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Gene: Ly6e MGI:106651

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Gene Summary

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

Order Alleles

IMPC Data Collections

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

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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
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