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Gene: Speg MGI:109282

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Gene Summary

Name:
SPEG complex locus
Synonyms:
Apeg1,  BPEG,  D1Bwg1450e,  SPEGbeta,  SPEG,  SPEGalpha

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
increased basophil cell number Spegtm1b(KOMP)Wtsi HET Early adult 4.71×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Speg 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 Speg by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Mitral regurgitation OMIM:615959
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Left ventricular hypertrophy ORPHA:169186

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega... OMIM:115197
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral re... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... OMIM:619313
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack,... ORPHA:99104
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Immunodeficiency 88
Eosinophilia OMIM:619630
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Pulmonary hypoplasia, Ventricular septal defect OMIM:615524
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Hypertension, Left atrial enlargement, Pulmonary arteria... OMIM:614008
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death OMIM:619003
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect OMIM:619170
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Pal... ORPHA:2847
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Scimitar Syndrome
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Patent ductus ar... ORPHA:185
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali... OMIM:615415
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri... OMIM:252920
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower r... OMIM:253250
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Tachycardia, Patent ductus arteriosus, Systolic heart murm... ORPHA:980
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Pleural effusion, Splenomegaly, Cardiomegaly, Telangiec... OMIM:235200
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Pulmonary hypoplasia OMIM:616733
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... OMIM:300280
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous v... OMIM:620642
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Serkal Syndrome
Pulmonary hypoplasia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery atresia, Congestive heart failure,... ORPHA:99050
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Transposition of the great arteries, Dextrocardia,... OMIM:314390
Meacham Syndrome
Hypoplastic left heart, Pulmonary hypoplasia, Tetralogy of Fallot, Scimitar anomaly, Congenital a... OMIM:608978
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function ORPHA:229
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Pulmonary hypoplasia OMIM:300978
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... ORPHA:3427
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Cantu Syndrome
Congenital hypertrophy of left ventricle, Cardiomegaly, Bicuspid aortic valve, Pericardial effusi... OMIM:239850
Truncus Arteriosus
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Patent ductus arte... ORPHA:3384
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Agenesis of pulmonary vessels, Tetralogy of Fallot, Alveolar capillary d... OMIM:601186
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Congestive heart failure, Patent foramen ovale, Pa... OMIM:616866
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Nephronophthisis 2
Situs inversus totalis, Pulmonary insufficiency, Hypertension, Enlarged kidney, Pulmonary hypoplasia OMIM:602088
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR interval, Cardiomegaly, Le... ORPHA:308552
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega... OMIM:201475
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Pulmonary... OMIM:616897
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia ORPHA:42
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Thanatophoric Dysplasia
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Kagami-Ogata Syndrome
Splenomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect, H... OMIM:608149
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia, Neonatal death OMIM:615228
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Glycogen Storage Disease Ii
Sinus tachycardia, Pleural effusion, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachn... OMIM:232300
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia ORPHA:79321
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect OMIM:617895
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Pulmonary hypoplasia, Ventricular septal defect OMIM:617022
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Right bundle branch block... ORPHA:268
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Ventricular septal defect, Atrial septal de... ORPHA:1335
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Ventricular septal defect, Pul... OMIM:611812
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomyopathy OMIM:105210
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Pu... OMIM:614921
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:145420
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Pulmonary hypoplasia, Biventricular hypertrop... OMIM:618280
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Arrhyt... ORPHA:465508
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension OMIM:268800
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Hepatomegaly, Pulmonary hypoplasia OMIM:608013
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Thoracoabdominal Syndrome
Transposition of the great arteries, Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia OMIM:313850
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Distal Triplication 15Q
Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia ORPHA:314588
