Gene Summary

SECIS binding protein 2-like

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
increased heart weight Secisbp2lem1(IMPC)J HOM Late adult 2.23×10-05
increased lean body mass Secisbp2lem1(IMPC)J HOM   Late adult 1.00×10-08
decreased circulating aspartate transaminase level Secisbp2lem1(IMPC)J HOM Late adult 1.85×10-11
increased bone mineral content Secisbp2lem1(IMPC)J HOM Late adult 8.46×10-06
increased bone mineral density Secisbp2lem1(IMPC)J HOM Late adult 2.27×10-05
increased heart rate Secisbp2lem1(IMPC)J HOM   Late adult 1.24×10-05
decreased circulating alanine transaminase level Secisbp2lem1(IMPC)J HOM Late adult 8.49×10-11
decreased total body fat amount Secisbp2lem1(IMPC)J HOM Late adult 6.36×10-07
abnormal lens morphology Secisbp2lem1(IMPC)J HOM   Late adult 8.95×10-08
abnormal auditory brainstem response Secisbp2lem1(IMPC)J HOM   Early adult 2.36×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

17 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Secisbp2l 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 Secisbp2l by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Buschke-Ollendorff Syndrome
Flexion contracture, Connective tissue nevi, Joint stiffness, Osteopoikilosis OMIM:166700
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Flynn-Aird Syndrome
Osteoporosis, Increased bone density with cystic changes, Increased bone mineral density, Catarac... OMIM:136300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Atypical scarring of skin, Ectopic ossification in muscle tissue, Increased bone mineral density,... ORPHA:2485
Increased bone mineral density OMIM:265880
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral den... OMIM:241520
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Hypertrophic cardiomyopathy, Hepatomegaly, Increased C-peptide level, Tachycardia, ... ORPHA:276556
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
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Hypertrophic cardiomyopathy, Hepatomegaly, Increased C-peptide level, Tachycardia, ... ORPHA:276575
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Cardiomegaly, Elevated circulating... OMIM:600649
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Hepatomegaly, Increased C-peptide level, Tachycardia, Small for gestational age, La... ORPHA:324575
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Flexion contracture, Atrial fibrillation, Lipodystrophy, Hepatomegaly, Hypertriglyc... OMIM:613327
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Hepatomegaly, Increased C-peptide level, Tachycardia, Large for gestational age, Hy... ORPHA:276580
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... ORPHA:26793
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, In... ORPHA:36913
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Palpitations, Ventricular arrhythmia, Reduced... ORPHA:217607
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Hypertension, Splenomegaly OMIM:121300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia, Obesity ORPHA:88643
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Palpitations, Tachycardia, Iridescent posteri... OMIM:602668
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Increased bone density with cystic changes, Hypocalcemic tetany,... ORPHA:94089
Variegate Porphyria
Tachycardia OMIM:176200
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Decreased body weight, Pulmonic stenosi... OMIM:616201
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Hepatom... OMIM:212138
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Hypotension, Tachycardia OMIM:236800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Hypokalemia, Tachycardia, Weight loss OMIM:613239
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular hypertrophy, Arrhythmia, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hypokalemia, Tachycardia, Weight loss OMIM:188580
Schnitzler Syndrome
Increased bone mineral density, Hepatomegaly, Splenomegaly, Vasculitis, Arthritis ORPHA:37748
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Cataract, Osteoarthritis, Cardiomyopathy OMIM:606069
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Cataract, Pulmonary embolism, Congesti... ORPHA:1345
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Buschke-Ollendorff Syndrome
Craniosynostosis, Atypical scarring of skin, Flexion contracture, Connective tissue nevi, General... ORPHA:1306
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Umbilical hernia, Increased bone minera... OMIM:614856
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Scarring, Hyperpepsinogenemia I, Atrial a... OMIM:615745
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Failure to thrive in infancy, Abnormal circ... ORPHA:264675
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90037
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Histiocytoid Cardiomyopathy
Congenital aphakia, Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, At... ORPHA:137675
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Hepatomegaly, Path... OMIM:259700
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Flexion contracture, Corneal opacity, Dilated cardiomyopathy, Bradycardia... OMIM:618815
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... ORPHA:368
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Hypertension, Tachycardia, Elevated circulating creatine kinase concentration, Stiff neck, Bradyc... ORPHA:3299
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Decreased plasma free carnitine, Hepatomegaly, Hyperalaninemia, Congesti... OMIM:619048
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Recurrent fractures, Hyperuricemia, Inc... OMIM:239000
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Hypoalbumine... ORPHA:75565
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ... OMIM:613870
