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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
short tibia Setd2tm1b(NCOM)Mfgc HOM Early adult 7.21×10-09
decreased prepulse inhibition Setd2tm1b(NCOM)Mfgc HOM   Early adult 3.26×10-07
decreased exploration in new environment Setd2tm1b(NCOM)Mfgc HOM   Early adult 8.85×10-05
prolonged QRS complex duration Setd2tm1b(NCOM)Mfgc HOM Early adult 1.96×10-05
increased grip strength Setd2tm1b(NCOM)Mfgc HOM   Early adult 9.82×10-05

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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 B FCS file(s)

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

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Histopathology

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Gross Pathology and Tissue Collection

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Immunophenotyping

Panel A FCS file(s)

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Eye Morphology

Images Ophthalmoscopy

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X-ray

XRay Images Skull Dorso Ventral Orientation

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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
Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Del... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Luscan-Lumish Syndrome
Long foot, Advanced ossification of carpal bones 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
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Fatigable weakness of skeletal muscles, Left ventricular systolic dysfunc... ORPHA:206559
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Meckel Syndrome, Type 8
Pericardial effusion, Short neck, Occipital encephalocele, Encephalocele OMIM:613885
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Congenital Heart Block
Intrauterine growth retardation, Oligohydramnios, Pleural effusion, Peripheral edema, Endocardial... ORPHA:60041
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Abnormality ... ORPHA:1041
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ven... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Hydrops fetalis, Growth delay, Chylopericardium, Pulmonic stenosis ORPHA:2414
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Scapuloperoneal myopathy, Knee flexion contracture, Achilles tendon co... OMIM:300695
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Leg muscle stiffness, Cardiomyopathy, Decreased patellar reflex, Fatigable weakness of distal lim... ORPHA:98912
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Lymphedema, Umbilical hernia, Pleural effusion, Mild postnatal growth ... OMIM:235510
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Congenital Disorder Of Glycosylation, Type Il
Ascites, Short neck, Atrial septal defect, Pericardial effusion, Hydrops fetalis OMIM:608776
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Atrial ... OMIM:115195
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Short stature, Atrial septal defect, Polyhydramnios... OMIM:620070
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Ventricular septal de... ORPHA:363705
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Atrial Septal Defect, Ostium Primum Type
Clubbing of toes, Fixed splitting of the second heart sound, Atrial flutter, Atrioventricular blo... ORPHA:99106
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S... OMIM:615583
Alkuraya-Kucinskas Syndrome
Webbed neck, Pleural effusion, Hydrocephalus, Pericardial effusion, Cystic hygroma, Edema OMIM:617822
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o... OMIM:607143
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Pedal edema, Systolic heart murmur, Right ventricular failure, ... ORPHA:99103
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Bent Bone Dysplasia Syndrome 2
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... OMIM:620076
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Muscle Filaminopathy
Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy ORPHA:171445
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Right ventricular car... OMIM:601214
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema ORPHA:90362
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis ORPHA:1131
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion ORPHA:36412
Congenital Enterovirus Infection
Fetal ascites, Cardiomyopathy, Pleural effusion, Myocarditis, Polyhydramnios, Hydrops fetalis, Pe... ORPHA:292
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Short attention span, Talipes, First degree atrioventricular block, Bradyphr... ORPHA:589821
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Glycogen Storage Disease Of Heart, Lethal Congenital
Anasarca, Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Periph... OMIM:261740
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... ORPHA:555874
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Low posterior hairline, Ventricular septal defect, ... ORPHA:2345
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Aicardi-Goutieres Syndrome 9
Ascites, Intrauterine growth retardation, Left ventricular hypertrophy, Pericardial effusion, Ede... OMIM:619487
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... OMIM:616300
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Talipes equinovarus, Short tibia, Short femur OMIM:620306
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Pediatric Systemic Lupus Erythematosus
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:93552
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Pleural effusion ORPHA:79126
Wildervanck Syndrome
Low posterior hairline, Webbed neck, Meningocele, Short neck ORPHA:3456
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... OMIM:618775
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Cognitive impairment OMIM:616479
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Distal lower limb muscle weakness, Calf muscle hypertrophy, Right bundle branch block, Achilles t... ORPHA:254361
