Gene Summary

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

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
increased circulating aspartate transaminase level P2ry14em1(IMPC)H HOM Late adult 2.11×10-12
increased total body fat amount P2ry14em1(IMPC)H HOM Early adult 8.09×10-08
increased circulating alanine transaminase level P2ry14em1(IMPC)H HOM Late adult 2.81×10-14
long tibia P2ry14em1(IMPC)H HOM Early adult 6.75×10-07
decreased fasting circulating glucose level P2ry14em1(IMPC)H HOM   Late adult 5.79×10-06

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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.

Echo

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
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Palpitations, Hyperinsulinemic hypoglycemia, Hyperin... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Respiratory distress, Paroxysmal suprav... ORPHA:45452
Coproporphyria, Hereditary
Abdominal pain, Constipation, Hypertension, Respiratory paralysis, Hepatomegaly, Jaundice, Diarrh... OMIM:121300
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse... ORPHA:276556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Glucose intolerance, Constipation, Gastroesophageal reflux, Impaired glucose toleranc... OMIM:610131
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Obesit... ORPHA:563
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Immunodeficiency 77
Gastroparesis, Recurrent tonsillitis, Chronic pulmonary obstruction, Bronchiectasis OMIM:619223
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Variegate Porphyria
Vomiting, Constipation, Tachycardia, Abdominal pain OMIM:176200
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Feeding difficulties, Dysphagia, Respiratory insufficiency, Supraventricular tachycardia, Cardiom... OMIM:255100
Al Amyloidosis
Arrhythmia, Dyspnea, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycar... ORPHA:85443
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Small f... ORPHA:99886
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Dysphagia, Constipation, Gastroesophageal reflux... ORPHA:70
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, Dyspnea, T-wave inversion, Ventricular tachycardia, ... OMIM:608758
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Cardiac conduction abnormality, Atr... ORPHA:1344
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Prader-Willi Syndrome
Central hypothyroidism, Nasogastric tube feeding in infancy, Decreased circulating gonadotropin c... ORPHA:739
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardiac death, Myocardial i... OMIM:610947
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Goiter, Glucose into... ORPHA:254892
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Ventricular t... OMIM:600649
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hypertension, Hepatomegaly, Pancreatitis... ORPHA:79084
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Infant Acute Respiratory Distress Syndrome
Hypotension, Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachycardia, Cardiac arr... ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Dyspnea, Ventricular tachycardia, Left ventricular hypertrophy, Cardiomyopathy OMIM:613873
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Hypertension, Respiratory insufficiency, Small for gestational age, Failure to thrive... OMIM:614052
Snakebite Envenomation
Pseudobulbar paralysis, Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Hypop... ORPHA:449285
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Dyspnea, Respiratory distress, Abdominal pain, Tachycardia, Vomiting, M... ORPHA:464453
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Tachycardia, Decreased thyroid-stimulating hormone level, Hyperth... OMIM:603373
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98793
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177904
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177901
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Cardiomegaly, Third heart sound, Crackles, Left-to-... ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Malnutrition, Abdominal pain, Constipation, Weight loss, Cachexia, Vomiting, Gastr... OMIM:603041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly ORPHA:90037
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Tibial bowing ORPHA:2768
Mahvash Disease
Palpitations, Abdominal pain, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Increase... OMIM:619290
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Cardiorespiratory arrest, Hypotension, Hepatic steatosis, Ventricular extr... OMIM:212138
