banner
Genes Phenotypes Help, News, Blog

Gene: P2ry14 MGI:2155705

Log in to follow

Gene Summary

Name:
purinergic receptor P2Y, G-protein coupled, 14
Synonyms:
Gpr105,  A330108O13Rik,  P2Y14

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased circulating alanine transaminase level P2ry14em1(IMPC)H HOM Late adult 2.18×10-16
increased total body fat amount P2ry14em1(IMPC)H HOM Early adult 1.49×10-07
decreased fasting circulating glucose level P2ry14em1(IMPC)H HOM   Late adult 5.36×10-06
long tibia P2ry14em1(IMPC)H HOM Early adult 2.94×10-06
increased circulating aspartate transaminase level P2ry14em1(IMPC)H HOM Late adult 5.25×10-14

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Echo

M-Mode Images

120 Images

View images

Human diseases caused by P2ry14 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 P2ry14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Hypertension, Respir... OMIM:121300
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg... ORPHA:45452
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, ... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Re... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, H... ORPHA:276575
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Paroxysmal atr... ORPHA:3282
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Impaired glucose tolerance, Gastroparesis, Left bundle branch block, Glucose intolerance, Abnorma... OMIM:610131
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidros... ORPHA:276556
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Abdominal pain, Dil... ORPHA:563
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancr... ORPHA:276608
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Gastroparesis OMIM:619223
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Howell-Jolly bodies, Gastroparesis, Nonp... ORPHA:85443
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Respiratory insufficiency due to m... ORPHA:70
Variegate Porphyria
Tachycardia, Constipation, Vomiting, Abdominal pain OMIM:176200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Hyperthyroidism, Diabetes mellitus, Gastroparesis, Goiter, Dilated cardiomyo... ORPHA:254892
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Feeding difficulties, Cardiomyopathy, Dysphagia, Supraventricular tach... OMIM:255100
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Vomiting, Macrovesic... OMIM:600649
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Hypertension, Glucose in... OMIM:610947
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Failure to... ORPHA:264675
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childhood-onset truncal obesity ORPHA:71529
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypertension, Hepatic stea... ORPHA:79084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Mungan Syndrome
Tricuspid regurgitation, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperist... OMIM:611376
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Abdominal pain, Dyspnea, Hypoxemia, Syncope, Vomiting, Palpita... ORPHA:464453
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body ... ORPHA:263455
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Tachycardia, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea... ORPHA:330012
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphagia, Intracranial he... ORPHA:449285
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Prader-Willi Syndrome
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Card... OMIM:212138
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis, Small for gestational age, Respiratory insufficiency, Hypertension, Arrhythmia, Hy... OMIM:614052
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Hyperhidrosis, Abnormal EKG, Hepatomeg... ORPHA:1329
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Glomus jugular tumor, Adrenal pheochro... OMIM:605373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... ORPHA:263297
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:98754
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Apnea, Hypoglycemia, Dyspnea, Hyperventilation OMIM:229700
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:98793
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:177904
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Exertional dyspnea ORPHA:90037
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:177901
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Resp... ORPHA:330021
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Respiratory distress, Small for gestational age... ORPHA:26793
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Gastroparesis, ... ORPHA:79329
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Cardiomeg... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Left ventri... OMIM:613873
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Gastroparesis, ... OMIM:619350
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Hypotension, Postural hypot... ORPHA:369873
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Sepsis In Premature Infants
Abnormal mucociliary clearance, Gastrointestinal dysmotility, Vomiting, Neutropenia, Hepatomegaly... ORPHA:90051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli... OMIM:619290
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Respiratory paralysis, Vomi... OMIM:176000
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... ORPHA:348
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Poor appetite, Heart block, Diarrhea, Tachypnea, Capillary leak, Hypoxemia, Pleural ... ORPHA:542323
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Apnea, Hypoglycemia, Feeding difficulties in infancy, Congestive heart failure, Bra... OMIM:619048
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Mediasti... ORPHA:139411
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Hyperinsulinemic Hypoglycemia, Familial, 4
