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

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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
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Romano-Ward Syndrome
Sinus bradycardia, Hypokalemia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventri... ORPHA:101016
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Normochromic microcytic anemia, Congestive heart failure, Sudden cardiac ... OMIM:610198
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Congestive heart failure, Hypercholesterolemia, Cerebral hemorrhage, ST segment dep... ORPHA:90065
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Iron deficiency anemia, Syncope, Prolon... ORPHA:90647
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Neutropenia, Anemia, Prolonged QT... ORPHA:398124
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
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
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated circulating cre... ORPHA:97292
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Nathalie Syndrome
Abnormal EKG OMIM:255990
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Neutrophilia, Elevated circulating C-reactive ... OMIM:619644
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Familial Hyperaldosteronism Type Iii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Prolonged QT interval, Hypert... ORPHA:251274
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Iron deficiency anemi... OMIM:616278
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Prolonged QT interval OMIM:615351
Timothy Syndrome
Bradycardia, Hypocalcemia, Prolonged QT interval OMIM:601005
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
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, T... ORPHA:90037
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Increased serum pyruvate ORPHA:94125
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Abnormal left ventricular function, Hypocalcemia, Ventricular arrhythmia, ... ORPHA:36913
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Ventricular tachycardia, Arrhy... ORPHA:26793
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Increased C-peptide level, Decreased plasma carnitine, Mildly elevated cr... ORPHA:71212
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Increased circulat... ORPHA:85451
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Mitral regurgitation, Splenomegaly, Pulmonic stenosis, Neutropenia, Anem... OMIM:612541
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Normochromic microcytic anemia, Prolonged QT interval, Elevated circulati... ORPHA:66634
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Elevated circulating creatine kinase concentration, Prolonged QT interval, Atrial f... OMIM:613327
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholestero... ORPHA:247598
Infantile Sialic Acid Storage Disease
Splenomegaly, Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Congestive heart failure OMIM:269920
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:214900
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:612653
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:616649
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Arrhythmia, Reduced ejection fraction, Hypotension... ORPHA:542323
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prom... OMIM:170390
Scorpion Envenomation
Increased circulating troponin I concentration, Hypokalemia, Premature ventricular contraction, A... ORPHA:466677
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Elevated circulating acylcarnitine concentration, Abnormal EKG, Elevated circulating ... ORPHA:480864
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Reticulocyt... OMIM:235700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Torsade de pointes, Ventricular tachycardia, Elevated c... OMIM:616878
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Spherocytosis, Type 1
Splenomegaly, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:182900
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia, Arrhythmia OMIM:616949
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Reticulocytosis, Ne... OMIM:618892
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Hypokalemia, Ventricular fibrillation, Hypocalcemia, Palp... ORPHA:358
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elliptocytosis... OMIM:109270
Glycogen Storage Disease Vii
Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increa... OMIM:232800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hyperkalemia, Hypocalcemia, Hypotens... ORPHA:466650
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Hepatoportal Sclerosis
Leukopenia, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Anemia, Hyperbilirubi... ORPHA:64743
Hereditary Elliptocytosis
Reticulocytosis, Splenomegaly, Hyperbilirubinemia, Hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:288
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spherocytosis, Anemia, Restric... ORPHA:822
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Hemolytic anemia ORPHA:713
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Elevated circulatin... ORPHA:90068
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Loeffler Endocarditis
Eosinophilia, Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestiv... ORPHA:75566
Ethylene Glycol Poisoning
Congestive heart failure, Hyperkalemia, Hypocalcemia, Hypotension, Atrial fibrillation, Hypertens... ORPHA:31826
