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Gene: Ly6e MGI:106651

Gene Summary

Name:

lymphocyte antigen 6 complex, locus 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
abnormal embryo 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
preweaning lethality, complete penetrance	Ly6e^em1(IMPC)Bay	HOM	Early adult
pale yolk sac	Ly6e^em1(IMPC)Bay	HOM	E12.5
abnormal placenta size	Ly6e^em1(IMPC)Bay	HOM	E12.5
embryonic growth retardation	Ly6e^em1(IMPC)Bay	HOM	E12.5
prenatal lethality	Ly6e^em1(IMPC)Bay	HOM	E18.5

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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 (578 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	Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f...	OMIM:607482
Cardiomyopathy, Dilated, 2A	Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e...	OMIM:611880
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth...	OMIM:613424
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red...	OMIM:604765
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Cardiomyopathy, Dilated, 1Ee	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613252
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:613286
Cardiomyopathy, Dilated, 1Dd	Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca...	OMIM:613172
Cardiomyopathy, Dilated, 1L	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre...	OMIM:606685
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath...	OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di...	OMIM:612158
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy	OMIM:609909
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi...	OMIM:605362
Cardiomyopathy, Dilated, 1Z	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy	OMIM:611879
Ethanolaminosis	Cardiomegaly	OMIM:227150
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure	ORPHA:217622
Cardiomyopathy, Dilated, 1U	Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat...	OMIM:613694
Left Ventricular Noncompaction 10	Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ...	OMIM:615396
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ...	OMIM:613642
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Dilated cardiomyopathy, Increased left ventricular end-diastolic vo...	OMIM:615248
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve...	OMIM:615373
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card...	OMIM:600884
Cardiomyopathy, Dilated, 3B	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	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	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Heart-Hand Syndrome, Slovenian Type	Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod...	ORPHA:168796
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Cardiomyopathy, Dilated, 1Bb	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:612877
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Dilated, 2G	Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray...	OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Bardet-Biedl Syndrome 2	Hypogonadism, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Diabetes mellitus	OMIM:615981
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611615
Cardiomyopathy, Dilated, 2D	Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef...	OMIM:619371
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea...	OMIM:613697
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy	ORPHA:2229
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car...	OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 15	Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent...	OMIM:613255
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Hypogonadotropic hypo...	OMIM:602390
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro...	OMIM:601419
Cardiomyopathy, Dilated, 1G	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre...	OMIM:604145
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy	OMIM:610140
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, 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	Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst...	OMIM:604772
Cardiomyopathy, Dilated, 2F	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:619747
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Myofiber disarray, Restrictive cardiomyopathy, Cardiogenic shock, Dilated cardiomyopathy, Myocard...	OMIM:619424
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D...	OMIM:601494
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy	ORPHA:154
Hemochromatosis Type 2	Diabetes mellitus, Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Hypogona...	ORPHA:79230
Cardiomyopathy, Familial Hypertrophic, 28	Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct...	OMIM:619402
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Cardiomyopathy, Dilated, 1E	Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti...	OMIM:601154
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy	OMIM:619903
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s...	OMIM:612422
Paragangliomas 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Cardiomyopathy, Dilated, 1Nn	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc...	OMIM:615916
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Hypothyroidism, Cardiomyopathy	OMIM:619647
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Dilated cardiomyopathy	OMIM:604286
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar...	OMIM:115210
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:206546