Feeding difficulties, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Insulin resi... OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter OMIM:188580
Chops Syndrome
Gastroparesis, Splenomegaly, Obesity, Gastroesophageal reflux, Constipation, Aspiration pneumonia... OMIM:616368
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Abdominal pain, Thrombocytopenia, Leukocytosis, Jaundice, D... ORPHA:91547
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Systemic Sclerosis
Pericarditis, Gastroparesis, Nail bed telangiectasia, Bowel incontinence, Right ventricular failu... ORPHA:90291
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Tetanus
Respiratory distress, Tachycardia, Bowel incontinence, Abdominal pain, Tachypnea, Hypertension, B... ORPHA:3299
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocy... ORPHA:3392
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Failure to t... OMIM:606528
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Dysphagia, Cough, Abnormal patt... ORPHA:77260
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron... ORPHA:90033
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Gastrointestinal dysmotil... OMIM:603041
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Mi... OMIM:616201
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia ORPHA:1876
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... OMIM:540000
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension, Insulin-resistant dia... ORPHA:280356
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Hyperhidrosis, Hypertension, Anemia OMIM:184850
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Pneumonia, Cardiomegaly, Ventricular tachycardia, Atrioventr... OMIM:601005
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia,... ORPHA:49827
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hypergonadotropic hypogonadism, Obesity, Feeding difficulties, Hyperglycemia OMIM:619737
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomy... ORPHA:159
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Decreased serum insulin-like growth factor 1, Hypoglycemia, Sudden car... OMIM:614921
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, H... ORPHA:137675
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... OMIM:171420
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... OMIM:600955
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Hereditary Coproporphyria
Tachycardia, Small intestinal dysmotility, Abdominal pain, Respiratory insufficiency, Hepatocellu... ORPHA:79273
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cholera
Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Hypovolemic shock, ... ORPHA:173
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Hydroxykynureninuria
Stomatitis, Tachycardia, Hypotension, Breathing dysregulation ORPHA:79155
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Gastroparesis ORPHA:70595
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Diarrhea, Dilated cardiomyopathy, Constipation,... OMIM:601419
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Dilated cardiomyopathy, Respiratory insufficiency, ... OMIM:607459
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Dysphagia, Hyperhidrosis, Aspiration pneumonia, Tube feeding ORPHA:79264
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Tenorio Syndrome
Apnea, Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Syncope, Gastroesophageal reflux, R... OMIM:616260
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Hypogonadism, Elevated... OMIM:602668
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Hyperhidrosis, Blo... ORPHA:90068
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Apnea, Retinal hemorrhage, Hyperhidrosis, Stridor, Hy... OMIM:614653
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ... OMIM:609152
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestat... ORPHA:79644
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Episodic hyperhidrosis, Di... OMIM:223900
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose intolerance,... OMIM:606069
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Apnea, Cardiac arrest, Feeding difficulties, Vomiting, Bradycardia, Hypertrophic ca... OMIM:618235
Porphyria Variegata
Tachycardia, Abdominal pain, Ileus, Hypertension, Abnormality of the liver, Respiratory paralysis... ORPHA:79473
Naxos Disease
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... ORPHA:34217
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bra... ORPHA:66529
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Abdominal pain, Con... OMIM:235200
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Graft Versus Host Disease
Tachycardia, Pneumonia, Abdominal pain, Jaundice, Diarrhea, Lymphadenopathy, Chronic hepatitis, H... ORPHA:39812
Necrotizing Enterocolitis
Shock, Apnea, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, Diarrhe... ORPHA:391673
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyp... OMIM:604367
Serotonin Syndrome
Tachycardia, Diarrhea, Tachypnea, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Tachypnea, Heart murmur, Feeding difficulties, Pulmonic stenosis... ORPHA:3426
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Scorpion Envenomation
Bundle branch block, Tachypnea, Hyperhidrosis, Vomiting, Prominent U wave, Hyperglycemia, Abdomin... ORPHA:466677
Acute Intermittent Porphyria
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respirat... ORPHA:79276
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Poor appetite, Megaloblastic anemi... ORPHA:35858
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Feeding difficulti... OMIM:620265
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Sphero... ORPHA:71275
American Trypanosomiasis
Hepatomegaly, Abnormal large intestine physiology, Abdominal pain, Myocarditis, Congestive heart ... ORPHA:3386
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gastroparesis, Hypergonadotropic hypogonadism, Dysphagia, Testicular atrophy OMIM:157640
