Gene Summary

homeodomain interacting protein kinase 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased startle reflex Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 8.29×10-08
thrombocytosis Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 5.42×10-05
abnormal auditory brainstem response Hipk3tm1b(EUCOMM)Hmgu HOM   Early adult 1.85×10-08
hypoactivity Hipk3tm1b(EUCOMM)Hmgu HOM   Early adult 9.82×10-08
prolonged RR interval Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 4.49×10-08
decreased heart rate Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 7.94×10-07
increased circulating alanine transaminase level Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 1.16×10-05
increased mean platelet volume Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 9.09×10-05
increased heart rate variability Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 1.80×10-07
increased fasting circulating glucose level Hipk3tm1b(EUCOMM)Hmgu HOM   Early adult 2.75×10-09
decreased prepulse inhibition Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 1.80×10-07

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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.


XRay Images Whole Body Lateral Orientation

10 Images


Panel A FCS file(s)

6 Images


XRay Images Whole Body Dorso Ventral

10 Images


Panel B FCS file(s)

6 Images

Human diseases caused by Hipk3 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 Hipk3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Sinoatrial Node Dysfunction And Deafness
Hearing impairment, Bradycardia OMIM:614896
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Thrombocytopenia, Myocardial infarction, Leukocyte inclusion bodies, Sensorineural hea... OMIM:155100
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Sebastian syndrome
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Progressive sensorineural hearing impairment, Macrothrombocyto... OMIM:600208
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased mean platelet volume, My... ORPHA:182050
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Tremor, Neutropenia, Sensorineural hearing impairment, Bradycardia OMIM:617248
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of endocrine pancreas p... ORPHA:79230
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Facial palsy, Third degree atrioventricular block, Dilated cardiomyop... OMIM:601419
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglycemia, Ventricula... OMIM:212138
Thrombocythemia 2
Thrombocytosis OMIM:601977
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemi... ORPHA:324575
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Abnormal auton... ORPHA:101016
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Bradycardia OMIM:616299
Pulmonary hemorrhage, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Dystonia, Truncal ataxia, Glucose intolerance, Macrotia, Impaired glucose to... OMIM:614407
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Hypoglycemia, Congestive heart failure, Hyperalaninemia, Bradyca... OMIM:619048
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies, High-... OMIM:153640
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Bradycardia OMIM:614654
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Hearing impairment, Anemia of in... OMIM:617780
Dystonia 23
Arrhythmia, Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Limb dyst... OMIM:614860
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Pancreatic Agenesis 1
Pancreatic hypoplasia, Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Exocrine ... OMIM:260370
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Necrotizing Enterocolitis
Lethargy, Hypotension, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Shock, Hypergly... ORPHA:391673
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Lethargy, Hyperinsulinemic hypoglycemia, Hypoketotic hypogly... ORPHA:276556
Thrombocythemia 3
Thrombocytosis OMIM:614521
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyperuricemia, Pulmonary embolism, Elevated circulating creatine kin... ORPHA:94093
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, EEG abnormality, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Tremor, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension... ORPHA:3299
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Lethargy, Thrombocytosis, Hypsarrhythmia, Hypotension, Leukocytosis, Nonketotic h... ORPHA:20
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy, Bradycardia ORPHA:95717
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I,... OMIM:615745
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Epistaxis, Increased mean platelet volume, Splenomegaly OMIM:153670
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Beta-Ketothiolase Deficiency
Hyperammonemia, Thrombocytosis, Hypotension, Leukocytosis, Hyperuricemia, Ataxia, Hypertension, H... ORPHA:134
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Gait disturbance, Diabetes mellitus, Bradycardia, Progressive hearing impairment, Car... OMIM:609286
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Difficulty walking, Loss of ability to walk, Atrioventricular block, Sinus bradycar... OMIM:616812
Pseudo-Torch Syndrome 2
Thrombocytopenia, Cerebral hemorrhage, Bradycardia, Lethargy OMIM:617397
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology OMIM:614498
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Timothy Syndrome
Hypocalcemia, Bradycardia, Prolonged QT interval, Hypoglycemia OMIM:601005
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Hypsarrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval... ORPHA:542306
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Glucose intolerance, Impaired glucose t... OMIM:606069
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentr... OMIM:618775
