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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
embryonic growth retardation	Ly6e^em1(IMPC)Bay	HET	E12.5
embryonic growth retardation	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
abnormal embryo size	Ly6e^em1(IMPC)Bay	HOM	E12.5
pallor	Ly6e^em1(IMPC)Bay	HOM	E12.5
abnormal placenta size	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 (583 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	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, 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	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
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
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect	OMIM:615981
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611615
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card...	OMIM:602390
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy	OMIM:610140
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic...	OMIM:619424
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy, Hypothyroidism	OMIM:619647
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Diabetes mellitus, Hypogonadism, Dilated cardiomyop...	ORPHA:79230
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy	OMIM:619903
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Dilated cardiomyopathy	OMIM:604286
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy	ORPHA:206546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Inter...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at...	OMIM:115197
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement	OMIM:611556
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy	OMIM:300580
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
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
8P23.1 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis	ORPHA:251076
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Dilated cardiomyopathy, Reduced systolic function	OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Myopathy, Distal, 1	Dilated cardiomyopathy, Left atrial enlargement	OMIM:160500
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Dpm3-Cdg	Dilated cardiomyopathy	ORPHA:263494
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction	ORPHA:206559
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Dilated cardiomyopathy	ORPHA:34515
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620135
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Hypothyroidism, Effo...	ORPHA:3282
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ...	ORPHA:369929
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Dilated cardiomyopathy, Reduced systolic function, Pancreatitis	OMIM:618805
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath...	OMIM:212112
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Hyperh...	ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:252011
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	OMIM:615084
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac...	ORPHA:91131
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, T...	ORPHA:401923
Isolated Atp Synthase Deficiency	Hepatomegaly, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Hypertrophic cardiomyopathy, Hypo...	ORPHA:254913
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy	OMIM:161800
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Breath-Holding Spells	Pallor	OMIM:607578
Myopathy, Centronuclear, 5	Mitral regurgitation, Dilated cardiomyopathy	OMIM:615959
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy	ORPHA:171442
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelastosis, Restrictive cardiomyo...	OMIM:619313
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Optic Atrophy 1	Pallor	OMIM:165500
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	ORPHA:352447
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy...	OMIM:601005
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy	OMIM:618120
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis	OMIM:613576
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy	ORPHA:272
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Cardiomegaly	OMIM:618838
Muscular Dystrophy, Becker Type	Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hyperhidrosis	OMIM:614299
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy	OMIM:255310
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Heart block, Splenomegaly, Dilated cardiomyopathy, Atriovent...	ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec...	OMIM:614921
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart fa...	OMIM:235200
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Alstrom Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:203800
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congestive heart f...	ORPHA:2326
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy	ORPHA:59135
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis	OMIM:619386
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Ventri...	ORPHA:263297
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion...	ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Pallor	OMIM:613561
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Muscular Dystrophy, Congenital, Megaconial Type	Dilated cardiomyopathy	OMIM:602541
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Splenomegaly, Dilate...	ORPHA:231226
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hypogonadism	OMIM:613313
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of...	ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card...	ORPHA:66634
Hemoglobin D Disease	Pallor	ORPHA:90039
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatospleno...	ORPHA:367
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopa...	OMIM:249270
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy	OMIM:300842
Adams-Oliver Syndrome 5	Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten...	OMIM:616028
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Hyperaldosteronism, Familial, Type Iii	Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Aa Amyloidosis	Hepatomegaly, Abnormal heart morphology, Adrenal insufficiency, Hypotension, Hypothyroidism, Enla...	ORPHA:85445
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Short stature, Pallor	OMIM:615631
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, High-output congestive heart failure, Spleno...	ORPHA:231214
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Dilated cardiomyopathy, Hypothyroidism	OMIM:603736
