Gene Summary

Name:
lymphocyte antigen 6 complex, locus 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
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
embryonic growth retardation Ly6eem1(IMPC)Bay HOM E12.5 0.00
pallor Ly6eem1(IMPC)Bay HOM E12.5 0.00
abnormal embryo size Ly6eem1(IMPC)Bay HOM E12.5 0.00
abnormal placenta size Ly6eem1(IMPC)Bay HOM E12.5 0.00
embryonic growth retardation Ly6eem1(IMPC)Bay HET E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
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
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Ethanolaminosis
Cardiomegaly OMIM:227150
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Diabetes mellitus, Bicuspid aortic valve, Hypogonadism OMIM:615981
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Endocardial Fibroelastosis
Cryptorchidism, Cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis OMIM:226000
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy OMIM:615184
Retinitis Pigmentosa 42
Pallor OMIM:612943
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Arrhythmia, Congestive heart failure, Sple... OMIM:602390
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy OMIM:610140
Retinitis Pigmentosa 81
Pallor OMIM:617871
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Cardiomyopathy OMIM:619647
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy OMIM:604286
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Biventricular hypertrophy, Left ventricular non... OMIM:619424
Hemochromatosis Type 2
Dilated cardiomyopathy, Diabetes mellitus, Hypogonadism, Abnormality of endocrine pancreas physio... ORPHA:79230
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly OMIM:615895
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Cardiomyopathy, Familial Hypertrophic, 28
Myocardial late gadolinium enhancement, Reduced ejection fraction, Apical hypertrophic cardiomyop... OMIM:619402
Retinitis Pigmentosa 60
Pallor OMIM:613983
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Left ventricular hypertrophy, Congestive heart failure ORPHA:206546
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy OMIM:300718
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Hypertension,... ORPHA:563
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Diabetes mellitus, Supraventricular arrhythmia ORPHA:320360
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:255160
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy OMIM:300580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy OMIM:612937
Myopathy, Centronuclear, 5
Dilated cardiomyopathy OMIM:615959
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Reduced systolic function OMIM:616827
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Cryptorchidism, Sudden cardiac death, Prolonged... OMIM:610198
Dpm3-Cdg
Dilated cardiomyopathy ORPHA:263494
8P23.1 Duplication Syndrome
Adrenal insufficiency, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Myopathy, Distal, 1
Dilated cardiomyopathy OMIM:160500
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Endocardial fibroelastosis, Hypertr... OMIM:302060
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Sudden cardiac death, Arrhythmia OMIM:181350
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Systolic heart murmur, Congestive heart failure, ... ORPHA:439
Optic Atrophy 9
Pallor OMIM:616289
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy ORPHA:34515
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy OMIM:602541
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy, Ventricular hypertrophy OMIM:613690
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Mitral regurgitation, Dilated cardiomyopathy, Hypergonadotropic hypogonadism OMIM:212112
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Delayed puberty, Hypergonadotropic hypogonadism, Hypertension, Cerebral h... ORPHA:280679
Hyperaldosteronism, Familial, Type I
Adrenogenital syndrome, Hyperaldosteronism, Hypertension, Decreased circulating renin level, Adre... OMIM:103900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenoma, Prolactinoma, Inc... OMIM:102200
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Reduced systolic function, Ebstein anomaly of the tricuspid valve OMIM:619492
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:614299
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Glucocortocoid-insensitive primary hyperaldosteronism, Prolonged QT... ORPHA:251274
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Arrhythmia OMIM:615084
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatomegaly OMIM:609016
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Abnormal left ventricle morphology, Hypergonadotropic hypogonadism, Cereb... OMIM:300845
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Hepatomegaly, Pancreatitis OMIM:618805
Peripheral Cone Dystrophy
Pallor OMIM:609021
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Abnormal left ventricular function, Hype... ORPHA:75249
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Adrenal hyperplasia, Pulmonary arterial hypertension, Hyper... ORPHA:369929
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:252011
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Ab... OMIM:601214
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Timothy Syndrome
Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale, Prolonged QT interval, Ventricular sep... OMIM:601005
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Retinitis Pigmentosa 70
Pallor OMIM:615922
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Secreto... ORPHA:404
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, T... ORPHA:401923
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Dk1-Cdg
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Card... ORPHA:91131
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Secreto... ORPHA:403
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Arrhythmia ORPHA:352447
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Nemaline Myopathy 3
Dilated cardiomyopathy OMIM:161800
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Dilated cardiomyopathy, Hypothyroidism OMIM:603736
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Breath-Holding Spells
Pallor OMIM:607578
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure OMIM:300886
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy ORPHA:171442
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy OMIM:618120
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoplasia of t... OMIM:619313
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:201910
Optic Atrophy 1
Pallor OMIM:165500
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure, Abnorm... ORPHA:732
