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 heart rate Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 7.94×10-07
increased circulating alanine transaminase level Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 1.14×10-05
abnormal auditory brainstem response Hipk3tm1b(EUCOMM)Hmgu HOM   Early adult 1.93×10-08
decreased locomotor activity Hipk3tm1b(EUCOMM)Hmgu HOM   Early adult 3.23×10-08
thrombocytosis Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 5.40×10-05
increased heart rate variability Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 1.80×10-07
decreased startle reflex Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 8.29×10-08
increased mean platelet volume Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 7.21×10-05
decreased prepulse inhibition 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
prolonged RR interval Hipk3tm1b(EUCOMM)Hmgu HOM Early adult 4.49×10-08

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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


XRay Images Whole Body Dorso Ventral

10 Images


Panel A FCS file(s)

6 Images

Electrocardiogram (ECG)

Waveform Image

22 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
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures OMIM:256450
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Abnormality of the pancreatic islet cells OMIM:606762
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Bradycardia, Hearing impairment, Increased heart rate variability, Syncope OMIM:614896
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Thrombocythemia 3
Ischemic stroke, Thrombocytosis OMIM:614521
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epistaxis, Sple... OMIM:314050
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Bleeding Disorder, Platelet-Type, 25
Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in... OMIM:620486
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Sensorineural hearing impairment, Spontaneous, recu... ORPHA:182050
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Progressive sensorineur... ORPHA:494444
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... ORPHA:75564
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,... OMIM:231200
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Hyp... ORPHA:79230
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, Dilated cardi... OMIM:601419
Essential Thrombocythemia
Acute leukemia, Transient ischemic attack, Leukocytosis, Abnormality of thrombocytes, Abnormal pl... ORPHA:3318
Thrombocythemia 2
Thrombocytosis OMIM:601977
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Bradycardia, Cardiomyopathy, Cardiac arrest, Premature ventricular contrac... OMIM:212138
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperhidrosis, Hyperinsulinemic... ORPHA:276608
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Abnormal autonomic nervous system physio... ORPHA:101016
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia ORPHA:238459
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Truncal ataxia, Impaired glucose tolerance, Intention tremor, Prominent antihelix, M... OMIM:614407
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Bradycardia OMIM:620265
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Microtia, Hearing impairment, Increased mean platelet volume, Ventricular ... OMIM:620475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Hyperalaninemia, Hypoglycemia, Decreased plasma free carni... OMIM:619048
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276580
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:614034
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hearing impairment, Dystonia, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Dystoni... OMIM:614702
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Thromboc... OMIM:604416
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Bradycardia, Cardiac arrest, Hypertrophic cardiomy... OMIM:618235
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperpl... ORPHA:276575
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Hyperprolinemi... OMIM:616299
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, EEG abnormality, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Immunodeficiency 27A
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... OMIM:209950
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Neuroleptic Malignant Syndrome
Oculogyric crisis, Bradycardia, Hypertension, Hypertensive crisis, Abnormal autonomic nervous sys... ORPHA:94093
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Bradycardia OMIM:609924
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Thrombocytosis, Hyperuricemia, Hypsarrhythmia, Cardiac arrest, Hypotension, Leukocytosis,... ORPHA:20
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Bradycardia, Hypertension, Tremor, Abnormal autonomic nervous system physiology, Elevated circula... ORPHA:3299
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Idiopathic Congenital Hypothyroidism
Lethargy, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Primary Myelofibrosis
Anemia, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hypertension, Poikilocytosis, Hepatosp... ORPHA:824
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Epistaxis, Anemia OMIM:616176
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation... OMIM:615745
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Necrotizing Enterocolitis
Neutropenia, Abnormal glucose homeostasis, Bradycardia, Hypotension, Leukocytosis, Hyponatremia, ... ORPHA:391673
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemic hypoglycemia, Episodic hyperhidrosis, Diffu... ORPHA:276556
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Beta-Ketothiolase Deficiency
