, Cleft palate, Muscular dystrophy, Abnormal anatomic location of the heart, Camptoda... ORPHA:2461
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Tricuspid regurgitation, Mitral regurgitation, Type 1 muscle fiber predominance, ... OMIM:614557
Apert Syndrome
Ectopic anus, Narrow palate, Convex nasal ridge, Cleft palate, Depressed nasal bridge, Delayed er... ORPHA:87
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Wide nasal bridge, Short nose, Anteverted nares, Pulmonary arterial ... ORPHA:2282
15Q Overgrowth Syndrome
High palate, Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow pa... ORPHA:314585
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Convex nasal ridge, Thin vermilion border, Depressed nasal bridge, Long philtrum, Bifid uvula OMIM:241410
Orofaciodigital Syndrome Type 3
Bulbous nose, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, I... ORPHA:2752
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth OMIM:602522
Pearson Marrow-Pancreas Syndrome
Malabsorption, Steatorrhea, Death in childhood, Dehydration, Hydrops fetalis, Villous atrophy OMIM:557000
Steinfeld Syndrome
Aplasia of the nose, Median cleft lip and palate, Bifid uvula, Abnormal heart morphology OMIM:184705
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Cleft palate, Long philtrum, Delayed eruption of teeth, Bifid uvula, Car... OMIM:607812
Hardikar Syndrome
Premature rupture of membranes, Atrial septal defect, Hematemesis, Intestinal malrotation, Coarct... OMIM:301068
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Muscular ventricular septal defect, Depressed nasal bridge, Delayed erup... OMIM:619503
Megalocornea-Mental Retardation Syndrome
High palate, Depressed nasal bridge, Long philtrum, Bifid uvula, Wide nasal bridge OMIM:249310
Apert Syndrome
Ectopic anus, Dental malocclusion, Narrow palate, Cleft palate, Depressed nasal bridge, Delayed e... OMIM:101200
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, ... ORPHA:137888
Walker-Warburg Syndrome
Cleft palate, Muscular dystrophy, Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculat... ORPHA:899
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, Bulbous nose, Cleft palate, Broad nasal tip, Eclabion, Short philtrum, Limb hypertoni... OMIM:619950
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Narrow mouth, Atrioventricular canal defect, Broad nasal tip, Bifid uvula, Coarctati... OMIM:619480
Meckel Syndrome, Type 10
Bifid uvula, Cleft palate, Camptodactyly OMIM:614175
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Autoimmune Lymphoproliferative Syndrome
Colitis, Gastritis, Hydrops fetalis, Vasculitis, Recurrent aphthous stomatitis, Neoplasm of the t... ORPHA:3261
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Accessory oral frenulum, Long philtrum, Cleft soft palate ORPHA:2756
Branchioskeletogenital Syndrome
Premature loss of teeth, Thin vermilion border, Broad nasal tip, Depressed nasal bridge, Short ph... ORPHA:1299
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Wide mouth, Hip contracture, Macroglossia, Broad nasal tip, Oligohydramnios, Microdontia, Thin lo... OMIM:619194
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormal pulmonary valve morphology, Supernumerary tooth, Aortic valve stenosis, Broad nasal tip,... ORPHA:268261
Yunis-Varon Syndrome
High palate, Thin vermilion border, Broad alveolar ridges, Short philtrum, Hydrops fetalis, Prema... OMIM:216340
Mowat-Wilson Syndrome
Abnormal heart morphology, Prominent nasal tip, Atrial septal defect, Tooth malposition, Cleft pa... OMIM:235730
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Convex nasal ridge, Hypoplasia of the tooth germ, Bifid uvula, Contracture of the proximal interp... ORPHA:293967
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Bulbous nose, Abnormal cardiac septum morphology, ... ORPHA:3310
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Native American Myopathy
High palate, Muscle fiber atrophy, Cleft palate, Submucous cleft soft palate, Bifid uvula, Abnorm... ORPHA:168572
Coffin-Siris Syndrome 12
High palate, Celiac disease, Bulbous nose, Prominent nasal tip, Velopharyngeal insufficiency, Low... OMIM:619325
Dubowitz Syndrome
High palate, Velopharyngeal insufficiency, Broad nasal tip, Agenesis of permanent teeth, Delayed ... OMIM:223370
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Eosinophilic infiltration of the esophagus, Cleft pa... OMIM:609192
Elsahy-Waters Syndrome
High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Anteriorly placed anus, Age... OMIM:211380
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Narrow mouth, Cleft palate, Small thenar eminence, Bifid uvula, Aplasia of the epigl... OMIM:268305
Meester-Loeys Syndrome
Flexion contracture, Mitral regurgitation, Pulmonary artery aneurysm, Bifid uvula, Camptodactyly,... OMIM:300989
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Depressed nasal ridge, Depressed nasal bridge, Ventricular septal defect, Aortic roo... OMIM:607872
Ring Chromosome 7 Syndrome
Narrow mouth, Median cleft palate, Cleft palate, Thin vermilion border, Short philtrum, Bifid uvu... ORPHA:1449
Desbuquois Dysplasia 2
Hypodontia, Cleft palate, Depressed nasal bridge, Long philtrum, Bifid uvula, Dental crowding OMIM:615777
Branchiootorenal Syndrome 1
High palate, Cleft palate, Intestinal malrotation, Branchial fistula, Microdontia, Bifid uvula, I... OMIM:113650
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Bifid uvula, Cleft palate OMIM:606164
Frontometaphyseal Dysplasia
Hypoplasia of the musculature, Interphalangeal joint contracture of finger, Joint contracture of ... ORPHA:1826
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Birk-Barel Syndrome
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion OMIM:612292
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cleft palate, Depressed nasal tip, Short philtrum, Pulmonary artery sling, Delayed eruption of te... ORPHA:261537
