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Gene: Wrn MGI:109635

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Werner Syndrome
Lipoatrophy, Lipodystrophy, Myocardial infarction, Telangiectasia of the skin, Congestive heart f... ORPHA:902
Werner Syndrome
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700

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
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Myocardial infarction, Sudden cardiac death, In... OMIM:610947
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogly... ORPHA:324575
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent duc... ORPHA:3427
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia ORPHA:329249
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Insu... OMIM:612526
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Increased C-peptide level, Large for gestational age, Hyperinsulinemia, Hypoglycemic... ORPHA:276575
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Increased C-peptide level, Large for gestational age, Hyperinsuli... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension ORPHA:79084
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect OMIM:615981
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent Staphylococcus aureus infections, Recurrent abscess formatio... OMIM:613860
Analbuminemia
Lipodystrophy, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increase... OMIM:616000
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Hypogly... ORPHA:276556
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Intellectual Developmental Disorder, X-Linked 106
Thin upper lip vermilion, Bicuspid aortic valve, Cryptorchidism, Thick vermilion border, Open mou... OMIM:300997
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Diabetes mellitus, Elevated circulating creatine kinase concentration, Hypertrigl... OMIM:610717
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridemia, Adipose ti... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Cardiac Diverticulum
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... ORPHA:1686
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... ORPHA:210122
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Intestinal pseudo-obstruction, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve OMIM:618496
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios... OMIM:615009
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Retinitis Pigmentosa 89
Bicuspid aortic valve, Esophageal varix, Hepatosplenomegaly OMIM:618955
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Dental malocclusion, P... OMIM:619149
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... ORPHA:2041
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... ORPHA:276608
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism ORPHA:1074
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Mitral valve prolapse, Thi... OMIM:314400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Hypoplastic left heart, Bicuspid aortic valve, Double outlet right vent... OMIM:618845
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperl... OMIM:232400
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemi... ORPHA:79083
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia ORPHA:436182
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement OMIM:615377
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... ORPHA:79086
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Hypertriglyceride... OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Hype... ORPHA:2348
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Bicu... OMIM:609192
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital a... ORPHA:96181
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... ORPHA:369873
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Hengel-Maroofian-Schols Syndrome
Bicuspid aortic valve, Thick vermilion border, Short philtrum, Widely spaced teeth, Everted lower... OMIM:619641
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis, Enamel hypoplasia ORPHA:2871
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... ORPHA:228410
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Congestiv... ORPHA:363618
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hyperlipidemia, Delayed puberty, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:369
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent... ORPHA:284169
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Cryptorchidism, Patent ductus a... OMIM:243310
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li... OMIM:248370
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... ORPHA:280365
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... ORPHA:369929
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Cleft palate, Glossopt... OMIM:616367
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Thick lower ... OMIM:239850
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... ORPHA:329224
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Increased serum beta-hexosaminidase OMIM:252605
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Lipodystrophy, Flexion contracture, Atypical scarring of skin, Atrophic scars, Pulmonic stenosis,... ORPHA:75496
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductu... ORPHA:500159
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Abnormal tricuspid v... ORPHA:199276
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Everted lower lip vermilion, Pulmonic stenos... OMIM:249670
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Thick lower lip vermi... OMIM:618027
Essential Fructosuria
Hyperglycemia ORPHA:2056
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Peters Plus Syndrome
Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Cryptorch... ORPHA:709
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increa... ORPHA:79237
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... ORPHA:31825
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve OMIM:617744
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Dental crowding, Abnormality of the dentition, Mitral valve prol... ORPHA:2868
Necrotizing Enterocolitis
Hyponatremia, Shock, Small for gestational age, Abnormal heart morphology, Bradycardia, Abnormal ... ORPHA:391673
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn... ORPHA:2847
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Bicuspid aortic valve, Anemia of inadequate production, Bone marrow hypoc... OMIM:614900
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal heart morphology, Camptodactyly of toe, Umbilical hernia, Hyperglycemia... OMIM:175700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... ORPHA:71212
