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Gene: Ubr7 MGI:1913872

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Gene Summary

Name:
ubiquitin protein ligase E3 component n-recognin 7 (putative)
Synonyms:
5730410I19Rik

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
improved glucose tolerance Ubr7em1(IMPC)Tcp HOM Early adult 3.60×10-09
shortened RR interval Ubr7em1(IMPC)Tcp HOM Early adult 2.25×10-09
increased heart rate Ubr7em1(IMPC)Tcp HOM Early adult 2.07×10-13
decreased mean corpuscular hemoglobin Ubr7em1(IMPC)Tcp HOM Early adult 7.45×10-05
increased startle reflex Ubr7em1(IMPC)Tcp HOM Early adult 2.48×10-08
short tibia Ubr7em1(IMPC)Tcp HOM   Early adult 8.66×10-06
decreased circulating serum albumin level Ubr7em1(IMPC)Tcp HOM Early adult 5.56×10-06
abnormal retina vasculature morphology Ubr7em1(IMPC)Tcp HOM Early adult 2.36×10-05
abnormal retina blood vessel morphology Ubr7em1(IMPC)Tcp HOM Early adult 1.76×10-05

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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.

Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

101 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Ubr7 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 Ubr7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Li-Campeau Syndrome
Patellar hypoplasia OMIM:619189