Peripartum Cardiomyopathy	Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j...	ORPHA:563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy	OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 27	Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc...	OMIM:618052
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, Interstitial cardiac fibrosis, Reduced left ventricular ejection fraction, ...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu...	OMIM:115197
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy, Cryptorchidism	OMIM:618815
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy	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
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Reduced systolic function, Dilated cardiomyopathy	OMIM:616827
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype...	OMIM:613690
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 26	Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi...	OMIM:617047
Myopathy, Distal, 1	Left atrial enlargement, Dilated cardiomyopathy	OMIM:160500
Dpm3-Cdg	Dilated cardiomyopathy	ORPHA:263494
Isolated Right Ventricular Hypoplasia	Patent foramen ovale, Systolic heart murmur, Right bundle branch block, Bidirectional shunt, Abno...	ORPHA:439
Pituitary Hormone Deficiency, Combined, 4	Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
8P23.1 Duplication Syndrome	Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:251076
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Left ventricular systolic dysfunction, Dilated cardiomyopathy	ORPHA:206559
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr...	ORPHA:300751
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Mitral regurgitation, Dilated cardiomyopathy	OMIM:212112
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre...	OMIM:103900
Left Ventricular Noncompaction 1	Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr...	OMIM:604169
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he...	OMIM:616117
Cardiomyopathy, Dilated, 1Y	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas...	OMIM:611878
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial...	ORPHA:251274
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy	OMIM:619492
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Cryp...	OMIM:620135
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Decreased testicular size, Dilated cardiomyopathy, Congestive heart failure...	OMIM:610198
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Dilated cardiomyopathy	ORPHA:34515
Combined Oxidative Phosphorylation Deficiency 8	Reduced left ventricular ejection fraction, Congestive heart failure, Hypertrophic cardiomyopathy...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Ischemic stroke, Cerebral hemorrhage, Decr...	ORPHA:280679
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu...	OMIM:611705
Pituitary Adenoma 1, Multiple Types	Increased circulating prolactin concentration, Left ventricular hypertrophy, Hypertension, Pituit...	OMIM:102200
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press...	OMIM:255160
Muscular Dystrophy, Congenital, Megaconial Type	Dilated cardiomyopathy	OMIM:602541
Atrial Standstill 1	Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy...	OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 21	Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat...	OMIM:614676
Arterial Calcification, Generalized, Of Infancy, 2	Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear...	OMIM:614473
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal ...	ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 33	Hypothyroidism, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy	OMIM:617713
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef...	OMIM:613426
Cardiomyopathy, Familial Hypertrophic, 8	Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w...	OMIM:608751
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Familial Isolated Restrictive Cardiomyopathy	Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,...	ORPHA:75249
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Congenital Gerbode Defect	Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa...	ORPHA:99095
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Decreased testicular ...	OMIM:300845
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej...	OMIM:300257
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Pancreatitis, Dilated cardiomyopathy, Hepatomegaly	OMIM:618805
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Hyperhidrosi...	ORPHA:860
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:252011
Familial Hyperaldosteronism Type Ii	Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypertension, Adr...	ORPHA:404
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc...	OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 12	Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop...	OMIM:612124
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph...	OMIM:601214
Timothy Syndrome	Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Prolonged QT interval, Cardiomeg...	OMIM:601005
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Autoimmune Polyendocrinopathy Type 1	Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi...	ORPHA:3453
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Arrhythmia	OMIM:615084
Fixed Subaortic Stenosis	Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,...	ORPHA:3092
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Type II diabetes mellitus, Dilated cardiomyopathy, Aortic regurgitation, R...	ORPHA:401923
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy	ORPHA:1349
