Gene Summary

Name:
SH3 domain and tetratricopeptide repeats 1
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 monocyte cell number Sh3tc1tm1b(EUCOMM)Hmgu HOM Early adult 1.34×10-08
decreased grip strength Sh3tc1tm1b(EUCOMM)Hmgu HOM   Early adult 1.62×10-06
increased neutrophil cell number Sh3tc1tm1b(EUCOMM)Hmgu HOM Early adult 1.58×10-08
decreased cardiac muscle contractility Sh3tc1tm1b(EUCOMM)Hmgu HOM Early adult 2.09×10-05
abnormal vitreous body morphology Sh3tc1tm1b(EUCOMM)Hmgu HOM Early adult 1.34×10-05
decreased circulating triglyceride level Sh3tc1tm1b(EUCOMM)Hmgu HOM Early adult 9.88×10-06
prolonged ST segment Sh3tc1tm1b(EUCOMM)Hmgu HOM   Early adult 1.85×10-05
prolonged QT interval Sh3tc1tm1b(EUCOMM)Hmgu HOM Early adult 3.76×10-05
increased circulating bilirubin level Sh3tc1tm1b(EUCOMM)Hmgu HOM Early adult 2.14×10-07

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Sh3tc1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sh3tc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Anem... OMIM:613673
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Normochromic microc... OMIM:610198
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST segment depression, Hypertension, Myocard... ORPHA:90065
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de ... ORPHA:90647
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Tropical Endomyocardial Fibrosis
P pulmonale, Atrial flutter, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Eosinophi... ORPHA:75565
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Increased circulating troponin I concentratio... OMIM:619040
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Nathalie Syndrome
Abnormal EKG OMIM:255990
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Drug-Induced Lupus Erythematosus
Pericarditis, Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive pr... ORPHA:231111
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Prolonged QT interval OMIM:615351
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Sp... ORPHA:90037
Timothy Syndrome
Hypocalcemia, Bradycardia, Prolonged QT interval OMIM:601005
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation ORPHA:94125
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Pr... ORPHA:36913
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased total bilirubin, Bradycardia OMIM:616299
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Elevated circulating creatine kinase concentration, Ve... ORPHA:26793
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Pigmentary retino... ORPHA:71212
Trimethylaminuria
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Relapsing Fever
Increased total bilirubin, Leukocytosis, Hypotension, Elevated circulating creatinine concentrati... ORPHA:91547
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Elevated circulating glutaric acid concentration, Prolonged QT int... ORPHA:66634
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Hypertriglyceridemia, Tachycardia, Prolonged QT interval, Splenomegaly, Elev... OMIM:613327
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Melen... ORPHA:98870
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prominent U wave, Bidirectional ventricular ectopy, Hypokalemia, Prolonged QT inter... OMIM:170390
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Congestive heart failure, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Elevated circulating acylcarnitine concentration, Prolonged QT interval, Elevated cir... ORPHA:480864
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Tachycardia ORPHA:90036
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular tachycardia, Ventricular fibrillation, Elevated circulating acylcarnitine concentrati... OMIM:616878
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Increased cir... ORPHA:466677
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Hyperuricemia, Reduced erythrocyte ... OMIM:232800
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia, Neutropenia OMIM:616949
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage ORPHA:2924
Gitelman Syndrome
Iron deficiency anemia, Palpitations, Hypocalcemia, Hypermagnesemia, Primary hyperaldosteronism, ... ORPHA:358
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Thr... ORPHA:466650
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Thyrotoxic Periodic Paralysis
Palpitations, Mildly elevated creatine kinase, Transient hypophosphatemia, Ventricular fibrillati... ORPHA:79102
Gitelman Syndrome
Palpitations, Hypotension, Increased circulating renin level, Ventricular tachycardia, Hypokalemi... OMIM:263800
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... ORPHA:31826
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Congestive heart ... OMIM:310200
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Refractory Anemia
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... ORPHA:98826
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Hypoalbumin... ORPHA:1667
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly, Portal hypertension OMIM:251880
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Hypocholesterolemia, Steatorrhea, Splenomegaly OMIM:607765
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Reynolds Syndrome
Gastrointestinal hemorrhage, Lip telangiectasia, Hyperbilirubinemia, Steatorrhea, Calcinosis, Pal... OMIM:613471
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum i... OMIM:604250
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:231625
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I,... OMIM:615745
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, St... ORPHA:14
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly, Tachycardia ORPHA:39812
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Optic atrophy OMIM:606812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalc... ORPHA:79444
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia, Shock OMIM:600351
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Hardikar Syndrome
Portal hypertension, Hyperbilirubinemia, Pigmentary retinopathy, Splenomegaly OMIM:612726
Caroli Syndrome
Hematemesis, Leukocytosis, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Melena, Thrombocyto... ORPHA:480520
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Antenatal intracerebral hemorrhage, Arrhythmia, Decreased plasma total... OMIM:608836
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hypertension, Calcinosis, Prolonged QT interval, Hyperphosphat... ORPHA:79443
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia, Epistaxis OMIM:616216
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Tachycardia, Hyperuricemia ORPHA:348
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Friedreich Ataxia
Abnormal echocardiogram, Congestive heart failure, Optic atrophy, Abnormal EKG, Hypertrophic card... OMIM:229300
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Hepatocellular Carcinoma
