Gene Summary

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

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 fasting circulating glucose level P2ry14em1(IMPC)H HOM   Late adult 6.07×10-06
long tibia P2ry14em1(IMPC)H HOM Early adult 7.97×10-06
increased circulating alanine transaminase level P2ry14em1(IMPC)H HOM Late adult 1.81×10-14
increased total body fat amount P2ry14em1(IMPC)H HOM Early adult 8.93×10-08
increased circulating aspartate transaminase level P2ry14em1(IMPC)H HOM Late adult 1.89×10-12

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lacZ Expression

Expression data not available

Associated Images

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

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M-Mode Images

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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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge... ORPHA:324575
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... ORPHA:45452
Coproporphyria, Hereditary
Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Respiratory paralysis, Tachycardia, Dia... OMIM:121300
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pancreatic islet hyper... ORPHA:276556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Glucose intolerance, Constipation, Gastroesophageal reflux, Arrhythmia, Impair... OMIM:610131
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Ortho... OMIM:613838
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Immunodeficiency 77
Bronchiectasis, Gastroparesis, Chronic pulmonary obstruction, Recurrent tonsillitis OMIM:619223
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
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
Al Amyloidosis
Abnormal P wave, Jaw claudication, Hepatomegaly, Abdominal distention, Nonproductive cough, Xeros... ORPHA:85443
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Feeding difficulties, Respiratory insufficiency, Dysphagia, Cardiom... OMIM:255100
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Proximal Spinal Muscular Atrophy
Constipation, Gastroesophageal reflux, Poor suck, Recurrent aspiration pneumonia, Dysphagia, Rest... ORPHA:70
Paroxysmal Extreme Pain Disorder
Tachycardia, Rhinorrhea, Bradycardia OMIM:167400
Variegate Porphyria
Tachycardia, Constipation, Vomiting, Abdominal pain OMIM:176200
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Autosomal Dominant Progressive External Ophthalmoplegia
Failure to thrive, Glucose intolerance, Constipation, Gastroesophageal reflux, Hyperthyroidism, L... ORPHA:254892
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Respiratory arrest, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Vom... OMIM:600649
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Sudden cardiac death, Impaired glucose tolerance, Myocardial infarction, Dia... OMIM:610947
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Atrial arrhythmia, Systolic heart murmur, Right ... ORPHA:99105
Prader-Willi Syndrome
Central adrenal insufficiency, Vomiting, Decreased inhibin B level, Hypogonadism, Abdominal obesi... ORPHA:739
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Left ventricular hyper... OMIM:612098
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Tachypnea, Respiratory f... ORPHA:264675
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertension, Obesity ORPHA:71529
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... ORPHA:263455
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular... ORPHA:217607
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hypertension... ORPHA:79084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Mungan Syndrome
Tricuspid regurgitation, Abdominal pain, Pulmonic stenosis, Hypoperistalsis, Intestinal pseudo-ob... OMIM:611376
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Acquired Methemoglobinemia
Methemoglobinemia, Respiratory distress, Abdominal pain, Palpitations, Tachycardia, Arrhythmia, V... ORPHA:464453
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Intracranial hemorrhage, ... ORPHA:449285
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac arrest, N... ORPHA:70587
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Neonatal hypoglycemia, Hypotension, Hypoglycemia... OMIM:212138
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Failure to thrive, Small for gestational age, Respiratory insufficiency, Arrhythmia, Gastroparesi... OMIM:614052
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... ORPHA:552
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Tachycardia, Autoimmune hemolytic anemia, Exertional dyspnea, Congestive heart failure ORPHA:90037
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... ORPHA:90064