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Paroxysmal supraventricular tachycardia... ORPHA:45452
Familial Thyroid Dyshormonogenesis
Lethargy, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Abnormal circulating thy... ORPHA:95716
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, ... ORPHA:330001
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Budd-Chiari syndrome, Pulmonary embolism... OMIM:226300
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Hypsarrhythmia, Loss of ability to walk, Toe walking, Leg dystonia, EEG ab... ORPHA:565624
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, A... OMIM:615934
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Ataxia, Thrombocytopenia, Pulmonic stenosis, Posteriorly rotated ... OMIM:616737
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Vasculitis, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Hypertension, Ataxia, Pancytopenia, Splenomegaly, Type... OMIM:615688
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Atrial fibrillation, Hypertriglyceridemia, Tachycardia, Pro... OMIM:613327
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Aortic regurgitation, Hypermethioninemia, Increa... OMIM:222470
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Tremor, Postlingual sensor... ORPHA:52368
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Hematemesis, Spontaneous, recurrent epistaxis, Macrothrombocytopenia... ORPHA:274
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume, Epistaxis OMIM:273900
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Cerebral ischemia, Splenome... ORPHA:71493
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia,... OMIM:261740
Hypotension, Hearing impairment, Tachycardia OMIM:236800
Cogan Syndrome
Thrombocytosis, Aortic regurgitation, Large vessel vasculitis, Leukocytosis, Sensorineural hearin... ORPHA:1467
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Elevated c... ORPHA:439232
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Gastrointestinal hemorrhage, Autoim... ORPHA:324636
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Ventricul... OMIM:600649
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Bradycardia OMIM:610015
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Arrhythmia, Ventricular fibrillation, Profound sensorineural hearing impa... ORPHA:90647
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Cupped ear, Third degree atrioventricular block, Bilateral sensorineura... ORPHA:40366
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Vestibular areflexia... ORPHA:3240
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Macrotia, Ataxia, Hypocholesterolemia, Hypoalbuminemia, Cardiomyopathy OMIM:212065
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Sensorineural hearing impairment, Tachycardia OMIM:221400
Hepatocellular Carcinoma
Thrombocytosis, Internal hemorrhage, Hypotension, Polycythemia, Budd-Chiari syndrome, Hyponatremi... ORPHA:88673
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Abnormal circulating... ORPHA:217607
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Poems Syndrome
Thrombocytosis, Polycythemia, Papilledema, Pulmonary arterial hypertension, Diabetes mellitus ORPHA:2905
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Variegate Porphyria
Tachycardia OMIM:176200
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Sepsis In Premature Infants
Hypotension, Leukocytosis, Neutropenia, Thrombocytopenia, Tachycardia, Elevated circulating C-rea... ORPHA:90051
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Aortic regurgitation, Lymphopenia, Increased mea... ORPHA:84064
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Diabetes mellitus, Recurrent pancreatitis ORPHA:676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Ataxia, Type I diabetes mellitus, Macrocyti... OMIM:212750
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Ataxia, Macrothrombocytopenia, Thrombocy... OMIM:603585
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Conductive hearing impairment, Abnormal circulating cholesterol concentration, Hyperbilirubinemia... OMIM:607330
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, He... OMIM:246200
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Lethargy, Bradycardia, Increased circulating thyroglobulin level ORPHA:90673
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Sensorineural hearing impairment, Type II diabetes mellitus, Hyperglycemia, Cardio... OMIM:520000
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Supraventricular arrhythmia, Intracranial hemorrhage, Leukocytosis, Vasculitis in... ORPHA:3260
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Opisthotonus, Bradycardia OMIM:619272
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Coproporphyria, Hereditary
Tachycardia, Hypertension, Splenomegaly OMIM:121300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Myotonic Dystrophy 2
Palpitations, Tachycardia, Insulin insensitivity, Elevated circulating creatine kinase concentrat... OMIM:602668
Stiff-Person Syndrome
Hypertension, Opisthotonus, Exaggerated startle response, Tachycardia, Anemia, Diabetes mellitus OMIM:184850
Glossopharyngeal Neuralgia
Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Jaw claudication, Bradycar... ORPHA:221098
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypothyroidism, Hepatic steatosis, Jaundice, Abnormality of exocrine pancreas physiology, Diabete... ORPHA:93111
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Sp... ORPHA:90037
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Hypsarrhythmia OMIM:618856
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Encephalitis Lethargica
Tremor, Lethargy, Bradycardia ORPHA:83600
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Relapsing Fever
Increased total bilirubin, Hypotension, Leukocytosis, Elevated circulating creatinine concentrati... ORPHA:91547