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Retinitis Pigmentosa 73
Pallor OMIM:616544
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Hyperhidrosis OMIM:613576
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Hypertension, Adrenal hyperplasia, De... OMIM:219080
Paragangliomas 3
Chemodectoma, Hypertension associated with pheochromocytoma, Glomus jugular tumor, Adrenal pheoch... OMIM:605373
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Hepatomegaly, Abnormal heart morphology, Prolon... ORPHA:398124
Retinitis Pigmentosa 27
Pallor OMIM:613750
Paragangliomas 1
Chemodectoma, Hypertension associated with pheochromocytoma, Tachycardia, Glomus tympanicum parag... OMIM:168000
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Arrhythmia, Congestive heart failure, Telangiectasia, Splenomegaly... OMIM:235200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Aortic regurgitation, Pulmonary insufficie... ORPHA:2326
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy ORPHA:272
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Sudden cardiac death, Hepatomegaly, Pulmonary arterial hypertension, Decr... OMIM:614921
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy OMIM:255310
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:202110
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Tachycardia OMIM:615821
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hypertension, Decreased circu... OMIM:615954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy ORPHA:59135
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Alstrom Syndrome
Dilated cardiomyopathy, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Congestive heart fa... OMIM:203800
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency, Hypogonadism OMIM:612079
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Heart murmur, Pulmonic valve my... ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Cardiomyopathy, Ventricular tachycardia, Sudden cardiac death OMIM:612124
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Hypertension, Diabetes mellitus, Adrenal hyperplasia, Increased circula... OMIM:615830
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:611126
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Right ventricular dilatation, Unroofed coronary sinus, Systolic heart m... ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hypertrophic cardiomyopathy, Pancreatitis OMIM:619386
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Primary Pigmented Nodular Adrenocortical Disease
Cardiac myxoma, Increased urinary cortisol level, Testicular neoplasm, Paradoxical increased cort... ORPHA:189439
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiomyopathy, Hypogonadism OMIM:613313
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypothyroidism, Dilated cardiomyopathy, Hepatosplenomegaly, Arrhythmia, Hi... ORPHA:231226
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hypertrophic c... OMIM:230500
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Hypothyroidism, Muscular ventricular septal defect, Prolonged QT interval... ORPHA:66634
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Patent foramen ovale, Arrhythmia, Ventricular t... ORPHA:26793
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Cryptorchidism, Situs inversus totalis, Cardiomyopathy, Diabete... OMIM:249270
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Wolff-Parki... OMIM:619343
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Beta-Thalassemia Major
Adrenal insufficiency, Hypothyroidism, Dilated cardiomyopathy, Hepatosplenomegaly, Arrhythmia, Hi... ORPHA:231214
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism, Enlarged kidney, Hypotension, Hepatomegaly, Abnormal heart... ORPHA:85445
Hemoglobin D Disease
Pallor ORPHA:90039
Mcleod Syndrome
Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Atrial fibrillation, Cardiomyopathy OMIM:300842
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypothyroidism, Panhypopituitarism, Reduced circulating prolactin concentr... OMIM:262600
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Short stature, Growth delay OMIM:615631
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Congestive heart failure, Hepato... ORPHA:367
Familial Cutaneous Collagenoma
Atrial septal defect, Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Hypertension OMIM:613677
Pituitary Gigantism
Premature pubarche, Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenom... ORPHA:99725
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:212140
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fasting hyperinsulinemia, Prolonged QT inter... ORPHA:71212
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Tricuspid r... OMIM:619433
Cyclic Vomiting Syndrome
Pallor, Growth delay OMIM:500007
Pure Autonomic Failure
Syncope, Orthostatic hypotension, Anhidrosis, Abnormality of circulating catecholamine level ORPHA:441
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte... ORPHA:231580
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block... ORPHA:98853
Melas
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Hypothyroidism, Recurrent pancreatitis, Wo... ORPHA:550
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Abnormal left ventricular function OMIM:607155
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Abnormality of... ORPHA:361
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Short stature ORPHA:49827
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Elevated jugular venous press... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Ventricular hypertrophy, Cardiomega... OMIM:619051
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Diabetes mellitus, Arrhythmia OMIM:606069
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Adrenal gland agenesis OMIM:611812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Sudden cardiac death, Atrioventricular block, Ventricular escape rhythm, ... ORPHA:98855
Propionic Acidemia
Cardiomyopathy, Hepatomegaly, Arrhythmia ORPHA:35
Autoimmune Polyendocrinopathy Type 2
Primary adrenal insufficiency, Hashimoto thyroiditis, Graves disease, Abnormality of the thyroid ... ORPHA:3143
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiomyopa... ORPHA:99901
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Congestive heart failure, Pulmonary arterial hypertension, Hyp... ORPHA:1457
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to g... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to g... ORPHA:71526
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Naxos Disease
Paroxysmal ventricular tachycardia, Arrhythmia, Congestive heart failure, Sudden cardiac death, C... ORPHA:34217