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Hepatomegaly, Tachycardia, Hypoglycemia, Hyperventilation, Dyspnea OMIM:229700
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Mgat2-Cdg
Respiratory distress, Failure to thrive, Abnormality of the endocrine system, Gastroesophageal re... ORPHA:79329
Prader-Willi-Like Syndrome
Central adrenal insufficiency, Decreased inhibin B level, Abnormality of the endocrine system, Pr... ORPHA:398073
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Mercury Poisoning
Respiratory distress, Episodic abdominal pain, Anorexia, Interstitial pneumonitis, Tachycardia, E... ORPHA:330021
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysis ORPHA:2768
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tachycardia, Dyspnea, At... OMIM:613873
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Episodic tachypnea, Small for gestational age, Feed... ORPHA:26793
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Failure to thrive, Hepatomegaly, Left ventricular outflow tract obstruction, Right... ORPHA:860
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Tachycardia, Diarrhea, Apneic episodes in... ORPHA:348
Visceral Myopathy 2
Gastroesophageal reflux, Necrotizing enterocolitis, Gastroparesis, Intestinal obstruction, Esopha... OMIM:619350
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Supraventricular tachycardia, Atrial flutter, Sudden cardiac death OMIM:615770
Mahvash Disease
Type II diabetes mellitus, Abdominal pain, Palpitations, Pancreatic alpha-cell hyperplasia, Recur... OMIM:619290
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Ventricular arrhyth... OMIM:601493
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Sepsis In Premature Infants
Hepatomegaly, Diarrhea, Vomiting, Abnormal mucociliary clearance, Gastrointestinal dysmotility, J... ORPHA:90051
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Diarrhea, Hypotension, Tachypnea, Vomiting, Reduced left ventricular eje... ORPHA:542323
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism OMIM:603373
Chops Syndrome
Sleep apnea, Constipation, Gastroesophageal reflux, Tracheomalacia, Aspiration pneumonia, Splenom... OMIM:616368
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hypoglycemia, Feeding diffi... OMIM:619048
Porphyria, Acute Intermittent
Paralytic ileus, Constipation, Abdominal pain, Respiratory paralysis, Tachycardia, Hepatocellular... OMIM:176000
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Carney Triad
Abdominal pain, Adrenocortical adenoma, Anorexia, Tachycardia, Arrhythmia, Mediastinal lymphadeno... ORPHA:139411
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Feeding difficulties OMIM:609975
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Palpitations, Tachycardia, Goiter, Weight loss OMIM:188580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Prolonged ... ORPHA:66529
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Relapsing Fever
Neutrophilia, Leukocytosis, Abdominal pain, Epistaxis, Tachycardia, Leukopenia, Diarrhea, Hypoten... ORPHA:91547
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Constipation, Feeding difficulties, Spl... OMIM:613327
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Exertional dy... ORPHA:90033
Systemic Sclerosis
Telangiectasia, Intestinal bleeding, Gastroesophageal reflux, Raynaud phenomenon, Right ventricul... ORPHA:90291
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Tetanus
Respiratory distress, Abdominal pain, Tachycardia, Tachypnea, Dysphagia, Hypertension, Bowel inco... ORPHA:3299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia, Feeding difficulties in in... OMIM:606528
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Dysphagia, Abnormal pattern of respirati... ORPHA:77260
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Paroxysmal atrial fibrillation, Ventricular tachycardia, Hypertrophic cardi... OMIM:612124
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal distention, Malnutrition, Abdominal pain OMIM:277320
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Left ventricular hypertrophy, Ventricular arrhythmia, Increased left ... OMIM:613424
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Anorexia, Diarrhea, Paroxysmal atrial tachycardia, Diabetes mellitus, Throm... ORPHA:49827
Tularemia
Respiratory distress, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical lymphade... ORPHA:3392
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Cachexia, Gastroparesis, Abdominal distention ORPHA:1876
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Abdominal cramps, Early satiety, Constipation, Abdominal pain, Cachexia, Diarrhea,... OMIM:603041
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Atrial cardiomyopath... OMIM:108770
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Feeding ... ORPHA:79644