Attrv122I Amyloidosis	Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri...	ORPHA:85451
Coronary Arterial Fistula	Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Bacterial endocardi...	ORPHA:2041
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Adrenal hyperplasia, Epistaxis, Secretory adrenocortical a...	ORPHA:403
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy	OMIM:161800
Breath-Holding Spells	Pallor	OMIM:607578
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly, Atrioventricular block, Arrhythmia	ORPHA:85447
Dk1-Cdg	Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy...	ORPHA:91131
Myopathy, Centronuclear, 5	Mitral regurgitation, Dilated cardiomyopathy	OMIM:615959
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re...	ORPHA:57777
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure	OMIM:606703
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy	ORPHA:171442
Ventricular Tachycardia, Familial	Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy	OMIM:192605
Autoimmune Hemolytic Anemia, Cold Type	Pallor	ORPHA:228312
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial...	OMIM:613874
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Loeffler Endocarditis	Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-...	ORPHA:75566
Congenital Tricuspid Valve Dysplasia	Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp...	ORPHA:555874
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Dermatitis, Atopic	Facial erythema, Dry skin, Pallor	OMIM:603165
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Congestive heart failure	OMIM:300886
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Hypoplasia of the thymus, Pericardial effusion, Right atrial enlargem...	OMIM:619313
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Optic Atrophy 1	Pallor	OMIM:165500
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Cardiomyopathy, Familial Hypertrophic, 16	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper...	OMIM:613838
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Arrhythmia	ORPHA:352447
Paragangliomas 3	Glomus jugular tumor, Hyperhidrosis, Hypertension associated with pheochromocytoma, Elevated circ...	OMIM:605373
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:201910
Polymyositis	Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Congestive heart failure,...	ORPHA:732
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis	OMIM:613576
Incessant Infant Ventricular Tachycardia	Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W...	ORPHA:45453
Paragangliomas 1	Hyperhidrosis, Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circ...	OMIM:168000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy	OMIM:618120
Muscular Dystrophy, Becker Type	Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Pituitary Hormone Deficiency, Combined, 2	Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A...	OMIM:262600
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level	OMIM:618838
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:219080
Congenital Muscular Dystrophy, Fukuyama Type	Dilated cardiomyopathy	ORPHA:272
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Cardiomyopathy	ORPHA:1909
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatomegaly, Hyperhidrosis	OMIM:614299
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy	OMIM:255310
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon...	ORPHA:398124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy	OMIM:145350
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,...	OMIM:608758
Hemochromatosis, Type 1	Telangiectasia, Congestive heart failure, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Ar...	OMIM:235200
Alstrom Syndrome	Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul...	OMIM:203800
Kallmann Syndrome-Heart Disease Syndrome	Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Decreased testicular size, ...	ORPHA:2326
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:615954
Congenital Disorder Of Glycosylation, Type It	Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom...	OMIM:614921
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:202110
Familial Atrial Myxoma	Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my...	ORPHA:615
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Ventricular tachycardia, Syncope, Dilated cardiomyopathy	OMIM:615821
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Primary hypercortisolism...	OMIM:615830
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:231530
Familial Idiopathic Dilatation Of The Right Atrium	Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal...	ORPHA:1677
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Thy...	OMIM:300952
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Hypertrophic cardiomyopathy, Pancreatitis	OMIM:619386
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Laing Early-Onset Distal Myopathy	Dilated cardiomyopathy	ORPHA:59135
Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level...	ORPHA:189439
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven...	ORPHA:37553
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris...	OMIM:612098
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Hypothyroidism, Right bundle branch block, T-wave inversion, Ventricular...	ORPHA:263297
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At...	ORPHA:26793
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Atrial Septal Defect, Ostium Primum Type	Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,...	ORPHA:99106