8P23.1 Duplication Syndrome
Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long... ORPHA:251076
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Lymphoproliferative disorder, Recurrent viral infections, Secundum atr... OMIM:614868
Jansen-De Vries Syndrome
Wide mouth, Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Seckel Syndrome 10
Ventricular hypertrophy, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, ... OMIM:617253
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Elevated jugular venous pressure, Diabetes mellitus, ... ORPHA:465508
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98855
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale OMIM:247610
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Tented upper lip vermilion, Exaggerated cupid's bow, Bicuspid aortic valve, Narrow mouth, Deep ph... OMIM:619720
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Cleft lip, Patent ductus arteriosus, Dilated ca... OMIM:619343
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, High palate OMIM:619825
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp... ORPHA:681
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98853
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Tachycardia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Anal atresia OMIM:619318
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Bicu... OMIM:610168
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating cre... OMIM:613327
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Obesity, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Subv... ORPHA:3191
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Sneddon Syndrome
Lymphopenia, Bicuspid aortic valve OMIM:182410
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Open mouth OMIM:617751
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Mitral... ORPHA:555877
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98863
Koolen-De Vries Syndrome
Bicuspid aortic valve, Abnormal dental enamel morphology, Abnormality of the dentition, High, nar... ORPHA:96169
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:619267
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Emanuel Syndrome
Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, ... OMIM:609029
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
3C Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia,... ORPHA:7
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis OMIM:220220
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen... OMIM:269880
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Scedosporiosis
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic cardiomyop... ORPHA:156
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Precocious puberty, Cleft palate, Bifid uvula, Dysplastic pulmonary valve OMIM:300958
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Ventricular septal defect, Impaired... ORPHA:769
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Branchial Arch Syndrome, X-Linked
High, narrow palate, High palate, Pulmonic stenosis, Cryptorchidism OMIM:301950
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, High palate, Atrioventricular canal defect, Median ... ORPHA:40366
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defect, Dextrotransposition of... OMIM:618619
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect,... OMIM:610759
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Atypical Werner Syndrome
Fasting hyperinsulinemia, Hyperglycemia, Abnormal circulating leptin concentration, Generalized l... ORPHA:79474
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Emanuel Syndrome
Inguinal hernia, Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Cong... ORPHA:96170
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal aort... ORPHA:1120
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, High palate, Long phi... OMIM:616652
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long... OMIM:618529
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... ORPHA:457279
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Aortic Valve Disease 2
Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis OMIM:614823
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pyloric stenosis, Patent ductu... OMIM:610443
Chromosome 18Q Deletion Syndrome
Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Decreased response to... OMIM:601808
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Inguinal hernia, Failure to thrive, Femoral hernia, Obesity, Conotruncal de... ORPHA:96147
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, Transient hyper... OMIM:255120
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve, Long philtrum OMIM:619721
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Odontoma, Myocarditis ORPHA:2724
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... ORPHA:47612
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Angina pectoris... ORPHA:412
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Bicuspid aortic valve, Hypoglycemia, Umbilical hernia, Aortic valve st... OMIM:614501
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Conotrunc... ORPHA:2306
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn... ORPHA:477817
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... ORPHA:230
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Cardiac Valvular Dysplasia 2
Dysplastic aortic valve, Bicuspid aortic valve, Pulmonic stenosis, Subvalvular aortic stenosis OMIM:620067
Lateral Meningocele Syndrome
Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus ... OMIM:130720
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Hypothyroidism, Effo... ORPHA:3282
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Abnormal heart mor... OMIM:182290
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, Hypotension, Hyperglycemia ORPHA:134
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Aortic valve atresia, Perimembrano... ORPHA:1457
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Secundum atrial septal defect, ... OMIM:612541
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Pol... ORPHA:371428
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... OMIM:617022
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Cleft palate, Furrowed tongue, ... ORPHA:453499
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... OMIM:214150
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Slender build, Secundum atrial septal defect... ORPHA:1600