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Increased body weight ORPHA:276608
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Sudden cardiac death, Tachycardia, Elevated circulating creatine kinase c... OMIM:614921
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Familial Dysautonomia
Osteolysis, Heterochromia iridis, Orthostatic hypotension, Corneal erosion, Hyponatremia, Corneal... ORPHA:1764
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171420
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Failure to thrive, Splenomegaly OMIM:615085
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hepatomegaly, Abnormal circulating fatty-acid concentration, Tachycardi... ORPHA:263455
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Myocardial infa... ORPHA:449285
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Dou... ORPHA:3426
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Abnormal dental enamel morphology, Ventricular septal defect, Craniofacial hyperostosis, Recurren... ORPHA:1782
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase co... OMIM:617713
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Cardiome... OMIM:300257
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Graft Versus Host Disease
Hyperbilirubinemia, Lipodystrophy, Stiff interphalangeal joints, Limited shoulder movement, Dupuy... ORPHA:39812
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Limited hip extension, Flexion contracture, Corneal scarring, Tachycardia, Bradycardia OMIM:614653
Congenital Fibrinogen Deficiency
Developmental cataract, Internal hemorrhage, Tachycardia, Right ventricular hypertrophy, Left ven... ORPHA:335
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Hereditary Coproporphyria
Atypical scarring of skin, Tachycardia, Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Increased bone mineral density, Hepatomegaly, Increa... ORPHA:77297
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Osteomyelitis, Cellulitis, Hypotension, Elevated circulating creatinine concentrati... ORPHA:36234
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Arrhythmia, Hypotension, Ventricular tachycardia, Elevated creatine k... ORPHA:159
Albers-Schönberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoart... ORPHA:53
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car... OMIM:300952
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Hepatomegaly, Left bundle branch block, A... OMIM:115197
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Developmental cataract, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrha... OMIM:171300
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Osteoporosis, Arrhythmia, Hepatomegaly, Congestive ... OMIM:235200
Spondyloepiphyseal Dysplasia, Nishimura Type
Cataract, Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Card... ORPHA:423
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Hepatomegaly, Reduced bone mineral density, Failure to thrive... ORPHA:2785
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Failure to t... OMIM:269920
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecularization, Cataract, Ao... ORPHA:2780
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Decreased corneal reflex, Orthostatic hypotension, Elevated circul... OMIM:223900
Werner Syndrome
Osteoporosis, Slender build, Chondrocalcinosis, Lipoatrophy, Lipodystrophy, Hypertension, Telangi... ORPHA:902
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Enlarged kidney, Flexion contracture, Pulmonary ... ORPHA:505248
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia, Delayed proximal femoral epiphyseal ossification, Umbil... ORPHA:95717
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen oval... OMIM:601005
Diastrophic Dwarfism
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Developmental cataract, Transient hypophosphatemia, Increased bone mineral density,... OMIM:127000
Gaucher Disease Type 1
Osteolysis, Pericardial effusion, Increased bone mineral density, Hepatomegaly, Pathologic fractu... ORPHA:77259
Hypotension, Tachycardia, Abnormal circulating tryptophan concentration ORPHA:79155
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Relapsing Fever
Increased total bilirubin, Hypotension, Elevated circulating creatinine concentration, Epistaxis,... ORPHA:91547
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Ventricular tachycardia, Ventricular fibrillation, Elevated circulating acylc... OMIM:616878
Scorpion Envenomation
Cardiogenic shock, Increased circulating creatine kinase MB isoform, Bundle branch block, Cardiac... ORPHA:466677
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Presenile cataracts, Diaphysea... OMIM:112250
Attrv30M Amyloidosis
Arrhythmia, Weight loss, Atrioventricular block, Cardiomegaly, Cardiomyopathy ORPHA:85447
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:611490
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Gaucher Disease
Osteomyelitis, Osteolysis, Arthrogryposis multiplex congenita, Abnormal heart valve morphology, M... ORPHA:355
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Iris coloboma, Hepatomegaly, Congestive heart failure, Ca... OMIM:253250
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Hepatosplenomegaly, Mandibular osteomye... OMIM:259710
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Increased bone mineral density, Calcinosis,... ORPHA:79444
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Osteopetrosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:612840
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Hypertension, Increased bone mineral densit... ORPHA:79443
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolonged QRS ... ORPHA:90068
Conjunctivitis, Tachycardia, Conjunctival hyperemia ORPHA:3392
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Abnormal heart valve morp... ORPHA:90652
