Gene Summary

Name:
SECIS binding protein 2-like
Synonyms:
3110001I20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating alanine transaminase level Secisbp2lem1(IMPC)J HOM Late adult 5.09×10-11
abnormal lens morphology Secisbp2lem1(IMPC)J HOM   Late adult 8.71×10-08
increased lean body mass Secisbp2lem1(IMPC)J HOM   Late adult 5.64×10-08
decreased total body fat amount Secisbp2lem1(IMPC)J HOM Late adult 1.36×10-06
decreased circulating aspartate transaminase level Secisbp2lem1(IMPC)J HOM Late adult 3.68×10-12
increased bone mineral content Secisbp2lem1(IMPC)J HOM   Late adult 2.70×10-06
increased lean body mass Secisbp2lem1(IMPC)J HOM   Early adult 4.12×10-05
decreased mean corpuscular hemoglobin Secisbp2lem1(IMPC)J HOM Late adult 7.37×10-06
increased startle reflex Secisbp2lem1(IMPC)J HOM Early adult 9.44×10-11
abnormal auditory brainstem response Secisbp2lem1(IMPC)J HOM   Early adult 1.21×10-06
increased bone mineral density Secisbp2lem1(IMPC)J HOM   Early adult 1.15×10-05
increased heart rate Secisbp2lem1(IMPC)J HOM   Late adult 1.32×10-05
increased aggression Secisbp2lem1(IMPC)J HOM Early adult 6.79×10-05

Download data as:  TSV  XLS

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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

15 Images

Electrocardiogram (ECG)