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... OMIM:171420
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, T-w... OMIM:608751
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy, Atrial fibril... OMIM:612158
Combined Oxidative Phosphorylation Deficiency 54
Feeding difficulties, Hypergonadotropic hypogonadism, Tachycardia, Obesity, Hyperglycemia OMIM:619737
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Hepatomegaly, Ta... ORPHA:137675
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic failure, Hypoketotic hypoglycemia, Respiratory insufficiency, Arrhythmia, H... ORPHA:159
Hereditary Coproporphyria
Abdominal pain, Small intestinal dysmotility, Respiratory insufficiency, Tachycardia, Episodic vo... ORPHA:79273
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Sudden cardiac death, Tachycardia, Chronic hepa... OMIM:614921
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... OMIM:606762
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Goiter, Tachycardia, Weight loss OMIM:613239
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Hydroxykynureninuria
Breathing dysregulation, Stomatitis, Tachycardia, Hypotension ORPHA:79155
Cholera
Abdominal cramps, Abdominal pain, Hypovolemic shock, Aspiration pneumonia, Tachycardia, Diarrhea,... ORPHA:173
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Visceral Myopathy 1
Constipation, Abdominal distention, Pancreatitis, Abdominal pain, Diarrhea, Vomiting, Malnutritio... OMIM:155310
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Dilated cardiomyopathy, Gastroparesis ORPHA:70595
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Vomiting, Myocardial ... ORPHA:90068
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Respiratory insufficiency, Dilated cardiomyopathy, Dysphagia, Intestinal ps... OMIM:607459
Myopathy, Myofibrillar, 1
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... OMIM:601419
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Tenorio Syndrome
Apnea, Hypoinsulinemia, Gastroesophageal reflux, Raynaud phenomenon, Syncope, Hypoglycemia, Stoma... OMIM:616260
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... ORPHA:99103
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary obstruction, Splen... ORPHA:2414
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Neutrophilia, Diarrhea, Weight loss, Lymphadenopathy, Abnormal mast cell morphology... ORPHA:98849
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Hypertension, Anemia, Hyperhidrosis OMIM:184850
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Tube feeding, Episodic tachypnea, Aspiration pneumonia, Tachycardia, Dysphagia, Hyperhidrosis ORPHA:79264
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Arrhythmia, Impaired glucose tolerance, Diabetes me... OMIM:606069
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Gastroesophageal reflux, Feeding difficulties, Poor suck, Tachycardia, Retinal hemorrhage,... OMIM:614653
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Myotonic Dystrophy 2
Type II diabetes mellitus, Premature ventricular contraction, Palpitations, Tachycardia, Insulin ... OMIM:602668
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Constipation, Gastroesophageal reflux, Orthostatic hypotension, Tachycardia, Diarrhea, Vomiting, ... OMIM:223900
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Hyperhidrosis, Cardiomyopat... ORPHA:34217
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Hemochromatosis, Type 1
Glucose intolerance, Testicular atrophy, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, H... OMIM:235200
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Necrotizing Enterocolitis
Apnea, Bloody diarrhea, Abdominal distention, Leukocytosis, Small for gestational age, Peritoniti... ORPHA:391673
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Small for gestational age, Tachycardia, Thyroid hyperplasia, Goiter OMIM:609152
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... ORPHA:66628
Serotonin Syndrome
Hepatic failure, Tachycardia, Diarrhea, Hypotension, Tachypnea, Nausea, Hypertension, Hyperhidrosis ORPHA:43116
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Porphyria Variegata
Ileus, Constipation, Inappropriate antidiuretic hormone secretion, Abdominal pain, Respiratory pa... ORPHA:79473
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Scorpion Envenomation
Diarrhea, Glycosuria, Vomiting, Myocarditis, Hyperhidrosis, Hyperglycemia, Bundle branch block, T... ORPHA:466677
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Maternal diabetes, Insulin-resistant diab... OMIM:604367
Young-Onset Parkinson Disease
Diarrhea, Constipation, Gastroparesis, Nausea ORPHA:2828
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Syncope, Atrial fibrillat... OMIM:163800
