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

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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	Short stature, Intrauterine growth retardation	OMIM:135950
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Ethanolaminosis	Cardiomegaly	OMIM:227150
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy	OMIM:616500
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Cardiomyopathy, Dilated, 3B	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:302045
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus	OMIM:615981
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611615
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hypogonadotropic ...	OMIM:602390
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy	OMIM:610140
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Familial Isolated Dilated Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:154
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 28	Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot...	OMIM:619402
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Hypothyroidism, Cardiomyopathy	OMIM:619647
Hjv Or Hamp-Related Hemochromatosis	Hypogonadism, Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Diabetes mell...	ORPHA:79230
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy	OMIM:619903
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure	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	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:608099
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac...	OMIM:115210
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Bradycardia	OMIM:618815
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Diabetes mellitus, Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	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
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy	OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
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
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism	OMIM:262700
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Dpm3-Cdg	Dilated cardiomyopathy	ORPHA:263494
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block	ORPHA:206559
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom...	OMIM:103900
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Biventricular hypertrophy, H...	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, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Decreased testicular size, Cryptorchidism, Nonc...	OMIM:610198
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul...	ORPHA:280679
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Atrial Standstill 1	Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra...	OMIM:108770
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Dilated cardiomyopathy	ORPHA:34515
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ...	ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Prolong...	ORPHA:251274
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop...	OMIM:614676
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur...	OMIM:613426
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro...	OMIM:300845
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adr...	ORPHA:369929
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Pancreatitis, Reduced systolic function	OMIM:618805
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Hypergo...	OMIM:212112
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti...	ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr...	OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 12	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent...	OMIM:612124
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular...	OMIM:619167
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Left ventricular noncompaction, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:252011
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	OMIM:615084
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Dk1-Cdg	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int...	ORPHA:404
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronis...	ORPHA:403
Cirrhotic Cardiomyopathy	Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p...	ORPHA:57777
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Arrhythmia, Hypothyroidism, He...	ORPHA:254913
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, R...	ORPHA:401923
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure	OMIM:606703
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena...	OMIM:201910
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	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
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypoplasia of the thymus, Pericardial eff...	OMIM:619313
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	ORPHA:352447
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Congestive heart failure	OMIM:300886
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial...	OMIM:613874
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat...	OMIM:620300
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy	OMIM:618120
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis	OMIM:613576
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy	OMIM:255310
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level	OMIM:618838
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Splenomegaly, Abnormal...	ORPHA:398124
Muscular Dystrophy, Becker Type	Arrhythmia, Cardiomyopathy, Abnormal EKG	OMIM:300376
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Dilated cardiomyopathy, Hyperhidrosis, Hypertrophic cardiomyopathy	OMIM:614299
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy	ORPHA:272
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, De...	OMIM:614921
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadi...	OMIM:235200
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Bilateral cryptorchidism,...	ORPHA:2326
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension...	OMIM:615830
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:202110
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy	ORPHA:59135
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio...	OMIM:605373
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec...	OMIM:618652
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach...	OMIM:300952
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis	OMIM:619386
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab...	ORPHA:37553
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Optic Atrophy 1	Pallor	OMIM:165500
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio...	ORPHA:99104
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ...	ORPHA:26793
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Pallor	OMIM:613561