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Congestive heart failure, Left ventricular ... OMIM:619048
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Hypotension, Nausea, Hypertension, Anore... ORPHA:330021
Prader-Willi-Like Syndrome
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:398073
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bones, Short palm... ORPHA:2502
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hypoglycemia, Hepatomegaly, Tachycardia, Hyperventilation OMIM:229700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Dilated cardiomyopathy, Respiratory distress, Feeding difficulties, Overweight, Hypok... ORPHA:26793
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Postural hypotension with compensatory tachycardia, Hypote... ORPHA:369873
Visceral Myopathy 2
Esophagitis, Dysphagia, Gastroesophageal reflux, Ineffective esophageal peristalsis, Intestinal p... OMIM:619350
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Sudden cardiac death, Hepatit... OMIM:614921
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Dyspnea, Respiratory distress, Neonatal hypoglycemia, Hepatic steatosis, Ep... ORPHA:348
Sepsis In Premature Infants
Abnormal mucociliary clearance, Decreased pulmonary function, Neutropenia, Jaundice, Decreased li... ORPHA:90051
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Feeding difficulties, Insulin resistance, Dysphagia, Constipation, Hepatic stea... OMIM:613327
Carney Triad
Arrhythmia, Adrenocortical adenoma, Gastrointestinal hemorrhage, Abdominal pain, Pheochromocytoma... ORPHA:139411
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Porphyria, Acute Intermittent
Paralytic ileus, Abdominal pain, Constipation, Nausea, Hepatocellular carcinoma, Hypertension, Re... OMIM:176000
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Hepatomegaly, Splenomegaly, Cardiac arrest, Abnormal patt... ORPHA:77260
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Goiter, Weight loss, Tachycardia, Hyperthyroidism OMIM:613239
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Goiter, Weight loss, Tachycardia, Hyperthyroidism OMIM:188580
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Immunodeficiency 48
Pneumonia, Hepatomegaly, Diarrhea, Failure to thrive, Splenomegaly OMIM:269840
Myotonic Dystrophy 2
Palpitations, Hypogonadism, Tachycardia, Insulin insensitivity, Elevated circulating follicle sti... OMIM:602668
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Nausea, Capillary leak, Dia... ORPHA:542323
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia, Diarrhea, Failure to thrive, Vomiting, Feeding difficulties in in... OMIM:606528
Autoimmune Hemolytic Anemia, Warm Type
Exertional dyspnea, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Congestive... ORPHA:90033
Systemic Sclerosis
Hypohidrosis, Dyspnea, Intestinal bleeding, Pericarditis, Right ventricular failure, Nail bed tel... ORPHA:90291
Tetanus
Respiratory distress, Abdominal pain, Dysphagia, Hypertension, Bowel incontinence, Tachycardia, T... ORPHA:3299
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Dyspnea, Bundle branch block, Abdominal pain, Congestive heart failure, Heart block, ... ORPHA:871
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Leukocytosis, Pleural effusion,... ORPHA:3392
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Malnutrition, Abdominal distention, Abdominal pain OMIM:277320
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Ta... OMIM:171420
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Oculogastrointestinal Muscular Dystrophy
Gastroparesis, Cachexia, Abdominal distention, Intestinal pseudo-obstruction ORPHA:1876
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Constipation, Respiratory insufficiency due to muscle weakness, Diarr... OMIM:601419
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Megaloblastic anemia, Anorexia, Thrombocytopenia, Congestive heart... ORPHA:49827
Relapsing Fever
Abdominal pain, Leukocytosis, Hypotension, Cough, Epistaxis, Thrombocytopenia, Jaundice, Neutroph... ORPHA:91547
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Hypertension, Hepatic fibrosis, Abnormal circulating hormone... ORPHA:280356
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Left ventricular hyper... OMIM:612158
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cough, Atrial flutter, Atrial fibrillation, Hypoglycemia, Junctio... ORPHA:137675
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Hereditary Coproporphyria
Small intestinal dysmotility, Abdominal pain, Hepatocellular carcinoma, Nausea, Respiratory insuf... ORPHA:79273