Hyperuricemia, Hypertension, Hypotension, Leukocytosis, Hyperammonemia, Hyperglycemia, Ataxia, Hy... ORPHA:134
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Hypsarrhythmia, Ventricular escape rhythm, Arrhythmia, Prolonge... ORPHA:542306
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Bradycardia OMIM:614654
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Iron deficiency anemia, Hypoproteinemia, Budd-Chiari syndrome, Hypoal... OMIM:226300
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia, Low-set ears OMIM:300048
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Elevated circulating creatine kin... OMIM:618775
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Progressive hearing impairment, Cardiomyopathy, Gait disturbance, Arrhythmia, Diabet... OMIM:609286
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia,... OMIM:169400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Elevated circulating creatine kinase concentration, Sinus bradycardia, Loss o... OMIM:616812
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Neonatal hypoglycemia, Decreased nerve conduction velocity, Leg dystonia, Bradycard... ORPHA:565624
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Sensorineural hearing impairment, Thrombocytopenia, Macrothrombocy... OMIM:124900
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Hypertension, Budd-... ORPHA:729
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Abnormal autonomic nervous system phy... ORPHA:330001
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Familial Thyroid Dyshormonogenesis
Bradycardia, Sensorineural hearing impairment, Abnormal circulating thyroglobulin concentration, ... ORPHA:95716
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Facial pals... OMIM:617519
Pancreatic Agenesis 2
Diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Opisthotonus, Bradycardia OMIM:619814
Bernard-Soulier Syndrome
Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr... ORPHA:274
Takenouchi-Kosaki Syndrome
Optic atrophy, Sensorineural hearing impairment, Low-set ears, Pulmonic stenosis, Increased mean ... OMIM:616737
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic calcification,... OMIM:167800
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Abnormal circulating creati... OMIM:232500
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Hypsarrhy... OMIM:220120
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Leukopenia, Raynaud phenomenon, Ly... OMIM:615934
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr... ORPHA:45452
Tropical Pancreatitis
Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancr... ORPHA:103918
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Aortic regurgitation, Microtia, Hypergalactosemia, Low-set ears,... OMIM:222470
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Recurrent otitis media, Anemia, Elevated circulating C-reactive protein concentrat... OMIM:615688
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Prolonged QTc interval, Bilateral sensorineural hearing impairment, Ventr... ORPHA:90647
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia, Cerebral hemorrhage, Bradycardia OMIM:617397
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Neonatal hypoglycemia, Bradycardia, EEG with burst suppression, ST segm... OMIM:261740
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, EEG with burst suppression, Abnormal autonomic nervous system physiology, Bradycardia OMIM:614498
Cardiomyopathy, Dilated, 1Ii
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr... OMIM:615184
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten... ORPHA:71493
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Congenital Disorder Of Glycosylation, Type Ia
Tremor, Cardiomyopathy, Intention tremor, Pericarditis, Macrotia, Ataxia, Hypoalbuminemia, Hypoch... OMIM:212065
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Glutamine Deficiency, Congenital
Hyperammonemia, Hypoglutaminemia, Low-set ears, Bradycardia OMIM:610015
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis OMIM:273900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Bradycardia, Hyperhomocystinemia, Megaloblastic anemia, Tremor, Cardiac a... OMIM:277400
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ... OMIM:619747
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop... ORPHA:3240
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, ... OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Bradycardia, Hypsarrhythmia, Increased circulating free fatty acid leve... OMIM:610768
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Microtia, Low-set ears, Conductive hearing impairment, Posteriorly rotat... OMIM:611209
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
Cogan Syndrome
Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Sensorineural hearing impairme... ORPHA:1467
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Hypoketotic hypoglycemia, Increased hepati... ORPHA:263455
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Joint hemorrhage, Epistaxis, Intracrania... ORPHA:324636
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Acitretin/Etretinate Embryopathy
Bradycardia, Microtia, Bilateral sensorineural hearing impairment, Hypoplasia of the thymus, Thir... ORPHA:40366
Stiff-Person Syndrome
Anemia, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Diabetes mellitus OMIM:184850
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Increased circulating NT-... ORPHA:85451
Thrombocytopenia 10
Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:620484
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Ataxia, Macrothromboc... OMIM:603585
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Ataxia, Type I diabetes mellitus, Thromb... OMIM:212750