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, High, narrow palate, Mitral va... OMIM:614816
Immunodeficiency 9
Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta OMIM:612782
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypophosphatemia, Fasting hy... ORPHA:2088
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Multiple lipomas, Hyperlipidemia, Portal hypertension ORPHA:1414
Trisomy 17P
Flexion contracture, Patent ductus arteriosus, Hypoplastic left heart, Aortic valve stenosis ORPHA:261290
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic hypoglycemia,... ORPHA:79319
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Recurrent phary... ORPHA:3099
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Dermatan sulfate excretion in urine, Left vent... OMIM:619698
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... ORPHA:95699
Placental Insufficiency
Insulin resistance, Small for gestational age, Abnormal heart morphology ORPHA:439167
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Diabetes mellitus, Cong... OMIM:600001
Mucopolysaccharidosis, Type Ivb
Inguinal hernia, Grayish enamel, Mitral regurgitation, Chondroitin sulfate excretion in urine, Ao... OMIM:253010
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... ORPHA:90790
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... OMIM:273800
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Aortic valve stenosis, Inguinal hernia, Camptodactyly ORPHA:459061
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, ... OMIM:208050
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Bicuspid aortic valve OMIM:132900
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... OMIM:615888
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Kleefstra Syndrome
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Bicuspid aortic v... ORPHA:261494
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Meckel Syndrome, Type 7
Inguinal hernia, Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Atrial se... OMIM:267010
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia OMIM:615453
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Werner Syndrome
Lipoatrophy, Lipodystrophy, Myocardial infarction, Telangiectasia of the skin, Congestive heart f... ORPHA:902
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Bicuspid aortic valve, Lack of facial subcutaneous fat, Small for gestational ... OMIM:176690
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Deep philtrum, Pierre-Robin se... OMIM:617137
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Precocious puberty, Hyperlipidemia, Obesity, Mit... ORPHA:254346
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Bicuspid aortic valve, Gastritis, Ventricular septal defect, Increa... ORPHA:84064
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased... ORPHA:264580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Squalene Synthase Deficiency
Bilateral cryptorchidism, Bicuspid aortic valve OMIM:618156
Doors Syndrome
Thin upper lip vermilion, Adrenal hyperplasia, Short lingual frenulum, Thrombocytosis, Abnormalit... ORPHA:79500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Neoplasm, Palpita... ORPHA:206569
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Sepsis, Meningitis, Infectious... ORPHA:36234
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Steatorrhea, Postprandial hyperglycemi... ORPHA:440713
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... OMIM:265380
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulating acylcarnit... ORPHA:228308
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypo... ORPHA:90041
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardia... OMIM:212138
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Cachexia, Myocard... ORPHA:3452
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... ORPHA:31205
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... ORPHA:90674
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... ORPHA:81
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Ventricular septal defect, Adrenal gland agenesis, Cleft palate OMIM:611812
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Abnormal heart morphology, Weight loss... ORPHA:99885
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Submucous cleft hard pal... OMIM:612863
Monosomy 13Q34
Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Common at... ORPHA:96168
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Arrhythmia OMIM:616298
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Insulin resistance, Absence o... ORPHA:740
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy, Right bu... OMIM:619322
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypoalbuminemia, Hypothy... OMIM:617575
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Patent du... OMIM:612561
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Hashimot... ORPHA:358
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... ORPHA:849
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe... OMIM:609069
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor... OMIM:193400
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:352665
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate OMIM:611867
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Overweight, Obesity, Hypertension, Hypercholesterolemia ORPHA:69663
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... ORPHA:199296
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Dilated cardiomyopathy, Truncal obesity, ... OMIM:616541
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia OMIM:616730
Bamforth-Lazarus Syndrome
Thyroid agenesis, Cleft palate, Congenital hypothyroidism OMIM:241850
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... OMIM:620300
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Treacher-Collins Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... ORPHA:861
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Portal hype... OMIM:278000
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Cleft palat... OMIM:615102
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Familial Chylomicronemia Syndrome
Diabetes mellitus, Hypertriglyceridemia, Pulmonary embolism, Hyperlipidemia, Increased circulatin... ORPHA:444490
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Platelet Disorder, Undefined
Prolonged bleeding time, Neuroblastoma, Impaired platelet aggregation, Hematological neoplasm OMIM:173420
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Cleft pa... OMIM:100300
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat... ORPHA:3426
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