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Pulmonary hypoplasia, Situs inversus totalis, Portal hypertension, Splenom... OMIM:208540
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal de... ORPHA:79330
Alg9-Cdg
Pulmonary hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tricuspid regurgitation,... ORPHA:79328
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:245650
Mosaic Trisomy 16
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Abnormal lung morphol... ORPHA:1708
Renal Agenesis
Pulmonary hypoplasia, Hypertension, Ventricular septal defect ORPHA:411709
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Pulmonary hypoplasia ORPHA:1865
Czeizel-Losonci Syndrome
Dextrocardia, Pulmonary hypoplasia ORPHA:2437
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Marden-Walker Syndrome
Dextrocardia, Pulmonary hypoplasia OMIM:248700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block ORPHA:228308
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Facial telangiectasia, Splenomegaly, Mitral valve prolapse, Ventricular septa... OMIM:602782
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Pneumothorax, Single ventricle, Pulmonary hypoplasia OMIM:619879
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Ventricular septal defect OMIM:615503
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorrhag... OMIM:608836
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia, Ventricular septal defect OMIM:612530
Oligomeganephronia
Hypertension, Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Atelectasis, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Recurrent r... OMIM:618278
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Mucosal telangiectasiae ORPHA:2463
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormality of the p... ORPHA:991
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Tricuspid regurgitation, Emphysema, Neona... OMIM:614437
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Genitopatellar Syndrome
Atrial septal defect, Pulmonary hypoplasia ORPHA:85201
Short-Rib Thoracic Dysplasia 12
Atelectasis, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Neonatal death, Hepat... OMIM:269860
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Hypertrophic cardiomyopathy, Transient ischemic attack, Respiratory trac... ORPHA:365
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Pulmonary hypoplasia, Stillbirth, Abnormal cardiac septum morphology, Single ventricle OMIM:308050
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Stillbirth OMIM:256050
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonic stenosis, Pulmonary hypoplasia OMIM:619148
Fryns Syndrome
Tetralogy of Fallot, Abnormal cardiac septum morphology, Pulmonary hypoplasia ORPHA:2059
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Mucopolysaccharidosis Type 3
Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Splenom... ORPHA:581
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Patent foramen... OMIM:613177
Fucosidosis
Cardiomegaly, Hepatomegaly, Recurrent respiratory infections, Splenomegaly OMIM:230000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect ORPHA:96191
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Ce... OMIM:620371
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Ventricular septal defect, Aortopulmonary window, Pulmonary arterial... OMIM:620025
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Recurrent pneumonia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:252500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Atrial septal defect, Pulmonary hypoplasia OMIM:614080
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia, Ventricular septal defect ORPHA:1692
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Pulmonary hypoplasia ORPHA:2990
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Second degree atrioventricular block, Complete atrioventricular canal defec... OMIM:617063
Distal Deletion 15Q
Hypoplastic left heart, Double outlet right ventricle with doubly committed ventricular septal de... ORPHA:1596
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Mitral regurgitation OMIM:615959
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:263520
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia, Stillbirth, Neonatal death OMIM:236500
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Abnormal cardiac septum morphology, Pulmonary hypoplasia ORPHA:90652
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Arrhythmia... OMIM:300855
Bohring-Opitz Syndrome
Cardiomegaly, Recurrent respiratory infections, Abnormal cardiac septum morphology, Bradycardia ORPHA:97297
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia OMIM:616546
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Pulmonary hypoplasia, Patent ductus arteriosus, Ventricular septal defect OMIM:214100
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death OMIM:253310
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Pulmonary hypoplasia, Complete atrioventricular canal defect, Neonatal death OMIM:617925
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Splenomegaly, Neonatal death, Hematemesis, Hepatomegaly, Hypertension, Enlar... OMIM:263200
Tarp Syndrome
Tetralogy of Fallot, Atrial septal defect, Pulmonary hypoplasia ORPHA:2886
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Esophageal Atresia
Bronchitis, Tetralogy of Fallot, Ventricular septal defect, Recurrent respiratory infections, Pul... ORPHA:1199
Fontaine Progeroid Syndrome
Abnormal heart morphology, Tricuspid regurgitation, Neonatal death, Bicuspid aortic valve, Left v... OMIM:612289
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly, Congestive heart failure ORPHA:14
Fryns Syndrome
Chylothorax, Ventricular septal defect, Atrial septal defect, Stillbirth, Pulmonary hypoplasia OMIM:229850
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pulmonary hypoplasia, Neonatal death OMIM:231680
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia, Neonatal death OMIM:187600