Thrombocytosis, Internal hemorrhage, Hypotension, Polycythemia, Budd-Chiari syndrome, Hyponatremi... ORPHA:88673
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Epistaxis ORPHA:293939
Autoimmune Hepatitis
Increased total bilirubin, Spider hemangioma, Gastrointestinal hemorrhage, Splenomegaly ORPHA:2137
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Porta... ORPHA:567983
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Bradycardia, Increased circulating thyroglobulin level ORPHA:90673
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... ORPHA:230
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
17Q24.2 Microdeletion Syndrome
Pulmonic stenosis, Prolonged QT interval ORPHA:529962
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Polysplenia, Prolonged QT interval, Splenomegaly, Cardiomyopathy ORPHA:373
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia, Brad... ORPHA:90674
Caroli Disease
Leukocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Portal hypertension, Liver abscess ORPHA:53035
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Mirizzi Syndrome
Hyperbilirubinemia, Tachycardia ORPHA:521219
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly,... ORPHA:3226
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Intracranial hemorrhage, Hyperbilirubinemia, Thrombocytopenia, Heart murmur, Anemia ORPHA:163979
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Normocytic anemia, Throm... ORPHA:98849
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorr... ORPHA:88
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Primary Parathyroid Hyperplasia
Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:99878
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Abnormal circulating lipid concentration, Splenomegaly, Elevated circ... ORPHA:829
Lathosterolosis
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Increased mean platelet volum... OMIM:607330
Congenital Sialidosis Type 2
Hepatosplenomegaly, Telangiectasia, Abnormal EKG, Optic atrophy ORPHA:93400
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Increased HDL cholesterol concentration, Cardiac shunt, ... ORPHA:70591
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Reduced ejection fraction, Right bundle branc... ORPHA:268
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Primary Biliary Cholangitis
Orthostatic hypotension, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration,... ORPHA:186
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Mitral stenosis,... ORPHA:163956
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Hyperlipidemia, Prolonged QT interval, Hypertension ORPHA:99413
Turner Syndrome
Myocardial infarction, Hyperlipidemia, Prolonged QT interval, Hypertension ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Hyperlipidemia, Prolonged QT interval, Hypertension ORPHA:99228
Monosomy X
Myocardial infarction, Hyperlipidemia, Prolonged QT interval, Hypertension ORPHA:99226
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Fructose Intolerance, Hereditary
Hypophosphatemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia,... OMIM:229600
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Erythroid ... ORPHA:79277
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hepatosplenomegaly, Spontaneous hemolytic crises, Stomatocytosis ORPHA:168577
Dextrocardia
T-wave inversion, Abnormality of the spleen, Abnormal EKG ORPHA:1666
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Bradycardia OMIM:218700
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Staphylococcal Necrotizing Pneumonia
Hypotension, Leukocytosis, Elevated circulating C-reactive protein concentration, Leukopenia, Sho... ORPHA:36238
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Cranioectodermal Dysplasia 2
Polysplenia, Hyperbilirubinemia, Hypertension, Splenomegaly OMIM:613610
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Shortened QT interval, Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Anemia, Neutrophilia, Brain abscess, Liver... ORPHA:54251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia, Granuloma ORPHA:562639
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Sweet Syndrome
Small vessel vasculitis, Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute ... ORPHA:3243
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:614204
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Hematemesis, Shortened QT interval, Primary hypercortisolis... ORPHA:652
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1302
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnorm... OMIM:229310
Friedreich Ataxia 2
Abnormal EKG, Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart f... OMIM:601992
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Optic nerve hypoplasia, Retinal detac... OMIM:614643
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Dilated cardiomyopathy, Supraventricular arrhythmia, Leukocytosis, Intracranial h... ORPHA:3260
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia OMIM:120200
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:612852
African Trypanosomiasis
Arrhythmia, Pericarditis, Papilledema, Abnormality of circulating cortisol level, Congestive hear... ORPHA:3385
Familial Mediterranean Fever
Pericarditis, Leukocytosis, Elevated circulating amyloid A, Elevated circulating C-reactive prote... OMIM:249100
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Hypertension OMIM:300896
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal EKG, Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart f... OMIM:302900
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia OMIM:241080
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Remnants of the hyaloid vascular system, Retinal nonattachment OMIM:221900
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Optic disc pallor OMIM:260920
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia ORPHA:3464
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Steinert Myotonic Dystrophy
Hypercholesterolemia, Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular sys... ORPHA:273
Japanese Encephalitis
Neutrophilia, Hyponatremia ORPHA:79139
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Leukocytosis, Anemia, Microcytic anemia ORPHA:99843
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Pulmonic stenosis, Aortic valve stenosis, Remnants of the hyaloid vascular system, Retinal detach... OMIM:300166
Norrie Disease
Retinal detachment, Remnants of the hyaloid vascular system, Optic atrophy ORPHA:649

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 Sh3tc1

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 Sh3tc1.

No publications found that use IMPC mice or data for Sh3tc1.

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MGI Allele Allele Type Produced
Sh3tc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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