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Gene: Setd2 MGI:1918177

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Gene Summary

Name:
SET domain containing 2
Synonyms:
KMT3A,  4921524K10Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Setd2tm1b(NCOM)Mfgc HOM   Early adult 3.26×10-07
short tibia Setd2tm1b(NCOM)Mfgc HOM Early adult 7.21×10-09
decreased exploration in new environment Setd2tm1b(NCOM)Mfgc HOM   Early adult 8.85×10-05
increased grip strength Setd2tm1b(NCOM)Mfgc HOM   Early adult 9.82×10-05
prolonged QRS complex duration Setd2tm1b(NCOM)Mfgc HOM Early adult 1.96×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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Immunophenotyping

Panel A FCS file(s)

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Gross Pathology and Tissue Collection

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Eye Morphology

Images Ophthalmoscopy

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Histopathology

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Immunophenotyping

Panel B FCS file(s)

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Human diseases caused by Setd2 mutations

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

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

The table below shows human diseases associated to Setd2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sotos Syndrome
Patent ductus arteriosus, Abnormal heart morphology, Umbilical hernia, Delayed eruption of perman... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Long foot OMIM:616831

The table below shows human diseases predicted to be associated to Setd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Fatigable weakness of skeletal muscles, Calf muscle hypert... ORPHA:206559
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Short neck, Encephalocele OMIM:613885
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Cantu Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Lymphedema, Pericardial effusion, Congenital hyp... OMIM:239850
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arte... ORPHA:60041
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Hydrops Fetalis
Abnormality of the neck, Polyhydramnios, Lymphedema, Pleural effusion, Ascites, Generalized edema... ORPHA:1041
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Oligo... OMIM:614702
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb muscle weakness, Left anterior fascicular block, Peroneal muscle weakness, Redu... OMIM:181350
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Growth delay ORPHA:2414
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Scapuloperoneal Myopathy, X-Linked Dominant
Achilles tendon contracture, Scapuloperoneal myopathy, Right bundle branch block, Knee flexion co... OMIM:300695
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Leg muscle stiffness, Fatigable weakness of distal limb muscles, Dec... ORPHA:98912
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Spina bifida occulta, Delayed eruption of teeth, Lymphedema, Pleura... OMIM:235510
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Pericardial effusion, Short neck, Atrial septal defect OMIM:608776
Cardiomyopathy, Familial Hypertrophic, 2
Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br... OMIM:115195
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod... ORPHA:356961
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Multiple muscular ventricular septal defects, Short stature, Pericardial effusion... OMIM:620070
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Craniofaciofrontodigital Syndrome
Polyhydramnios, Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Lower eyeli... ORPHA:363705
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Verheij Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short neck, Ven... OMIM:615583
Alkuraya-Kucinskas Syndrome
Webbed neck, Hydrocephalus, Pleural effusion, Pericardial effusion, Cystic hygroma, Edema OMIM:617822
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... OMIM:607143
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... ORPHA:99103
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... ORPHA:439
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy ORPHA:171445
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Palmoplantar keratoderma, Paroxysmal ... OMIM:601214
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Growth delay, Edema ORPHA:90362
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Pulmonic stenosis, Abnormal mitral valve morphology, Short stature ORPHA:1131
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, Pericardial effusion ORPHA:36412
Congenital Enterovirus Infection
Myocarditis, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, Pericardial effus... ORPHA:292
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Congenital-Onset Steinert Myotonic Dystrophy
Talipes, Short attention span, Bradyphrenia, Bundle branch block, First degree atrioventricular b... ORPHA:589821
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Glycogen Storage Disease Of Heart, Lethal Congenital
Peripheral edema, Pulmonary edema, Hydrocephalus, Cardiomyopathy, Ascites, Pleural effusion, Hype... OMIM:261740
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ... OMIM:224700
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Righ... ORPHA:555874
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Low posterior hairline, Spina bifida, Short neck, V... ORPHA:2345
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Te... ORPHA:1908
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Aicardi-Goutieres Syndrome 9
Ascites, Pericarditis, Pericardial effusion, Left ventricular hypertrophy, Edema, Intrauterine gr... OMIM:619487
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short femur, Short tibia, Tricuspid regurgitation OMIM:620306
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Wildervanck Syndrome
Short neck, Low posterior hairline, Webbed neck, Meningocele ORPHA:3456
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Cognitive impairment OMIM:616479
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Pericardial effusion, Ventricular septal defect, Hypertrophic ca... OMIM:618775
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Calf muscle hypertrophy, Right bundle branch block, Distal lower limb muscle weakness, Achilles t... ORPHA:254361
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation, Atrial s... OMIM:611134
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Polyhydramnios, Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial ... OMIM:620519
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Alpha-Thalassemia