Neuroleptic Malignant Syndrome
Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hyponatremia, Elevated circulating creatine... ORPHA:94093
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Refsum Disease, Classic
Arrhythmia, Elevated levels of phytanic acid, Cataract, Congestive heart failure, Cardiomegaly, C... OMIM:266500
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Sepsis In Premature Infants
Hypotension, Decreased body weight, Hepatomegaly, Tachycardia, Elevated circulating C-reactive pr... ORPHA:90051
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Eisenmenger Syndrome
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... ORPHA:97214
Schwartz-Jampel Syndrome
Osteoporosis, Arrhythmia, Arthrogryposis multiplex congenita, Flexion contracture of toe, Ectopia... ORPHA:800
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:168000
Poems Syndrome
Sclerosis of hand bone, Pericardial effusion, Lipodystrophy, Visceromegaly, Weight loss, Sclerosi... ORPHA:2905
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Hypotension, Weight loss, Hepatomegaly, Tachycardia, Increased susceptibility to fr... ORPHA:98849
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Osteoporosis, Arrhythmia, Abnormality of iron homeo... ORPHA:465508
Gitelman Syndrome
Palpitations, Chondrocalcinosis, Hypotension, Increased circulating renin level, Ventricular tach... OMIM:263800
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Renal hypophosph... ORPHA:289176
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, P... ORPHA:542306
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia... ORPHA:485405
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Decreased plasma total carnitine, Hepatomegaly, Distal arthrogryposis, Cardiomegaly, ... ORPHA:42
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90033
Mercury Poisoning
Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Enamel hypoplasia, Developmental cataract, Craniosynostosis, Ventricular septal defect, Absence o... ORPHA:33364
Fructose-1,6-Bisphosphatase Deficiency
Hyperuricemia, Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Tachycardia ORPHA:348
Gaucher Disease Type 3
Osteolysis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, In... ORPHA:77261
Porphyria Variegata
Scarring, Hyponatremia, Hypertension, Tachycardia, Abnormal circulating porphyrin concentration ORPHA:79473
Hyperoxaluria, Primary, Type I
Intermittent claudication, Hyperoxaluria, Increased bone mineral density, Atrioventricular block,... OMIM:259900
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Neuraminidase Deficiency
Epiphyseal stippling, Hepatomegaly, Cataract, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardio... OMIM:256550
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, C... OMIM:212140
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Reduce... OMIM:131300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
3-Methylglutaconic Aciduria, Type Viii
Cataract, Bradycardia OMIM:617248
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonatal hyperbilirubinemia, ... ORPHA:95716
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulmo... OMIM:619064
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Ogden Syndrome
Minimal subcutaneous fat, Atrial septal defect, Arrhythmia, Ventricular septal defect, Ventricula... OMIM:300855
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... ORPHA:31826
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Corneal opacity, Astigmatism, Hyperphosphatemia,... ORPHA:2323
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Hypocalcemia, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Tachycard... ORPHA:173
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Limited hip movement, Limited knee flexion/extension, Right ventricula... ORPHA:268
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age OMIM:609152
Primary Hyperoxaluria
Intermittent claudication, Recurrent fractures, Hyperoxaluria, Generalized osteosclerosis, Raynau... ORPHA:416
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Flexion contracture, Bradycardia OMIM:614498
X-Linked Hypophosphatemia
Hypophosphatemia, Craniosynostosis, Cellulitis, Rickets, Generalized osteosclerosis, Odontodyspla... ORPHA:89936
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Serotonin Syndrome
Hypotension, Tachycardia, Mydriasis, Hypertension ORPHA:43116
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Weight loss, Hepatomegaly, Myoc... ORPHA:330001
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Umbilical hernia, Delayed epiphyseal ossificati... ORPHA:226313
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Reduced ejection fraction, Hepatomegaly, Sudden cardiac death, Cardio... OMIM:201475
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia OMIM:229700
Glutamine Deficiency, Congenital
Hypoglutaminemia, Camptodactyly, Flexion contracture, Hyperammonemia, Bradycardia OMIM:610015
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:259720
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Atypical Werner Syndrome
Osteoporosis, Developmental cataract, Sclerosis of hand bone, Chondrocalcinosis, Generalized lipo... ORPHA:79474
Williams Syndrome
Abnormal dental enamel morphology, Joint laxity, Abnormal endocardium morphology, Mitral regurgit... ORPHA:904
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Small for gestational age, Elevated circulating ... OMIM:618775
Anomalous pulmonary venous return, Osteopetrosis, Increased bone mineral density, Failure to thri... ORPHA:35107
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Dense calvaria, Hepatomegaly, Joint stiffness, Cardiomegaly, Splen... OMIM:252920
Erdheim-Chester Disease
Osteolysis, Abnormal aortic valve morphology, Abnormal pericardium morphology, Weight loss, Incre... ORPHA:35687