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dilated cardiomyopathy, Fasting hyperinsulinemia, Hyperinsulinemic hypogly...	ORPHA:71212
Pituitary Gigantism	Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l...	ORPHA:99725
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc...	OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Pure Autonomic Failure	Anhidrosis, Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension	ORPHA:441
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy	OMIM:607155
Melas	Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad...	ORPHA:550
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat...	OMIM:300280
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis, Ventricular septal defect	OMIM:611812
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy...	ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothy...	OMIM:617713
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Naxos Disease	Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric...	ORPHA:34217
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,...	ORPHA:465508
Infantile Sialic Acid Storage Disease	Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly	OMIM:269920
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr...	ORPHA:555877
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 34	Primary adrenal insufficiency, Hepatomegaly, Elevated circulating thyroid-stimulating hormone con...	OMIM:617872
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	OMIM:609015
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp...	ORPHA:73224
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Cardiomyopathy, Third degre...	OMIM:530000
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Decreased circulating cortisol level	OMIM:618839
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy, Diabetes mellitus, Hypothyroidism, Cryptorchidism	OMIM:616541
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Atrial fibrillation, Dilated cardiomyopathy, Reduced left ven...	ORPHA:254892
Myelofibrosis	Pallor, Purpura	OMIM:254450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:256550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Antenatal intrac...	OMIM:608836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Hematochezia, Cardi...	OMIM:615895
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Irida Syndrome	Pallor	ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ...	OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension	OMIM:264350
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy	OMIM:618321
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:609981
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Short stature, Pallor	OMIM:609053
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp...	OMIM:201475
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy	ORPHA:70595
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Growth delay, Pallor, Delayed puberty	OMIM:600462
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Dilated cardiomyopathy, Vasc...	OMIM:615688
Wolman Disease	Splenomegaly, Hepatomegaly, Adrenal insufficiency, Adrenal calcification	ORPHA:75233
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Fucosidosis	Hepatomegaly, Hypothyroidism, Cardiomegaly, Hyperhidrosis	ORPHA:349
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral ...	OMIM:614008
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Distal Deletion 13Q	Abnormal cardiac septum morphology, Primary adrenal insufficiency	ORPHA:1590
Dravet Syndrome	Pallor	ORPHA:33069
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Corticosterone Methyloxidase Type Ii Deficiency	Orthostatic hypotension, Increased circulating corticosterone level, Increased circulating 18-hyd...	OMIM:610600
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Hec Syndrome	Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Abnormal thymus morphology, Atr...	OMIM:242840
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Cardiac arrest, Dilated cardiomyopathy, Hypotension	ORPHA:20
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic cardiomyopathy	OMIM:610505
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Apparent Mineralocorticoid Excess	Hypertension, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Decreased ...	ORPHA:320
Cold Agglutinin Disease	Pallor	ORPHA:56425
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	ORPHA:42
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level	ORPHA:43
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon...	OMIM:240300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Dilated cardiomyopathy, Delayed puberty	ORPHA:89842
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Elliptocytosis 1	Pallor	OMIM:611804
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Mogs-Cdg	Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Inappropr...	ORPHA:79330
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mitral valve prolapse, Pulmonary arterial hypertension, Ri...	OMIM:620233
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor	ORPHA:98870
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Cholelithiasis, High-output congestive heart...	ORPHA:231222
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Adrenocorticotropin receptor defec...	OMIM:231550
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hypohidrosis, Hyperhidrosis, Hepatosplenomegaly	OMIM:268800
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Congenital Isolated Acth Deficiency	Hypotension, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insuffic...	ORPHA:199296
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect, Adrenal gland dysg...	OMIM:236680
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly	ORPHA:158687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Cardiomegaly	OMIM:619259
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:607459
Tay-Sachs Disease	Pallor	OMIM:272800
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmo...	ORPHA:79282
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiac conduction abnormality	ORPHA:255210
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio...	OMIM:619573
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy	ORPHA:3243
Liddle Syndrome 2	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
American Trypanosomiasis	Pallor	ORPHA:3386
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:164310
Familial Hypoaldosteronism	Orthostatic hypotension, Hypovolemia, Adrenal insufficiency, Increased circulating renin level, H...	ORPHA:427