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Arrhythmia, Sudden episodic apnea, Hypotension, Hypoketotic hypoglycemia, R... ORPHA:159
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... OMIM:608971
Bronchial Neuroendocrine Tumor
Wheezing, Elevated circulating growth hormone concentration, Increased circulating cortisol level... ORPHA:97287
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Hydroxykynureninuria
Hypotension, Tachycardia, Stomatitis, Breathing dysregulation ORPHA:79155
Neuroendocrine Tumor Of The Colon
Lack of bowel sounds, Palpitations, Right ventricular failure, Bronchospasm, Bowel urgency, Abdom... ORPHA:100080
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Necrotizing Enterocolitis
Peritonitis, Apnea, Leukocytosis, Hypotension, Neutropenia, Thrombocytopenia, Diarrhea, Ascites, ... ORPHA:391673
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss, Chronic myelomonocytic leukemia, Diarrhea, Abnormal mast cell morphology, Neutrophil... ORPHA:98849
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, Exertional dyspnea, T-wave inversion, Ventricular tachycardia, Ventricu... ORPHA:263297
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Gastroparesis, Intestinal pseudo-obstruction OMIM:607459
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Gastroparesis, Intestinal pseudo-obstruction ORPHA:70595
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Vomiting, Prolonged QTc interval, Syncope, Cardiogenic shock, Obesity, De... ORPHA:66529
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Stiff-Person Syndrome
Hypertension, Tachycardia, Hyperhidrosis, Anemia, Diabetes mellitus OMIM:184850
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Visceral Myopathy 1
Malnutrition, Abdominal pain, Dysphagia, Constipation, Intestinal pseudo-obstruction, Diarrhea, P... OMIM:155310
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi... OMIM:616201
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Cough, Cerebral hemorrhage, Vomiting, Bloody diarrhea, Respirat... ORPHA:90068
Hemochromatosis, Type 4
Arrhythmia, Glucose intolerance, Impaired glucose tolerance, Anemia, Cardiomyopathy OMIM:606069
Cholera
Abdominal cramps, Abdominal pain, Achlorhydria, Hypotension, Hypoglycemia, Aspiration pneumonia, ... ORPHA:173
Neuroendocrine Tumor Of The Rectum
Lack of bowel sounds, Carcinoid tumor, Hypoactive bowel sounds, Tricuspid regurgitation, Melena, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Lack of bowel sounds, Carcinoid tumor, Hypoactive bowel sounds, Tricuspid regurgitation, Melena, ... ORPHA:100082
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Dysphagia, Episodic tachypnea, Aspiration pneumonia, Tachycardia, Hyperhidrosis, Tube feeding ORPHA:79264
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Gastroesophageal re... ORPHA:2414
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Hyperthyroidism, Nonautoimmune
Goiter, Small for gestational age, Tachycardia, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Tenorio Syndrome
Apnea, Gastroesophageal reflux, Stomatitis, Pneumonia, Hypoglycemia, Hypoinsulinemia, Raynaud phe... OMIM:616260
Hemochromatosis, Type 1
Cirrhosis, Arrhythmia, Glucose intolerance, Abdominal pain, Pleural effusion, Hepatocellular carc... OMIM:235200
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Orthostatic hypotension, Episodic hyperhidrosis, Constipation, G... OMIM:223900
Insulinoma
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm... ORPHA:97279
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Bradycardia, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:616276
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Bronchospasm, Gastroesophageal reflux, Abnormal pattern of respi... OMIM:608800
Congenital Bile Acid Synthesis Defect Type 3
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepat... ORPHA:79302
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Paroxysmal ventricular... ORPHA:34217
Propionic Acidemia
Arrhythmia, Constipation, Hypoglycemia, Hepatomegaly, Cardiomyopathy ORPHA:35
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Feeding difficulties, Respiratory insufficiency, Tachycardia, Hyperhidrosis, Bradycardia OMIM:614653
Double Outlet Right Ventricle
Feeding difficulties, Aplasia/Hypoplasia of the thymus, Pulmonic stenosis, Heart murmur, Tachycar... ORPHA:3426
Erythrocytosis, Familial, 1
Increased hematocrit, Exertional dyspnea, Increased hemoglobin, Hypertension, Increased red blood... OMIM:133100
Porphyria Variegata
Abdominal pain, Constipation, Nausea, Hepatocellular carcinoma, Hypertension, Respiratory paralys... ORPHA:79473