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Feeding difficulties, Pulmonic stenosis, Tachycardia, Tach... ORPHA:3426
Graft Versus Host Disease
Recurrent gastroenteritis, Failure to thrive, Hemophagocytosis, Abdominal pain, Chronic hepatitis... ORPHA:39812
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Decreased body weight, Pulmonic stenosis, Mitral regurgitation, Sick sinus syn... OMIM:616201
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Erythrocytosis, Familial, 1
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Testicular atrophy, Dysphagia, Gastroparesis OMIM:157640
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Tachycardia, Anisopoikilocyto... ORPHA:35858
Acute Intermittent Porphyria
Ileus, Constipation, Abdominal distention, Abdominal pain, Respiratory paralysis, Weakness of mus... ORPHA:79276
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Car... OMIM:300952
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... ORPHA:71275
American Trypanosomiasis
Hepatomegaly, Abdominal pain, Splenomegaly, Achalasia, Diarrhea, Arrhythmia, Abnormal large intes... ORPHA:3386
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Diarrhea, Vomiting, Pneumonia, Respiratory failure, Hyperhidrosis, ... ORPHA:340
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Exertional dyspnea, Tachycardia ORPHA:90036
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Gastroesophageal reflux, Bronchospasm, Feeding difficulties in infancy, Cardiorespiratory ... OMIM:608800
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Insulin resistance, Hypertension, Hepatic steatosis, R... ORPHA:363400
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Bowel incontinence OMIM:618877
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Abdominal pain, Abdominal distention, Anorexia, Tachycard... ORPHA:521219
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block OMIM:615616
Congenital Fibrinogen Deficiency
Abdominal pain, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Interna... ORPHA:335
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatomegaly, Neutrophilia, Hemothorax, Hepatic fail... ORPHA:99827
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dysphagia, Exertional dyspnea, Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Acute Transverse Myelitis
Paralytic ileus, Constipation, Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Ga... ORPHA:139417
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Mpi-Cdg
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diarrhe... ORPHA:79319
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Decreased circulating T4 concentration, Constipation, Abdominal distention,... ORPHA:226313
Ethylene Glycol Poisoning
Episodic respiratory distress, Gastritis, Tachycardia, Abnormal pattern of respiration, Hypotensi... ORPHA:31826
Bacterial Toxic-Shock Syndrome
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Abdominal pain, Peritonit... ORPHA:36234
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Constipation, Episodic vomiting, Hypothyroidism, Feeding difficulties in infancy, Nasogastric tub... ORPHA:453504
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Constipation, Episodic vomiting, Hypothyroidism, Feeding difficulties in infancy, Nasogastric tub... ORPHA:352665
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Respiratory insufficiency, Hypertrophic cardiomyopathy, Failure t... OMIM:618378
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Feeding difficulties, Small for gestational ag... ORPHA:79237
X-Linked Sideroblastic Anemia
Dyspnea, Anemia, Glucose intolerance, Splenomegaly ORPHA:75563
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypoinsulinemia, Constipation, Pelvic mass, Abnormality of the peritoneum,... ORPHA:2126
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... OMIM:171300
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, Metaphyseal irregularity, Cone-shaped epiphyses of the phalange... OMIM:250220
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Hepatomegaly, Pancreatitis, Feeding difficulties, Spleno... ORPHA:79312
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Feeding difficulties, Poor suck, Hypertrophic cardiomyopathy, Respiratory failure, Bradyca... OMIM:616277
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Paragangliomas 4
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Paraganglioma of head and ne... OMIM:115310
Typhoid
Cardiac arrest, Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Diarrhea, Arrhythmia, C... ORPHA:99745
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Tachycardia, Abnormal i... ORPHA:485405
3-Methylglutaconic Aciduria, Type Viii
Apnea, Feeding difficulties, Poor suck, Neutropenia, Respiratory failure, Bradycardia OMIM:617248