Generalized edema, Pericardial effusion, Hydrops fetalis, Pleural effusion ORPHA:846
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Webbed neck, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent urachus, Patent ductu... OMIM:618280
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Branchial anomaly, Pleural effusion, Increased nuchal translucency... ORPHA:453499
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericarditis, Pericardial effusion, Nonimmune hydrops fetalis, Edema OMIM:212065
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Triploidy
Polyhydramnios, Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, S... ORPHA:3376
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Cystic hygroma, Intrauterine growth retardation OMIM:603194
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Rhizomelia, Torticollis, Abnormal left ventricular outflow... ORPHA:79328
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... ORPHA:3320
Poems Syndrome
Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:2905
Tibial Hemimelia
Absent tibia OMIM:275220
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric... ORPHA:26793
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... OMIM:164900
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Right bundle branch block, Tapered finger, Camptodactyly, Tricuspid regurgitation, Mitral regurgi... OMIM:619576
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pulmonary edema, Pedal edema ORPHA:199241
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Pericardial effusion, Anasarca OMIM:618183
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Abnormality of dental eruption, Short stature, Spina bifida ORPHA:1327
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Aymé-Gripp Syndrome
Postnatal growth retardation, Hydrocephalus, Short stature, Pericardial effusion, Pericarditis, P... ORPHA:1272
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Spina bifida, Patent ductus arte... ORPHA:1120
Hennekam Syndrome
Hydrops fetalis, Delayed eruption of teeth, Chylothorax, Lymphedema, Ascites, Pericardial effusio... ORPHA:2136
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Edema, Short neck, Intrauterine growth retardation OMIM:616038
Gaucher Disease Type 3
Delayed puberty, Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Gr... ORPHA:77261
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Intellectual Developmental Disorder, Autosomal Dominant 72
Short neck, Spina bifida OMIM:620439
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Short stature, Umbilical hernia, Intrauterine growth retardati... ORPHA:2311
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Kaposiform Lymphangiomatosis
Pericardial effusion, Abnormality of the neck, Pleural effusion ORPHA:464329
Q Fever
Myocarditis, Abnormal heart valve morphology, Pleural effusion, Pericarditis, Pericardial effusio... ORPHA:781
Humero-Radial Synostosis
Meningocele ORPHA:3265
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh... ORPHA:1880
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... ORPHA:268810
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Dextrocardia, Webbed neck, Abnormal heart valve morphology, Spin... ORPHA:99776
Myhre Syndrome
Patent ductus arteriosus, Aortic valve stenosis, Pericardial effusion, Short stature, Birth lengt... OMIM:139210
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Fountain Syndrome
Short stature, Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Fabry Disease
Congestive heart failure, Abnormal femur morphology, Angina pectoris, Depression, Hypertension, T... ORPHA:324
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Femur fracture, Short clavicles, Right bundle branch block, Micrognathia OMIM:619322
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Pericardial effusion, Edema, Oligohydramnios, Intrauterine growth re... OMIM:615846
Oligomeganephronia
Secundum atrial septal defect, Dehydration, Branchial cyst ORPHA:2260
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Thickened nuch... ORPHA:2437
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Bor Syndrome
Branchial cyst ORPHA:107
Holoprosencephaly
Encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Holoprosencephaly, Short ne... ORPHA:2162
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Myotonic Dystrophy 2
Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction OMIM:602668
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Depression, Right bundle branc... ORPHA:70591
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Atrial septal d... ORPHA:261330
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Short stature, Intraut... ORPHA:1393
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Chédiak-Higashi Syndrome
Edema, Pericardial effusion, Pleural effusion ORPHA:167
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont... ORPHA:466677
Iniencephaly
Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bi... ORPHA:63259
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pes cavus, Limited knee flexion/extension, Reduced left ventricular ejection fraction, Calf muscl... ORPHA:268
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Growth delay, Ventricular septal defect OMIM:614424
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec... ORPHA:93672
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Increased nuchal translucency, Growth delay, Abnormal heart morphology, Cystic... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Increased nuchal translucency, Growth delay, Abnormal heart morphology, Cystic... ORPHA:352665
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Chromosome 17P13.1 Deletion Syndrome
Broad neck, Webbed neck, Hydrocephalus, Spina bifida, Umbilical hernia, Short neck, Oligohydramnios OMIM:613776
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... OMIM:228520
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Hydrocephalus, Lymphedema, Ascites ORPHA:538
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Hydrocephalus, Short stature, Umbilical hernia, Bicuspid a... OMIM:130720
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Meningocele OMIM:620511
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Cardi... ORPHA:373
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Pa... ORPHA:261337
Lateral Meningocele Syndrome
Meningocele, Low posterior hairline, Umbilical hernia, Short neck, Ventricular septal defect ORPHA:2789
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Myocarditis, Conf... ORPHA:99827
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary arterial hypertension, Oste... OMIM:614008
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb sho... ORPHA:2839
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Arrhythmia, Myocardial infar... ORPHA:500