H Syndrome
Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Abnormal cardiovascular system physiology... ORPHA:168569
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... ORPHA:79102
Distal Deletion 15Q
Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mi... ORPHA:1596
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus, Cleft palate, Abnormal heart morphology OMIM:214110
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556037
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I... ORPHA:79240
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Hypogonadotropic hypogonadism, Cleft palate, Cryptorchidism OMIM:612370
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia OMIM:619013
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Inguinal hernia, Subvalvular aortic stenosis OMIM:250951
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis OMIM:617660
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, N... OMIM:245600
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Serkal Syndrome
Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Abnormality of the adrena... ORPHA:139466
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart ORPHA:2476
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Primary Triglyceride Deposit Cardiomyovasculopathy
Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentration, Hyperlipi... ORPHA:565612
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556030
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do... OMIM:231060
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Adult-Onset Still Disease
Pericarditis, Skin rash, Myocarditis, Recurrent pharyngitis, Hepatitis, Arthritis, Meningitis ORPHA:829
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, High palate, Bicuspid aortic valve, Dental crowding OMIM:617168
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Cryptorchidism, Deep philtrum, Splenomeg... OMIM:613563
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Hypotension, Multiple myeloma, Arrhythmia, Pancreatitis ORPHA:188
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Myelodysplasia, Acute monocytic leuke... OMIM:601399
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate... OMIM:619103
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Fasting hypoglycemia, Del... OMIM:232200
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Failure to thrive, Ventricular septal defect, Small for gestational age, An... ORPHA:464311
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myositis, Skin rash, Gastriti... ORPHA:809
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis... OMIM:617321
Legionnaires Disease
Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Sepsis, Hypotension, A... ORPHA:549
Anauxetic Dysplasia 1
Hip contracture, Aortic valve stenosis, Elbow flexion contracture OMIM:607095
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Cleft palate ORPHA:1681
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... ORPHA:819
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Hypotension, Infectious encephalitis ORPHA:83317
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
X Small Rings
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Long philtrum, Mitral... ORPHA:96201
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
American Trypanosomiasis
Skin rash, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Infectious encephal... ORPHA:3386
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circulating growth ho... ORPHA:97287
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Geleophysic Dysplasia 2
Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary... OMIM:614185
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Anterior pituitary ... ORPHA:464306
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Panniculitis, Failure to thrive OMIM:617591
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Mend Syndrome
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal heart morphology, Aortic valve... ORPHA:401973
Geleophysic Dysplasia 1
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit... OMIM:231050
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteri... ORPHA:96121
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosu... ORPHA:3384
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio... ORPHA:159
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Abnorm... ORPHA:183
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Deep philt... OMIM:300855
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Multiple lipomas, Tricuspid valve prolapse, Pulmonary arterial hypertension, Aorti... ORPHA:2396
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:177735
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis ORPHA:2780
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ... OMIM:256040
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Congenital Enterovirus Infection
Skin rash, Pericardial effusion, Myocarditis, Meningitis, Hepatitis, Sepsis, Cardiomyopathy, Hypo... ORPHA:292
Hajdu-Cheney Syndrome
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Hern... ORPHA:955
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Epistaxis, Hyperlipidemia, Thyroiditis, Hypoglycemic seizures... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia OMIM:602579
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Abnormality of thyroid physiology, Small for gestational age, Congesti... ORPHA:1830
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Microscopic Polyangiitis
Episcleritis, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Bicuspid aortic valve, Valvular pulmonary stenosis, Rectovaginal fistul... OMIM:300707
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia OMIM:603471
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... ORPHA:35909
Spondylodysplastic Ehlers-Danlos Syndrome
Inguinal hernia, Multiple joint contractures, Abnormal heart valve morphology, Agenesis of pineal... ORPHA:536471
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Small for gestational age, ... OMIM:220111
22Q11.2 Deletion Syndrome
Short philtrum, Hypoplasia of the thymus, Atrial septal defect, Hypothyroidism, Hypoparathyroidis... ORPHA:567
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Elevated circulating thyroid-stimulatin... OMIM:618183
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Q Fever
Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,... ORPHA:781
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... ORPHA:436252
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Primary adrenal insufficienc... ORPHA:275761
Werner Syndrome