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... OMIM:249700
Cirrhotic Cardiomyopathy
Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic dysfunction, Cirrhosis, Ele... ORPHA:57777
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abdominal pain, Splenomegaly, Arrhythmia, Hemolytic anemia, Dyspne... ORPHA:98375
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Diarrhea, Vomiting, Syncope, Orthostatic syncope, Hypo... ORPHA:230
Pediatric-Onset Graves Disease
Graves disease, Hepatomegaly, Increased circulating free T3, Diarrhea, Atrial fibrillation, Puber... ORPHA:525731
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Respiratory insufficiency, Feeding difficulties, Bradycardia OMIM:614654
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Femoral bowing, Fibular... OMIM:600785
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Failure to thrive, Right ventricular hypertrophy, Left ventricula... ORPHA:444013
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardiomyopathy, Apical hypertro... OMIM:613690
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Premature thelarche, Prolonged QTc interval, Hypothyroidism, Hypoglycemia, Pr... OMIM:616878
Neuroleptic Malignant Syndrome
Leukocytosis, Aspiration pneumonia, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Vom... ORPHA:94093
Marburg Hemorrhagic Fever
Odynophagia, Pancreatitis, Diarrhea, Vomiting, Reticulocytosis, Pericarditis, Jaundice, Lymphaden... ORPHA:99826
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Hydrocephalus With Associated Malformations
Lower limb undergrowth, Tibial bowing, Omphalocele, Short lower limbs OMIM:236640
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Absence Of The Pulmonary Artery
Systolic heart murmur, Nonproductive cough, Tachycardia, Orthopnea, Reduced left ventricular ejec... ORPHA:980
Familial Dysautonomia
Gastroesophageal reflux, Orthostatic hypotension, Tachycardia, Hypohidrosis, Abnormality of the p... ORPHA:1764
Timothy Syndrome
Hypothyroidism, Hypoglycemia, Pneumonia, Prolonged QT interval, Cardiomegaly, Bradycardia OMIM:601005
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Failure to thrive in infancy... ORPHA:231226
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, S... ORPHA:729
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Grant Syndrome
Tibial bowing, Down-sloping shoulders OMIM:138930
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Congestive heart failure, Hepatomegaly, Sudden ca... OMIM:115197
Mastocytosis
Telangiectasia of the skin, Asthma, Hepatomegaly, Splenomegaly, Anorexia, Respiratory insufficien... ORPHA:98292
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Constipation, Feeding difficulties in infancy, Elevated c... ORPHA:95717
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Hepatomegaly, Heart murmur, R... ORPHA:97214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Legionnaires Disease
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Respirato... ORPHA:549
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroesophageal reflux, Gastroparesis, Feeding difficulties in infancy, Absent gallbladder, Dysp... ORPHA:500150
Gitelman Syndrome
Failure to thrive, Constipation, Abdominal pain, Palpitations, Vomiting, Hypotension, Increased c... OMIM:263800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Renal Nutcracker Syndrome
Abdominal pain, Orthostatic hypotension, Tachycardia, Syncope, Weight loss, Nausea, Anemia ORPHA:71273
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent gastroenteritis, Airway obstruction, Tricuspid regurgitation, Hyp... ORPHA:505248
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Insulin resist... ORPHA:90970
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... ORPHA:231214
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Pneumonia, Increased body ... ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Wh... OMIM:211600
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Ventricular arrhythmia, Dila... OMIM:613426
Tibial Hemimelia
Absent tibia OMIM:275220
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Alstrom Syndrome
Asthma, Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth ho... OMIM:203800
Occipital Horn Syndrome
Gastroesophageal reflux, Poor suck, Cholestasis, Hepatitis, Esophagitis, Abnormal esophagus physi... ORPHA:198
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Developmental And Epileptic Encephalopathy 101
Apnea, Gastroesophageal reflux, Feeding difficulties, Third degree atrioventricular block, Bradyc... OMIM:619814
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Abnormal cardiovascular system phy... ORPHA:79086
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad metacarpals, Bowing of the legs, Broad phalanx, Short metacarpal, Flared iliac wing, Triang... OMIM:271665