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... OMIM:611134
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Alpha-Thalassemia
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion ORPHA:846
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Webbed neck, Mitral valve prolapse, Umbilical hernia ORPHA:536532
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
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
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Edema, Pericarditis OMIM:212065
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp... 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
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... ORPHA:96334
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Tricuspid ... OMIM:263520
Triploidy
Intrauterine growth retardation, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, P... ORPHA:3376
Alg9-Cdg
Rhizomelia, Abnormal heart morphology, Oligohydramnios, Ventricular septal defect, Low posterior ... ORPHA:79328
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Cystic hygroma, Meningocele, Anencephaly OMIM:603194
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Poems Syndrome
Ascites, Pericardial effusion, Pleural effusion, Edema ORPHA:2905
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Tibial Hemimelia
Absent tibia OMIM:275220
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Pe... ORPHA:26793
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... OMIM:164900
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Clinodactyly, Tricuspid regurgitation, Mitral regurgitation, Camptodactyly, Right bundle branch b... OMIM:619576
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... OMIM:617925
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pericardial effusion, Pleural effusion, Pedal edema ORPHA:199241
Diarrhea 10, Protein-Losing Enteropathy Type
Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Aymé-Gripp Syndrome
Postnatal growth retardation, Hydrocephalus, Pericardial effusion, Short stature, Patent ductus a... ORPHA:1272
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Hennekam Syndrome
Chylothorax, Delayed eruption of teeth, Lymphedema, Ascites, Mild postnatal growth retardation, P... ORPHA:2136
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Short neck, Spina bifida, Polyhydramnios, Edema OMIM:616038
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Delayed ... ORPHA:77261
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Intellectual Developmental Disorder, Autosomal Dominant 72
Short neck, Spina bifida OMIM:620439
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Short neck, Short stature, Spina bifida occult... ORPHA:2311
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Kaposiform Lymphangiomatosis
Pericardial effusion, Pleural effusion, Abnormality of the neck ORPHA:464329
Q Fever
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... ORPHA:781
Humero-Radial Synostosis
Meningocele ORPHA:3265
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Isolated Posterior Meningocele
Hydromyelia, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipit... ORPHA:268810
Mosaic Trisomy 9
Webbed neck, Abnormal heart valve morphology, Intrauterine growth retardation, Oligohydramnios, E... ORPHA:99776
Myhre Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Ventricular septal defect, Short neck, Bi... OMIM:139210
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Fountain Syndrome
Facial edema, Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Fabry Disease
Atrioventricular block, Depression, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle... ORPHA:324
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Aicardi-Goutieres Syndrome 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pericardial effusi... OMIM:615846
Marbach-Rustad Progeroid Syndrome
Micrognathia, Short clavicles, Femur fracture, Pulmonary insufficiency, Right bundle branch block OMIM:619322
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Dehydration ORPHA:2260
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Thickened nuchal skin fold, Dextrocardia, Spina bi... ORPHA:2437
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Bor Syndrome
Branchial cyst ORPHA:107
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... ORPHA:2162
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Myotonic Dystrophy 2
Premature ventricular contraction, Tachycardia, Palpitations, Right bundle branch block OMIM:602668
Chronic Thromboembolic Pulmonary Hypertension
Depression, Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-w... ORPHA:70591
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus... ORPHA:261330
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular sept... ORPHA:1393
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Chédiak-Higashi Syndrome
Pericardial effusion, Pleural effusion, Edema ORPHA:167
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Poly... ORPHA:63259
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limited knee flexion/extension, Abnormal EKG, Reduced left ventricular ejection fraction, Pes cav... ORPHA:268
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Chromosome 17P13.1 Deletion Syndrome
Webbed neck, Broad neck, Umbilical hernia, Oligohydramnios, Short neck, Spina bifida, Hydrocephalus OMIM:613776
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop... OMIM:228520
Lymphangioleiomyomatosis
Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium ORPHA:538
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Short neck, Hydrocephalus, Sh... OMIM:130720
Occipital Horn Syndrome
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... ORPHA:198
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact... ORPHA:373
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... OMIM:164745
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv... ORPHA:261337