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Wild Type Attr Amyloidosis
Abnormal EKG, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion,... ORPHA:330001
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Serotonin Syndrome
Hypotension, Nausea, Hypertension, Diarrhea, Tachycardia, Hepatic failure, Hyperhidrosis, Tachypnea ORPHA:43116
Babesiosis
Hemolytic anemia, Cough, Respiratory insufficiency, Anorexia, Thrombocytopenia, Jaundice, Hepatom... ORPHA:108
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Respiratory distress, Protuberant abdomen, Decreased circulating T4 level, Constipation, ... ORPHA:226313
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Hodgkin Lymphoma
Dyspnea, Cough, Weight loss, Anorexia, Hepatomegaly, Hyperhidrosis, Splenomegaly, Lymphadenopathy ORPHA:98293
American Trypanosomiasis
Arrhythmia, Dyspnea, Abdominal pain, Cough, Cardiomyopathy, Achalasia, Lymphadenopathy, Hepatomeg... ORPHA:3386
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Hemophagocytosis, Recurrent gastroenteritis, Abdo... ORPHA:39812
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Eosinophilia... ORPHA:75565
Scorpion Envenomation
Cardiac conduction abnormality, Diarrhea, Myocarditis, Vomiting, Cardiogenic shock, Bundle branch... ORPHA:466677
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Young-Onset Parkinson Disease
Gastroparesis, Constipation, Nausea, Diarrhea ORPHA:2828
Acute Intermittent Porphyria
Pseudobulbar paralysis, Abdominal pain, Constipation, Hepatocellular carcinoma, Respiratory insuf... ORPHA:79276
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Dysphagia, Gastroparesis, Hypergonadotropic hypogonadism, Testicular atrophy OMIM:157640
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
3-Methylglutaconic Aciduria, Type Viii
Apnea, Feeding difficulties, Neutropenia, Bradycardia, Respiratory failure, Poor suck OMIM:617248
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Exertional dyspnea ORPHA:90036
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Mirizzi Syndrome
Gallbladder perforation, Abdominal pain, Abdominal colic, Nausea, Cholesterol gallstones, Choleli... ORPHA:521219
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia, Feeding difficulties, Respiratory insufficiency OMIM:614654
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:179494
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bowel incontinence, Gastroparesis OMIM:618877
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
X-Linked Sideroblastic Anemia
Dyspnea, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Feeding difficulties, Abdominal pain, Neutropenia, Anorexia, Thrombocytopen... ORPHA:79312
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dysphagia, Tachycardia, Hypertrophic cardiomyopathy, Exertional dyspnea ORPHA:368
Ethylene Glycol Poisoning
Episodic respiratory distress, Hypotension, Nausea, Atrial fibrillation, Hypertension, Congestive... ORPHA:31826
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Hypogonadism, Cardiomyop... OMIM:613313
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Constipation, Nasogastric tube feeding in infancy, Intestinal pseudo-obstruction,... ORPHA:453504
Neuroendocrine Tumor Of Stomach
Lack of bowel sounds, Carcinoid tumor, Tricuspid regurgitation, Melena, Anorexia, Weight loss, Bl... ORPHA:100075
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Constipation, Nasogastric tube feeding in infancy, Intestinal pseudo-obstruction,... ORPHA:352665
Bacterial Toxic-Shock Syndrome
Peritonitis, Respiratory distress, Abdominal pain, Hypotension, Nausea, Pneumonia, Increased circ... ORPHA:36234
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hypertension, Hepatomegaly, R... ORPHA:363400
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Typhoid
Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Cough, Constipation, Epistaxis, Hepatome... ORPHA:99745
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Hemochromatosis, Type 2A
Cirrhosis, Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopat... OMIM:602390
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia, Tachycardia OMIM:601887
Paragangliomas 4
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:115310
Congenital Fibrinogen Deficiency
Splenic rupture, Abdominal pain, Internal hemorrhage, Tachycardia, Right ventricular hypertrophy,... ORPHA:335
Pediatric-Onset Graves Disease
Increased circulating T4 level, Jaundice, Diarrhea, Thyrotoxicosis with diffuse goiter, Atrial fi... ORPHA:525731
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Flared iliac w... OMIM:250220
Autoimmune Hemolytic Anemia