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Shortened PR interval, Bradycardia, Neonatal hypoglycemia, Ascites, Cardiomyopathy, ... OMIM:261740
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Glucose intolerance, Impaired glucose tolerance, Atrioventricular block, Brady... OMIM:614407
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Diab... ORPHA:528
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Diarrhea, Vomiting, Dilated cardiomyopathy, Aspirati... OMIM:610768
Autoimmune Hypoparathyroidism
Abdominal symptom, Abnormal left ventricular function, Autoimmune hypoparathyroidism, Ventricular... ORPHA:36913
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia OMIM:141000
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Plague
Respiratory distress, Enlarged mesenteric lymph node, Bloody diarrhea, Hepatomegaly, Hematemesis,... ORPHA:707
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pancyt... OMIM:230800
Cardiospondylocarpofacial Syndrome
Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Mitral regurgitation, Gastropar... OMIM:157800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Diarrhea, Tachycardia, Vomiting, Episodic vomiting, Dilated cardiom... OMIM:618321
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin OMIM:617885
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... ORPHA:71212
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Sleep apnea, Decreased thyroid-... ORPHA:300373
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... OMIM:615745
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Splenomegal... ORPHA:280365
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Iliac crest serration, Rhizomelic arm shortening, Long fibula, Short palm,... ORPHA:93317
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... OMIM:263300
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Budd-Chiari Syndrome
Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholec... ORPHA:131
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Abnormality of the thyroid gland, Arrhythmia, Diabetes mellitus, Dysphagia, Hypogonadism, Cardiom... OMIM:609286
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Gastroesophageal reflux, Arrhythmia, Sick sinus syndrome, Prolonged PR... ORPHA:542306
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Central adrenal insufficiency, Vomiting, Increased circulating prola... ORPHA:91347
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Hemolytic anemia, Targe... OMIM:603903
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Crohn's disease, Tricuspid regurgitation, B lymphocytopenia, Decr... OMIM:619705
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula, Inguinal hernia ORPHA:935
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus ORPHA:3085
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Pancreatitis, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Palpitations, ... ORPHA:565612
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... OMIM:108950
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Persistent fetal circulation, Hypertrophic cardiomyopathy, Small for gestational ... OMIM:618775
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Sheehan Syndrome
Constipation, Central adrenal insufficiency, Decreased circulating cortisol level, Orthostatic hy... ORPHA:91355
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Diarrhea, Malformation of the hepat... OMIM:619849
Steinert Myotonic Dystrophy
Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Constipation, Hypergonadotropic hypogonadis... ORPHA:273
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Flared metaphysis, Irregular epiphyses, Short femoral neck, Carpal bone... OMIM:610442
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Gitelman Syndrome
Respiratory distress, Graves disease, Constipation, Diarrhea, Type I diabetes mellitus, Primary h... ORPHA:358
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Abdominal distention, Severe fa... OMIM:246200
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Constipation, Impair... ORPHA:90673
Sarcoidosis
Hepatomegaly, Hepatic failure, Abnormal cardiac ventricular function, Weight loss, Lymphadenopath... ORPHA:797
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
D-Glyceric Aciduria
Failure to thrive, Gastroesophageal reflux, Hypoglycemia, Neonatal respiratory distress, Bradycardia OMIM:220120
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Hepatomegaly, R... OMIM:232300
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Ebstein Anomaly
Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right bundle branch block, At... OMIM:224700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Effort-induced polymorphic ventricular tachycardia OMIM:600996