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,...	OMIM:617222
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Complete Atrioventricular Septal Defect	Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Hype...	ORPHA:1329
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ...	OMIM:618652
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem...	ORPHA:99104
Atrial Standstill	Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric...	ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Hemochromatosis, Type 2B	Hypogonadism, Congestive heart failure, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:613313
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Pallor	OMIM:613561
Barth Syndrome	Endocardial fibroelastosis, Congestive heart failure, Increased left ventricular end-diastolic vo...	OMIM:302060
Dominant Beta-Thalassemia	Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Dilated cardiomyopathy, Hepatosplenomegal...	ORPHA:231226
Dilated Cardiomyopathy With Ataxia	Hypothyroidism, Bilateral cryptorchidism, Dilated cardiomyopathy, Prolonged QT interval, Muscular...	ORPHA:66634
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy	OMIM:310200
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly	OMIM:208000
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy	OMIM:611126
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ...	OMIM:613873
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Atrial septal defect, Diabetes mellitus, Situs inversus totalis, Crypt...	OMIM:249270
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Abnormal cardiomyocyte morp...	ORPHA:367
Gm1-Gangliosidosis, Type I	Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepa...	OMIM:230500
Hemoglobin D Disease	Pallor	ORPHA:90039
Chromosome 1P36 Deletion Syndrome, Proximal	Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Wolff-Parkinson-White s...	OMIM:619343
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Aa Amyloidosis	Hypotension, Hypothyroidism, Adrenal insufficiency, Enlarged kidney, Abnormal heart morphology, H...	ORPHA:85445
Cardiomyopathy, Familial Hypertrophic, 2	Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul...	OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 13	Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca...	OMIM:613243
Atrial Septal Defect, Ostium Secundum Type	Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati...	ORPHA:99103
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph...	OMIM:616028
Beta-Thalassemia Major	Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Dilated cardiomyopathy, Hepatosplenomegal...	ORPHA:231214
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Short stature, Pallor	OMIM:615631
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hyperaldosteronism, Hypertension, Adrenal hyperplasia	OMIM:613677
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Ohdo Syndrome, Sbbys Variant	Hypothyroidism, Dilated cardiomyopathy, Cryptorchidism	OMIM:603736
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate...	ORPHA:90791
Cardiomyopathy, Familial Hypertrophic, 6	Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ...	OMIM:600858
Mcleod Syndrome	Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Atrial fibrillation, Cardiomyopathy	OMIM:300842
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte...	ORPHA:231580
Pituitary Gigantism	Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Left ven...	ORPHA:99725
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Prolonged QT ...	ORPHA:71212
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Adrenal Hypoplasia, Congenital	Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir...	OMIM:300200
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Pure Autonomic Failure	Orthostatic hypotension, Anhidrosis, Syncope, Abnormality of circulating catecholamine level	ORPHA:441
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega...	OMIM:619051
Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo...	ORPHA:98853
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Adrenal gland agenesis	OMIM:611812
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy	OMIM:607155
Carnitine Deficiency, Systemic Primary	Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgi...	OMIM:212140
Melas	Pulmonary arterial hypertension, Hypothyroidism, Recurrent pancreatitis, Concentric hypertrophic ...	ORPHA:550
Familial Glucocorticoid Deficiency	Hypotension, Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, ...	ORPHA:361
Propionic Acidemia	Cardiomyopathy, Hepatomegaly, Arrhythmia	ORPHA:35
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, Hy...	ORPHA:99901
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Elevated jugular venous pressure, Congestive heart failure, Decreased serum testo...	ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia	OMIM:614702
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Ventricular escape rhy...	ORPHA:98855
Autoimmune Polyendocrinopathy Type 2	Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ...	ORPHA:3143
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,...	ORPHA:71526
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Naxos Disease	Sudden cardiac death, Hyperhidrosis, Paroxysmal ventricular tachycardia, Congestive heart failure...	ORPHA:34217
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly	OMIM:619064
Infantile Sialic Acid Storage Disease	Cardiomegaly, Splenomegaly, Congestive heart failure, Hepatomegaly	OMIM:269920
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev...	OMIM:202010
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici...	OMIM:609734
