Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Werner syndrome RecQ like helicase
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Wrn 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.

The table below shows human diseases associated to Wrn by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Wrn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... OMIM:610947
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction OMIM:108725
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Lipodystrophy, Hype... OMIM:612526
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... ORPHA:276580
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... ORPHA:181393
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance, Hypertension ORPHA:79084
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Hypogonadism, Diabetes mellitus OMIM:615981
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... ORPHA:276556
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae, Recurrent lower respiratory tract infections, Recurrent Stap... OMIM:613860
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increased intraabdom... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystrophy, Hypertri... OMIM:615238
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Intellectual Developmental Disorder, X-Linked 106
Bicuspid aortic valve, Decreased testicular size, Open mouth, Thick vermilion border, Cryptorchid... OMIM:300997
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... ORPHA:435660
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Diabete... OMIM:610717
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture, Hyperglycemia OMIM:618856
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect OMIM:618496
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Li... ORPHA:528
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Transposition of the great arteries, Truncus art... OMIM:612474
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Arrh... OMIM:616516
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Cardiac Diverticulum
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Aortic valve ste... ORPHA:1686
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Pierre Robin Syndrome
Glossoptosis, Cor pulmonale, Pierre-Robin sequence, Cleft palate OMIM:261800
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
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
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Wide mouth, Diastema, Downturned corne... OMIM:615009
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Lipoatrophy, Lipodystrophy, Insulin r... ORPHA:90970
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Retinitis Pigmentosa 89
Bicuspid aortic valve, Esophageal varix, Hepatosplenomegaly OMIM:618955
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Lessel-Kreienkamp Syndrome
Dental malocclusion, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductu... OMIM:619149
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystroph... ORPHA:435651
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Partial Atrioventricular Septal Defect
Angina pectoris, Double outlet right ventricle, Partial atrioventricular canal defect, Anomalous ... ORPHA:1330
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... OMIM:314400
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hypoglycemia, Ventricular hyp... OMIM:232400
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Maternal diabetes, Hypertriglyceridemia, Insulin-resistant diabe... ORPHA:79083
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve OMIM:616201
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... ORPHA:79086
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Bicuspid aortic valve, Cleft palate, Neutropenia, Bone marrow hy... OMIM:614900
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the esoph... OMIM:609192
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect OMIM:613355
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Cellulitis, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, Insulin resistan... ORPHA:2348
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Lipodystrophy, Hypertriglyceridemia, Hypogonadism, Insulin resistance, Telan... OMIM:615381
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Left ventricular hypertrophy, Abnormal circulating renin, Glucocortocoid-ins... ORPHA:251274
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Cardiomyopathy, Hyperglycemia OMIM:520000
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital a... ORPHA:96181
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Tooth malposition, Everted lower lip vermilion, Short philtrum, Widely spa... OMIM:619641
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Robinow Syndrome, Autosomal Recessive 2
Gingival overgrowth, Bicuspid aortic valve, Triangular mouth, Abnormality of the dentition, Long ... OMIM:618529
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Long philtrum, Oral cl... OMIM:243310
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve c... ORPHA:363618
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hypoglycemia, Delayed puberty, Hypertrophic cardiomyopathy ORPHA:369
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... OMIM:219080
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Supraventricular a... ORPHA:280365
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... ORPHA:228410
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Ab... ORPHA:284169
Cantu Syndrome
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... OMIM:239850
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Wide mouth, Bicuspid aortic valve, Atrial septal defect, Diastema, Ventricular septal defect, Dow... ORPHA:329224
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia, Atrial septal defect OMIM:617408
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... OMIM:615382
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Cleft palate, Everted lower lip vermilion, Glossoptosis, Dental crowding, ... OMIM:616367
Hypercalcemia, Infantile, 1
Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Infantile hypercalcemia, Weight loss OMIM:143880