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Massively thickened long bone cortices, Increased bone mineral... ORPHA:1798
Arthrogryposis multiplex congenita, Generalized osteosclerosis, Joint contracture of the hand, Fa... OMIM:602398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis OMIM:618476
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnorm... ORPHA:2658
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart failure, Heart m... ORPHA:615
Raine Syndrome
Hypophosphatemia, Arthrogryposis multiplex congenita, Enamel hypoplasia, Increased bone mineral d... OMIM:259775
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Tatton-Brown-Rahman Syndrome
Joint hypermobility, Atrial septal defect, Supraventricular tachycardia with an accessory connect... ORPHA:404443
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Umbilical hernia, Increased serum beta-hexosaminidase, Hepatomegaly, Megalo... OMIM:252500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia, Failure to thrive OMIM:614407
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Shortened PR interval, Cardiomegaly, Splenomegaly, ... OMIM:232300
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Hepatomegaly, Heart murmur, Shortened PR interval, Le... ORPHA:308552
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Increased circulating thyrogl... ORPHA:90673
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Acute Intermittent Porphyria
Tachycardia, Hyponatremia, Hypertension ORPHA:79276
Renal Nutcracker Syndrome
Weight loss, Tachycardia, Orthostatic hypotension, Syncope ORPHA:71273
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries,... OMIM:617877
Carney Triad
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage ORPHA:139411
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Hepatosplenomegaly, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Mirizzi Syndrome
Hyperbilirubinemia, Tachycardia ORPHA:521219
Paragangliomas 4
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:115310
Blomstrand Lethal Chondrodysplasia
Cataract, Synostosis of joints, Increased bone mineral density ORPHA:50945
Necrotizing Enterocolitis
Abnormal heart morphology, Hypotension, Hyponatremia, Small for gestational age, Shock, Bradycardia ORPHA:391673
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Decreased plasma total carnitine, Arrhythmia, Decreased plasma fr... ORPHA:228308
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonata... ORPHA:90674
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Antecubital pter... ORPHA:40366
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Recurrent fractures, Osteopetrosis, Hepatomegal... ORPHA:667
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Arrhythmia, Endocarditis, Hematemesis, Hypotension, Hepatomegaly, Arthritis, Mydriasis, Tachycard... ORPHA:707
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly, Splenomegaly, Hypocalcemic seiz... OMIM:612301
Arrhythmia, Abnormal cardiac ventricular function, Bone cyst, Scarring, Abnormal conjunctiva morp... ORPHA:797
45,X/46,Xy Mixed Gonadal Dysgenesis
Developmental glaucoma, Tachycardia, Prolonged QT interval, Bicuspid aortic valve, Obesity ORPHA:1772
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia, Failure to thrive OMIM:619272
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed pubic bone ossification, Increased susceptibility to fractures, Increa... OMIM:119600
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Arrhythmia, Flexion contracture of finger, Adipose tissue loss, Flexion ... OMIM:256040
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Bradycardia OMIM:617397
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Opacification of the corneal stroma, Cardiomegaly, Mitr... OMIM:231005
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Proximal Spinal Muscular Atrophy
Atrial septal defect, Flexion contracture, Multiple joint contractures, Knee flexion contracture,... ORPHA:70
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Cockayne Syndrome B
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:133540
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Omphalocele, D... OMIM:306955
Steinert Myotonic Dystrophy
Hypercholesterolemia, Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular sys... ORPHA:273
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Glossopharyngeal Neuralgia
Weight loss, Bradycardia, Jaw claudication, Syncope ORPHA:221098
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Bradycardia ORPHA:565624
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Congenital contracture, Fixed elbow flexion, Cardiomegaly, S... ORPHA:97297
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hyponatremia, Bradycardia, Obesity ORPHA:91355
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis, Enamel hypoplasia, Abnormal blood ion concentration, Abnormal cornea morphology, Fa... ORPHA:79404
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Atrial septal defect, Failure to thrive, Sclerosis of skull base... OMIM:269150
Encephalitis Lethargica
Stiff neck, Bradycardia ORPHA:83600
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Bradycardia, Umbilical hernia OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Ib
Joint hypermobility, Pulmonary insufficiency, Inguinal hernia, Congenital diaphragmatic hernia, B... OMIM:614437
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Bradycardia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia ORPHA:226307


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 Secisbp2l

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 Secisbp2l.

No publications found that use IMPC mice or data for Secisbp2l.

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MGI Allele Allele Type Produced
Secisbp2lem1(IMPC)J Exon Deletion Mice
Secisbp2ltm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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