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Atrial septal defect, Pulmonic stenosis, ... ORPHA:536471
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Neonatal death OMIM:224410
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Repeated pneumothoraces, Mitral valve prolapse, Pulmonary hypoplasia ORPHA:536467
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Heart murmur, Recurrent respiratory in... ORPHA:3309
Penile Agenesis
Pulmonary hypoplasia, Bilateral lung agenesis, Atrial septal defect, Ventricular septal defect ORPHA:49
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis OMIM:620376
Neu-Laxova Syndrome 1
Patent foramen ovale, Neonatal death, Ventricular septal defect, Transposition of the great arter... OMIM:256520
Viss Syndrome
Coronary sinus enlargement, Pulmonary artery aneurysm, Emphysema, Right ventricular hypertrophy, ... OMIM:619472
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Raynaud phenomenon ORPHA:51
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Pleural effusion, Ca... OMIM:182250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Stillbirth OMIM:151210
Liver Disease, Severe Congenital
Pneumonia, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular ... OMIM:619991
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Congestive heart failure, Splenomegaly, Recurrent s... OMIM:256040
Restrictive Dermopathy 1
Neonatal death, Atrial septal defect, Stillbirth, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:275210
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d... ORPHA:818
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Diaphanospondylodysostosis
Enlarged kidney, Pulmonary hypoplasia OMIM:608022
Tetrasomy 9P
Pulmonary hypoplasia, Patent foramen ovale, Abnormal mitral valve morphology, Pulmonary arterial ... ORPHA:3310
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Hypertrophic cardiomyopathy, Splenomegaly, Ventricular septal defect, Atr... OMIM:270400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Patent ductus arteriosus, Stillbirth OMIM:616300
Restrictive Dermopathy
Transposition of the great arteries, Atrial septal defect, Dextrocardia, Patent ductus arteriosus... ORPHA:1662
Meckel Syndrome, Type 1
Splenomegaly, Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonary hypoplasia OMIM:249000
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov... ORPHA:904
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Neonatal death OMIM:251230
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Renal Tubular Dysgenesis
Hypotension, Pulmonary hypoplasia OMIM:267430
Schinzel-Giedion Syndrome
Abnormal heart morphology, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Fraser Syndrome 1
Abnormal heart morphology, Pulmonary hypoplasia OMIM:219000
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged ki... ORPHA:116
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Perimembranous ventricular septal defect, Pulmonary hypoplasia ORPHA:83617
Caudal Regression Syndrome
Hypertension, Pulmonary hypoplasia ORPHA:3027
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Ventricular septal defect, Pulmonary artery sten... ORPHA:96334
Greenberg Dysplasia
Abnormal lung lobation, Hepatosplenomegaly, Neonatal death, Stillbirth, Hepatomegaly, Pulmonary h... OMIM:215140
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Elevated pulmonary artery pressure, Patent ductus arteriosus, Pulmonary hypo... OMIM:619351
Osteogenesis Imperfecta
Aortic regurgitation, Mitral valve prolapse, Abnormal endocardium morphology, Cerebral hemorrhage... ORPHA:666
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Achondrogenesis, Type Ia
Pulmonary hypoplasia, Stillbirth OMIM:200600
Congenital Myopathy 22B, Severe Fetal
Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Enlarged kidney, Pulmonary hypoplasia OMIM:200995
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Genitopatellar Syndrome
Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:606170
Raine Syndrome
Pulmonary hypoplasia, Neonatal death OMIM:259775
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recurrent pneumonia, Hepatosplenomegaly, P... ORPHA:731
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Intracranial hemorrhage, Pulmonary hypoplasia ORPHA:86309
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Joubert Syndrome 21
Splenomegaly, Pulmonary hypoplasia OMIM:615636
Pallister-Killian Syndrome
Aortic valve stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defe... OMIM:601803
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:2753
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Autosomal Recessive Centronuclear Myopathy
Abnormal heart valve morphology, Left ventricular hypertrophy ORPHA:169186
Craniofacial Microsomia 1
Tetralogy of Fallot, Pulmonary hypoplasia, Patent ductus arteriosus, Ventricular septal defect OMIM:164210
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia, Stillbirth OMIM:208150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Pulmonary hypoplasia OMIM:309800
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Fraser Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2052
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia ORPHA:93271

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Speg

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 Speg.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads. Communications biology (September 2023) Spegtm1a(KOMP)Wtsi PMC10502019
Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation. Circulation (July 2020) Spegtm1c(KOMP)Wtsi PMC7508800
SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity. Circulation research (October 2016) Spegtm1c(KOMP)Wtsi Spegtm1a(KOMP)Wtsi PMC5218854

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Spegtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Spegtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Spegtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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