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitation... ORPHA:401923
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia, Central hypothyro... OMIM:301033
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Flexion contracture, Pulmonic stenosis, Lipodystrophy, Atrophic scars, Aty... ORPHA:75496
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular septal defect, Adrenal hyperplasia, Abnormal circulating renin, Ventricular hypertrop... ORPHA:369929
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... ORPHA:500159
Coffin-Siris Syndrome 7
Wide mouth, Bicuspid aortic valve, Short philtrum, Microdontia, Ventricular septal defect, Downtu... OMIM:618027
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Aortic regurgitation, Aortic valve stenosis OMIM:252605
Familial Multiple Lipomatosis
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance, Abnormal tricuspid v... ORPHA:199276
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... OMIM:615830
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Atrial septal defect OMIM:617744
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Decreased serum testosterone co... ORPHA:465508
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus OMIM:300049
Methanol Poisoning
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... ORPHA:31825
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... OMIM:249670
Peters Plus Syndrome
Cleft upper lip, Abnormal cardiac septum morphology, Wide mouth, Anal atresia, Hypoplastic left h... ORPHA:709
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... ORPHA:77296
Necrotizing Enterocolitis
Small for gestational age, Hypotension, Shock, Bradycardia, Hyponatremia, Abnormal glucose homeos... ORPHA:391673
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Abnormal T-wave,... ORPHA:3093
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Intestinal malrotation, Partial dia... ORPHA:2847
Congenital Analbuminemia
Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Small for gestational age, Increased alpha-g... ORPHA:86816
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... ORPHA:79237
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
High palate, Dental crowding, Pulmonic stenosis, Abnormality of the dentition, Mitral valve prola... ORPHA:2868
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglyc... OMIM:175700
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Weill-Marchesani Syndrome
Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Aortic valve stenosis ORPHA:3449
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... ORPHA:251076
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... OMIM:307030
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Atrial septal defect, Decreased response to growth hormone stimula... OMIM:220210
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mit... ORPHA:363705
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... OMIM:246200
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Ventri... OMIM:619343
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Aortic valve stenosis OMIM:261560
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hyperlipidemia, Left bundle branch block, Sinus bradycardia, Left ventricula... ORPHA:439232
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hepatic Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the esoph... OMIM:610168
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bicuspid aortic valve OMIM:619318
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Seckel Syndrome 10
Glucose intolerance, Ventricular hypertrophy, Elevated hemoglobin A1c, Elevated circulating lutei... OMIM:617253
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Wide mouth, Bicuspid aortic valve, Narrow mouth, Atrial septal defect, Everted lower lip vermilio... OMIM:619720
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189439
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Pulmonic stenosis, Abnormality of the dentition, High palate, Abnormal heart valve morphology OMIM:126190
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Tachycardia, Hyperglycemia OMIM:619737
Short Syndrome
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... OMIM:269880
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Aortic Aneurysm, Familial Thoracic 12
High palate, Bicuspid aortic valve OMIM:619825
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... ORPHA:90793
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Narrow palate, High, narrow palate, Cl... ORPHA:96169
Emanuel Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Aortic valve stenosis, Pu... OMIM:609029
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Open mouth OMIM:617751
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase co... OMIM:613327
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis, Cryptorchidism, High, narrow palate, High palate OMIM:301950
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Membranous subvalvular aortic stenosis, Abnormal circ... ORPHA:3191
Sneddon Syndrome
Bicuspid aortic valve, Lymphopenia OMIM:182410
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Increased serum testosterone lev... ORPHA:769
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Hypoplasia of the thymus, Long philtrum, Ventricular septal defect, O... OMIM:617022
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Arr... OMIM:255120
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
3C Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Inguinal hernia, A... ORPHA:7
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Mcdonough Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis OMIM:248950
Isolated Anencephaly
Adrenal hypoplasia, Cleft lip, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholest... ORPHA:633
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Cleft palate, Dysplastic pulmonary valve, Bifid uvula OMIM:300958
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Patent ductus arteriosus OMIM:220220
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Arrhythmia, Hypoglycemia, Transient hyperlipidemia, Hypertrophic cardiomyop... ORPHA:156