Waveform Image

17 Images

X-ray

XRay Images Forepaw

1 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

1 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

1 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
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:615184
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Optic atrophy from cranial nerve ... OMIM:239100
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Hyperostosis Corticalis Generalisata
Sensorineural hearing impairment, Generalized osteosclerosis, Facial palsy, Abnormal cortical bon... ORPHA:3416
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Facial palsy, Optic atrophy, Hearing impairment ORPHA:178377
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Increased bone mineral density, Crani... OMIM:241520
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Clavicular sclerosis, Generalized osteosclerosis, Facial palsy,... ORPHA:2790
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Cardiomyopathy, Dilated, 2F
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... OMIM:619747
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Sclerosteosis
Sensorineural hearing impairment, Increased bone mineral density, Optic atrophy, Facial palsy, Ab... ORPHA:3152
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:255100
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosi... OMIM:607634
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... OMIM:136300
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Abnormal bone structure, Anemia, Splenomegaly ORPHA:46532
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,... ORPHA:1344
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofaci... OMIM:122860
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmona... ORPHA:217607
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Facial... OMIM:166600
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Endosteal Hyperostosis, Autosomal Dominant
Sensorineural hearing impairment, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphysea... OMIM:144750
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertr... ORPHA:276556
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Syncope, Ventricular tachycardia, A... OMIM:613838
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Cranial nerve compression, Osteosclerosis... ORPHA:210110
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertr... ORPHA:276575
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Increased C-peptide level, Palpitations, Tachycardia, Syncope, Large f... ORPHA:324575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ma... ORPHA:71275
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... OMIM:145600
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Large for gestational age, Hypertr... ORPHA:276580
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Tachycardia, Increased total bilirubin, Autoimmune hemolytic anemia, Congestive hea... ORPHA:90037
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Peripartum Cardiomyopathy
Left bundle branch block, Abnormal T-wave, Sinus tachycardia, Mitral regurgitation, Right ventric... ORPHA:563
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia, Hyperkalemia OMIM:141000
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia, Palpitations, Tachycardia OMIM:188580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ta... ORPHA:91547
Coproporphyria, Hereditary
Hypertension, Tachycardia, Splenomegaly OMIM:121300
Variegate Porphyria
Tachycardia OMIM:176200
Myotonic Dystrophy 2
Premature ventricular contraction, Palpitations, Elevated circulating creatine kinase concentrati... OMIM:602668
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocyti... ORPHA:35858
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level,... ORPHA:264675
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... ORPHA:26793
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acquired Methemoglobinemia
Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Osteogenesis Imperfecta, Type Xiii
Protruding ear, Decreased body weight, Increased bone mineral density, Osteoporosis, Joint hyperm... OMIM:614856
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Flexion contracture, Splenomegaly, Osteopenia, Elevated circulating creatine k... OMIM:613327
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Elevated circulating creatine kinase concentration, Dilated cardiomyopat... OMIM:600649
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Paget Disease Of Bone 3
Fractures of the long bones, Hearing impairment, Osteolysis, Patchy osteosclerosis OMIM:167250
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Osteopetrosis, Abnormal cranial ... ORPHA:1522
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Dilated cardiomyopathy, Atrial fibrillation, Hypertrophic cardiomyo... OMIM:612158
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Hypertrophic cardiomyopathy, Abn... ORPHA:848
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... ORPHA:449285
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis... OMIM:259700
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia, Tachycardia OMIM:613239
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Tachycardia,... ORPHA:368
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Tachycardia ORPHA:90036
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Failure to thrive, Facial palsy, Osteopetrosis OMIM:615085
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Decreased body weight, Pulmonic stenosis, Mitral regurgitation, Sick sinus syn... OMIM:616201
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia ORPHA:276608
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Optic ... ORPHA:1782
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Atrial fibrillation, Hypertrophic cardiom... OMIM:613873
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials, Total intestinal aganglionosis, H... OMIM:600501
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... OMIM:171420
Tularemia
Leukocytosis, Tachycardia, Anemia, Thrombocytopenia, Conjunctivitis, Conjunctival hyperemia ORPHA:3392
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Laryngeal dystonia, Anxiety, Increased bone... ORPHA:94089
Tetanus
Hypertension, Elevated circulating creatine kinase concentration, Tachycardia, Bradycardia ORPHA:3299
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... ORPHA:90650
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Cirrhotic Cardiomyopathy
Abnormal A-type atrial natriuretic peptide level, Third heart sound, Increased circulating NT-pro... ORPHA:57777
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Failure to thrive, Wolff-Parkinson-White syndrome, Supravent... ORPHA:137675
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Facial palsy, Osteoarthritis, Arthr... ORPHA:53
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... OMIM:300952
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Diastrophic Dysplasia
Large earlobe, Joint stiffness, Increased bone mineral density, Overfolded helix, Camptodactyly o... ORPHA:628
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Hereditary Coproporphyria
Abnormal circulating porphyrin concentration, Tachycardia, Atypical scarring of skin, Hyponatremia ORPHA:79273
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... ORPHA:542323
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Develop... OMIM:171300
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Increased bone mineral density, Ventricular arr... ORPHA:36913
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Cranial nerve... OMIM:259710
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic ... ORPHA:1329
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Orthostatic hypotension, Tachycardia, Osteolysis, Cor... ORPHA:1764