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Ventricular fibrillation, Shortened P... ORPHA:79102
Gitelman Syndrome
Hypokalemia, Ventricular tachycardia, Increased circulating renin level, Hypotension, Prolonged Q... OMIM:263800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Elevated circulating ... OMIM:310200
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentrati... ORPHA:79303
Refractory Anemia
Normocytic anemia, Neutropenia, Abnormal cardiac ventricular function, Macrocytic anemia, Normoch... ORPHA:98826
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Congestive h... ORPHA:75564
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hypoalbuminemia, Lymphocyt... ORPHA:1667
Familial Thyroid Dyshormonogenesis
Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Op... OMIM:259720
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:607765
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Reynolds Syndrome
Gastrointestinal hemorrhage, Splenomegaly, Lip telangiectasia, Calcinosis, Hyperbilirubinemia, Ra... OMIM:613471
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Hyperpep... OMIM:615745
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Retinal hemorrhage, Diffuse alveolar hemorrhage, Hyper... ORPHA:464321
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased ci... ORPHA:231625
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Conjugated hyperbilirubinemia, Epistaxis OMIM:211600
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia, Polycy... OMIM:613280
Abetalipoproteinemia
Congestive heart failure, Abnormality of retinal pigmentation, Hypotriglyceridemia, Acanthocytosi... ORPHA:14
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Portal hypertension, Increased serum bile acid concentration, Hyperch... OMIM:619662
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Yellow Fever
Leukocytosis, Elevated circulating creatinine concentration, Reduced ejection fraction, Shock, Ne... ORPHA:99829
Graft Versus Host Disease
Hepatosplenomegaly, Tachycardia, Hyperbilirubinemia, Hemophagocytosis ORPHA:39812
Fumarase Deficiency
Hyperbilirubinemia, Optic atrophy, Polycythemia OMIM:606812
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Prolonge... ORPHA:79444
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Shock, Hypoalbuminemia OMIM:600351
Caroli Syndrome
Leukopenia, Leukocytosis, Portal hypertension, Conjugated hyperbilirubinemia, Hyperbilirubinemia,... ORPHA:480520
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Decreased plasma total carnitine, Elevated circulating creatinine concent... OMIM:608836
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Al Amyloidosis
Increased circulating troponin I concentration, Gastrointestinal hemorrhage, Arrhythmia, Jaw clau... ORPHA:85443
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany, Hyperten... ORPHA:79443
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Peritoneal abscess, Splenic cyst, Abscess ORPHA:400
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... ORPHA:99106
Hepatocellular Carcinoma
Hypokalemia, Polycythemia, Hyponatremia, Portal hypertension, Hypercalcemia, Thrombocytosis, Hypo... ORPHA:88673
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Friedreich Ataxia
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Opt... OMIM:229300
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Epistaxis ORPHA:293939
Autoimmune Hepatitis
Spider hemangioma, Splenomegaly, Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2137
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, P... ORPHA:447
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... ORPHA:230
Parenteral Nutrition-Associated Cholestasis
Portal hypertension, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Abnormal circul... ORPHA:567983
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:90673
Dpagt1-Cdg
Diffuse optic disc pallor, Anemia, Prolonged QT interval, Intracranial hemorrhage, Optic atrophy ORPHA:86309
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Splenomegaly, Prolonged QT interval, Cardiomyopathy, Polysplenia ORPHA:373
Caroli Disease
Leukocytosis, Portal hypertension, Splenomegaly, Conjugated hyperbilirubinemia, Liver abscess ORPHA:53035
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Intracranial ... ORPHA:3226
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholeste... ORPHA:90674
Idiopathic Aplastic Anemia
Pancytopenia, Retinal hemorrhage, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia, Epist... ORPHA:88
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Thrombocytopenia, Anemia, Hyperbilirubinemia, Heart murmur, Intracranial hemorrhage ORPHA:163979
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Hyperprolinemia, Increased serum pyruvate, Elevat... ORPHA:3008
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reac... ORPHA:829
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Increased HDL cholesterol concentration, Abnormal left ventricular function, Con... ORPHA:70591
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Hepatosplenomegaly, Optic atrophy ORPHA:93400
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Acanthocytosis, Hyperbilirubinemia, Anisopoikilocytosis, Abno... OMIM:607330
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Reduced ejection fraction, Abnormal EKG, Righ... ORPHA:268
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Pulmonary arterial hypertension, Mitral stenosis, Neonatal hyperbilirubinemia, Recur... ORPHA:163956