Arrhythmia, Hemolytic anemia, Dyspnea, Abdominal pain, Congestive heart failure, Splenomegaly, Ab... ORPHA:98375
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Constipation, Elevated circulating thyroid-stimulating hormone co... ORPHA:95717
Systemic Capillary Leak Syndrome
Arrhythmia, Cardiorespiratory arrest, Pericarditis, Abdominal pain, Leukocytosis, Pleural effusio... ORPHA:188
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Failure to thrive, Dilated car... OMIM:300952
Pheochromocytoma
Positive regitine blocking test, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Ta... OMIM:171300
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:79301
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Galactokinase Deficiency
Hyperinsulinemia, Feeding difficulties, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Solitary Fibrous Tumor/Hemangiopericytoma
Constipation, Abnormality of the peritoneum, Pelvic mass, Hypoglycemia, Neoplasm of the liver, Hy... ORPHA:2126
Timothy Syndrome
Hypothyroidism, Pneumonia, Hypoglycemia, Cardiomegaly, Prolonged QT interval, Bradycardia OMIM:601005
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Hypertension, Cholestasis OMIM:105200
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Lymphopenia, Chron... OMIM:617514
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Constipation, Elevat... ORPHA:95716
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Diarrhea, Leukopenia, Anemia, Vomiting, Pulmonary arterial hypertension, ... OMIM:278000
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Wheezing, Arrhythmia, Cough, Cholelithiasis, Increased circulating renin l... ORPHA:171876
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Hypoglycemia, Orthostatic... ORPHA:230
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Neuroleptic Malignant Syndrome
Nasogastric tube feeding, Thrombocytosis, Arrhythmia, Leukocytosis, Dysphagia, Hypotension, Nause... ORPHA:94093
Dominant Beta-Thalassemia
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231226
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Glutaric Aciduria Iii
Goiter, Hypertension, Diarrhea, Failure to thrive, Vomiting, Hyperthyroidism OMIM:231690
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Omphalocele, Short lower limbs OMIM:236640
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Micromelia, Short finger, Metaphyseal cupping, Shor... OMIM:250215
Mastocytosis
Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Cough, Respiratory insuff... ORPHA:98292
Polycythemia Vera
Gastrointestinal hemorrhage, Abdominal pain, Angina pectoris, Intermittent claudication, Budd-Chi... ORPHA:729
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Scrub Typhus
Restrictive ventilatory defect, Dyspnea, Abdominal pain, Hypotension, Cough, Hyperhidrosis, Splen... ORPHA:83317
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Premature pubarche, Hypothyroidism, Hypoglycemia, Oral-pharyngeal dysphagia, ... OMIM:616878
Familial Dysautonomia
Hypohidrosis, Orthostatic hypotension, Gastroesophageal reflux, Abnormality of the peritoneum, Hy... ORPHA:1764
Legionnaires Disease
Restrictive ventilatory defect, Arrhythmia, Pericarditis, Abdominal pain, Hypotension, Myocarditi... ORPHA:549
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
16P12.1P12.3 Triplication Syndrome
Chronic constipation, Tachycardia, Failure to thrive, Abnormality of the intrahepatic bile duct, ... ORPHA:485405
Beta-Thalassemia Major
Persistence of hemoglobin F, Decreased mean corpuscular hemoglobin concentration, Reduced hemoglo... ORPHA:231214
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Weight loss, Anorexia, Histiocytosis, Diarrhea, Anemia, ... OMIM:209950
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Hypotension, Congestive heart failure, Shortened PR interval, Cardiomegaly... OMIM:261740
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Impaired glucose tolerance, Atrioventricular block, Failure to thrive, Brady... OMIM:614407
Aapoaiv Amyloidosis
Chronic pulmonary obstruction, Cardiac conduction abnormality, Abnormal cardiac ventricular funct... ORPHA:439232
Lcat Deficiency
Hemolytic anemia, Hypertension, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:650
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Decreased liver function, Bradycardia OMIM:616299
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Gitelman Syndrome
Palpitations, Abdominal pain, Hypotension, Constipation, Increased circulating renin level, Ventr... OMIM:263800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent gastroenteritis, Enlarged kidney, Tricuspid regurgitation, Thromb... ORPHA:505248