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr...	ORPHA:555877
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hypertension	OMIM:145260
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level...	ORPHA:786
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive hea...	ORPHA:324410
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Mulibrey Nanism	Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly	OMIM:253250
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly, Congestive heart failure, Arrhythmia	OMIM:266500
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:609015
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre...	ORPHA:189427
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Hyperaldosteronism, Pericardial effusion, Dilated cardiomyopathy, Congestiv...	ORPHA:73224
Leigh Syndrome With Cardiomyopathy	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitati...	ORPHA:70474
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Cryptorchidism	ORPHA:261250
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252920
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Non-Functioning Pituitary Adenoma	Hypotension, Adrenal insufficiency, Anterior hypopituitarism, Increased circulating gonadotropin ...	ORPHA:91349
Aorta Coarctation	Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ...	ORPHA:1457
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess	OMIM:613743
Kearns-Sayre Syndrome	Third degree atrioventricular block, Primary adrenal insufficiency, Diabetes mellitus, Hypoparath...	OMIM:530000
Autosomal Dominant Progressive External Ophthalmoplegia	Hypothyroidism, Hyperthyroidism, Reduced left ventricular ejection fraction, Ventricular arrhythm...	ORPHA:254892
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Diabetes mellitus, Dilated cardiomyopathy, Cryptorchidism	OMIM:616541
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Neonatal death, Cardiomyopathy	OMIM:618839
Neuraminidase Deficiency	Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy	OMIM:256550
Von Hippel-Lindau Disease	Pancreatic cysts, Hyperhidrosis, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Elevated c...	ORPHA:892
Myelofibrosis	Purpura, Pallor	OMIM:254450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Enlarged kidney, Dilated cardiomyopathy, Hepatomegaly, Arrhyt...	OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, Transposition of the great art...	OMIM:253800
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Hematochezia, Splenomegaly, Cardi...	OMIM:615895
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Pericardial effusion, T-wave inversion, Enlarged kidney, ST segment depression, Cong...	OMIM:261740
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
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Increased circulating renin level, Hype...	OMIM:177735
Congenital Disorder Of Glycosylation, Type Im	Bradycardia, Dilated cardiomyopathy	OMIM:610768
Distal Monosomy 13Q	Primary adrenal insufficiency, Abnormal cardiac septum morphology	ORPHA:1590
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism	OMIM:264350
Combined Oxidative Phosphorylation Deficiency 34	Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:617872
Irida Syndrome	Pallor	ORPHA:209981
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal h...	ORPHA:90790
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
Atrial Standstill 2	Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr...	OMIM:615745
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Primary testicular fai...	OMIM:115250
Arterial Tortuosity Syndrome	Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Myocardial infarc...	ORPHA:3342
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Maternal Uniparental Disomy Of Chromosome 6	Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia	ORPHA:96181
Beta-Thalassemia	Skin ulcer, Pallor	ORPHA:848
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly	OMIM:609981
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Short stature, Pallor	OMIM:609053
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy	ORPHA:70595
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Raynaud phenomenon, Dilated cardiomyopathy, Hypertension, Hepatosplenomegaly, Type I diabetes mel...	OMIM:615688
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona...	ORPHA:75565
Leishmaniasis	Skin ulcer, Pallor	ORPHA:507
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso...	ORPHA:95699
Amyloidosis, Hereditary, Transthyretin-Related	Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy	OMIM:105210
Wolman Disease	Adrenal insufficiency, Adrenal calcification, Splenomegaly, Hepatomegaly	ORPHA:75233
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Sudden cardiac death, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, He...	OMIM:201475
Fucosidosis	Cardiomegaly, Hypothyroidism, Hepatomegaly, Hyperhidrosis	ORPHA:349
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Glycerol Kinase Deficiency	Adrenal insufficiency, Adrenocortical hypoplasia, Cryptorchidism	OMIM:307030
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Growth delay, Pallor	OMIM:600462
Nestor-Guillermo Progeria Syndrome	Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Decr...	OMIM:614008
Hec Syndrome	Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum...	OMIM:620066
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr...	ORPHA:216694
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Increased circulating renin level, Increased circulating...	OMIM:610600
Vici Syndrome	Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Atrial septal def...	OMIM:242840