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Hypopituitarism, Adrenal insufficiency, Hepatosplenomegaly, Splenomegaly,...	ORPHA:231226
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Hemochromatosis, Type 2B	Cardiomyopathy, Congestive heart failure, Hypogonadism, Splenomegaly, Hepatomegaly	OMIM:613313
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Muscular Dystrophy, Congenital, Megaconial Type	Dilated cardiomyopathy	OMIM:602541
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular septal defect, Hypothyroid...	ORPHA:66634
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect, Arrhythmia, At...	OMIM:249270
Aa Amyloidosis	Hypotension, Abnormal heart morphology, Adrenal insufficiency, Hypothyroidism, Hepatomegaly, Enla...	ORPHA:85445
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Hemoglobin D Disease	Pallor	ORPHA:90039
Adams-Oliver Syndrome 5	Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri...	OMIM:616028
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Abnormal cardiomyocyte morp...	ORPHA:367
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Anemia, Congenital Dyserythropoietic, Type Ib	Short stature, Growth delay, Pallor	OMIM:615631
Cardiomyopathy, Familial Hypertrophic, 2	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper...	OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:613243
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart valve morphology, Hypertrophic c...	OMIM:230500
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Hepatomegaly, Atrial fibrillation	OMIM:300842
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con...	ORPHA:90791
Beta-Thalassemia Major	Dilated cardiomyopathy, Hypopituitarism, Adrenal insufficiency, Hepatosplenomegaly, Splenomegaly,...	ORPHA:231214
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Hypertension, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Gl...	ORPHA:231580
Ohdo Syndrome, Sbbys Variant	Hypothyroidism, Cryptorchidism, Dilated cardiomyopathy	OMIM:603736
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf...	OMIM:300200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy	OMIM:607155
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Fasting hyperinsulinemia, Hypertrophic cardiomyopathy, Hyperinsulinemic h...	ORPHA:71212
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Pituitary Gigantism	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth...	ORPHA:99725
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi...	OMIM:300280
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r...	ORPHA:98853
Propionic Acidemia	Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:35
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Ventricular septal defect	OMIM:611812
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Melas	Type I diabetes mellitus, Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiom...	ORPHA:550
Glucocorticoid Deficiency 3	Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l...	OMIM:609197
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Cardiac...	OMIM:617713
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Supraventricular arrhy...	ORPHA:98855
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy	OMIM:605676
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Hyperhi...	ORPHA:34217
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus...	ORPHA:555877
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure	OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary...	ORPHA:3143
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Portal hype...	ORPHA:465508
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71526
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho...	OMIM:609734
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased...	OMIM:202010
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep...	ORPHA:263297
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone con...	OMIM:617872
Pure Autonomic Failure	Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension, Anhidrosis	ORPHA:441
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Mitochondrial Trifunctional Protein Deficiency 1	Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:609015
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Refsum Disease, Classic	Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Cardiomyopathy, Neonatal death	OMIM:618839
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Cryptorchidism, Ventricular septal defect	ORPHA:261250
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Diabetes mellitus, Cryptorchidism, Dilated cardiomyopathy	OMIM:616541
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hyperaldosteronism, Pericardial effusion, Sudde...	ORPHA:73224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno...	OMIM:253800
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Primary adrenal insufficiency, Arrhythmia, H...	OMIM:530000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Goiter, Reduced left ventricular ejection fraction, Palpitations, Left ve...	ORPHA:254892
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
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	Dilated cardiomyopathy, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorrhag...	OMIM:608836
Alstrom Syndrome	Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Decreased ...	OMIM:203800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hep...	OMIM:615895
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Irida Syndrome	Pallor	ORPHA:209981
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
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	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right...	ORPHA:3427
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, I...	OMIM:177735
Immunodeficiency 54	Adrenocorticotropic hormone excess, Hepatomegaly, Adrenal insufficiency, Splenomegaly	OMIM:609981
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level	ORPHA:96181
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperaldosteronism, Hypotension, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism	OMIM:264350
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Neoplasm of the pancreas,...	ORPHA:892
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Adrenal hyperplasia, Cryptorchidism, Polycystic o...	ORPHA:95699
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Hypertension, Left atrial enlargement, Pulmonary arteria...	OMIM:614008
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Decre...	ORPHA:90790
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Fucosidosis	Hepatomegaly, Hypothyroidism, Hyperhidrosis, Cardiomegaly	ORPHA:349
Fanconi Anemia, Complementation Group I	Short stature, Intrauterine growth retardation, Pallor	OMIM:609053
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Pallor, Growth delay	OMIM:600462
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Primary Myelofibrosis	Purpura, Petechiae, Pallor, Ecchymosis	ORPHA:824