Tibial Hemimelia
Absent tibia OMIM:275220
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Occipital Horn Syndrome
Esophagitis, Abnormality of esophagus physiology, Dysphagia, Gastroesophageal reflux, Cholestasis... ORPHA:198
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Dysphagia, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Bradyca... OMIM:609286
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Insulin resistance, Hypotension, Cough... ORPHA:3452
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Insulinoma, Melena, Episodic vomiting, Lymphad... ORPHA:100076
Renal Nutcracker Syndrome
Orthostatic hypotension, Abdominal pain, Nausea, Weight loss, Tachycardia, Anemia, Syncope ORPHA:71273
Classic Hodgkin Lymphoma
Cough, Respiratory insufficiency, Lymphadenopathy, Anorexia, Hepatomegaly, Weight loss, Hyperhidr... ORPHA:391
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Hypertension, Splenomegaly, Co... ORPHA:90970
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Absent gallbladder, Dysphagia, Emphysema, Chronic diarrhea, Gastrostomy tube fee... ORPHA:500150
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Atrial Standstill 2
Palpitations, Dyspnea, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave... OMIM:615745
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Diarr... OMIM:602579
Immunodeficiency 54
Respiratory insufficiency, Hepatomegaly, Reduced natural killer cell count, Adrenal insufficiency... OMIM:609981
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Arrhythmia, Abdominal pain, Hypothyroidism, Hepatocellular carcinoma, Elevated jugular... ORPHA:465508
Gaucher Disease, Type Ii
Apnea, Feeding difficulties, Protuberant abdomen, Dysphagia, Thrombocytopenia, Hepatomegaly, Anem... OMIM:230900
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Diarrhea, Anemia, Splenomegaly, Failure to thrive, He... OMIM:618963
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Ileal Neuroendocrine Tumor
Weight loss, Episodic vomiting, Lymphadenopathy, Iron deficiency anemia, Cardiogenic shock, Funct... ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss, Episodic vomiting, Lymphadenopathy, Iron deficiency anemia, Cardiogenic shock, Funct... ORPHA:100077
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Malnutrition, Allergic rhinitis, Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Ja... OMIM:612714
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Beta-Thalassemia
Microcytic anemia, Respiratory insufficiency, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hep... ORPHA:848
Gaucher Disease, Type I
Dyspnea, Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Aor... OMIM:230800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Tricuspid regurgitation, Pulmonary arterial... ORPHA:97214
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Ventricular extrasystoles, Acute hepatic failure, Ventricular tachycardia, Supravent... ORPHA:423
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Thrombocytopenia, Hepatomegaly, Decreased liver function, Cerebral hem... OMIM:617397
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Broad metacarpals, Flared iliac w... OMIM:271665
Neuroendocrine Neoplasm Of Appendix
Abdominal colic, Hypoactive bowel sounds, Primary hypercortisolism, Anorexia, Mechanical ileus, I... ORPHA:100079
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Pneumonia, Weight loss, Type II diabetes mellitus, Leukopenia, Ins... ORPHA:2298
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Intracranial hemorrhage, Weight loss, Thrombocytopenia... ORPHA:3226
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Wolman Disease
Bone-marrow foam cells, Malnutrition, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Ascites, ... ORPHA:75233
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Abnormal cardiovascular syste... ORPHA:79086
Plague
Inflammation of the large intestine, Arrhythmia, Respiratory distress, Hematemesis, Abdominal pai... ORPHA:707
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Precocious pube... ORPHA:528
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes m... ORPHA:79083
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Sheehan Syndrome
Pituitary hypothyroidism, Abnormal size of pituitary gland, Obesity, Adrenocorticotropin deficien... ORPHA:91355
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Farber Lipogranulomatosis
Lipogranulomatosis, Respiratory insufficiency, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:228000
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pleural effusion, Emphysema, Hepatomegal... OMIM:612387