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morpho... ORPHA:268261
Myhre Syndrome
Ventricular septal defect, Small for gestational age, Pericardial effusion, Patent ductus arterio... OMIM:139210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal d... ORPHA:353281
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve OMIM:602531
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Hypertriglyceridemia, Tricuspid regurgitation, Elevated hemoglobin A1... OMIM:619127
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Congestive heart failure, Obesity, Pineal cyst, Cardiomy... ORPHA:98908
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal dental morphology, Bicuspid aortic valve, Ventricular septal defect, Decreased response ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal dental morphology, Bicuspid aortic valve, Ventricular septal defect, Decreased response ... ORPHA:363958
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Delayed puberty OMIM:232220
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Patent ductus arteriosus, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash ORPHA:85414
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph... OMIM:602450
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive, De... OMIM:203400
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral... ORPHA:2848
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus... OMIM:613177
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Atrial septal defect, Absent nipple, Bicuspid aortic valve, Protruding ... OMIM:612289
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Hypothyroidism, Patent ductus arteriosus, Flexion contra... OMIM:300166
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ... ORPHA:199299
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse,... OMIM:611962
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Short philt... OMIM:188400
Eec Syndrome
Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Carious... ORPHA:1896
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Hypertension, Tru... OMIM:209900
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ... ORPHA:2331
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip v... OMIM:218330
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Increased serum ... ORPHA:100080
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Atelis Syndrome 2
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... OMIM:620185
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis ORPHA:231111
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Sepsis, Nephritis, Infectious encephalitis, Brai... ORPHA:2552
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Panc... ORPHA:892
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Renal-Hepatic-Pancreatic Dysplasia 1
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Atrial septal defect, Aort... OMIM:208540
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Tetralogy of Fallot, ... ORPHA:508498
Glycogen Storage Disease Ic
Hypoglycemia, Spider hemangioma, Hyperlipidemia, Xanthelasma, Hypertension, Hyperuricemia, Delaye... OMIM:232240
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Hyperc... ORPHA:95409
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Immunodeficiency 22
Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Panniculitis, Chronic... OMIM:615758
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, ... OMIM:612474
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri... ORPHA:369837
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptor... ORPHA:1772
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Failure to thrive in infancy, Fail... OMIM:619418
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Listeriosis
Brain abscess, Pericarditis, Osteomyelitis, Unusual skin infection, Pneumonia, Pustule, Myocardit... ORPHA:533
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High palate, Long philtrum, Atria... OMIM:271640
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Hypertrophic cardiomyopathy, Recurrent hypoglycemia, Hyperglycemi... OMIM:124000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, ... OMIM:607872
Relapsing Polychondritis
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... ORPHA:728
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, Br... ORPHA:73263
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... OMIM:307030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea... OMIM:235400
Supravalvular Aortic Stenosis
Pulmonic stenosis OMIM:185500
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cleft lip, Cryptorchidism, Cleft palate, Pulmonic stenosis, ... OMIM:619123
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... ORPHA:438213
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankylo... OMIM:618021
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Williams Syndrome
Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Microdontia, Atrial septal defect, Hypothyr... ORPHA:904
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... ORPHA:221
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... OMIM:208530
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Inguinal hernia ORPHA:2308
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,... ORPHA:444077
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal d... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal d... ORPHA:353277
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypokalemia, Hypotension OMIM:611489
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... ORPHA:449285
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Dextrocardia, Asplenia, ... OMIM:619657
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Increased serum ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Increased serum ... ORPHA:100082
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, High, narrow palate, ... OMIM:619475
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Distal Deletion 19P
Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Pulmonary valv... ORPHA:96129
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Telangiect... ORPHA:125
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis... ORPHA:31204
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Hypothyroidism, Obesity, Subvalvular aortic stenosis OMIM:600430
Faciocardiorenal Syndrome
Narrow mouth, Cleft palate, Hypodontia, Tricuspid valve prolapse, Endocardial fibroelastosis, Smo... ORPHA:1973
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Storage Pool Platelet Disease
Prolonged bleeding time, Myelodysplasia, Acute leukemia OMIM:185050