Cantu Syndrome	Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve	OMIM:239850
Primary Myelofibrosis	Ecchymosis, Purpura, Petechiae, Pallor	ORPHA:824
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Cardiac arrest, Dilated cardiomyopathy, Acute pancreatitis, Hepatomegaly	ORPHA:20
Dravet Syndrome	Pallor	ORPHA:33069
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Chronic Thromboembolic Pulmonary Hypertension	Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ...	ORPHA:70591
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Persistent fetal circulation, Ventricular septal defect, Pericar...	ORPHA:363705
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy	OMIM:613989
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Combined Oxidative Phosphorylation Deficiency 3	Patent foramen ovale, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hepatomegaly	OMIM:610505
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre...	ORPHA:3384
Cold Agglutinin Disease	Pallor	ORPHA:56425
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir...	ORPHA:320
Primary Lipodystrophy	Type II diabetes mellitus, Pancreatitis, Hypertension, Congestive heart failure, Angina pectoris,...	ORPHA:90970
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Histiocytosis-Lymphadenopathy Plus Syndrome	Pulmonary arterial hypertension, Pancreatic hypoplasia, Splenomegaly, Facial telangiectasia, Vent...	OMIM:602782
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism, Hypertension	OMIM:614495
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Adrenal insufficien...	OMIM:240300
Mogs-Cdg	Hypothyroidism, Left ventricular hypertrophy, Hydrocele testis, Atrial septal defect, Hepatosplen...	ORPHA:79330
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	ORPHA:42
Autoimmune Hemolytic Anemia	Pallor	ORPHA:98375
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Hypertrop...	ORPHA:308552
X-Linked Adrenoleukodystrophy	Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating ACTH level	ORPHA:43
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect	OMIM:616897
Steinert Myotonic Dystrophy	Supraventricular tachycardia, Hyperinsulinemia, Decreased response to growth hormone stimulation ...	ORPHA:273
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function	ORPHA:229
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Elliptocytosis 1	Pallor	OMIM:611804
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Cardiomegaly, Hypertension	OMIM:613320
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,...	OMIM:306955
Idiopathic Hypereosinophilic Syndrome	Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, P...	ORPHA:3260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Delayed puberty, Dilated cardiomyopathy	ORPHA:89842
Deafness-Lymphedema-Leukemia Syndrome	Pallor	ORPHA:3226
Tsh-Secreting Pituitary Adenoma	Hypotension, Enlarged pituitary gland, Pericardial effusion, Ventricular arrhythmia, Supraventric...	ORPHA:91347
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val...	OMIM:231005
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor	ORPHA:98870
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hepatosplen...	ORPHA:231222
Pseudo-Torch Syndrome 3	Cardiomegaly, Hypertension, Cerebral hemorrhage	OMIM:618886
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect	OMIM:617022
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,...	ORPHA:980
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism, Hypertension	OMIM:614492
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Central adrenal insufficiency	OMIM:612079
Sandhoff Disease	Hyperhidrosis, Hypohidrosis, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
Congenital Isolated Acth Deficiency	Hypotension, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin defici...	ORPHA:199296
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism, Hypertension	OMIM:614496
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral valve prolapse, Mitral regurgitation, Dilated cardiomyopathy	OMIM:607459
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy	OMIM:619259
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating aldosterone level, Adrenal insufficiency, Decreased circulating cortisol le...	OMIM:231550
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Atrioventricular canal defect, Third degree atrioventricular blo...	OMIM:619573
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage,...	ORPHA:79282
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Sweet Syndrome	Dilated cardiomyopathy, Small vessel vasculitis	ORPHA:3243
Myopathy, Mitochondrial, And Ataxia	Growth delay, Short stature, Pallor	OMIM:617675
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Complete atrioventricular canal defect, Ventricular septal defect, Stil...	OMIM:236680
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy	ORPHA:158687
Tay-Sachs Disease	Pallor	OMIM:272800
Mitochondrial Dna-Associated Leigh Syndrome	Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopathy, Hepatomegaly	ORPHA:255210
American Trypanosomiasis	Pallor	ORPHA:3386
Liddle Syndrome 2	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:618114
Familial Hypoaldosteronism	Hypotension, Hypovolemia, Decreased circulating aldosterone level, Adrenal insufficiency, Increas...	ORPHA:427
Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Oculopharyngodistal Myopathy 1	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Paroxysmal atrial fibrillation	OMIM:164310
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Adrenocortical carcinoma, Enlarged kidney, Hepatomegaly, Cryptorchidism, ...	OMIM:130650