Hereditary Spherocytosis	Growth delay, Pallor, Skin ulcer	ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Abnormal cardiomyocyte morphology...	ORPHA:565612
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper...	OMIM:130650
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Sheehan Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:91355
Liddle Syndrome 1	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertension, Cholelithiasis	OMIM:603903
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Mitral regurgitation, Abn...	ORPHA:2556
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction...	ORPHA:268
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Primary adrenal ins...	ORPHA:2905
Letterer-Siwe Disease	Pallor	OMIM:246400
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
1P36 Deletion Syndrome	Abnormal heart valve morphology, Cryptorchidism, Dilated cardiomyopathy, Telangiectasia, Abnormal...	ORPHA:1606
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Adren...	OMIM:278000
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ov...	OMIM:607872
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Sepsis In Premature Infants	Pallor, Petechiae, Purpura	ORPHA:90051
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,...	ORPHA:139411
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Reni Syndrome	Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency	OMIM:617575
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor	ORPHA:329971
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death	OMIM:608013
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp...	ORPHA:168558
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Waldenström Macroglobulinemia	Pallor, Purpura	ORPHA:33226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Primary testic...	ORPHA:85138
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Portal hypertension, Situs inversus t...	OMIM:243800
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Orthostatic hypotension, Adrenal hypoplasia, Myocardial inf...	ORPHA:95409
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Internal hemorrhage, Hepa...	ORPHA:99827
Aregenerative Anemia	Pallor	ORPHA:101096
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Adenohypophysitis	Pallor	ORPHA:95512
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc...	ORPHA:54595
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Incontinentia Pigmenti	Erythema, Short stature, Pallor	OMIM:308300
Panhypophysitis	Pallor	ORPHA:95513
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased response to g...	ORPHA:699
Mirage Syndrome	Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Intracranial hemorrhage, Adre...	OMIM:617053
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Pituitary Apoplexy	Pallor	ORPHA:95613
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor, Short stature	OMIM:227645
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry...	ORPHA:739
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Hypovo...	ORPHA:90794
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Xp21 Deletion Syndrome	Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency	ORPHA:261476
Myasthenia Gravis	Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus morphology, H...	ORPHA:589
Fucosidosis	Hepatomegaly, Anhidrosis, Splenomegaly, Cardiomegaly	OMIM:230000
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Spina bifida occulta, Short stature, Pallor	OMIM:105650
Ogden Syndrome	Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes,...	OMIM:300855
Fumarase Deficiency	Pallor	OMIM:606812
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve...	ORPHA:365
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Splenomegaly, Cr...	ORPHA:116
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m...	OMIM:252500
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry...	ORPHA:251510
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Delayed puberty	ORPHA:79408
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis...	OMIM:269200
Aicardi-Goutières Syndrome	Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopa...	ORPHA:51
Abetalipoproteinemia	Hepatomegaly, Congestive heart failure, Hypothyroidism, Cardiomegaly	ORPHA:14
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature	OMIM:600901
Doors Syndrome	Double outlet right ventricle, Adrenal hyperplasia, Congenital hypothyroidism	ORPHA:79500
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti...	ORPHA:581
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Adrenomyeloneuropathy	Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr...	ORPHA:139399
Fanconi Anemia, Complementation Group A	Anemic pallor, Short stature	OMIM:227650
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, Cholelithiasis, Annular pancreas	ORPHA:97297
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Biliary hyperplas...	OMIM:619991
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Choreoacanthocytosis	Splenomegaly, Hepatomegaly, Dilated cardiomyopathy	ORPHA:2388
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis	OMIM:615510
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Adrenal insufficiency	OMIM:614863
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Cryptorchidism, Double outlet right ventricle, Mitral va...	OMIM:300166
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Degcags Syndrome	Intrauterine growth retardation, Pallor	OMIM:619488
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff...	ORPHA:227982
Diamond-Blackfan Anemia	Growth delay, Short stature, Pallor	ORPHA:124
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor	ORPHA:667
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu...	ORPHA:227990
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Hypothyroidism,...	ORPHA:904
Fanconi Anemia, Complementation Group D2	Anemic pallor, Short stature	OMIM:227646
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Elevated circulating thyroid-...	OMIM:256040
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, Cardiomyopath...	ORPHA:3472
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard...	ORPHA:51608
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Pallister-Hall Syndrome	Decreased testicular size, Ventricular septal defect, Adrenal hypoplasia, Precocious puberty, Cry...	ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Adrenal insufficiency, Hypotension	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^em1(IMPC)Bay	Exon Deletion	Mice
Ly6e^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
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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