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Hyperinsulinemia, Hypertension, Respiratory failure, Cirrhosis,... ORPHA:363400
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence OMIM:618877
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Hyperhidrosis, Intracranial hemorrhage, Vomiting, Cough, Internal hemorrhag... ORPHA:340
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Abnormal circulating insuli... ORPHA:293964
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Exertional dyspnea ORPHA:90036
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste... ORPHA:226313
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Congenital Fibrinogen Deficiency
Tachycardia, Abdominal pain, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, ... ORPHA:335
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Feeding difficulties, H... OMIM:614702
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia, Exertional dyspnea ORPHA:368
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Mirizzi Syndrome
Tachycardia, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pancreatitis, Jaundice, Abdominal... ORPHA:521219
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia OMIM:617173
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, Paralytic ileus, Hypertension, C... ORPHA:139417
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f... ORPHA:352665
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Neonatal a... ORPHA:79237
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... ORPHA:330001
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Cho... ORPHA:99827
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure, Feeding d... ORPHA:60041
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Hyperhidrosis, Adrena... OMIM:115310
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Nausea, Abdominal pain, Myocardit... ORPHA:36234
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Vomit... ORPHA:79319
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... OMIM:171300
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Nausea, Congestive hea... ORPHA:31826
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Abnormal intrahepatic bile du... ORPHA:485405
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Weight loss, Neoplasm of the liver, Re... ORPHA:2126
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Danon Disease
Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, V... OMIM:300257
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... OMIM:601214
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Diarrhea, Hyper... ORPHA:230
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Cardiomegaly, Left ventric... ORPHA:57777
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... ORPHA:525731
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Elevated circulating thyroid-stimulating hormone concentration, ... ORPHA:95717
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Hypothyroidism, Ven... OMIM:616878
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Feeding difficulties in infancy, Congestive heart failure, Severe... ORPHA:444013
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Dysphagia, Hyperhidrosis, Hypert... ORPHA:94093
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... OMIM:600785
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... OMIM:115197
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Marburg Hemorrhagic Fever
Anorexia, Nonproductive cough, Odynophagia, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymph... ORPHA:99826
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Feeding difficulties in inf... ORPHA:1764
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Orthopnea, Cardiomegaly, Congesti... ORPHA:980
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Neonatal hypoglycemia, Left axis deviation, C... OMIM:261740
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Gastroesophageal reflux, Bradycardia OMIM:617182
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe... ORPHA:95716
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Gastroparesis, Failure to thrive in infancy, Feedi... ORPHA:500150
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, ... ORPHA:97214
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea, Anemia ORPHA:71273
Occipital Horn Syndrome
Gastroparesis, Jaundice, Hepatitis, Cholestasis, Gastroesophageal reflux, Esophagitis, Dysphagia,... ORPHA:198
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:203800
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocyto... ORPHA:505248
Gitelman Syndrome
Prolonged QT interval, Abdominal pain, Ventricular tachycardia, Increased circulating renin level... OMIM:263800
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Feeding difficulties in infancy, Cardiorespiratory arrest, Stridor, Bronchospasm, Gastroes... OMIM:608800
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular ... ORPHA:423
Tibial Hemimelia
Absent tibia OMIM:275220
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Fasting hypogly... ORPHA:2298
Developmental And Epileptic Encephalopathy 101
Apnea, Feeding difficulties, Gastroesophageal reflux, Third degree atrioventricular block, Bradyc... OMIM:619814
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Abnorm... ORPHA:79086
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Autoimmune Hypoparathyroidism
Prolonged QT interval, Abdominal symptom, Autoimmune hypoparathyroidism, Dyspnea, Abnormal left v... ORPHA:36913
Cardiospondylocarpofacial Syndrome
Gastroparesis, Feeding difficulties, Mitral regurgitation, Gastroesophageal reflux, Failure to th... OMIM:157800
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Aspiration, Failure to thrive, Hypoketot... OMIM:610768
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Dyspnea, Hy... OMIM:230800
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Congestive heart failure, Insulin... ORPHA:528