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Trisomy 18
Anencephaly, Webbed neck, Spina bifida, Short stature, Growth delay, Holoprosencephaly, Intrauter... ORPHA:3380
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Slender long bone OMIM:618590
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Transposition of the great arteries, Small plac... OMIM:256520
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy ORPHA:73224
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Vacterl With Hydrocephalus
Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:3412
Eisenmenger Syndrome
Right-to-left shunt, Atrial fibrillation, Elevated jugular venous pressure, Supraventricular arrh... ORPHA:97214
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,... ORPHA:508488
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... OMIM:208500
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Phakomatosis Pigmentokeratotica
Lymphedema, Spina bifida ORPHA:2874
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Patent foramen ovale, Short stature, Natal tooth, Right ventricular hypertrophy, ... OMIM:620186
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pericardial effusion ORPHA:91347
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Anencephaly, Hydrocephalus, Occipital meningocele, Short neck, A... OMIM:616546
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Limb Body Wall Complex
Ectopia cordis, Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydroceph... ORPHA:2369
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Gitelman Syndrome
Delayed puberty, Pericardial effusion ORPHA:358
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g... OMIM:306955
Trisomy 20P
Short neck, Low posterior hairline, Spina bifida, Umbilical hernia ORPHA:261318
Leopard Syndrome 1
Missing ribs, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Third degree a... OMIM:151100
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Patent ductus arteriosus ORPHA:861
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... OMIM:236680
Neu-Laxova Syndrome
Intrauterine growth retardation, Polyhydramnios, Spina bifida ORPHA:2671
Generalized Arterial Calcification Of Infancy
Hydrops fetalis, Polyhydramnios, Ventricular hypertrophy, Ascites, Pericardial effusion, Cardiome... ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Right bundle branch block, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Pulmonic stenosi... OMIM:617506
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Redundant neck skin, Meningocele, Rhizomelic ... ORPHA:397715
Focal Dermal Hypoplasia
Patent ductus arteriosus, Spina bifida, Umbilical hernia, Ventricular septal defect, Abnormal car... ORPHA:2092
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Camptodactyly, Hypertrophic cardiomyopathy, ... OMIM:617403
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Spina bifida, Short stature, Hypoplastic left... ORPHA:991
Fanconi Anemia
Abnormal aortic valve morphology, Patent ductus arteriosus, Hydrocephalus, Hypertrophic cardiomyo... ORPHA:84
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Knee flexion contracture, Right bundle branch block, Camptodactyly, Tricusp... OMIM:617402
22Q11.2 Deletion Syndrome
Tricuspid atresia, Polyhydramnios, Abnormal aortic valve morphology, Patent ductus arteriosus, Me... ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Spin... ORPHA:508498
Vater/Vacterl Association
Postnatal growth retardation, Occipital encephalocele, Transposition of the great arteries, Paten... OMIM:192350
Jacobsen Syndrome
Webbed neck, Spina bifida, Aortic valve stenosis, Short stature, Growth delay, Intrauterine growt... ORPHA:2308
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Cardiac rhabdomyoma, Hydrocephalus, Spina bifida OMIM:109400
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Hallermann-Streiff Syndrome
Natal tooth, Proportionate short stature, Spina bifida OMIM:234100
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Witteveen-Kolk Syndrome
Polyhydramnios, Short stature, Growth delay, Intrauterine growth retardation, Branchial fistula OMIM:613406
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Intrauterine growth reta... OMIM:113620
Orofaciodigital Syndrome Vi
Short stature, Occipital meningocele, Hypoplastic left heart OMIM:277170
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Perimembranous ventricular septal defect, Polyhydramnios, Spina bif... OMIM:180849
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Shor... OMIM:218330
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abn... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abn... ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida OMIM:619480
Charge Syndrome
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Pulmonic stenosis, Bilateral talipes equi... OMIM:214800
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Short stature, Spina bifida OMIM:162200
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Neonatal death, Oligohydramnios, Spina bifida OMIM:614437
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Patent ductus art... OMIM:164210
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Short stature, Patent ductus ... OMIM:134780
Knobloch Syndrome 1
Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Patent ductus arteriosus OMIM:267750
Pmm2-Cdg
Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Anasarca ORPHA:79318
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Marfan Syndrome
Meningocele, Tricuspid valve prolapse, Mitral valve prolapse, Mitral valve calcification ORPHA:558
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Occipital meningocele, Holoprosencephaly,... OMIM:610829
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormal heart morphology, Spina bifida ORPHA:322
Sotos Syndrome
Patent ductus arteriosus, Abnormal heart morphology, Umbilical hernia, Delayed eruption of perman... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Long foot OMIM:616831

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term dysplasia Setd2tm1b(NCOM)Mfgc HOM Early adult
Femur - MPATH pathological process term hyperostosis Setd2tm1b(NCOM)Mfgc HOM Early adult
Tibia - MPATH pathological process term hyperostosis Setd2tm1b(NCOM)Mfgc HOM Early adult

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 Setd2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2. The Journal of experimental medicine (April 2017) Setd2tm1c(NCOM)Mfgc Setd2tm1a(NCOM)Mfgc PMC5413324

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Setd2tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Setd2tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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