The table below shows human diseases predicted to be associated to Ubr7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palmoplantar keratoderma, Syncope, Palpit... OMIM:610476
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... ORPHA:324575
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, F... ORPHA:276580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, Palmoplantar ke... OMIM:611528
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level... ORPHA:276575
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Leber Hereditary Optic Neuropathy
Postural tremor, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascul... ORPHA:104
Primary Membranoproliferative Glomerulonephritis
Drusen, Hypertension, Hypoalbuminemia, Myocardial infarction ORPHA:54370
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid ... ORPHA:276556
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:276608
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... OMIM:610947
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction, Aplasia/Hypoplasia of the distal phalang... OMIM:192445
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Diarrhea 13
Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Alg6-Cdg
Decreased LDL cholesterol concentration, Shortening of all distal phalanges of the fingers, Hypoa... ORPHA:79320
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... OMIM:616050
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:255100
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Hypoalbuminemia, Pedal edema ORPHA:84090
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Hypertension, Anemia OMIM:184850
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart fail... ORPHA:49827
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilated cardiomy... ORPHA:563
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... ORPHA:263297
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent... OMIM:617021
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, ... OMIM:209950
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Optic disc pallor, Tachycardia, Tremor, Retrobulbar optic neuritis, Hyperglycemia OMIM:619737
Variegate Porphyria
Tachycardia OMIM:176200
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Hypoalbuminemia, Microcytic anemia OMIM:618805
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Distal lower limb muscle weakness, Pes cavus, Hypoalbuminemia ORPHA:94124
Coproporphyria, Hereditary
Splenomegaly, Tachycardia, Hypertension OMIM:121300
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... OMIM:171420
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tac... OMIM:212138
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, B lymphocytopenia, Decreased circulating ... OMIM:241600
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Pes cavus, Hypoalbuminemia OMIM:607250
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... OMIM:600649
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Budd-... OMIM:226300
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... ORPHA:75565
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:91547
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul... ORPHA:103910
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... OMIM:226990
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... OMIM:208920
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Fasting hyp... ORPHA:263455
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia OMIM:619013
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia ... OMIM:607143
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... ORPHA:507
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Dilated cardiomyopathy, Hypoa... OMIM:616730
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Cutaneous s... OMIM:601005
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Hypokalemia OMIM:613239
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Metaphyseal widening, Optic atrophy, Clubbing, Congestive heart f... OMIM:617303
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, ... ORPHA:2070
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus, Hypertensi... ORPHA:3299
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... ORPHA:449285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia OMIM:258865
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hypokalemia, Palpitations OMIM:188580
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Palmoplantar keratoderma, Paroxys... ORPHA:34217
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ... ORPHA:2298
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... ORPHA:158061
Congenital Enterovirus Infection
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Ca... ORPHA:292
Mpi-Cdg
Gastrointestinal hemorrhage, Hypoalbuminemia, Portal hypertension, Hyperinsulinemic hypoglycemia ORPHA:79319
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, Eleva... OMIM:616878
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level ORPHA:264675
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... OMIM:300257
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... ORPHA:85443
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes equinovarus, Camp... OMIM:608104
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... OMIM:616267
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia... ORPHA:1667
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia ORPHA:79327
Andersen-Tawil Syndrome
Prolonged QT interval, Ventricular arrhythmia, Bidirectional ventricular ectopy, Micrognathia, Po... ORPHA:37553
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Anemia, Leukopenia... ORPHA:64743
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin ORPHA:90036
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct... ORPHA:356961
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Portal hypertension, Optic atrophy, Chorioretinal atrophy, Hepato... OMIM:619487
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Ménétrier Disease
Gastrointestinal hemorrhage, Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Pheochromocytoma
Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu... OMIM:171300
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Interphalangeal thumb joint contracture, Tachycardia, Tapered finger OMIM:613870
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Tapered finger, Long fingers, Atrioventricular block, Glucose intoler... OMIM:614407
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Anemia ORPHA:79273
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... OMIM:603553
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Abnormality of the lower ... ORPHA:36234
Mercury Poisoning
Tachycardia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia ORPHA:330021
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes e... OMIM:620306
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tachycardia, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, S... ORPHA:485405
Carnitine-Acylcarnitine Translocase Deficiency
Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Ventri... ORPHA:159
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c... ORPHA:368
Congenital Analbuminemia
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hyper... ORPHA:86816
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Tularemia