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Constipation, Hyperthyroidism, Respiratory paralysis,... ORPHA:79102
Ogden Syndrome
Apnea, Diarrhea, Vomiting, Enlarged kidney, Jaundice, Cardiomegaly, Torsade de pointes, Tube feed... OMIM:300855
Degcags Syndrome
Hepatomegaly, Cholestasis, Pneumonia, Pancytopenia, Rhinitis, Feeding difficulties, Tracheomalaci... OMIM:619488
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Episodic abdominal pain, Absence of pubertal development, ... ORPHA:785
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant ... OMIM:151660
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Hepatomegaly, Cerebral hemorrhage, Respiratory insufficiency... OMIM:617397
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Ventricular escape... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Ventricular escape... ORPHA:98853
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Neuroendocrine neoplasm, Mitral regurgitation, Myeloid leukemia, Suprave... ORPHA:404443
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Obstructive sleep apnea OMIM:617877
Lujo Hemorrhagic Fever
Respiratory distress, Abdominal cramps, Odynophagia, Diarrhea, Vomiting, Myocarditis, Rhinitis, H... ORPHA:319213
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Ventricular escape... ORPHA:98863
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentr... ORPHA:90674
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Constipation, Thyroid hypoplasia, Prolonged neonatal... ORPHA:226307
Truncus Arteriosus
Abnormal heart valve physiology, Adrenocortical abnormality, Right ventricular hypertrophy, Pulmo... ORPHA:3384
Glossopharyngeal Neuralgia
Odynophagia, Feeding difficulties, Oral-pharyngeal dysphagia, Syncope, Malnutrition, Jaw claudica... ORPHA:221098
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Tyrosinemia, Type I
Melena, Failure to thrive, Paralytic ileus, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosi... OMIM:276700
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Tachycardia, Hypothyroidism, Delayed pu... ORPHA:1772
Hypothyroidism, Congenital, Nongoitrous, 2
Constipation, Abdominal distention, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, F... OMIM:218700
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin, Acute pancreatit... OMIM:608594
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Poor suck, Mitral regurgitation, Rig... ORPHA:99125
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... ORPHA:769
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Decreased body weight, Hepatomegaly, Hyperinsuline... ORPHA:508
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Elevated hemoglobin A1c,... OMIM:269700
Prader-Willi Syndrome
Abdominal obesity, Sleep apnea, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemi... OMIM:176270
Mandibuloacral Dysplasia
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Abnormal T-wave, Decreased response... ORPHA:3464
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Tricuspid regurgitation, Premature ventricular contraction, Feeding difficulties, Mitral regurgit... OMIM:620066
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608612
Liver Disease, Severe Congenital
Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic hea... OMIM:619991
Cardiac-Urogenital Syndrome
Tracheomalacia, Accessory spleen, Tachycardia, Hepatopulmonary fusion, Enlarged kidney OMIM:618280
Atypical Werner Syndrome
Telangiectasia of the skin, Failure to thrive, Decreased body weight, Aortic valve stenosis, Type... ORPHA:79474
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Neutrophilia, Leukocytosis, Abdominal pain, Pancreatic ... ORPHA:99829
Marshall-Smith Syndrome
Apnea, Airway obstruction, Decreased body weight, Failure to thrive, Premature ventricular contra... OMIM:602535
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, ... OMIM:248370
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... ORPHA:99413
Turner Syndrome
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... ORPHA:99228
Monosomy X
Glucose intolerance, Cholestatic liver disease, Type II diabetes mellitus, Hyperinsulinemia, Cirr... ORPHA:99226
Alström Syndrome
Respiratory distress, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, He... ORPHA:64
Legius Syndrome
Pulmonic stenosis, Paroxysmal atrial tachycardia, Acute monocytic leukemia ORPHA:137605
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia OMIM:309801
Pmm2-Cdg
Angina pectoris, Respiratory distress, Failure to thrive, Hyperinsulinemia, Elevated circulating ... ORPHA:79318

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.

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

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