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Low posterior hairline, Short neck, Meningocele ORPHA:2789
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Crimean-Congo Hemorrhagic Fever
Emotional lability, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, He... ORPHA:99827
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Sinus tachycardia, Micrognathia, Mitral regurgitation, Hypertension, Pulmonary... OMIM:614008
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ... ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Arrhythmia, Myocardial infarction, Pulmonic ste... ORPHA:500
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Trisomy 18
Webbed neck, Growth delay, Intrauterine growth retardation, Oligohydramnios, Ventricular septal d... ORPHA:3380
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Slender long bone OMIM:618590
Neu-Laxova Syndrome 1
Broad neck, Hydranencephaly, Generalized edema, Small placenta, Intrauterine growth retardation, ... 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
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Dilated cardiomyopathy, Pericardial effusion ORPHA:73224
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib... OMIM:200980
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Polyhydramnios, Aqueductal stenosis ORPHA:3412
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu... ORPHA:508488
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Intrauterine growth retardation, Patent foramen ovale, Atrial septal... OMIM:620186
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Delayed puberty ORPHA:91347
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Short neck, Hydrocephalus, Atrial septal defect, Polyhydramnios, Hydrops f... OMIM:616546
Campomelic Dysplasia
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... ORPHA:140
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Gitelman Syndrome
Pericardial effusion, Delayed puberty ORPHA:358
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Trisomy 20P
Low posterior hairline, Short neck, Spina bifida, Umbilical hernia ORPHA:261318
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Leopard Syndrome 1
Third degree atrioventricular block, Bundle branch block, Hypertrophic cardiomyopathy, Missing ri... OMIM:151100
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Neu-Laxova Syndrome
Polyhydramnios, Intrauterine growth retardation, Spina bifida ORPHA:2671
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Polyhydramnios, Cardiomegaly, Pericardial effusion, Hydrops fet... ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Right bundle branch b... OMIM:617506
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion OMIM:181000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Redundant neck ski... ORPHA:397715
Focal Dermal Hypoplasia
Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Pa... ORPHA:2092
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Hypertrophic cardiomyopathy, Talipes equinovarus, Hip dysplasia, Campto... OMIM:617403
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Short stature, Menin... ORPHA:991
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Hand clenching, Tricuspid regurgitation, Overlapping toe, Knee flexion cont... OMIM:617402
22Q11.2 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal pulmonary valve ... ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus... ORPHA:508498
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... OMIM:192350
Jacobsen Syndrome
Aortic valve stenosis, Webbed neck, Hypoplastic left heart, Intrauterine growth retardation, Vent... ORPHA:2308
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Proportionate short stature OMIM:234100
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Witteveen-Kolk Syndrome
Branchial fistula, Growth delay, Intrauterine growth retardation, Polyhydramnios, Short stature OMIM:613406
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h... OMIM:113620
Orofaciodigital Syndrome Vi
Short stature, Hypoplastic left heart, Occipital meningocele OMIM:277170
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Postnatal growth retardation, Polyhydramnios, Mitral valve prolapse, Vent... OMIM:180849
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ... OMIM:218330
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricular septal defec... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricular septal defec... ORPHA:363958
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida, Torticollis OMIM:619480
Charge Syndrome
Bifid femur, Short thumb, Micrognathia, Down-sloping shoulders, Hand polydactyly, Absent tibia, H... OMIM:214800
Neurofibromatosis, Type I
Short stature, Aqueductal stenosis, Spina bifida, Hydrocephalus OMIM:162200
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Oligohydramnios, Spina bifida, Neonatal death OMIM:614437
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Ventricular septal defect, Spina bifida, Short stature, Patent... OMIM:134780
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele OMIM:267750
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis ORPHA:79318
Arima Syndrome
Occipital meningocele, Growth delay OMIM:243910
Marfan Syndrome
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Holoprosencephaly 9
Alobar holoprosencephaly, Short neck, Hydrocephalus, Short stature, Holoprosencephaly, Occipital ... OMIM:610829
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Sotos Syndrome
Umbilical hernia, Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Del... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Luscan-Lumish Syndrome
Long foot, Advanced ossification of carpal bones 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
Tibia - MPATH pathological process term hyperostosis Setd2tm1b(NCOM)Mfgc HOM Early adult
Eye - MPATH pathological process term dysplasia Setd2tm1b(NCOM)Mfgc HOM Early adult
Femur - 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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