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, ... ORPHA:398124
Congenital Left Ventricular Aneurysm
Apnea, Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment ORPHA:1055
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Sickle Cell Anemia
Hemolytic anemia, Abdominal pain, Leukocytosis, Cholelithiasis, Hypertension, Hepatomegaly, Jaund... OMIM:603903
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:131
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Decreased thyroid-... ORPHA:300373
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short palm, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac... ORPHA:93317
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Fasting hyperinsulin... ORPHA:71212
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Bradycardia OMIM:614498
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Splenomegaly... OMIM:616860
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Gastroesophageal reflux, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR... ORPHA:542306
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Thrombocytopenia, Normochromic anemia, Small for gestational age, Feeding difficu... OMIM:618775
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Dyspnea, Low-output congestive heart failure, Vacuolated lymphocytes, A... ORPHA:565612
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Neonatal cholestatic liver disease, Bilia... ORPHA:1414
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the metaphysis, Inguinal hernia, Long fibula ORPHA:935
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Decreased li... OMIM:606003
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Hepatomegaly, Anemia, Splenomegaly, Hepato... OMIM:612840
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:3085
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Hypoplasia of the thymus, Thrombocytopenia, Hepatomegaly, Eo... OMIM:603554
Steinert Myotonic Dystrophy
Male hypogonadism, Cardiac conduction abnormality, Respiratory failure requiring assisted ventila... ORPHA:273
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Narrow iliac wing, Flat ac... OMIM:610442
Illum Syndrome
Apnea, Bradycardia OMIM:208155
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Abdominal pain, Pleural effusion, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Hepatic fibrosis... OMIM:246200
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Hepatic fa... OMIM:616278
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Glycogen Storage Disease Ii
Dyspnea, Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Respir... OMIM:232300
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Left ve... OMIM:163800
Sarcoidosis
Bronchiectasis, Cough, Weight loss, Decreased liver function, Leukopenia, Anemia, Abnormality of ... ORPHA:797
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:314050
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Gitelman Syndrome
Primary hyperaldosteronism, Abnormal T-wave, Delayed puberty, Diarrhea, Type II diabetes mellitus... ORPHA:358
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Lymphadenopathy, Splenomegaly ORPHA:79292
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Nausea, Hypoglycemia,... ORPHA:264580
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Cough, Vasculitis in the skin, Generalized lymphadenopathy, Pulmonary em... ORPHA:3260
Glossopharyngeal Neuralgia
Malnutrition, Feeding difficulties, Weight loss, Oral-pharyngeal dysphagia, Odynophagia, Jaw clau... ORPHA:221098
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Hepatitis, Diarrhea, He... OMIM:613812
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Episodic abdomin... ORPHA:785
Familial Thrombocytosis
Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia, Hyperhidrosis,... ORPHA:71493
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Glutamine Deficiency, Congenital
Apnea, Bradycardia, Neonatal respiratory distress OMIM:610015
Ogden Syndrome
Arrhythmia, Ventricular extrasystoles, Ventricular tachycardia, Supraventricular tachycardia, Tor... OMIM:300855
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Gastrointestinal hemorrhage, Enlarged kidney, Hepatocellular carcinom... OMIM:276700
Hyperparathyroidism, Neonatal Severe
Dyspnea, Constipation, Hepatomegaly, Primary hyperparathyroidism, Anemia, Splenomegaly, Elevated ... OMIM:239200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Obstructive sleep apnea, Paroxysmal supraventricular tachycardia OMIM:617877
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Jaundice, Palmar telangiectasia, Cirrhosis, Acute hepatic failure, Abno... ORPHA:171