Hereditary Spherocytosis	Skin ulcer, Growth delay, Pallor	ORPHA:822
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Pancreatitis, Angina pectoris, Abnormal cardiomyocyte morphology, Diabe...	ORPHA:565612
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins...	ORPHA:137675
Microphthalmia With Linear Skin Defects Syndrome	Abnormal cardiac septum morphology, Abnormal testis morphology, Mitral valve prolapse, Dilated ca...	ORPHA:2556
Sickle Cell Disease	Hypertension, Hepatomegaly, Cholelithiasis, Cardiomegaly, Splenomegaly	OMIM:603903
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Sheehan Syndrome	Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c...	ORPHA:91355
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Cardiomegaly...	ORPHA:268
Poems Syndrome	Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H...	ORPHA:2905
Heart Block, Congenital	Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse...	OMIM:234700
Cushing Disease	Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Capillary fragility, ...	ORPHA:96253
Prolactinoma	Hypotension, Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating A...	ORPHA:2965
Letterer-Siwe Disease	Pallor	OMIM:246400
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
1P36 Deletion Syndrome	Hypothyroidism, Telangiectasia, Abnormal cardiac septum morphology, Hypogonadism, Annular pancrea...	ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal	Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Bicuspid aortic valve, Ebstein a...	OMIM:607872
Leigh Syndrome With Nephrotic Syndrome	Cardiomegaly	ORPHA:255249
Glycogen Storage Disease Ii	Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, H...	OMIM:232300
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Lysosomal Acid Lipase Deficiency	Adrenal insufficiency, Hepatosplenomegaly, Adrenal calcification, Hepatomegaly, Portal hypertensi...	OMIM:278000
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Hepa...	ORPHA:96191
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Capillary fragility, Atypical pulmonary carcinoid tumor, Ad...	ORPHA:99889
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Pineal cyst, Atrial septal defect, Left ventricu...	OMIM:300967
Nephrotic Syndrome, Type 14	Adrenal insufficiency, Hypothyroidism, Hypogonadism, Cryptorchidism	OMIM:617575
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Adrenocorticotropic hormone excess, Hypovolemia, Decreased circulating aldosterone l...	ORPHA:289548
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hepatomegaly, Arrhythmia, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy	ORPHA:228308
Carney Triad	Hypertension, Pheochromocytoma, Arrhythmia, Gastrointestinal hemorrhage, Paraganglioma, Adrenal o...	ORPHA:139411
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Fumarase Deficiency	Pallor	OMIM:606812
Johanson-Blizzard Syndrome	Hypothyroidism, Ventricular septal defect, Dilated cardiomyopathy, Atrial septal defect, Diabetes...	OMIM:243800
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Neonatal death, Splenomegaly	OMIM:608013
Rare Circulatory System Disease	Pallor	ORPHA:98028
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Growth delay	ORPHA:329971
Fucosidosis	Cardiomegaly, Anhidrosis, Splenomegaly, Hepatomegaly	OMIM:230000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormality of the thymus, Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Adrenocorticotropic hormone excess, Hypovolemia, Decreased circulating aldosterone l...	ORPHA:168558
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Congenital Total Pulmonary Venous Return Anomaly	Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ...	ORPHA:99125
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Addison Disease	Hypotension, Thymoma, Primary testicular failure, Decreased circulating aldosterone level, Increa...	ORPHA:85138
Waldenström Macroglobulinemia	Purpura, Pallor	ORPHA:33226
Congenital Tracheomalacia	Pulmonary arterial hypertension, Ventricular septal defect, Single ventricle, Atrial septal defec...	ORPHA:95430
Acute Adrenal Insufficiency	Hypotension, Hypovolemia, Decreased circulating aldosterone level, Increased circulating ACTH lev...	ORPHA:95409
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Pericardial effusion, Adrenal insufficiency, Abnormal left ventricul...	ORPHA:99827
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98754
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Aregenerative Anemia	Pallor	ORPHA:101096
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa, Telangiectasia of the skin	ORPHA:79280
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Hypovolemia, Transient ischemic attack, Bicuspid aortic valve, Hypertension, Aor...	ORPHA:91387
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Adenohypophysitis	Pallor	ORPHA:95512
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Cerebral ischemia, Hypog...	ORPHA:54595
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98793
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Incontinentia Pigmenti	Short stature, Erythema, Pallor	OMIM:308300
Mirage Syndrome	Adrenal insufficiency, Decreased testicular size, Intracranial hemorrhage, Hypergonadotropic hypo...	OMIM:617053
Pearson Syndrome	Hypothyroidism, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Dia...	ORPHA:699
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177901
Panhypophysitis	Pallor	ORPHA:95513
Pituitary Apoplexy	Pallor	ORPHA:95613
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Decreased circulating aldosterone level, Decreased circulating cortisol level, Prima...	ORPHA:90794
Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:398073
Prader-Willi Syndrome	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:739
Fanconi Anemia, Complementation Group C	Anemic pallor, Intrauterine growth retardation, Short stature	OMIM:227645
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Myasthenia Gravis	Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormality of the thymus, Ha...	ORPHA:589
Xp21 Deletion Syndrome	Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency	ORPHA:261476
Ogden Syndrome	Pulmonary arterial hypertension, Torsade de pointes, Patent foramen ovale, Supraventricular tachy...	OMIM:300855
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Short stature, Pallor	OMIM:105650
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Severe Generalized Junctional Epidermolysis Bullosa	Bradycardia, Dilated cardiomyopathy	ORPHA:79404
46,Xy Partial Gonadal Dysgenesis	Primary gonadal insufficiency, Testicular gonadoblastoma, Decreased serum estradiol, Absence of s...	ORPHA:251510
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular outflow tract obstruction, Heart murmur, Transient ischemic attack, Left ventric...	ORPHA:365
Beckwith-Wiedemann Syndrome	Hypothyroidism, Adrenocortical carcinoma, Enlarged kidney, Hypertrophic cardiomyopathy, Pseudohyp...	ORPHA:116
Mucolipidosis Ii Alpha/Beta	Heart murmur, Enlarged kidney, Congestive heart failure, Aortic regurgitation, Hypertrophic cardi...	OMIM:252500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Delayed puberty, Dilated cardiomyopathy	ORPHA:79408
Aicardi-Goutières Syndrome	Hypothyroidism, Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Diabetes mel...	ORPHA:51
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hypothyroidism, Hyperthyroidism, Type II diabetes mellitus, Primary adrenal insufficienc...	OMIM:269200
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Abetalipoproteinemia	Cardiomegaly, Hypothyroidism, Congestive heart failure, Hepatomegaly	ORPHA:14
Mucopolysaccharidosis Type 3	Reduced left ventricular ejection fraction, Abnormal mitral valve morphology, Abnormal aortic val...	ORPHA:581
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Fanconi Anemia, Complementation Group E	Anemic pallor, Short stature	OMIM:600901
Adrenomyeloneuropathy	Adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Primary ad...	ORPHA:139399
Doors Syndrome	Double outlet right ventricle, Congenital hypothyroidism, Adrenal hyperplasia	ORPHA:79500
Fanconi Anemia, Complementation Group A	Anemic pallor, Short stature	OMIM:227650
Esophageal Atresia	Growth delay, Pallor	ORPHA:1199
Prader-Willi Syndrome	Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre...	OMIM:176270
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Annular pancreas, Cardiomegaly, Bradycardia, Cholelithiasis	ORPHA:97297
Alström Syndrome	Myocardial fibrosis, Hepatosplenomegaly, Decreased circulating T4 concentration, Abnormal coronar...	ORPHA:64
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Patent foramen ovale, Systolic heart murmur, Dilatation of the ventr...	OMIM:619991
Peroxisome Biogenesis Disorder 4B	Adrenal insufficiency, Hepatomegaly	OMIM:614863
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:618278
Microphthalmia, Syndromic 2	Double outlet right ventricle, Hypothyroidism, Ventricular septal defect, Adrenal insufficiency, ...	OMIM:300166
Choreoacanthocytosis	Splenomegaly, Dilated cardiomyopathy, Hepatomegaly	ORPHA:2388
Degcags Syndrome	Intrauterine growth retardation, Pallor	OMIM:619488
Autoimmune Polyendocrinopathy Type 3	Thymoma, Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Type I diabetes mellitus, ...	ORPHA:227982
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis	OMIM:615510
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Blackfan-Diamond Anemia	Growth delay, Short stature, Pallor	ORPHA:124
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor	ORPHA:667
Autoimmune Polyendocrinopathy Type 4	Thymoma, Anterior pituitary dysgenesis, Type I diabetes mellitus, Primary adrenal insufficiency, ...	ORPHA:227990
Williams Syndrome	Sudden cardiac death, Hypothyroidism, Precocious puberty, Abnormal cardiac septum morphology, Sup...	ORPHA:904
Fanconi Anemia, Complementation Group D2	Anemic pallor, Short stature	OMIM:227646
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Ventricular septal defect, Hypertension, Atrial septal defect, R...	ORPHA:3472
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Infection-Related Hemolytic Uremic Syndrome	Pallor	ORPHA:544482
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Ventricular hypertrophy, Retinal hemorrhage, Pancreatic calcific...	ORPHA:51608
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Congestive heart failure, Parotit...	OMIM:256040
Pallister-Hall Syndrome	Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Ventricular septal de...	ORPHA:672
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, De...	OMIM:201750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Singleton-Merten Syndrome 1	Subvalvular aortic stenosis, Congestive heart failure, Aortic valve stenosis, Cardiomegaly, Aorti...	OMIM:182250
Acute Liver Failure	Hypotension, Adrenal insufficiency, Intracranial hemorrhage, Shock, Gastrointestinal 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

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MGI Allele	Allele Type	Produced
Ly6e^em1(IMPC)Bay	Exon Deletion	Mice, Tissue
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

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