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Plague
Respiratory distress, Hepatomegaly, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Lymphaden... ORPHA:707
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricular hypertrop... OMIM:618321
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Dilated ... ORPHA:71212
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... ORPHA:542306
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Abnormal atrioventricular conduction, Supraventricular arrhythmi... ORPHA:280365
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... OMIM:615745
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Leukocytosi... OMIM:603903
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... ORPHA:91347
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula, Inguinal hernia ORPHA:935
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Obesity ORPHA:3085
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Dyspnea, Vacuolated lymphocytes, ... ORPHA:565612
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:91355
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Feeding difficulties in infancy, Elevated circulating thyroid-stimulating hormone concent... ORPHA:90673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Feeding difficulties in infancy, Normoch... OMIM:618775
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Diarrhea, Steatorrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Hy... OMIM:602579
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Hyperhidrosis, Iron deficiency anemia, Glucose intoleran... ORPHA:358
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Failure to thrive, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Donohue Syndrome
Precocious puberty, Abdominal distention, Hyperinsulinemia, Cholestasis, Severe failure to thrive... OMIM:246200
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hypot... ORPHA:797
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Intestinal pseudo-o... ORPHA:273
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Dyspnea, Hyp... ORPHA:90041
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology ORPHA:2849
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Ogden Syndrome
Apnea, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia... OMIM:300855
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperten... OMIM:151660
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... ORPHA:79102
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Gastroesophageal reflux, Hepatomeg... OMIM:619488
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Hyperhidro... ORPHA:319213
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... ORPHA:98853
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Premature ventricular contraction OMIM:617072
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated circulating thy... OMIM:218700
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Dysphagia, Feeding difficulties, Hypopnea, Respiratory failure, Bradycardia, Neu... OMIM:617248
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insuffi... ORPHA:98863
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Feeding difficulties in infancy, ... ORPHA:90674
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Atelis Syndrome 2
Thrombocytopenia, Dyspnea, Elevated circulating thyroid-stimulating hormone concentration, Hyperi... OMIM:620185
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cardiomegaly, Tachypnea, Abnormal heart valve physiology, Hypo... ORPHA:3384
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Streak ovary, Increased circulating gonadotropin level, Obesi... ORPHA:1772
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Tachycardia, Tricuspid regurgitation, Respiratory failure req... ORPHA:99125
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... OMIM:608594
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Insuli... ORPHA:769
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, ... OMIM:269700
Leprechaunism
Hepatomegaly, Enlarged ovaries, Abdominal distention, Insulin resistance, Hyperinsulinemia, Centr... ORPHA:508
Prader-Willi Syndrome
Hypoventilation, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... OMIM:176270
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,... OMIM:620066
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, Hepatopulmonary fusion, Tracheomalacia, Enlarged kidney OMIM:618280
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Telangiectasia of the skin, Abnormal circulating leptin con... ORPHA:79474
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Nausea, Hematemesis, Abdomi... ORPHA:99829
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure, Hypohidrosis OMIM:181270
Marshall-Smith Syndrome
Apnea, Premature ventricular contraction, Stridor, Hypertension, Feeding difficulties, Aspiration... OMIM:602535
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... OMIM:248370
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, High urinary gonadotr... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, High urinary gonadotr... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, High urinary gonadotr... ORPHA:99228
Monosomy X
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, High urinary gonadotr... ORPHA:99226
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia OMIM:309801
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Hypogonadotropic hypogonadism, Elevated circ... ORPHA:79318
Legius Syndrome
Paroxysmal atrial tachycardia, Acute monocytic leukemia, Pulmonic stenosis ORPHA:137605

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 P2ry14

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 P2ry14.

No publications found that use IMPC mice or data for P2ry14.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
P2ry14em1(IMPC)H Exon Deletion Mice
P2ry14em2(IMPC)H Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter