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Gene: Ly6e MGI:106651

Gene Summary

Name:

lymphocyte antigen 6 family member E

Synonyms:

Ly67, Sca-2, Tsa1, TSA-1, RIG-E, 9804

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
pallor	Ly6e^em1(IMPC)Bay	HOM	E12.5
embryonic growth retardation	Ly6e^em1(IMPC)Bay	HET	E12.5
embryonic growth retardation	Ly6e^em1(IMPC)Bay	HOM	E12.5
abnormal embryo size	Ly6e^em1(IMPC)Bay	HOM	E12.5
abnormal placenta size	Ly6e^em1(IMPC)Bay	HOM	E12.5
preweaning lethality, complete penetrance	Ly6e^em1(IMPC)Bay	HOM	Early adult
pale yolk sac	Ly6e^em1(IMPC)Bay	HOM	E12.5
prenatal lethality	Ly6e^em1(IMPC)Bay	HOM	E18.5

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ly6e 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.

Human diseases associated with Ly6e (0 diseases)
Human diseases predicted to be associated with Ly6e (597 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ly6e by phenotypic similarity.

Disease	Matching phenotypes	Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature	Intrauterine growth retardation, Short stature	OMIM:135950
Cardiomyopathy, Dilated, 1M	Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac...	OMIM:607482
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula...	OMIM:611880
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh...	OMIM:613424
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Cardiomyopathy, Dilated, 1Ee	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613252
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613286
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic...	OMIM:613172
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:606685
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Ethanolaminosis	Cardiomegaly	OMIM:227150
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Glycogen Storage Disease Due To Lamp-2 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:34587
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 3B	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:302045
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Bardet-Biedl Syndrome 2	Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus, Dilated cardiomyopathy	OMIM:615981
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611615
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ...	OMIM:613255
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Hemochromatosis, Type 2A	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiom...	OMIM:602390
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy	OMIM:610140
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:616198
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Arrhythmia	ORPHA:154
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef...	OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 28	Left atrial enlargement, Systolic anterior motion of the mitral valve, Concentric hypertrophic ca...	OMIM:619402
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Hypothyroidism, Cardiomyopathy	OMIM:619647
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Hypogona...	ORPHA:79230
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy	OMIM:619903
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Dilated cardiomyopathy, Left ventricular hypertrophy	ORPHA:206546
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Dilated cardiomyopathy	OMIM:604286
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef...	OMIM:115197
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy	OMIM:608099
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Diabetes mellitus, Cardiomyopathy	ORPHA:320360
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Cryptorchidism, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Reduced left ventricular ejection fraction, Interstitial cardiac ...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Dilated cardiomyopathy	OMIM:612937
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy	OMIM:300718
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy	OMIM:300580
8P23.1 Duplication Syndrome	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Adrenal insufficiency	ORPHA:251076
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Cardiomyopathy, Left ventricular hypertrophy	OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Dilated cardiomyopathy, Reduced systolic function	OMIM:616827
Myopathy, Distal, 1	Left atrial enlargement, Dilated cardiomyopathy	OMIM:160500
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency	OMIM:262700
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp...	OMIM:103900
Dpm3-Cdg	Dilated cardiomyopathy	ORPHA:263494
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa...	OMIM:620135
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block	ORPHA:206559
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr...	OMIM:611878
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Decreased testicul...	OMIM:610198
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Delayed puberty, Ischemic stroke, Decreased response to growth hormone stimulation test, Hyperten...	ORPHA:280679
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov...	OMIM:611705
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Dilated cardiomyopathy	ORPHA:34515
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Hypertro...	ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca...	OMIM:614473
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive prima...	ORPHA:251274
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Pituitary Adenoma 1, Multiple Types	Increased circulating prolactin concentration, Hypertension, Pituitary growth hormone cell adenom...	OMIM:102200
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo...	OMIM:300845
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Abnormal circulating renin, Ventricular hypertrophy, Hypertension, Pulmonary arterial hypertensio...	ORPHA:369929
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Reduced systolic function	OMIM:618805
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Hyperhi...	ORPHA:860
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Hypergonadotropic hypogonadism, Telangiectasia of the skin, Dilated cardiomyopath...	OMIM:212112
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar...	OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Lef...	OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti...	OMIM:620609
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio...	OMIM:619167
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:252011
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy	ORPHA:1349
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Arrhythmia, Hypergonadotropic hypogonadism	OMIM:615084
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome...	ORPHA:3092
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Hypertension, Secretory adrenocortical adenoma, Adrenal hyperplasia, ...	ORPHA:404
Coronary Arterial Fistula	Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte...	ORPHA:2041
Dk1-Cdg	Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D...	ORPHA:91131
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Hypertension, ...	ORPHA:403
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Cirrhotic Cardiomyopathy	Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart...	ORPHA:57777
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Renovascular hypertension, Type II diabetes mellitus, Bicuspid aortic valve...	ORPHA:401923
Isolated Atp Synthase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Hypothyroidism, Hypogonadism, Arrhythmia, Dilated card...	ORPHA:254913
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ...	OMIM:201910
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy	OMIM:161800
Breath-Holding Spells	Pallor	OMIM:607578
Myopathy, Centronuclear, 5	Dilated cardiomyopathy, Mitral regurgitation	OMIM:615959
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy	ORPHA:171442
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Hypoplasia of the thymus, Right atrial enlargement, Pericardial effus...	OMIM:619313
Loeffler Endocarditis	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa...	ORPHA:75566
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Arrhythmia, Hypergonadotropic hypogonadism	ORPHA:352447
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macroorchidism	OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricula...	OMIM:613874
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas...	OMIM:262600
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Tricuspid regurgitation, Neonatal death, Cerebral hemorrhage, Left ventricular dilat...	OMIM:620300
Timothy Syndrome	Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Hypoth...	OMIM:601005
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Palpitations, Adrenal pheochromocytoma, Hypertension associated with pheochromocyto...	OMIM:605373
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal...	OMIM:219080
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy	OMIM:618120
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa...	ORPHA:732
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula...	OMIM:620152
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Hyper...	OMIM:168000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis	OMIM:613576
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level	OMIM:618838
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy	OMIM:255310
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Hepatomegaly, Abnormal heart morphology, Splenomegaly, Arrhyt...	ORPHA:398124
Muscular Dystrophy, Becker Type	Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte...	ORPHA:90793
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hyperhidrosis, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:614299
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy	ORPHA:272
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardi...	OMIM:614921
Hemochromatosis, Type 1	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadotropic hypogonadi...	OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas...	OMIM:615954
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Bilater...	ORPHA:2326
Familial Atrial Myxoma	Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon...	ORPHA:615
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Hypertension, Adrenogenital syndrome	OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circula...	OMIM:615830
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy	ORPHA:59135
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Bilateral cryptorchidism, Cardiomegaly, Atrial sep...	OMIM:618652
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:231530
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Ventricular fibrillation...	OMIM:300952
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma...	ORPHA:1677
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hypertrophic cardiomyopathy, Adrenal insufficiency	OMIM:619386
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Optic Atrophy 1	Pallor	OMIM:165500
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG	OMIM:310200
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Hepatomegaly, Prolonged QT interval, Patent foramen ovale, Pericardial effu...	ORPHA:26793
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Pallor	OMIM:613561
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Dominant Beta-Thalassemia	Delayed puberty, Hypoparathyroidism, High-output congestive heart failure, Hypothyroidism, Hepato...	ORPHA:231226
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Hemochromatosis, Type 2B	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:613313
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Hyperhidrosis, Cardiomegaly, Pulmonary venous hypertensio...	ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:611126
Muscular Dystrophy, Congenital, Megaconial Type	Dilated cardiomyopathy	OMIM:602541
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Cardiomyopathy, Cryptorchidism, Diabetes mellitus, Arrhythmia, Atrial sep...	OMIM:249270
Aa Amyloidosis	Enlarged kidney, Hepatomegaly, Hypotension, Hypothyroidism, Abnormal heart morphology, Adrenal in...	ORPHA:85445
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Prolonged QT interval, Bilateral cryptorchidism, Hypothyroidi...	ORPHA:66634
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction	OMIM:208000
Hemoglobin D Disease	Pallor	ORPHA:90039
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi...	OMIM:616028
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova...	OMIM:619343
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Abnormal cardiom...	ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Hyperaldosteronism	OMIM:613677
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Barth Syndrome	Congestive heart failure, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Arrhythmia, Incre...	OMIM:302060
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Pallor, Short stature	OMIM:615631
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hepatomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopa...	OMIM:230500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco...	ORPHA:90791
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:300842
Beta-Thalassemia Major	Delayed puberty, Hepatomegaly, Hypoparathyroidism, High-output congestive heart failure, Hypothyr...	ORPHA:231214
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:231580
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Ohdo Syndrome, Sbbys Variant	Hypothyroidism, Dilated cardiomyopathy, Cryptorchidism	OMIM:603736
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Adrenal Hypoplasia, Congenital	Delayed puberty, Adrenal hypoplasia, Precocious puberty, Absence of pubertal development, Primary...	OMIM:300200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c...	OMIM:619051
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Hyperinsulinemic hypoglycemia, Fasting hyperi...	ORPHA:71212
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hypotension, Hypertrophic cardiomyopa...	ORPHA:361
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Pure Autonomic Failure	Anhidrosis, Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension	ORPHA:441
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Dilated cardiomyopathy, Abnormal left ventricular function	OMIM:607155
Pituitary Gigantism	Premature pubarche, Increased circulating prolactin concentration, Pituitary growth hormone cell ...	ORPHA:99725
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly...	OMIM:212140
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98853
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Arrhythmia	ORPHA:35
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Adrenal gland agenesis	OMIM:611812
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiomyopathy, Dilated cardiomyopa...	ORPHA:99901
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v...	ORPHA:1457
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Concentric hypertrophic cardiomyopathy, Cardi...	ORPHA:550
Glucocorticoid Deficiency 3	Increased circulating ACTH level, Abnormal circulating renin, Decreased circulating cortisol leve...	OMIM:609197
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomyopathy, Hypothyroidism, Left ventricular hypertrophy, Cardi...	OMIM:617713
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita...	ORPHA:71526
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo...	ORPHA:98855
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma...	ORPHA:3143
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Hyperhidrosis, Arrh...	ORPHA:34217
Infantile Sialic Acid Storage Disease	Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly	OMIM:269920
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,...	ORPHA:555877
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Hepatomegaly, Elevated jugular venous pressure, Cardiomyopathy, Testicu...	ORPHA:465508
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow...	OMIM:609734
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card...	ORPHA:263297
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Increased urinary cortisol level, Hypertension, ...	ORPHA:786
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, He...	OMIM:617872
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia	OMIM:609015
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia	OMIM:266500
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ...	OMIM:201810
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Palp...	ORPHA:892
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Cardiomyopathy, Neonatal death	OMIM:618839
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Cryptorchidism	ORPHA:261250
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Pericardial effusion, Hyperaldosteronism, Dilated cardiomyopathy, Sudde...	ORPHA:73224
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency	OMIM:613743
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Dilated cardiomyopathy, Diabetes mellitus, Cryptorchidism	OMIM:616541
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Primary...	ORPHA:189427
Kearns-Sayre Syndrome	Hypoparathyroidism, Cardiomyopathy, Primary adrenal insufficiency, Arrhythmia, Diabetes mellitus,...	OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect...	OMIM:253800
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Palpitations, Atrial fibrillation, Hypothyroidism, Ar...	ORPHA:254892
Neuraminidase Deficiency	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:256550
Alstrom Syndrome	Congestive heart failure, Decreased response to growth hormone stimulation test, Hyperinsulinemia...	OMIM:203800
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Arrhythmia, Cardiomegaly, Dila...	OMIM:608836
Non-Functioning Pituitary Adenoma	Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease...	ORPHA:91349
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hematochezia, Splenomegaly, Dilated cardi...	OMIM:615895
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary...	OMIM:620642
Irida Syndrome	Pallor	ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Primary testicular failure, Atrial fi...	OMIM:115250
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increased circulating...	OMIM:177735
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia	ORPHA:96181
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism	OMIM:264350
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency	OMIM:609981
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, Hy...	ORPHA:95699
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortisol level, ...	ORPHA:90790
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,...	ORPHA:3342
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Decreased serum leptin, Hypertension, Sinus tachycardia, Right bundle br...	OMIM:614008
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Fucosidosis	Hypothyroidism, Hyperhidrosis, Cardiomegaly, Hepatomegaly	ORPHA:349
Atrial Standstill 2	Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa...	OMIM:615745
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Short stature	OMIM:609053
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C...	ORPHA:75565
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Pallor, Growth delay	OMIM:600462
Primary Myelofibrosis	Petechiae, Purpura, Ecchymosis, Pallor	ORPHA:824
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Wolman Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Adrenal insufficiency	ORPHA:75233
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy	ORPHA:70595
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Dravet Syndrome	Pallor	ORPHA:33069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Cardiomega...	OMIM:201475
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Vasculitis, Hypertension, Portal hypertension, Hashimoto thyroiditis, Hepatosplenom...	OMIM:615688
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe...	OMIM:620066
Hec Syndrome	Vaginal hydrocele, Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis	ORPHA:2119
Distal Deletion 13Q	Primary adrenal insufficiency, Abnormal cardiac septum morphology	ORPHA:1590
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hepatomegaly	OMIM:251110
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Corticosterone Methyloxidase Type Ii Deficiency	Orthostatic hypotension, Increased circulating corticosterone level, Increased circulating renin ...	OMIM:610600
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Cardiac arrest, Acute pancreatitis, Hypotension, Dilated cardiomyopathy	ORPHA:20
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Myelofibrosis	Purpura, Pallor	OMIM:254450
Vici Syndrome	Congestive heart failure, Cardiomyopathy, Abnormal thymus morphology, Left ventricular hypertroph...	OMIM:242840
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 3	Patent foramen ovale, Hepatomegaly, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy	OMIM:610505
Hypoadrenocorticism, Familial	Adrenal hypoplasia, Adrenal insufficiency	OMIM:240200
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypertension, Abnormality of circulating cortisol level, Decre...	ORPHA:320
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage	ORPHA:99931
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Cardiomegaly...	ORPHA:363705
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Pulmonary arterial hypertension, Tricuspid regurgitation, Right atrial enlargement,...	OMIM:620233
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone lev...	ORPHA:556037
Cold Agglutinin Disease	Pallor	ORPHA:56425
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Congenital Isolated Acth Deficiency	Adrenal hypoplasia, Decreased circulating cortisol level, Hypotension, Adrenocorticotropin defici...	ORPHA:199296
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	ORPHA:42
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Aortic regurgitation, Tachycardi...	ORPHA:3384
X-Linked Adrenoleukodystrophy	Increased circulating ACTH level, Abnormality of adrenal physiology, Adrenal insufficiency	ORPHA:43
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Female hypogonadism, Hypothyroidism, Primary adrenal insuffic...	OMIM:240300
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Pancre...	OMIM:602782
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Mogs-Cdg	Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyroidism, Hepatosplenomegaly, L...	ORPHA:79330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Delayed puberty, Dilated cardiomyopathy	ORPHA:89842
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy...	ORPHA:308552
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor	ORPHA:98870
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Idiopathic Hypereosinophilic Syndrome	Congestive heart failure, Pancreatitis, Myocardial eosinophilic infiltration, Supraventricular ar...	ORPHA:3260
Steinert Myotonic Dystrophy	Ovarian carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to gro...	ORPHA:273
Elliptocytosis 1	Pallor	OMIM:611804
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia...	ORPHA:980
Achalasia-Addisonianism-Alacrima Syndrome	Adrenocorticotropin receptor defect, Orthostatic hypotension, Decreased circulating cortisol leve...	OMIM:231550
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Delayed puberty, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland	OMIM:612079
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Hypohidrosis, Hyperhidrosis, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism	OMIM:614492
Beta-Thalassemia Intermedia	Hepatomegaly, Hypoparathyroidism, High-output congestive heart failure, Cholelithiasis, Pulmonary...	ORPHA:231222
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Hypertension, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal ...	ORPHA:91347
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor, Short stature	OMIM:301310
Poems Syndrome	Hepatomegaly, Abnormality of the endocrine system, Visceromegaly, Pulmonary arterial hypertension...	ORPHA:2905
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility	ORPHA:158687
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy	OMIM:619259
Hydrolethalus Syndrome 1	Stillbirth, Adrenal gland dysgenesis, Ventricular septal defect, Complete atrioventricular canal ...	OMIM:236680
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Myopathy, Mitochondrial, And Ataxia	Short stature, Pallor, Growth delay	OMIM:617675
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hepatomegaly, Hypertension, Pulmonary arteri...	OMIM:619573
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertrophic cardiomyopathy, Hepatomegaly	ORPHA:255210
Tay-Sachs Disease	Pallor	OMIM:272800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Mitral regurgitation, Mitral valve prolapse	OMIM:607459
Rheumatic Fever	Pallor, Erythema	ORPHA:3099
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:164310
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Abnormal heart morphology, Dilated cardiomyopathy, Pulmonary emb...	ORPHA:79282
American Trypanosomiasis	Pallor	ORPHA:3386
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy	ORPHA:3243
Liddle Syndrome 2	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:618126
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Adrenocortic...	OMIM:130650
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology	OMIM:300858
Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin level, Decreased c...	ORPHA:427
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Low-output congestive heart failure, Cardiomyopathy,...	ORPHA:565612
Hereditary Spherocytosis	Growth delay, Pallor, Skin ulcer	ORPHA:822
Histiocytoid Cardiomyopathy	Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Hepatomegaly, Tachycard...	ORPHA:137675
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Abnormal testis morphology, Hypertrophic cardiomyopathy, Tricuspid regu...	ORPHA:2556
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Sickle Cell Disease	Hepatomegaly, Cholelithiasis, Hypertension, Splenomegaly, Cardiomegaly	OMIM:603903
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Sheehan Syndrome	Central diabetes insipidus, Breast hypoplasia, Orthostatic hypotension, Reduced circulating prola...	ORPHA:91355
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Liddle Syndrome 1	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:177200
Cushing Disease	Increased urinary cortisol level, Hypertension, Capillary fragility, Adrenal hyperplasia, Pituita...	ORPHA:96253
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Right bundle branch block, Right ventricular hypertro...	ORPHA:268
1P36 Deletion Syndrome	Annular pancreas, Abnormal heart valve morphology, Hypothyroidism, Tetralogy of Fallot, Hypogonad...	ORPHA:1606
Cholesteryl Ester Storage Disease	Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Splenomegaly, Adrenal calcification, Adren...	OMIM:278000
Letterer-Siwe Disease	Pallor	OMIM:246400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricula...	OMIM:300967
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid...	ORPHA:99889
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ...	OMIM:607872
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Sinus tachycardia, Subarachno...	OMIM:232300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad...	ORPHA:289548
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Neonat...	ORPHA:96191
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomegaly	ORPHA:228308
Reni Syndrome	Hypothyroidism, Cryptorchidism, Hypogonadism, Adrenal insufficiency	OMIM:617575
Prolactinoma	Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy...	ORPHA:2965
Sepsis In Premature Infants	Petechiae, Purpura, Pallor	ORPHA:90051
Carney Triad	Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Hype...	ORPHA:139411
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Neonatal death, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae, Abnormal thymus morphology	ORPHA:2463
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor	ORPHA:329971
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad...	ORPHA:168558
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Waldenström Macroglobulinemia	Purpura, Pallor	ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Congenital Tracheomalacia	Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou...	ORPHA:95430
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Addison Disease	Delayed puberty, Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Adrenal...	ORPHA:85138
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Hepatomegaly, Primary hypothyroidism, Hypoplastic n...	OMIM:243800
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Acute Adrenal Insufficiency	Delayed puberty, Orthostatic hypotension, Adrenal hypoplasia, Androgen insufficiency, Hypotension...	ORPHA:95409
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Hyperhidros...	ORPHA:99827
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Tricuspid regurgitation	OMIM:620306
Neuroblastoma	Elevated circulating catecholamine level, Hypertension	ORPHA:635
Aregenerative Anemia	Pallor	ORPHA:101096
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Mirage Syndrome	Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased testicular size, Intracranial hemor...	OMIM:617053
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Adenohypophysitis	Pallor	ORPHA:95512
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98754
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ...	ORPHA:54595
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Cardiomegaly, Aortic regurgitation, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Panhypophysitis	Pallor	ORPHA:95513
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:98793
Incontinentia Pigmenti	Short stature, Pallor, Erythema	OMIM:308300
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Cardiomy...	ORPHA:699
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm...	ORPHA:177901
Prader-Willi Syndrome	Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t...	ORPHA:739
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Pituitary Apoplexy	Pallor	ORPHA:95613
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in females, Abnormal circ...	ORPHA:90794
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor, Short stature	OMIM:227645
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothyroidism, Pulmonic s...	ORPHA:488632
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Maternal diab...	OMIM:300855
Fumarase Deficiency	Pallor	OMIM:606812
Xp21 Deletion Syndrome	Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency	ORPHA:261476
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Myasthenia Gravis	Hashimoto thyroiditis, Primary adrenal insufficiency, Raynaud phenomenon, Hyperthyroidism, Abnorm...	ORPHA:589
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Delayed puberty, Dilated cardiomyopathy	ORPHA:79408
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Pallor, Spina bifida occulta, Short stature	OMIM:105650
Fucosidosis	Anhidrosis, Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Hypertrophic cardi...	OMIM:252500
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased c...	ORPHA:251510
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Abnormal pancreas morphology, Visceromegaly, Hypertr...	ORPHA:116
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor	OMIM:277400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, ...	ORPHA:365
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Vitreous hemorrhage, Pancreatitis, Patent foramen ovale, Tricuspid regurgitation, Retinal hemorrh...	OMIM:620371
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Reduced left ventricular ejection fraction, Abnor...	ORPHA:581
Autoimmune Polyendocrine Syndrome, Type Ii	Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Hyperthyroidism...	OMIM:269200
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hypothyroidism, Hepatosplenomegaly, Raynaud phenomenon, Cardiomegaly...	ORPHA:51
Abetalipoproteinemia	Hypothyroidism, Congestive heart failure, Hepatomegaly, Cardiomegaly	ORPHA:14
Doors Syndrome	Adrenal hyperplasia, Double outlet right ventricle, Congenital hypothyroidism	ORPHA:79500
Pearson Marrow-Pancreas Syndrome	Pallor, Erythema	OMIM:557000
Fanconi Anemia, Complementation Group E	Short stature, Anemic pallor	OMIM:600901
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Adrenomyeloneuropathy	Primary adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Ad...	ORPHA:139399
Fanconi Anemia, Complementation Group A	Short stature, Anemic pallor	OMIM:227650
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Bradycardia, Cardiomegaly, Abnormal cardiac septum morphology	ORPHA:97297
Choreoacanthocytosis	Dilated cardiomyopathy, Hepatomegaly, Splenomegaly	ORPHA:2388
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Hypertension, Splenomegaly, Decreased circ...	ORPHA:64
Prader-Willi Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci...	OMIM:176270
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Adrenal insufficiency	OMIM:614863
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Pancreatic hypoplasia, Abnormal circ...	OMIM:619991
Microphthalmia, Syndromic 2	Dextrocardia, Cryptorchidism, Hypothyroidism, Aortic valve stenosis, Pulmonic stenosis, Mitral va...	OMIM:300166
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hypohidrosis, Orthostatic hypotension, Adrenal insufficiency	OMIM:615510
Degcags Syndrome	Intrauterine growth retardation, Pallor	OMIM:619488
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Diamond-Blackfan Anemia	Short stature, Pallor, Growth delay	ORPHA:124
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Hepatomegaly, Congenital hydrocele, Parotitis, Hepatosplenomegaly, Splen...	OMIM:620376
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Williams Syndrome	Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid...	ORPHA:904
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor	ORPHA:667
Fanconi Anemia, Complementation Group D2	Short stature, Anemic pallor	OMIM:227646
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Congestive heart failure, Hepatom...	OMIM:256040
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Yunis-Varon Syndrome	Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Cryptorchidism, Renovascular hyper...	ORPHA:3472
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Ventricular hypertrophy, Hypertension, Transient ischemic ...	ORPHA:51608
Glycerol Kinase Deficiency	Cryptorchidism, Adrenocortical hypoplasia, Chronic pancreatitis, Adrenal insufficiency	OMIM:307030
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Decreased c...	OMIM:201750
Pallister-Hall Syndrome	Atrioventricular canal defect, Pituitary hypothyroidism, Adrenal hypoplasia, Thyroid hypoplasia, ...	ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Singleton-Merten Syndrome 1	Congestive heart failure, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcifi...	OMIM:182250
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Adrenal insufficiency, Intracranial hemorrhage, Shock	ORPHA:90062
Goodpasture Syndrome	Pallor	OMIM:233450

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 Ly6e

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 Ly6e.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
LY6E impairs coronavirus fusion and confers immune control of viral disease.	Nature microbiology (July 2020)	Ly6e^{tm1a(EUCOMM)Hmgu}	32704094

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ly6e^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ly6e^em1(IMPC)Bay	Exon Deletion	Mice
Ly6e^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ly6e^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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