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Myositis, Fasciitis, Skin rash, Orchitis, Recurrent pharyngitis, Peritonitis, Vascu... ORPHA:32960
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive protein concentr... OMIM:619573
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, E... ORPHA:29207
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:85138
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Narrow mouth, Anal atresia OMIM:617666
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Nail bed telangiectas... ORPHA:90291
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo... OMIM:615668
Marfan Syndrome
Bicuspid aortic valve, Dental crowding, Mitral annular calcification, Narrow palate, Mitral valve... OMIM:154700
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Subvalvular aorti... OMIM:619461
Okamoto Syndrome
Omphalocele, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal ... ORPHA:2729
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, R... ORPHA:117
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619802
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas... OMIM:208900
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100075
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... OMIM:615849
Robinow Syndrome
Dental crowding, Orofacial cleft, Atrial septal defect, Persistence of primary teeth, Cryptorchid... ORPHA:97360
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc... ORPHA:36238
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, High urinary gonadotropin level, Abnormality of the dentition, Celiac dise... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, High urinary gonadotropin level, Abnormality of the dentition, Celiac dise... ORPHA:99228
Monosomy X
Bicuspid aortic valve, High urinary gonadotropin level, Abnormality of the dentition, Celiac dise... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, High urinary gonadotropin level, Abnormality of the dentition, Celiac dise... ORPHA:881
Mend Syndrome
Aortic valve stenosis, Failure to thrive OMIM:300960
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... ORPHA:168558
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... ORPHA:2126
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Adrenal insufficiency, Increase... ORPHA:427
Williams-Beuren Syndrome
Colonic diverticula, Atrial septal defect, Diabetes mellitus, Bicuspid aortic valve, Ventricular ... OMIM:194050
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic ... ORPHA:810
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, High palate, Dextrocardia ORPHA:536545
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... ORPHA:391665
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Paten... OMIM:616028
Bardet-Biedl Syndrome 20
Atrial septal defect, Male hypogonadism, Hypercholesterolemia, Obesity OMIM:619471
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Paten... OMIM:613795
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circulati... ORPHA:567983
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
Tangier Disease
Left ventricular hypertrophy, Coronary artery stenosis, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Uveitis, Synovitis, Hypertensio... OMIM:186580
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Meningitis, Recurrent pharyngitis, Vasculitis, Art... ORPHA:397
Lujo Hemorrhagic Fever
Shock, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Severe viral infecti... ORPHA:319213
Chime Syndrome
Abnormal dental morphology, Ventricular septal defect, Abnormality of the dentition, Supernumerar... ORPHA:3474
Mowat-Wilson Syndrome
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Widely spaced teeth, Bifid u... ORPHA:2152
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism ORPHA:567546
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Recurrent ... ORPHA:900
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Patent ductus a... OMIM:115470
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... OMIM:619534
Tetraamelia Syndrome 1
Cleft upper lip, Asplenia, Cleft palate, Adrenal gland agenesis, Anal atresia OMIM:273395
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Short philtrum, Bifid uvula,... ORPHA:261537
Aicardi-Goutieres Syndrome 9
Pericarditis, Acute pancreatitis, Recurrent urinary tract infections, Chilblains, Portal hyperten... OMIM:619487
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo... ORPHA:90794
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Complete atrioventricular canal de... OMIM:236680
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypovolem... ORPHA:173
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Adult Acute Respiratory Distress Syndrome
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension ORPHA:70578
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Tricuspid regurgitation, Decreased circulating copper co... OMIM:300972
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Skin rash, Angina pecto... ORPHA:93672
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Chalazion OMIM:613355
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Meningitis, Osteoarthritis, Vasculitis,... ORPHA:342
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Short philtrum, Bifid uvula,... ORPHA:261552
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis OMIM:618780
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperthyroidism, Lipoatrophy, Camptodacty... ORPHA:3455
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... ORPHA:1304
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... OMIM:611376
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Epistaxis, Pericardial effusion, Increased circulating ferrit... ORPHA:167
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Failure to thrive, Elevated ci... OMIM:263400
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... ORPHA:31824
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hyperparathyroidism, Hypercholesterolemia, Abnormal dental enamel ... ORPHA:534
Alagille Syndrome 1
Failure to thrive, Hypertriglyceridemia, Ventricular septal defect, Papillary thyroid carcinoma, ... OMIM:118450
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... ORPHA:99827
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Thin upper lip vermilion, Bicuspid aortic valve, Carious teeth, Bilateral cryp... OMIM:150230
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Cardiac arrest, Dilated cardiomyopathy, Hyperammonemia, Weight loss, Rec... ORPHA:20
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Lipoma, Subvalvular aortic stenosis, Atrial septal defect, Multiple ce... OMIM:613001