Thrombocytopenia, Leukocytosis, Tachycardia, Anemia ORPHA:3392
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Abetalipoproteinemia
Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholesterol concentration, Ac... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, H... OMIM:618329
Congenital Fibrinogen Deficiency
Tachycardia, Splenic rupture, Opisthotonus, Clubbing of fingers, Internal hemorrhage ORPHA:335
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
S-Adenosylhomocysteine Hydrolase Deficiency
Pes planus, Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine... ORPHA:88618
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... ORPHA:137675
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Hypertensive crisis, Oculogyric crisis, Elevated circulating creatine ... ORPHA:94093
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Cong... ORPHA:505248
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... OMIM:613327
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Alg12-Cdg
Hyponatremia, Retinal detachment, Sandal gap, Proximal placement of thumb, Micrognathia, Long fin... ORPHA:79324
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow... ORPHA:860
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Reni Syndrome
Lymphopenia, Hypoglycemia, Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... ORPHA:542306
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... ORPHA:540
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Juvenile Polyposis Syndrome
Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... OMIM:251880
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatosplenomegaly, Hypoal... ORPHA:367
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Pa... OMIM:242150
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension ORPHA:79155
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... ORPHA:90362
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbi... ORPHA:348
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... ORPHA:1988
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Seckel Syndrome 10
Microretrognathia, Retinal detachment, Diabetes mellitus, Impaired glucose tolerance, Elevated he... OMIM:617253
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Optic atrophy, Hyperammonemia, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic... OMIM:614702
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... ORPHA:99826
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Tremor, Cardiomyopathy, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Rod-c... OMIM:212065
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Normochromic anemia, Hypoalbuminemia, Intention tremor, Thrombocytopenia, Action... OMIM:254900
Wilson Disease
Hemolytic anemia, Dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Trem... OMIM:277900
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Xfe Progeroid Syndrome
Optic atrophy, Hypertension, Hypoalbuminemia, Pes cavus, Attenuation of retinal blood vessels OMIM:610965
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Gastrointestinal hemorrhage, Abnormal retinal vascul... ORPHA:247691
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Leukocytosis, Hypoalbuminemia, Constrictive pericarditis, Anemia ORPHA:67
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
High Altitude Pulmonary Edema
Leukocytosis, Tachycardia ORPHA:330012
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Hy... ORPHA:848
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... ORPHA:173
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Hematochezia, Melena, Clubbing of fingers, Midcla... ORPHA:79076
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentration, Sudden cardiac dea... OMIM:614921
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia OMIM:229700
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia OMIM:614441
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Sepsis In Premature Infants
Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, A... ORPHA:90051
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Palmoplantar keratoderma, Ventricular tachycardia, Syncope OMIM:615821
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Abnorma... ORPHA:40366
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Iron... ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Hy... OMIM:619055
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:263520
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Dilated cardiomyopathy, Anemia, Decreased circulating carnitine concentrati... ORPHA:89842
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbu... OMIM:617156
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... ORPHA:2751
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Anemia ORPHA:79473
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Galloway-Mowat Syndrome 1
Dystonia, Micrognathia, Optic atrophy, Hypoalbuminemia, Talipes equinovarus, Camptodactyly, Hand ... OMIM:251300
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Premature ventricula... ORPHA:423
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Acromelic Frontonasal Dysostosis
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... OMIM:603671
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia OMIM:617093
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoplastic iliac wing, Small hand, Short foot, Cutaneous finger syndactyly, Hypoalbuminemia, Tal... OMIM:235510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... ORPHA:96334
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Increased mean platelet volume, Avascular necrosis of the capital femoral e... OMIM:222470
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Hypertension, Talipes equinovarus, Bradycardia, Hand clenching OMIM:614653
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Tachycardia, Generalized dystonia, Dilated cardiomyopathy, Dystonia OMIM:618321
Autoimmune Hypoparathyroidism
Prolonged QT interval, Abnormal left ventricular function, Hypocalcemic seizures, Hyperphosphatem... ORPHA:36913
Galloway-Mowat Syndrome 3
Arachnodactyly, Micrognathia, Hip dislocation, Hypertension, Hypoalbuminemia, Camptodactyly OMIM:617729
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, ... OMIM:612561
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Sandal gap, Short toe, Pulmonic stenosis, Clinodactyly of the 5th finger, Arrhy... OMIM:617877
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy, Absent Achilles reflex, Ankle clo... OMIM:609541
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Impaired glucose tolerance, Elevated circulating creatine kinase concentration, Left bundle branc... OMIM:610131
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hy... OMIM:618183
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... OMIM:270400
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Serotonin Syndrome
Tremor, Hypertension, Tachycardia, Hypotension ORPHA:43116
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis OMIM:615508
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia ORPHA:139411
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Elevated circulating creatine kinase concentration, Camptodactyly of finger, Ankle flexion contra... OMIM:617072
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Hyperthyroidism, Nonautoimmune
Tachycardia, Increased circulating thyroglobulin level OMIM:609152