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Lethargy, Pure red cell aplasi... ORPHA:124
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hyponatremia, Hypoglycemia, Normochromic anemia, Sensorine... ORPHA:91355
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Hemolytic anemia... OMIM:600903
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin l... ORPHA:90674
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, ... ORPHA:99027
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Thrombocytopeni... ORPHA:449285
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Lethargy, Hypoketotic hypoglycemia, Elevated circulati... ORPHA:26793
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Gait disturbance, Ataxia, Ventricular tachycardia, Hypoglycemia, Ventricul... OMIM:616878
Pearson Marrow-Pancreas Syndrome
Diabetes mellitus, Type I diabetes mellitus, Pancreatic fibrosis OMIM:557000
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Small vessel vasculitis, Decreased propor... OMIM:301000
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Fasting hypoglycemia, Arrhythmia, Lethargy, Hypotension, Hypoketotic ... ORPHA:159
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Methemoglobinemia, Syncope ORPHA:464453
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, A... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural hearing impairment, A... ORPHA:529799
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Friedreich Ataxia
Abnormal echocardiogram, Gait ataxia, Decreased amplitude of sensory action potentials, Decreased... OMIM:229300
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Increased mean platelet volume, Thrombocytopenia, Hearing impa... ORPHA:487796
Proximal Spinal Muscular Atrophy
Inability to walk, Facial diplegia, Bradycardia, Difficulty walking ORPHA:70
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Hypoglycemia, Sudden cardiac death, Tachycard... OMIM:614921
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Leukocytosis, ST segment depression, Hypertension, Myocard... ORPHA:90065
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Thrombocytosis, Arteritis, Pericarditis, Leukocytosis, Thrombocytopenia, Abnormality of the perip... ORPHA:1304
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Hypokalemia, Tachycardia OMIM:613239
Cockayne Syndrome Type 1
Tremor, Increased blood urea nitrogen, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hy... ORPHA:90321
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hypokalemia, Tachycardia OMIM:188580
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Head tremor, Limb ataxia, Unsteady gait, Sensorineural hearing im... ORPHA:101085
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension, Posteriorly ro... OMIM:613870
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Tachycardia ORPHA:90036
Scorpion Envenomation
Cardiogenic shock, Tremor, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Incre... ORPHA:466677
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Reduced pancreatic beta cells, Type I diabetes mellitus, Insulin-resistant diabetes... OMIM:226980
Mercury Poisoning
Dystonia, Tremor, Hypotension, Hypertension, Hypokalemia, Tachycardia ORPHA:330021
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Paragangliomas 3
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma OMIM:605373
Thrombocytopenia, Tachycardia, Anemia, Leukocytosis ORPHA:3392
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration ORPHA:264675
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Conductive hearing impairment, Pulsa... OMIM:168000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Tachycardia, Hypoglycemia OMIM:229700
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Eosinophi... ORPHA:75565
Hypotension, Congenital sensorineural hearing impairment, Tachycardia, Abnormal circulating trypt... ORPHA:79155
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hyperten... OMIM:604367
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... ORPHA:368
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreat... ORPHA:99885
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... OMIM:601346
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Throm... ORPHA:98849
Histiocytoid Cardiomyopathy
Lethargy, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Hypoglycemia, Vent... ORPHA:137675
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Arrhythmia, Lethargy, Abnormality of iron homeostas... ORPHA:465508
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Loss of ability to walk, Tachycardia, Optic disc pallor ORPHA:79264
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Congestive heart failure, Tachycardia, S... ORPHA:90033
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Athetosis OMIM:618857
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Lethargy, Bradycardia OMIM:218700
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal heart rate variability, Opisthotonus, He... ORPHA:206436
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Cockayne Syndrome A
Tremor, Arrhythmia, Decreased nerve conduction velocity, Gait disturbance, Abnormality of the pin... OMIM:216400
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypoglycemia, Sensorineural hearing impairment, Optic nerve hypoplasia, Bradycardia ORPHA:226307
Hereditary Coproporphyria
Long hairs growing from helix of pinna, Hyponatremia, Tachycardia, Abnormal circulating porphyrin... ORPHA:79273
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Thrombocytosis, Hypsarrhythmia OMIM:618213
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia OMIM:619260
Hypocalcemia, Lethargy, Hypotension, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration... ORPHA:173
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Hyperuricemia, Hypoglycemia, Neonatal hyperbilirubin... ORPHA:348