Scedosporiosis
Unusual skin infection, Opportunistic fungal infection, Unusual CNS infection, Osteomyelitis, Sin... ORPHA:449280
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Thin v... OMIM:610759
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Secundum atrial septal defect, Hypoglycem... OMIM:609069
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... OMIM:618619
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... ORPHA:1120
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Long philtrum, Ve... ORPHA:457279
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level... ORPHA:79474
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Fl... OMIM:208050
Emanuel Syndrome
Multiple joint contractures, Failure to thrive, Atrial septal defect, Congenital diaphragmatic he... ORPHA:96170
Holzgreve Syndrome
Cleft upper lip, Hypoplastic left heart, Cleft palate OMIM:236110
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Conotr... ORPHA:40366
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Cholesteryl Ester Storage Disease
Adrenal calcification, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Decreased response to growth hormone stimul... OMIM:601808
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Odontoma, Myocarditis ORPHA:2724
Cardiac Valvular Dysplasia 2
Pulmonic stenosis, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aortic valve OMIM:620067
Felty Syndrome
Sinusitis, Sepsis, Recurrent urinary tract infections, Chronic otitis media, Lymphoma, Arthritis,... ORPHA:47612
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... OMIM:243150
Dysbetalipoproteinemia
Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration... ORPHA:412
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Long philtrum OMIM:619721
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Failure to thrive, Aortic valve stenosis, Inguinal hernia, Te... ORPHA:96147
Koolen-De Vries Syndrome
High palate, Cleft upper lip, Bicuspid aortic valve, Narrow palate, Atrial septal defect, Cleft p... OMIM:610443
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr... OMIM:615415
Beta-Ketothiolase Deficiency
Hyperammonemia, Hypotension, Hypoglycemia, Hyperuricemia, Hypertension, Weight loss, Hyperglycemia ORPHA:134
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Aortic Valve Disease 2
Bicuspid aortic valve OMIM:614823
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Secundum atrial septal defect, Lymphopenia, Cleft palate, Splenomegaly, Pulmonic ste... OMIM:612541
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Lateral Meningocele Syndrome
High palate, Bicuspid aortic valve, Long philtrum, Patent ductus arteriosus, Dental crowding, Cry... OMIM:130720
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... ORPHA:2306
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... OMIM:616898
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Ventri... ORPHA:477817
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Hypoglycemia, ... ORPHA:230
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypertriglyceridemia, Hypercholesterolemia, Increased body weig... OMIM:182290
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Glycosuria, Impaired glucose tol... ORPHA:2088
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... ORPHA:681
Mend Syndrome
Aortic valve stenosis OMIM:300960
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hypertension, Co... OMIM:615812
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Nodular goiter, Prema... ORPHA:371428
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Atrioventricular canal de... ORPHA:453499
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Loeys-Dietz Syndrome 4
High palate, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration of the esophag... OMIM:614816
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... ORPHA:99147
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Failure to thrive, Hyperglycemia OMIM:220111
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Dermatan sulfat... OMIM:619698
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, Portal hyperte... ORPHA:79319
Frontometaphyseal Dysplasia 2
High palate, Bicuspid aortic valve, Cleft palate, Pulmonic stenosis, Short philtrum, Bifid uvula,... OMIM:617137
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Insulin resistance, Small for gestational age, Truncal obesity, Hypoglycemia, ... ORPHA:73272
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Monosomy 18Q
Slender build, Failure to thrive, Absence of the pulmonary valve, Secundum atrial septal defect, ... ORPHA:1600
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Rheumatic Fever
Abnormal mitral valve morphology, Sinusitis, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Ab... ORPHA:3099
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Multiple lipomas, Portal hypertension ORPHA:1414
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Vent... ORPHA:370
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Craniosynostosis 1
Systolic heart murmur, Aortic valve stenosis OMIM:123100
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa... OMIM:606721
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... ORPHA:90790
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Squalene Synthase Deficiency
Bicuspid aortic valve, Bilateral cryptorchidism OMIM:618156
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic he... OMIM:600001
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Aortic valve stenosis, Keratan sulfate excretion in urine, Inguinal hernia OMIM:253010
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Inguinal hernia, Right ventricular hypertrophy, Situ... OMIM:267010
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Long philtrum... OMIM:612863
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... OMIM:617575
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Patent ductus arteriosus OMIM:132900
Contractural Arachnodactyly, Congenital
High palate, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitral valve... OMIM:121050