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Ven... OMIM:600649
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Hereditary Chronic Pancreatitis
Diabetes mellitus, Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Cardiomyopathy, Unsteady gait, Hyperglycemia, Type II diabetes ... OMIM:520000
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Sepsis In Premature Infants
Anemia, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension, Leukocyt... ORPHA:90051
Poems Syndrome
Pulmonary arterial hypertension, Papilledema, Diabetes mellitus, Polycythemia, Splenomegaly, Thro... ORPHA:2905
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge... OMIM:313900
Syndromic Diarrhea
Abnormality of iron homeostasis, Aortic regurgitation, Hypoplasia of the thymus, Increased mean p... ORPHA:84064
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Marburg Hemorrhagic Fever
Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopenia, Lymphopenia, Elevated cir... ORPHA:99826
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Vasculitis, Decreased mean ... OMIM:617718
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating C-reactive protein concentration, Bradycardia, Resting tremor, ... ORPHA:319213
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Ovarian c... OMIM:246200
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... ORPHA:93111
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Anemia, Thrombocytosis, Supraventricular arrhythmia, Transient ischemic... ORPHA:3260
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia, Bradyca... ORPHA:90673
Congenital Myopathy 22A, Classic
Mildly elevated creatine kinase, Waddling gait, Tricuspid regurgitation, Bradycardia OMIM:620351
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Bradycardia, Cranial nerve compression, Jaw claudicat... ORPHA:221098
Encephalitis Lethargica
Tremor, Lethargy, Bradycardia ORPHA:83600
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase, Hand tremor OMIM:604484
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Abnormal cranial ... OMIM:601596
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Kawasaki Disease
Myocarditis, Congestive heart failure, Elevated circulating C-reactive protein concentration, Vas... ORPHA:2331
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Orthostatic hypotension, Sensorineural hearing impairment, Dysdiadochokinesis, Trem... ORPHA:99027
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Hypotension, Leukocytosis, Increas... ORPHA:91547
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ... OMIM:187900
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Bradycardia, Sensorineural hearing impairment, Hypo... ORPHA:91355
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Hearing impairment, Increased mean platelet vol... ORPHA:487796
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... OMIM:105650
Combined Oxidative Phosphorylation Deficiency 39
Hypsarrhythmia, Type I diabetes mellitus, Sinus bradycardia, Dystonia OMIM:618397
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... OMIM:606176
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Diffuse alveolar hem... ORPHA:99827
Interstitial Lung And Liver Disease
Hyperammonemia, Thrombocytosis, Anemia, Intraalveolar phospholipid accumulation OMIM:615486
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hyper... ORPHA:90674
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T... ORPHA:90037
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st... OMIM:616881
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Bradycardia, Sensorineural hearing impairment, Tremor, Dystonia, Neutropenia OMIM:617248
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gall... OMIM:615710
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Iron deficiency anemia, Thrombocytosis, Elevated circulating C-reactive protein concentration, Ly... OMIM:301074
Myocarditis, Anemia, Arteritis, Abnormality of the peripheral nervous system, Elevated circulatin... ORPHA:1304
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Anemia, Hypertension, Tremor, Absent brainstem auditory respon... ORPHA:90321
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru... ORPHA:99829
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Recurrent otitis media, Impaired l... OMIM:301000
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Proximal Spinal Muscular Atrophy
Inability to walk, Facial diplegia, Difficulty walking, Bradycardia ORPHA:70
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Increased circula... ORPHA:26793
Diabetes Mellitus, Permanent Neonatal, 3
Interictal epileptiform activity, Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural... ORPHA:101085
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper... OMIM:145600
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Exaggerated startle response, Hypernatremia, Dystonia, Hyperglycemia, Thrombocyto... OMIM:620423
Igg4-Related Thyroid Disease
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ... ORPHA:64744
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Low-set ears, Retinal hemorrhage, Tachycardia OMIM:614653
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypsarrhythmia, Hypochromic anemia, Thrombocytosis, Leukocytosis OMIM:618213
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Reduced pancreatic beta cells, Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes... OMIM:226980
Stiff Person Spectrum Disorder
Diabetes mellitus, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Optic disc pallor OMIM:619260
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Hyperglycemia, Neonatal insulin... ORPHA:99885