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Abnormal circulating lipid concentration, Conjugate... ORPHA:186
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Hy... ORPHA:36238
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Anemia, Hypertension, Increased total bilirubin ORPHA:84081
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Vasculitis, In... OMIM:617099
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left ventricular outflo... ORPHA:860
45,X/46,Xy Mixed Gonadal Dysgenesis
Tachycardia, Prolonged QT interval ORPHA:1772
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hyperlipidemia, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hyperlipidemia, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hyperlipidemia, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hyperlipidemia, Hypertension, Myocardial infarction ORPHA:99226
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Dextrocardia
T-wave inversion, Abnormal EKG, Abnormality of the spleen ORPHA:1666
Hardikar Syndrome
Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pigmentary retinopathy, Hyperbilirubinemia... OMIM:301068
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, ... OMIM:229600
Degcags Syndrome
Pancytopenia, Hepatosplenomegaly, Leukopenia, Congenital hypoplastic anemia, Abnormal spleen morp... OMIM:619488
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration, Conjugated hyperbilirubinemia, Pulmonary insufficiency OMIM:208500
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Hyperbilirubinemia OMIM:218700
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis ORPHA:168577
Congenital Erythropoietic Porphyria
Reticulocytosis, Increased erythrocyte protoporphyrin concentration, Leukopenia, Poikilocytosis, ... ORPHA:79277
Cranioectodermal Dysplasia 2
Polysplenia, Hyperbilirubinemia, Hypertension, Splenomegaly OMIM:613610
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Anemia, Liver abscess, Brain... ORPHA:54251
Parathyroid Carcinoma
Shortened QT interval, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Isolated Biliary Atresia
Xanthelasma, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Sweet Syndrome
Sterile abscess, Dilated cardiomyopathy, Leukocytosis, Neutrophilia, Elevated circulating C-react... ORPHA:3243
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Cardiac arrest, Elevated circulating creatinine con... OMIM:619534
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Heart murmur, Hyperbilirubinemia, Aortic regurgitation, Congestive heart failure OMIM:619475
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Hematemesis, Hypertension, Melena, Shortened QT interval... ORPHA:652
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Portal hypertension, Hypocalcemia, Anemia, Hypoalbuminemia, Unconjugated hyperbilir... OMIM:613658
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hemorrhage of the eye, Remnants of the hyaloid vascula... ORPHA:91495
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdura... ORPHA:99827
Friedreich Ataxia And Congenital Glaucoma
Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypertrophic cardiomyopathy, Con... OMIM:229310
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Abnormal EKG, Congestive heart f... OMIM:601992
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Coloboma, Ocular, Autosomal Dominant
Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:120200
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypokalemia, Elevated circulating creatinine concentration, Lymphopen... ORPHA:99826
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:249100
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Vasculitis in the skin, Dilated cardiomyopathy, Hepatosplenomegaly, Leukocytosis, C... ORPHA:3260
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Elevated circulating C-reactive protein concentration, Abscess, Splenomegaly OMIM:612852
African Trypanosomiasis
Abnormality of circulating cortisol level, Second degree atrioventricular block, Hepatosplenomega... ORPHA:3385
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Hypertension OMIM:300896
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Cardiomyopathy ORPHA:2131
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Pierson Syndrome
Hypoproteinemia, Retinal hemorrhage, Retinal detachment, Remnants of the hyaloid vascular system,... OMIM:609049
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Concentric hypertrophic cardiomyopathy, Abnormal echocardiogram, Abnormal EKG, Congestive heart f... OMIM:302900
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia OMIM:241080
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Neutrophilia, Splenomegaly, 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
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Hypercholes... ORPHA:273
Microphthalmia, Syndromic 2
Retinal detachment, Aortic valve stenosis, Remnants of the hyaloid vascular system, Pulmonic sten... OMIM:300166
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Norrie Disease
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy ORPHA:649
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539

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
Sh3tc1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Sh3tc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sh3tc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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