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Inguinal hernia, Camptodactyly ORPHA:459061
Kleefstra Syndrome
Bicuspid aortic valve, Supernumerary nipple, Macroglossia, Everted lower lip vermilion, Advanced ... ORPHA:261494
Placental Insufficiency
Insulin resistance, Abnormal heart morphology, Small for gestational age ORPHA:439167
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia OMIM:613027
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Syndromic Diarrhea
Bicuspid aortic valve, Colitis, Atrial septal defect, Gastritis, Lymphopenia, Splenomegaly, Hypop... ORPHA:84064
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Lower-limb joint contracture, Hypovolemia, Glycosuria, Neonatal insulin-depend... ORPHA:99885
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Progeroid Short Stature With Pigmented Nevi
Bicuspid aortic valve, Aortic valve stenosis, Small for gestational age, Lack of facial subcutane... OMIM:176690
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... ORPHA:95699
Werner Syndrome
Slender build, Telangiectasia of the skin, Type II diabetes mellitus, Lipoatrophy, Thyroid carcin... ORPHA:902
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance ORPHA:90154
Aortic Aneurysm, Familial Thoracic 10
High palate, Bicuspid aortic valve, Dental crowding OMIM:617168
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertriglyc... ORPHA:264580
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Precocious puberty, Atrial septal defect, Mitral regurgitation, Arrhythmia, Hypot... ORPHA:254346
Whipple Disease
Cachexia, Myocarditis, Hypotension, Hypothyroidism, Myocardial infarction, Hyponatremia, Insulin ... ORPHA:3452
Immune-Mediated Necrotizing Myopathy
Neoplasm, Skin rash, Raynaud phenomenon, Palpitations, Myositis, Myocarditis, Congestive heart fa... ORPHA:206569
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Trisomy 17P
Aortic valve stenosis, Patent ductus arteriosus, Hypoplastic left heart, Flexion contracture ORPHA:261290
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Inguinal hernia, Flexion contracture, Steatorrhea, Arthrogryposis mul... ORPHA:440713
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Sepsis, Lymphadenitis,... ORPHA:31205
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Bacterial Toxic-Shock Syndrome
Sepsis, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, Osteomyelitis, Peritoni... ORPHA:36234
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Hypoketotic hyp... ORPHA:228308
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Monosomy 13Q34
Pulmonic stenosis, Hematochezia, Common atrium, Insulin resistance, Infantile hypercalcemia, Obes... ORPHA:96168
Doors Syndrome
Double outlet right ventricle, High palate, Gingival overgrowth, Narrow palate, Macrodontia of pe... ORPHA:79500
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Elevated diastolic blood pressure, Increased circ... ORPHA:90041
Familial Chylomicronemia Syndrome
Failure to thrive, Hyperlipidemia, Decreased body weight, Pulmonary embolism, Hypertriglyceridemi... ORPHA:444490
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Abnormal mitral valve morphology, Pubertal developmental failure in females, Myo... ORPHA:740
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Epis... OMIM:193400
Gitelman Syndrome
Graves disease, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Abno... ORPHA:358
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Ventricular septal defect, Open mouth, Intestinal pseudo-obstruction, Abnormal hear... ORPHA:453504
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Cleft lip, Cleft palate, Adrenal gland agenesis OMIM:611812
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Ventricular septal defect, Open mouth, Intestinal pseudo-obstruction, Abnormal hear... ORPHA:352665
Antisynthetase Syndrome
Telangiectasia of the skin, Neoplasm, Skin rash, Myositis, Myocarditis, Aortic regurgitation, Ker... ORPHA:81
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hypoketotic hypoglycemia, Eleva... ORPHA:157
Gaucher Disease, Type I
Aortic valve stenosis, Mitral regurgitation, Hypertension, Pulmonary arterial hypertension, Epist... OMIM:230800
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus, Obesity, Overweight, Hypertension ORPHA:69663
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Macroglossia OMIM:614501
Adams-Oliver Syndrome 1
Cleft upper lip, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic ... OMIM:100300
Leprechaunism
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Failure to thrive, Hyperinsuline... ORPHA:508
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Pulmonary insufficiency, Ventricular septal hypertrophy, Rig... OMIM:619322
Diamond-Blackfan Anemia 6
Cleft upper lip, Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Persisten... OMIM:612561
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphragmatic hernia, Aortic ... ORPHA:3097
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Abnormal circulating lipid concentration, Truncal obesity, Hypothyroidism, Dilat... OMIM:616541
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Tyshchenko Syndrome
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Supernumerar... OMIM:615102
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, A... OMIM:278000
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia... ORPHA:79102
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Pulmonary embolism, Hypertriglyceridemia, Hypoalbuminem... ORPHA:567548
H Syndrome
Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Abnormal cardiovascular system physiology, He... ORPHA:168569
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... ORPHA:861
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hypotension, Adrenal hypoplasia, Hypoglycemic seizures, Hyp... ORPHA:199296
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Cleft palate OMIM:612370
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypoplasia of the thymus, Cryptorchidism, Cleft palate, Abnormal heart morphology OMIM:214110
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pericarditis, Arthritis OMIM:609939