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Myotonic Dystrophy 2
Right bundle branch block, Insulin insensitivity, Elevated circulating creatine kinase concentrat... OMIM:602668
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Lethargy, Bradycardia OMIM:218700
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Hypotension, Limb dystonia, Exaggerated... OMIM:608643
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Tremor, Hypokalemia OMIM:613239
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Increased circulating ferritin concentration, Abnormality of iron homeo... ORPHA:465508
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, A... ORPHA:206448
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Hypokalemia OMIM:188580
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia, Sensorineural hearing impairment, Optic nerve hypoplasia, Hypoglycemia, Lethargy ORPHA:226307
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia, Lethargy OMIM:229700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, Mitral regurgitation, Recurrent otitis media, Tricuspid regurgitation OMIM:261990
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens... ORPHA:75565
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Tachycardia, Congenital sensorineural hearing impairment, Abnormal circulating tryptophan concent... ORPHA:79155
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... ORPHA:137675
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Optic disc pallor, Exaggerated startle response OMIM:609541
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Positive reg... OMIM:171420
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... ORPHA:2298
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Optic disc pallor, Exaggerated startle response ORPHA:320406
Bohring-Opitz Syndrome
Optic atrophy, Inability to walk, Low-set, posteriorly rotated ears, Bradycardia ORPHA:97297
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Low-set ears, Hyperalaninemia, Exaggerated startle response, G... OMIM:620451
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Inability to walk, Exaggerated startle response OMIM:620114
Perlman Syndrome
Hypoglycemia, Pancreatic islet-cell hyperplasia, Cryptorchidism OMIM:267000
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hyperglycemia, Type ... OMIM:615812
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory evoked pote... ORPHA:909
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Optic nerve hypoplasia, Exaggerated startle response, Macrotia, EEG with gener... OMIM:617864
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Tay-Sachs Disease
Optic atrophy, Inability to walk, Increased serum beta-hexosaminidase, Tremor, Exaggerated startl... ORPHA:845
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of neutrophil ph... ORPHA:2968
Sandhoff Disease
Ataxia, Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response OMIM:268800
Doors Syndrome
Optic atrophy, Low-set ears, Atresia of the external auditory canal, EEG abnormality, Thrombocytosis ORPHA:79500
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Hypoglycemia, Pancreatic islet-c... OMIM:276700
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal blood ion concentration, Dilated cardiomyopathy, Anemia, Bradycardia ORPHA:79404
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glucose intolerance, Pancreatic hypoplasia, Impaired glucos... OMIM:137920
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Abnormal pinna morphology, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Elevated circulating creatine kinase concentration, Exaggerated startle response, ... OMIM:253800
Elevated hepatic iron concentration, Diabetes mellitus, Abnormal pancreas morphology ORPHA:48818
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Abnormal pinna morphology, Low-set ears, Tricuspid regurgit... OMIM:614437
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ... ORPHA:449432
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Hepatos... ORPHA:79255
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Aortic valve stenosis, Elevated 8(9)-cholesten... ORPHA:401973
Asparagine Synthetase Deficiency
Hypoasparaginemia, Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, ... OMIM:615574
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Difficulty walking OMIM:619482
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Macrotia, EEG abnormality, Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Hepatoblastoma, Hypoglycemia, Pancreatic islet-cell h... ORPHA:373
Greenberg Dysplasia
Pancreatic islet-cell hyperplasia, Hepatosplenomegaly, Hepatic calcification, Hepatomegaly OMIM:215140
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Posteriorly rotated ears, Exaggerated startle response, Low-set ears OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Inability to walk, Broad-based gait, Exaggerated startle response, Pulmonic stenosis, Dys... ORPHA:438213
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Cryptorchidism, Splenomegaly, Hepatoblastoma, Pancreatic islet-cell hyperplasia, Su... OMIM:312870
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Exaggerated startle response OMIM:618367
Holt-Oram Syndrome
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non... OMIM:142900
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears OMIM:619522


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 PMC7263671

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MGI Allele Allele Type Produced
Hipk3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Hipk3em1(IMPC)Wtsi Point Mutation Mice
Hipk3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hipk3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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