Bohring-Opitz Syndrome
Inability to walk, Low-set, posteriorly rotated ears, Optic atrophy, Bradycardia ORPHA:97297
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Hypotension, Blepharospasm, Limb tremor, Torticollis, Oculogyric crisis, Exaggerated st... OMIM:608643
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Diabetes mellitus, Falls ORPHA:3198
Tyrosinemia, Type I
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatomegaly, Splenomegaly, Pancreatic islet-c... OMIM:276700
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Increased circulating m... ORPHA:36234
Cockayne Syndrome B
Tremor, Arrhythmia, Decreased nerve conduction velocity, Abnormality of the pinna, Ataxia, Hypert... OMIM:133540
Congenital Fibrinogen Deficiency
Splenic rupture, Tachycardia, Opisthotonus, Internal hemorrhage ORPHA:335
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Porphyria Variegata
Hyponatremia, Abnormal autonomic nervous system physiology, Hypertension, Tachycardia, Abnormal c... ORPHA:79473
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Thrombocytosis, Hyperinsulinemic hypoglycemia, Leukocytosis, Polyc... ORPHA:2968
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure, Tachycard... ORPHA:505248
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Cocaine Intoxication
Ventricular arrhythmia, Tremor, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythm... ORPHA:90068
Eisenmenger Syndrome
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... ORPHA:97214
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Ataxia, Congestive heart failure, T... ORPHA:31826
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Resting tremor, Ataxia, Abnormal motor evoked potentials, Abnormal au... ORPHA:909
Doors Syndrome
Atresia of the external auditory canal, Thrombocytosis, EEG abnormality, Optic atrophy ORPHA:79500
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Supr... ORPHA:423
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tachycardia, Anemia, Syncope ORPHA:71273
Serotonin Syndrome
Tremor, Hypotension, Hypertension, Tachycardia, Abnormality of the autonomic nervous system ORPHA:43116
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Ataxia, Abnormal autono... OMIM:609136
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia, Anemia, Abnormal blood ion concentration ORPHA:79404
16P12.1P12.3 Triplication Syndrome
Tachycardia, Large earlobe, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:485405
Familial Dysautonomia
Orthostatic hypotension, Gait disturbance, Hyponatremia, Hypertension, Ataxia, Tachycardia, Optic... ORPHA:1764
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response, Ataxia OMIM:618598
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Abnormality of the pinna OMIM:614437
Carney Triad
Arrhythmia, Gastrointestinal hemorrhage, Hypertension, Tachycardia, Anemia ORPHA:139411
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia OMIM:267000
Mend Syndrome
Elevated 8-dehydrocholesterol, Aortic valve stenosis, Abnormal auditory evoked potentials, Hypera... ORPHA:401973
Gitelman Syndrome
Palpitations, Hypotension, Ataxia, Ventricular tachycardia, Increased circulating renin level, Hy... OMIM:263800
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Increased serum beta-hexosaminidase, Laryn... ORPHA:845
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly, Ataxia, Orthostatic hypotension OMIM:268800
Double Outlet Right Ventricle
Pulmonic stenosis, Heart murmur, Tachycardia, Hypocalcemia ORPHA:3426
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... OMIM:223900
Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology ORPHA:48818
Paragangliomas 4
Palpitations, Tachycardia, Pulsatile tinnitus, Hypertension associated with pheochromocytoma OMIM:115310
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Pulmonic stenosis, Exaggerated startle respon... OMIM:253800
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly, Tachycardia ORPHA:39812
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Hepatic calcification, Pancreatic islet-cell hyperplasia OMIM:215140
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Ataxia, Broad-based gait ORPHA:438216
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Gm1 Gangliosidosis Type 1
Macrotia, Hearing impairment, Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy ORPHA:79255
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Polysplenia, Hepatoblastoma, Hypoglycemia, Hepatomegaly, Splenomegaly, Supernumer... ORPHA:373
Acute Intermittent Porphyria
Tremor, Hyponatremia, Tachycardia, Hypertension ORPHA:79276
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Hypsarrhythmia, Low-set, posteriorly rotated ears, Exaggerated startle response, Sensor... ORPHA:521426
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mirizzi Syndrome
Hyperbilirubinemia, Tachycardia ORPHA:521219
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy OMIM:617527
Arrhythmia, Hematemesis, Hypotension, Unsteady gait, Hearing impairment, Tachycardia, Splenomegaly ORPHA:707
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Pulmonic stenosis, Decreased serum iron, Exaggerated startle respons... ORPHA:438213
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Polysplenia, Hepatomegaly, Splenomegaly, Supernumerary nipple, Pancreatic islet-c... OMIM:312870
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Hearing impairment, Tachycardia, Prolonged QT interval ORPHA:1772
Truncus Arteriosus
Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of the thymus, Pulmonic stenosi... ORPHA:3384
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Tachycardia, Pulmonary arterial hypertension,... ORPHA:99125


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 Hipk3

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 Hipk3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Hipk3em1(IMPC)Wtsi