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Cellulitis, Elevated circulating creatine ki... ORPHA:36234
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Flexion contracture, Contractures of the interphalangeal joint of the ... OMIM:613870
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Tachycardia OMIM:619737
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Sepsis In Premature Infants
Decreased body weight, Elevated circulating C-reactive protein concentration, Leukocytosis, Splen... ORPHA:90051
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, T... ORPHA:94093
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Congestive he... ORPHA:90033
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Abnormal circulating fatty-acid concentration, Tachycardia, Large for g... ORPHA:263455
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Congenital Fibrinogen Deficiency
Tachycardia, Developmental cataract, Internal hemorrhage, Splenic rupture ORPHA:335
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Failure to thrive, Recurrent fractures, Increased bone mineral ... OMIM:239000
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophi... OMIM:618815
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... ORPHA:159
Cardiomyopathy, Dilated, 1D
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Increased le... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... OMIM:613690
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Cardiac shunt, Left ventricular outflow tract obstruction, Small for gestation... ORPHA:860
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Paroxysmal atrial tachycardia, Thrombocytopenia, Cardiac arrest, Congestive... ORPHA:49827
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Torsade de pointes, Hyperammonemia, Elevated ci... OMIM:616878
Porphyria Variegata
Tachycardia, Abnormal circulating porphyrin concentration, Hyponatremia, Scarring, Anemia, Hypert... ORPHA:79473
Scorpion Envenomation
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... ORPHA:466677
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Recurren... OMIM:223900
Graft Versus Host Disease
Failure to thrive, Hyperbilirubinemia, Hemophagocytosis, Dupuytren contracture, Hepatosplenomegal... ORPHA:39812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Supraventricular a... ORPHA:280365
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... ORPHA:77297
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Arthrogryposis, Distal, Type 2A
Failure to thrive, Recurrent fractures, Flexion contracture of finger, Hip contracture, Joint con... OMIM:193700
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis, Optic atrophy, Optic disc pallor, Facial palsy OMIM:611490
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Coarse metaphyseal trabecularization, Increased bone mineral densi... ORPHA:2780
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tricuspid regurgitation, Flexion contracture, Hypertrophic cardiomyopathy, Mitral regurgitation, ... ORPHA:505248
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Exaggerated startle response, Emotional lability ORPHA:3198
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... ORPHA:97214
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Chondrocalcinosis, Palpitations, Increased circul... OMIM:263800
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Mercury Poisoning
Hypertension, Hypokalemia, Tachycardia, Hypotension ORPHA:330021
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Pericarditis, Reticulocytosis, Elevated circulatin... ORPHA:99826
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Hemorrhagic Fever-Renal Syndrome
Melena, Decreased body weight, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial... ORPHA:340
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Elevated circulating creatine kinase concentration, Tachycardia, Dilated ca... OMIM:614921
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Low-set, posteriorly rotated ears ORPHA:1237
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Facial paralysis, Clavicular sclerosis, Optic atrophy, Scler... OMIM:224300
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231214
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia, Pulmonic stenosis, Tachycardia, Heart murmur ORPHA:3426
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Tachycardia ORPHA:485405
Stiff-Person Syndrome
Hypertension, Anemia, Tachycardia OMIM:184850
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis, Pancytopenia,... ORPHA:99827
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... ORPHA:173
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, Fl... ORPHA:99027
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Tachycardia, Hyperuricemia ORPHA:348
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Cataract, Dilated cardiomyopathy, Pancytopenia OMIM:618321
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Pycnodysostosis
Increased bone mineral density, Mild conductive hearing impairment, Coronal craniosynostosis, Gen... ORPHA:763
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Decreased osteoclast count, Osteopetrosis, Optic atrophy, Optic d... OMIM:259720
Autosomal Recessive Hypophosphatemic Rickets
Sensorineural hearing impairment, Pseudo-fractures, Rickets of the lower limbs, Hypophosphatemic ... ORPHA:289176
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Keratoconus, Prolonged PR interval, B... ORPHA:542306
Ethylene Glycol Poisoning
Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... ORPHA:31826
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... OMIM:613426
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Anxiety, Exaggerated startle response ORPHA:309246
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Syncope, Weight loss, Anemia ORPHA:71273
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age OMIM:609152
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension, Mydriasis ORPHA:43116
Infantile Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Irritability, Opisthotonus, Cachexia, Opt... ORPHA:206436
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Flexion contracture, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Posteriorly rotated ears OMIM:617306
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase conc... OMIM:618775
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Increased bone mineral density, Laryngeal dystonia, Reduced bon... ORPHA:79443
Desmosterolosis
Large earlobe, Failure to thrive, Increased bone mineral density, Osteopetrosis, Low-set, posteri... ORPHA:35107
Carney Triad
Tachycardia, Arrhythmia, Gastrointestinal hemorrhage, Anemia, Hypertension ORPHA:139411
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Mitral regurgi... OMIM:612561
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response, Flexion contracture OMIM:609541
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Arrhythmia, D... OMIM:300257
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Decreased body weight, Blepharospasm, Increased bone mineral de... ORPHA:800
Werner Syndrome
Slender build, Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Otopalatodigital Syndrome Type 2
Failure to thrive, Abnormal pinna morphology, Carpal synostosis, Increased bone mineral density, ... ORPHA:90652
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Multiple joint contractures, Exaggerated startle response ORPHA:320406
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
12Q14 Microdeletion Syndrome
Tremor, Failure to thrive, Osteopoikilosis ORPHA:94063
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Laryngeal dystonia, Ectopic ossification, Anxiety, Obesity, Irrit... ORPHA:79444
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of hemoglobin F, Astigmatism, Umbilical hernia, Overweight OMIM:619769