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy	ORPHA:70595
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Wolman Disease	Adrenal calcification, Hepatomegaly, Adrenal insufficiency, Splenomegaly	ORPHA:75233
Dravet Syndrome	Pallor	ORPHA:33069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega...	OMIM:201475
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Hepatosplenomegaly, Portal hyperten...	OMIM:615688
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Hec Syndrome	Arrhythmia, Endocardial fibroelastosis, Vaginal hydrocele, Cardiomyopathy	ORPHA:2119
Distal Deletion 13Q	Primary adrenal insufficiency, Abnormal cardiac septum morphology	ORPHA:1590
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Dilated cardiomyopathy	OMIM:251110
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Hepatomegaly, Cardiac arrest, Acute pancreatitis	ORPHA:20
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Myelofibrosis	Purpura, Pallor	OMIM:254450
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, A...	OMIM:242840
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level, Decr...	OMIM:610600
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy	OMIM:610505
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur	ORPHA:99931
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Right atrial enlargement, Atrial septal defect	OMIM:615219
Apparent Mineralocorticoid Excess	Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati...	ORPHA:320
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Hepatomegaly, Ri...	OMIM:620233
Cold Agglutinin Disease	Pallor	ORPHA:56425
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hypotension, Adrenocorticotropin deficient adrenal insuffic...	ORPHA:199296
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	ORPHA:42
Late-Onset Familial Hypoaldosteronism	Hypotension, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostati...	ORPHA:556037
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:616897
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level	ORPHA:43
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Type I diabetes mellitus, Cholelithiasis, Adrenal insufficiency, Primary adren...	OMIM:240300
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Dilated cardiomyopathy, Delayed puberty	ORPHA:89842
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Mogs-Cdg	Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Atrial septal def...	ORPHA:79330
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventricular hypertrophy, L...	ORPHA:308552
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function	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	Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Hepatosplenomegaly, Transie...	ORPHA:3260
Steinert Myotonic Dystrophy	Atrial fibrillation, Male hypogonadism, Dilated cardiomyopathy, Prolonged PR interval, Cholelithi...	ORPHA:273
Elliptocytosis 1	Pallor	OMIM:611804
Triple A Syndrome	Adrenal insufficiency, Anterior hypopituitarism	ORPHA:869
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced...	ORPHA:980
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Achalasia-Addisonianism-Alacrima Syndrome	Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le...	OMIM:231550
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty	OMIM:612079
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
Sandhoff Disease	Hepatosplenomegaly, Cardiomegaly, Hypohidrosis, Orthostatic hypotension, Hyperhidrosis, Hepatomegaly	OMIM:268800
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Short stature, Intrauterine growth retardation, Pallor	OMIM:301310
Beta-Thalassemia Intermedia	Cholelithiasis, Hypogonadism, Adrenal insufficiency, Hepatosplenomegaly, Splenomegaly, High-outpu...	ORPHA:231222
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy	ORPHA:158687
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Poems Syndrome	Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Pericardial effusion,...	ORPHA:2905
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Congestive heart failure	OMIM:619259
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Stillbirth, Complete atrioventricular canal defect, Ventricular septal ...	OMIM:236680
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Pallor	OMIM:617675
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent...	OMIM:619573
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertrophic cardiomyopathy	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	Erythema, Pallor	ORPHA:3099
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Oculopharyngodistal Myopathy 1	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Dilated cardiomyopathy	OMIM:164310
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
American Trypanosomiasis	Pallor	ORPHA:3386
Sweet Syndrome	Dilated cardiomyopathy, Small vessel vasculitis	ORPHA:3243
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical...	OMIM:130650
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology	OMIM:300858
Liddle Syndrome 2	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:618126
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Familial Hypoaldosteronism	Hypotension, Adrenal insufficiency, Increased circulating renin level, Decreased circulating aldo...	ORPHA:427
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Spleno...	ORPHA:565612
Hereditary Spherocytosis	Growth delay, Skin ulcer, Pallor	ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio...	ORPHA:2556
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy	OMIM:105210
Sickle Cell Disease	Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Hypertension	OMIM:603903
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Sheehan Syndrome	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:91355
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Liddle Syndrome 1	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:177200
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Right bundle branch block...	ORPHA:268
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Hypogonadism, Abnormal heart valve morphology, Tetralog...	ORPHA:1606
Letterer-Siwe Disease	Pallor	OMIM:246400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Cholesteryl Ester Storage Disease	Adrenal calcification, Adrenal insufficiency, Hepatosplenomegaly, Portal hypertension, Splenomega...	OMIM:278000
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Adre...	ORPHA:99889
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Tetralogy of Fallot, Congenital hypothyroidism, Cryptorchidism, Patent fo...	OMIM:607872
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Ri...	OMIM:232300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block	ORPHA:228308
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Cryptorchidism, Ventricular sep...	ORPHA:96191
Reni Syndrome	Hypogonadism, Adrenal insufficiency, Hypothyroidism, Cryptorchidism	OMIM:617575