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Smith-Lemli-Opitz Syndrome
Cleft palate, Broad alveolar ridges, Depressed nasal bridge, Pyloric stenosis, Ventricular septal... OMIM:270400
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Dental malocclusion, Multiple joint contractures, Hypodontia, Fragil... ORPHA:2959
Loeys-Dietz Syndrome 3
High palate, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus of... OMIM:613795
Campomelic Dysplasia
High palate, Abnormal heart morphology, Narrow mouth, Depressed nasal ridge, Cleft palate, Depres... OMIM:114290
Niemann-Pick Disease Type C
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Foam cells, Fetal ascites,... ORPHA:646
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Anal atresia, Ectopic anus, Depressed nasal bridge, Bifid tongue, Long philtrum,... ORPHA:93271
Holoprosencephaly 2
Single ventricle, Bifid uvula, Bilateral cleft lip and palate, Aplasia of the nasal bone, Submuco... OMIM:157170
Aneurysm-Osteoarthritis Syndrome
High palate, Dental malocclusion, Cleft palate, Pulmonic stenosis, Mitral regurgitation, Left ven... ORPHA:284984
Semilobar Holoprosencephaly
High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... ORPHA:220386
Alobar Holoprosencephaly
High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... ORPHA:93926
Lobar Holoprosencephaly
High palate, Abnormal heart morphology, Cleft palate, Depressed nasal ridge, Flexion contracture,... ORPHA:93924
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Subarachnoid h... OMIM:187300
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Mowat-Wilson Syndrome
Abnormal cardiac septum morphology, Cleft palate, Depressed nasal tip, Pulmonary artery sling, De... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cleft palate, Depressed nasal tip, Short philtrum, Pulmonary artery sling, Delayed eruption of te... ORPHA:261552
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Convex nasal ridge, Bifid uvula, Wide nose, Prominent nose, Lar... OMIM:601552
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Submucous cleft soft palate, Bifid uvula, Cleft lip, Cleft hard palate ORPHA:69085
Frontofacionasal Dysplasia
Cleft upper lip, Bifid nose, Bifid uvula, Oral cleft, Short nose, Midline defect of the nose, Und... OMIM:229400
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Joint contracture of the hand, Eosinophilic infiltra... OMIM:610168
Baller-Gerold Syndrome
High palate, Anal atresia, Narrow mouth, Cleft palate, Bifid uvula, Anteriorly placed anus, Choan... OMIM:218600
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, High, narrow palate, Cleft palate, Bifid uvula, Choanal atresia, Thick vermilion bord... ORPHA:2658
Dubowitz Syndrome
High palate, Wide mouth, Malabsorption, Depressed nasal bridge, Abnormality of the dentition, Del... ORPHA:235
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Accessory oral frenulum, Macroglossia, Depressed nasal bridge, Bifid uvu... OMIM:266920
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia OMIM:263540
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, High-output congestive heart failure, Cerebral hemorrhage, Right-to-le... OMIM:610655
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Convex nasal ridge, Flexion contracture, Cleft soft palate, Intestinal malrotation, Downturned co... OMIM:619321
Hepatoerythropoietic Porphyria
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Erythrodontia, Edema ORPHA:95159
Meier-Gorlin Syndrome 5
Thick vermilion border, Long philtrum, Submucous cleft hard palate OMIM:613805
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bulbous nose, Cleft palate, Thickened nuchal skin fold, Long nose, Bifid uvula, Prominent nose, T... ORPHA:2636
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Dental malocclusion, Narrow mouth, Depressed nasal bridge, Abnormality of dental eru... OMIM:211910
Pallister-Hall Syndrome
Anal atresia, Recurrent upper and lower respiratory tract infections, Accessory oral frenulum, At... ORPHA:672
Pallister-Killian Syndrome
Wide mouth, Cleft palate, Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal d... OMIM:601803
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Cleft palate, Thin vermilion border, Depressed nasal bridge, Short philtrum... ORPHA:500150
Ear-Patella-Short Stature Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Camptodactyly of finger, Bifid uvula, Thick verm... ORPHA:2554
Congenital Erythropoietic Porphyria
Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Erythrodontia, Edema ORPHA:79277
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Bifid uvula, Cleft palate OMIM:183900
Loeys-Dietz Syndrome
High palate, Camptodactyly of finger, Bifid uvula, Oral cleft, Aortic dissection, Aortic aneurysm... ORPHA:60030
Lacrimoauriculodentodigital Syndrome
Hypodontia, Corneal neovascularization, Abnormality of the dentition, Xerostomia, Microdontia, Bi... ORPHA:2363
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Narrow mouth, Cleft palate, Flexion contracture, Bifid uvula, Wide nasal bridge OMIM:130070
Wiedemann-Rautenstrauch Syndrome
Premature loss of teeth, Narrow mouth, Convex nasal ridge, Hypodontia, Dysplastic pulmonary valve... ORPHA:3455
Digeorge Syndrome
High palate, High, narrow palate, Cleft palate, Short philtrum, Bifid uvula, Tetralogy of Fallot,... OMIM:188400
Popliteal Pterygium Syndrome
Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit, Fibrous syngnathia OMIM:119500
Neuroocular Syndrome
Short uvula, Torus palatinus, Scapular winging, Downturned corners of mouth, Widely spaced teeth,... OMIM:619539
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula OMIM:601374
Microphthalmia, Syndromic 6
High palate, Flexion contracture of thumb, Cleft palate, Bifid uvula, Microglossia OMIM:607932

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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