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Elevated circulating creatinine concent... ORPHA:340
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Short metatarsal, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Pro... OMIM:170390
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis ORPHA:3426
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Familial Dysautonomia
Hyponatremia, Orthostatic hypotension, Tachycardia, Optic atrophy, Hypertension ORPHA:1764
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... ORPHA:31826
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar hyperkera... OMIM:605676
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hyperlipidemia, Pedal edema, Hypertension, Hypoalbuminemia ORPHA:567546
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia OMIM:300946
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction, Micrognathia ORPHA:1964
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98855
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Anemia ORPHA:71273
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Hyporeflexia of lower limbs, Pes ... ORPHA:320406
Graft Versus Host Disease
Tachycardia, Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Micrognathia OMIM:619074
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No... OMIM:618775
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... ORPHA:186
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... ORPHA:423479
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Abnormal atriov... ORPHA:280365
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral regurgitation, Exaggerated startle response, Hepatosplenome... ORPHA:309155
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Splenomegaly, Congestive ... ORPHA:171
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98853
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... OMIM:263800
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Flattened femoral... ORPHA:79255
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98863
Acute Intermittent Porphyria
Tremor, Hypertension, Tachycardia, Hyponatremia ORPHA:79276
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaph... OMIM:260400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unconjugated hype... OMIM:613658
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Micrognathia, Ventricular tachycardia, Iron defici... OMIM:300855
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Necrotizing Enterocolitis
Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose homeos... ORPHA:391673
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Micrognathia, Microcytic anemia, Short toe, Talipes equinovarus, HbH hemoglobin ORPHA:98791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat... OMIM:253800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Hypoalbuminemia, Anemia ORPHA:79396
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Pedal e... ORPHA:980
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Aplasia/Hypoplasia of the sternum, Tricuspid sten... ORPHA:1686
Tibial Hemimelia
Absent tibia OMIM:275220
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Optic atrophy, H... OMIM:617301
Degcags Syndrome
Syndactyly, Pancytopenia, Toe syndactyly, Tachycardia, Congenital hypoplastic anemia, Micrognathi... OMIM:619488
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Atrial fibrillation, Diabetes mellitus, Elevated circulating creatine kinase conc... ORPHA:254892
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Tre... ORPHA:845
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Syndactyly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... OMIM:619534
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... ORPHA:521426
Diamond-Blackfan Anemia 1
11 pairs of ribs, Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Micrognat... OMIM:105650
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Prolonged QT interval, Tachycardia, Micrognathia, Short metatarsal, Short 4th meta... ORPHA:1772
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Shortened PR int... ORPHA:79102
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Exaggerated startle response, Hepatosplen... OMIM:268800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ankle clonus, Exaggerated startle response, Overlapping toe OMIM:618598
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy OMIM:616881
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid hypoplasia, ... ORPHA:124
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge... OMIM:617527
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Clinodactyly of the 5th finger, Exaggerated startle response, Tremor, Truncal titubation OMIM:618056
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Micrognathia OMIM:617101
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Optic atrophy, Talipes equinovarus, Clinodactyly of the 5th finger, Anemia, ... ORPHA:847
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Micrognathia, Tremor, Large hands, Long foo... OMIM:615574
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Absent frontal sinuses, Coxa valga, Reduced alpha/beta synthesis ratio, Hypochrom... OMIM:301040
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Hypoplasia of the thymus, Pul... ORPHA:3384
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Eosinophilia, Portal hypertension, Hyper... ORPHA:797
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Congestive heart failure, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly,... OMIM:181270
Pmm2-Cdg
Pes planus, Pericarditis, Angina pectoris, Long fingers, Insulin resistance, Reduced thyroxin-bin... ORPHA:79318
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... OMIM:218330
Marshall-Smith Syndrome
Microretrognathia, Hallux valgus, Optic nerve hypoplasia, Bullet-shaped middle phalanges of the h... OMIM:602535
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Plague
Tachycardia, Hematemesis, Splenomegaly, Hypotension, Arrhythmia ORPHA:707
Legius Syndrome
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmo... ORPHA:137605
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Pigmentary retinopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, 2-3 toe syndactyly OMIM:618280
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Tremor, Congestive heart failure, Hypertension, Hypokalemia, Palpita... ORPHA:91347
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Tapered finger OMIM:618367
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Decreased serum iron, Hip dysplasia, Pulmonic st... ORPHA:438213
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Congestive heart failure, Small hand, Fibular hypoplasia, Hypoplasia of proximal ra... ORPHA:444077
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge... OMIM:619522
Li-Campeau Syndrome
Patellar hypoplasia OMIM:619189

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 Ubr7

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 Ubr7.

No publications found that use IMPC mice or data for Ubr7.

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
Ubr7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ubr7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ubr7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ubr7em1(IMPC)Tcp Insertion, Intragenic deletion Mice

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