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Papilledema, Weight loss, Sclerosis of hand bone ORPHA:2905
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia, Flexion contracture ORPHA:98791
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Optic nerve compression, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Trichothiodystrophy
Multiple joint contractures, Protruding ear, Increased bone mineral density, Craniosynostosis, In... ORPHA:33364
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
Raine Syndrome
Abnormal pinna morphology, Protruding ear, Increased bone mineral density, Mixed hearing impairme... OMIM:259775
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Optic atrophy, Tremor, Foot joint contrac... ORPHA:90321
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Craniosynostosis, Reduced bone mineral density, Arthritis, Vert... ORPHA:89936
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Osteopenia, ... ORPHA:355
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Increased bone mineral density, Osteopetrosis, Joint hyperflexibility, Macrotia,... ORPHA:2658
Sarcoidosis
Bone cyst, Eosinophilia, Leukopenia, Arrhythmia, Heart block, Keratoconjunctivitis sicca, Abnorma... ORPHA:797
Degcags Syndrome
Failure to thrive, Hiatus hernia, Hyperbilirubinemia, Congenital hypoplastic anemia, Craniosynost... OMIM:619488
Kenny-Caffey Syndrome, Type 2
Papilledema, Thickened cortex of long bones, Increased bone mineral density, Small for gestationa... OMIM:127000
Desmosterolosis
Failure to thrive, Joint contracture of the hand, Cupped ear, Generalized osteosclerosis, Arthrog... OMIM:602398
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Optic atrophy, Joint laxity, ... OMIM:617301
Cockayne Syndrome B
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... OMIM:133540
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Mitral regurgitation, Myeloid leukemia, Supraventricular tachycardia wit... ORPHA:404443
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Acute Intermittent Porphyria
Hypertension, Tachycardia, Hyponatremia ORPHA:79276
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Osteopetrosis OMIM:618476
Lead Poisoning
Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... ORPHA:330015
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Palpitations, Elevated circulating creatine kinase concentration, Arrhythmia, ... ORPHA:254892
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:115310
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Hyperbilirubinem... OMIM:300855
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Small for gestational age, Low voltage EEG, ... ORPHA:171929
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Absence Of The Pulmonary Artery
Systolic heart murmur, Tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Atr... ORPHA:980
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Low-set ears, Posteriorly rotated ears OMIM:241410
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Shwachman-Diamond Syndrome 1
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... OMIM:260400
Cockayne Syndrome A
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... OMIM:216400
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Increased bone mineral density, Pathologic fracture OMIM:259900
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Erdheim-Chester Disease
Osteomyelitis, Weight loss, Osteolysis, Increased bone mineral density ORPHA:35687
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Failure to thrive, Exaggerated startle response, Hyperextensibi... ORPHA:521426
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia OMIM:617877
Tay-Sachs Disease
Laryngeal dystonia, Exaggerated startle response, Anxiety, Limited elbow extension, Optic atrophy... ORPHA:845
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, External ear malformation, Anxiety, Exaggerated startle response ORPHA:438216
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Low-set, posteriorly rotated ears OMIM:618598
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia ORPHA:79330
Sclerosteosis 1
Cortically dense long tubular bones, Papilledema, Facial palsy, Optic atrophy, Facial palsy secon... OMIM:269500
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Palpitations, Shortened PR... ORPHA:79102
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures ORPHA:77261
Blomstrand Lethal Chondrodysplasia
Low-set ears, Increased bone mineral density, Synostosis of joints ORPHA:50945
Sanjad-Sakati Syndrome
Patchy osteosclerosis, External ear malformation, Low-set, posteriorly rotated ears ORPHA:2323
Cleidocranial Dysplasia 1
Hearing impairment, Delayed pubic bone ossification, Increased bone mineral density, Increased su... OMIM:119600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Increased bone mineral density, Reduced bone mineral de... ORPHA:79474
Mend Syndrome
Failure to thrive, Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials ORPHA:401973
Legius Syndrome
Acute monocytic leukemia, Pulmonic stenosis, Multiple lipomas, Paroxysmal atrial tachycardia, Cat... ORPHA:137605
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Primary Hyperoxaluria
Recurrent fractures, Failure to thrive, Optic atrophy, Optic disc pallor, Generalized osteosclerosis ORPHA:416
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Arrhythmia, Peters anomaly, Iris... OMIM:309801
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Tremor, Optic... ORPHA:667
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Tachycardia, Prolonged QT interval, Developmental glaucoma ORPHA:1772
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
Williams Syndrome
Sensorineural hearing impairment, Joint stiffness, Protruding ear, Increased bone mineral density... ORPHA:904
Plague
Hematemesis, Splenomegaly, Tachycardia, Arrhythmia, Hypotension, Mydriasis, Conjunctival hyperemia ORPHA:707
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response, Optic atrophy, Contractures of the large joints,... OMIM:617527
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Hypokalemia, Osteopenia, Palpitations, Osteoporosis, Hypotension, Ve... ORPHA:91347
Steinert Myotonic Dystrophy
Supraventricular tachycardia, Prolonged QRS complex, Posterior subcapsular cataract, Astigmatism,... ORPHA:273
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Failure to thrive, Recurrent fractures, Cranial nerve compression,... ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Opisthotonus, Thickened cortex of long bones, Increas... OMIM:269150
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response, Flexion contracture OMIM:253800
Truncus Arteriosus
Abnormal heart valve physiology, Pulmonic stenosis, Hypoplasia of the thymus, Tachycardia, Aortic... ORPHA:3384
Gm1 Gangliosidosis Type 1
Hearing impairment, Low-set ears, Exaggerated startle response, Macrotia ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... OMIM:620066
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, Congenital diaphragmatic hernia OMIM:618280
Marshall-Smith Syndrome
Failure to thrive, Decreased body weight, Premature ventricular contraction, Craniosynostosis, Um... OMIM:602535
Congenital Total Pulmonary Venous Return Anomaly
Tricuspid regurgitation, Mitral regurgitation, Right ventricular failure, Tachycardia, Low-output... ORPHA:99125
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Osteopenia, Osteoporosis, Optic disc pallor, Joint laxity, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microtia, Small earlobe, Joint hypermobility, Low-set ears, Posteri... OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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
Secisbp2ltm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
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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