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... ORPHA:3426
Platelet Disorder, Undefined
Hematological neoplasm, Impaired platelet aggregation, Neuroblastoma, Prolonged bleeding time OMIM:173420
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Ventricular septal defect, Non-midline cleft lip ORPHA:2476
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Interstitial cardiac fibrosis, Dilated car... OMIM:613426
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... ORPHA:247585
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Scorpion Envenomation
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... ORPHA:466677
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556037
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Increased body weight, Elevated circulating creatine kinase concentration, ... ORPHA:79240
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia OMIM:619013
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Bicuspid aortic valve, Rectovaginal fistula, Anal stenosis OMIM:300707
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Serkal Syndrome
Pulmonic stenosis, Malrotation of small bowel, Abnormality of the adrenal glands, Oral cleft, Ven... ORPHA:139466
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy OMIM:250951
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Patent ductus art... ORPHA:99094
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Hyperlipidemia, Palpitations, Elevated circulating creatine kinase concentration... ORPHA:565612
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Dysplastic pulmonary valve, Ventricular septal defect, Unilateral cleft palate, Unila... OMIM:619103
Familial Bicuspid Aortic Valve
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Narrow mouth, Atrial septal defect, Cleft palate, Left ventricular hypertr... OMIM:245600
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Aortic valve stenosis, Juvenile myelomonocytic leukemia, Long philtrum, De... OMIM:613563
Adult-Onset Still Disease
Skin rash, Myocarditis, Arthritis, Meningitis, Hepatitis, Recurrent pharyngitis, Pericarditis ORPHA:829
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556030
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hypoglutaminemia, Hyperammonemia, Increased serum pyruvate, Hy... ORPHA:3008
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Distal Monosomy 15Q
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... ORPHA:1596
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Pyloric stenosis OMIM:614262
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia, Impaired platelet aggregation,... OMIM:601399
Anauxetic Dysplasia 1
Hip contracture, Aortic valve stenosis, Elbow flexion contracture OMIM:607095
X Small Rings
Mitral stenosis, Bicuspid aortic valve, Long philtrum, Ventricular septal defect, Thin upper lip ... ORPHA:96201
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Systemic Lupus Erythematosus
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis OMIM:152700
Glycogen Storage Disease Ia
Hyperlipidemia, Hypoglycemia, Delayed puberty, Hyperuricemia, Fasting hypoglycemia, Hypertension,... OMIM:232200
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Thin vermilion border, Carious teeth, Deep philtrum, Abnormal palate morpholog... ORPHA:2701
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Flexion contracture of finger, Aortic valve stenosis, Small for gestational ag... ORPHA:464311
Legionnaires Disease
Pancreatitis, Sepsis, Arrhythmia, Endocarditis, Myocarditis, Hypotension, Hepatitis, Recurrent ph... ORPHA:549
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland, Cleft palate OMIM:614880
Aortic Arch Interruption
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve atresia, Left ventricular hype... ORPHA:2299
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... OMIM:608328
Systemic Capillary Leak Syndrome
Multiple myeloma, Pancreatitis, Arrhythmia, Hypotension, Myocarditis, Pericarditis ORPHA:188
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of pineal gland, Cleft palate OMIM:614402
Mixed Connective Tissue Disease
Gastritis, Skin rash, Myositis, Myocarditis, Arthritis, Keratoconjunctivitis sicca, Meningitis, G... ORPHA:809
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Cryptorchidism, Hypertrophic cardiomyopathy, Abnormality of the lymphatic system ORPHA:638
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Ventricul... OMIM:617321
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia OMIM:256300
Scrub Typhus
Skin rash, Hypotension, Myocarditis, Anterior uveitis, Meningitis, Infectious encephalitis ORPHA:83317
American Trypanosomiasis
Skin rash, Arrhythmia, Myocarditis, Infectious encephalitis, Cardiomyopathy, Congestive heart fai... ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Panniculitis OMIM:617591
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate OMIM:619239
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Atrial septal defect, Ve... ORPHA:96121
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Elevated circulating growth hormone concentration, Abnormal pulmonary ... ORPHA:97287
Smith-Magenis Syndrome
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, Hypercholesterolemia, ... ORPHA:819
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Geleophysic Dysplasia 2
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, Mitral valve pr... OMIM:614185
Polymyositis
Abnormal mitral valve morphology, Breast carcinoma, Arrhythmia, Vasculitis, Arthritis, Myocardial... ORPHA:732
Galloway-Mowat Syndrome 7
Ventricular septal defect, Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Failure to thrive, Aortic valve stenosis, Small for gestational age,... ORPHA:464306
Geleophysic Dysplasia 1
Mitral stenosis, Aortic valve stenosis, Joint contracture of the hand, Tricuspid stenosis, Campto... OMIM:231050
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... OMIM:277600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Cushing Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopenia, Leukocyt... ORPHA:96253
Drug Reaction With Eosinophilia And Systemic Symptoms