Holoprosencephaly 14
Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl... OMIM:619895
Proteus-Like Syndrome
Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ova... ORPHA:2969
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... OMIM:263800
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis, Erythema nodosum, Inv... ORPHA:228123
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia ORPHA:99828
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Thin vermilion border, ... ORPHA:96123
Tenorio Syndrome
Raynaud phenomenon, Syncope, Hypoglycemia, Hypoinsulinemia OMIM:616260
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal f... OMIM:301030
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism, Hypotension, Abnormal heart morphology ORPHA:85445
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Secundum atrial septal defect, Cryptorchidism, Downturned... OMIM:264090
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Small intestine c... ORPHA:100078
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hypertensive crisis, Pneumonia, Myocarditis, Severe infection, Severe viral infect... ORPHA:544482
Familial Mediterranean Fever
Pericarditis, Orchitis, Meningitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas OMIM:249100
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Hypotension ORPHA:79155
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:1338
Microphthalmia, Syndromic 1
Dental crowding, Aganglionic megacolon, Bicuspid aortic valve, Cleft upper lip, High, narrow pala... OMIM:309800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyroid hypoplasia, ... OMIM:620186
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Hypotension, O... ORPHA:439822
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Elevated circulating creatine k... OMIM:309000
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:614114
Meningococcal Meningitis
Hypotension, Shock, Elevated circulating C-reactive protein concentration ORPHA:33475
Nipah Virus Disease
Hypotension ORPHA:99825
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroiditis, Lymphad... ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Degcags Syndrome
Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Patent foramen ovale, Hiat... OMIM:619488
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Mercury Poisoning
Hypertension, Hypokalemia, Tachycardia, Hypotension ORPHA:330021
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated... ORPHA:79318
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Maculopapular exanthema, Skin rash, Orchitis, Pancreatitis, Sev... ORPHA:99826
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Cardiomyopathy, Pericarditis, Prolonged prothrombin time OMIM:212065
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Abnormal pericardium morphology, Acute colitis, Congestive heart failure ORPHA:67
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Intestinal ca... ORPHA:100079
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Bicarbonaturia, Hypovolemia, Subvalvular aortic stenosis, Hypokalemia,... ORPHA:47159
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... ORPHA:31826
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Failure to thrive, Subvalvular aortic ... ORPHA:65286
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Neonatal insulin... ORPHA:2255
Bartter Syndrome, Type 3
Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating... OMIM:607364
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... ORPHA:90340
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:601803
Leptospirosis
Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uveitis, Retinal hemorrh... ORPHA:509
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis OMIM:217085
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Right ventricular failure, Lymphoma, Recurrent infections, Intestinal bleeding, ... ORPHA:90363
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Weight loss ORPHA:98850
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Br... ORPHA:90051
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Patent ductus art... OMIM:619702
Alexander Disease
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Failure t... ORPHA:58
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent... ORPHA:340
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Arrhythmia, Failure to thrive ORPHA:2135
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia ORPHA:428
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Hypoglycemia, Hepatic necrosis, Hepatocellular necrosis, Hype... ORPHA:90062
Leopard Syndrome 1
Bundle branch block, Delayed menarche, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Vasculitis, Vasculitis in the skin, Malar rash, Meningitis ORPHA:50918
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Elevated circulating creatinine concentration, Hyperuricemia, Hypotension OMIM:174000
Tetrasomy 9P
Pericarditis, Myositis, Recurrent urinary tract infections, Dextrocardia, Raynaud phenomenon, Pil... ORPHA:3310
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Joint contracture of the h... OMIM:280000
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
African Trypanosomiasis
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Second degree atrio... ORPHA:3385
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract... OMIM:619503
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... OMIM:601992
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis ORPHA:1272
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... ORPHA:466650
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension, Weight loss ORPHA:98849
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Hypothyroidism, Aortic regurgitation, Subvalvular aortic stenosis ORPHA:1052
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Hellp Syndrome
Cerebral hemorrhage, Increased body weight, Internal hemorrhage, Hypotension ORPHA:244242
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Hypotension ORPHA:93256
Ayme-Gripp Syndrome
Pericarditis OMIM:601088
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Carious teeth, Neopla... ORPHA:744
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Plague
Tachycardia, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707

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 Wrn

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 Wrn.

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

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MGI Allele Allele Type Produced
Wrnem1(IMPC)Ccpcz Exon Deletion Mice, Tissue

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