Gene Summary

Name:
lymphocyte antigen 6 family member E
Synonyms:
Ly67,  Sca-2,  Tsa1,  TSA-1,  RIG-E,  9804

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
prenatal lethality Ly6eem1(IMPC)Bay HOM   E18.5 0.00
embryonic growth retardation Ly6eem1(IMPC)Bay HET E12.5 0.00
embryonic growth retardation Ly6eem1(IMPC)Bay HOM E12.5 0.00
pallor Ly6eem1(IMPC)Bay HOM E12.5 0.00
abnormal placenta size Ly6eem1(IMPC)Bay HOM E12.5 0.00
pale yolk sac Ly6eem1(IMPC)Bay HOM E12.5 0.00
abnormal embryo size Ly6eem1(IMPC)Bay HOM E12.5 0.00
preweaning lethality, complete penetrance Ly6eem1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

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