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Hypotension, Abnormality of the Leydig cells, Adr...	ORPHA:289548
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Prolactinoma	Secondary growth hormone deficiency, Male hypogonadism, Hypotension, Adrenocorticotropin deficien...	ORPHA:2965
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Hepatomegaly	OMIM:608013
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Growth delay	ORPHA:329971
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Hypotension, Abnormality of the Leydig cells, Abs...	ORPHA:168558
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	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Exocrine pancreatic insufficiency, Situs inversus totalis, Splenomegaly, ...	OMIM:243800
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Addison Disease	Thymoma, Type I diabetes mellitus, Hypotension, Androgen insufficiency, Adrenal calcification, In...	ORPHA:85138
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ...	ORPHA:99827
Acute Adrenal Insufficiency	Hypotension, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficie...	ORPHA:95409
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Tricuspid regurgitation	OMIM:620306
Aregenerative Anemia	Pallor	ORPHA:101096
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98754
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Adenohypophysitis	Pallor	ORPHA:95512
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Mirage Syndrome	Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Adrenal hypoplasia, Intracrania...	OMIM:617053
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins...	ORPHA:54595
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98793
Panhypophysitis	Pallor	ORPHA:95513
Incontinentia Pigmenti	Short stature, Erythema, Pallor	OMIM:308300
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177901
Pearson Syndrome	Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnormal heart morphology,...	ORPHA:699
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop...	ORPHA:739
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Pituitary Apoplexy	Pallor	ORPHA:95613
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Fanconi Anemia, Complementation Group C	Short stature, Intrauterine growth retardation, Anemic pallor	OMIM:227645
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Cryptorchid...	ORPHA:488632
Ogden Syndrome	Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Decreased testi...	OMIM:300855
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Abnormal circulating dehydroepiandrosterone concentration, Increased circul...	ORPHA:90794
Fumarase Deficiency	Pallor	OMIM:606812
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Xp21 Deletion Syndrome	Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency	ORPHA:261476
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Delayed puberty	ORPHA:79408
Myasthenia Gravis	Primary adrenal insufficiency, Hashimoto thyroiditis, Raynaud phenomenon, Hyperthyroidism, Abnorm...	ORPHA:589
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Diamond-Blackfan Anemia 1	Short stature, Spina bifida occulta, Intrauterine growth retardation, Pallor	OMIM:105650
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Anhidrosis	OMIM:230000
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Mitral...	OMIM:252500
46,Xy Partial Gonadal Dysgenesis	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma...	ORPHA:251510
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor	OMIM:277400
Beckwith-Wiedemann Syndrome	Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine pancreatic ins...	ORPHA:116
Neuroblastoma	Elevated circulating catecholamine level, Hypertension	ORPHA:635
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Cardio...	ORPHA:365
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Cryptorchidism, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage,...	OMIM:620371
Mucopolysaccharidosis Type 3	Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal aortic...	ORPHA:581
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli...	OMIM:269200
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Hypothyroidism, Raynaud phenomenon...	ORPHA:51
Abetalipoproteinemia	Hepatomegaly, Hypothyroidism, Cardiomegaly, Congestive heart failure	ORPHA:14
Doors Syndrome	Congenital hypothyroidism, Double outlet right ventricle, Adrenal hyperplasia	ORPHA:79500
Fanconi Anemia, Complementation Group E	Short stature, Anemic pallor	OMIM:600901
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Adrenomyeloneuropathy	Adrenocorticotropic hormone excess, Adrenocortical abnormality, Adrenal insufficiency, Primary ad...	ORPHA:139399
Fanconi Anemia, Complementation Group A	Short stature, Anemic pallor	OMIM:227650
Choreoacanthocytosis	Hepatomegaly, Dilated cardiomyopathy, Splenomegaly	ORPHA:2388
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia	ORPHA:97297
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly...	ORPHA:64
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Adrenal insufficiency	OMIM:614863
Liver Disease, Severe Congenital	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Dilatation of the ventricular cavity, S...	OMIM:619991
Prader-Willi Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre...	OMIM:176270
Microphthalmia, Syndromic 2	Aortic valve stenosis, Adrenal insufficiency, Cryptorchidism, Mitral valve prolapse, Ventricular ...	OMIM:300166
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Hypohidrosis, Orthostatic hypotension	OMIM:615510
Degcags Syndrome	Intrauterine growth retardation, Pallor	OMIM:619488
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Diamond-Blackfan Anemia	Short stature, Growth delay, Pallor	ORPHA:124
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Autoinflammatory Disease, Systemic, With Vasculitis	Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Congenital hydrocele, Sm...	OMIM:620376
Williams Syndrome	Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect...	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, Parotit...	OMIM:256040
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pul...	ORPHA:3472
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Adrenal calcification, Left ventricular systolic dysfunction, Transient ...	ORPHA:51608
Glycerol Kinase Deficiency	Adrenal insufficiency, Chronic pancreatitis, Cryptorchidism, Adrenocortical hypoplasia	OMIM:307030
Pallister-Hall Syndrome	Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Atr...	ORPHA:672
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros...	OMIM:201750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral...	OMIM:182250
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Shock, Adrenal insufficiency, Intracranial hemorrhage	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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