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Constipation, Elevated circulating thyroid-stimulating ... OMIM:218700
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Caroli Disease
Weight loss, Anorexia, Jaundice, Vomiting, Cirrhosis, Intrahepatic cholestasis, Nausea, Cholangit... ORPHA:53035
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress, Failure to thrive OMIM:619272
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Anemia, Lymphadenopathy, Portal hypertension, Thrombocytosis, Feeding d... OMIM:615688
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hep... OMIM:151660
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Diarrhea, Hepatic failure, Splenom... OMIM:235555
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hypertension, Hepatomegaly... OMIM:263200
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Supraventricular tachycardia with an accessory connection mediated pathway, Neu... ORPHA:404443
Common Variable Immunodeficiency
Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmune thrombocytopenia, Em... ORPHA:1572
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Truncus Arteriosus
Adrenocortical abnormality, Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of ... ORPHA:3384
Kyphomelic Dysplasia
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing, Flat acetabula... OMIM:211350
45,X/46,Xy Mixed Gonadal Dysgenesis
Increased circulating gonadotropin level, Hypothyroidism, Streak ovary, Delayed puberty, Decrease... ORPHA:1772
Familial Mediterranean Fever
Peritonitis, Arrhythmia, Pericarditis, Abdominal pain, Gastrointestinal infarctions, Constipation... ORPHA:342
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Nasogastric tube feeding in infancy, Vomiting, Feeding difficulties in inf... ORPHA:565624
Lysinuric Protein Intolerance
Hemophagocytosis, Pulmonary hemorrhage, Malnutrition, Nausea, Respiratory insufficiency, Thromboc... OMIM:222700
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Respiratory distress, Exertional dyspnea, Respiratory failure requirin... ORPHA:99125
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Bradycardia, Third degree atrioventricular block ORPHA:40366
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Enlarged kidney, Periportal fibrosis, Thrombocytopenia, Cholangitis, Asc... ORPHA:731
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemia, Impaired ... ORPHA:769
Familial Mediterranean Fever
Peritonitis, Pericarditis, Abdominal pain, Leukocytosis, Pleural effusion, Orchitis, Hepatomegaly... OMIM:249100
Prader-Willi Syndrome
Sleep apnea, Hypoventilation, Hyperinsulinemia, Failure to thrive in infancy, Obesity, Adrenal in... OMIM:176270
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Encephalitis Lethargica
Bowel incontinence, Bradycardia, Hyperventilation ORPHA:83600
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... OMIM:608594
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Abdominal pain, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia, Hepatic fibros... ORPHA:567983
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Hepatic steatosis, Acute pancreatitis, Hepat... OMIM:269700
Mandibuloacral Dysplasia
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Abnormal T-w... ORPHA:3464
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Ple... OMIM:181000
Bohring-Opitz Syndrome
Apnea, Cholelithiasis, Bradycardia, Cardiomegaly, Vomiting, Severe failure to thrive, Feeding dif... ORPHA:97297
Reynolds Syndrome
Gastrointestinal hemorrhage, Lip telangiectasia, Biliary cirrhosis, Steatorrhea, Hepatomegaly, Ja... OMIM:613471
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Malnutrition, Dyspnea, Respiratory distress, Dilated cardiomyopath... ORPHA:79404
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Abnormality of circulating leptin level, Hepatic stea... ORPHA:79474
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Cirrhosis, Increased circulat... ORPHA:881
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Cirrhosis, Increased circulat... ORPHA:99226
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Cirrhosis, Increased circulat... ORPHA:99228
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Cirrhosis, Increased circulat... ORPHA:99413
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Emphysema, Bradycardia OMIM:614437
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Respiratory dis... 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
P2ry14em2(IMPC)H Exon Deletion Mice
P2ry14em1(IMPC)H Exon Deletion Mice

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