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Congestive heart failure OMIM:269920
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... OMIM:202010
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Cardiomy... OMIM:261740
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Mitral valv... ORPHA:324410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Ventricular arrhythmia, Syncope, Palp... OMIM:609040
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatomegaly, Hypogonadism OMIM:617872
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal circulating t... ORPHA:786
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Abnormality of the thymus, Cardiomyopathy, Left... OMIM:242840
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Hyperaldosteronism, Peric... ORPHA:73224
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation ORPHA:261250
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hepatomegaly, Cardiomegaly, Myocardial fibrosis OMIM:253250
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Pulmonic stenosis,... ORPHA:70474
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:609015
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abnormal response to corticotropin releasing hormone stimulation test, Macronodular adrenal hyper... ORPHA:189427
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor, Delayed puberty OMIM:600462
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... ORPHA:91349
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Dilated cardiomyopathy, Hypothyroidism, Diabetes mellitus OMIM:616541
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Kearns-Sayre Syndrome
Primary adrenal insufficiency, Arrhythmia, Third degree atrioventricular block, Hypoparathyroidis... OMIM:530000
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Von Hippel-Lindau Disease
Paraganglioma, Pancreatic cysts, Abnormal left ventricular function, Arrhythmia, Myocarditis, Pan... ORPHA:892
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Hypothyroidism, Reduced ejection fraction, Arrhythmia, Hyperthyroidism, P... ORPHA:254892
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Right ventricular cardiomyopathy, Dilatation of the ventricular cavity, Effort-induced polymorphi... OMIM:600996
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Decreased circulating cortisol level, Cardiomyopathy OMIM:618839
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Neuraminidase Deficiency
Cardiomegaly, Cardiomyopathy, Hepatomegaly, Splenomegaly OMIM:256550
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Hepatomegaly, Antenatal intracerebral hemorr... OMIM:608836
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level, Hypertension OMIM:605115
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatomegaly, Patent foramen ovale OMIM:610505
Myelofibrosis
Pallor, Purpura OMIM:254450
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversus totalis, Pulmonic sten... OMIM:615415
Collagenoma, Familial Cutaneous
Congestive heart failure, Tricuspid regurgitation, Primary testicular failure, Atrial fibrillatio... OMIM:115250
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Distal Monosomy 13Q
Primary adrenal insufficiency, Abnormal cardiac septum morphology ORPHA:1590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Transposition of the great arter... OMIM:253800
Retinitis Pigmentosa 51
Pallor OMIM:613464
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Increased circulating renin level, Hypotension, Hyperactive renin-angiotensin system, Pseudohypoa... OMIM:177735
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta OMIM:617022
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure,... ORPHA:3342
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly OMIM:609981
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Hashimoto thyroiditis, Splenomeg... OMIM:615688
Fucosidosis
Cardiomegaly, Hypothyroidism, Hepatomegaly, Hyperhidrosis ORPHA:349
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperaldosteronism, Hypotension, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Glycerol Kinase Deficiency
Cryptorchidism, Adrenal insufficiency, Adrenocortical hypoplasia OMIM:307030
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy ORPHA:70595
Irida Syndrome
Pallor ORPHA:209981
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Abnormal circulating androgen level, Macroorchidism, Hypera... ORPHA:90790
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Fanconi Anemia, Complementation Group I
Pallor, Short stature, Intrauterine growth retardation OMIM:609053
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hypertrophic cardiomyopathy, Sudden cardiac death, Hepatomegaly, Cardi... OMIM:201475
Wolman Disease
Adrenal insufficiency, Splenomegaly, Hepatomegaly, Adrenal calcification ORPHA:75233
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circulating pregnenolone... ORPHA:95699
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency OMIM:300270
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Hec Syndrome
Cardiomyopathy, Vaginal hydrocele, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypert... OMIM:614008
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Retinitis Pigmentosa 75
Pallor OMIM:617023
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failur... ORPHA:363705
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating renin level, Increased circulating 18-hydroxycorti... OMIM:610600
Primary Myelofibrosis
Pallor, Petechiae, Purpura, Ecchymosis ORPHA:824
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... ORPHA:320
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Acute pancreatitis, Cardiac arrest, Hypotension, Hepatomegaly ORPHA:20
Truncus Arteriosus
Tetralogy of Fallot, Abnormal heart valve morphology, Right ventricular hypertrophy, Aortic regur... ORPHA:3384
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis ORPHA:96181
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Increased circulating renin level, Abnormal circulating corticosterone l... ORPHA:556037
Cold Agglutinin Disease
Pallor ORPHA:56425
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Atrial septal defect, Pancreatic hypoplasia, Splenomegaly, Hypergonadotropic ... OMIM:602782
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly ORPHA:99931
Primary Lipodystrophy
Polycystic ovaries, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hypertension, Type II... ORPHA:90970
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hypotension, Adrenal hypoplasia, Adrenocorticotropin defici... ORPHA:199296
Elliptocytosis 1
Pallor OMIM:611804
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly, Arrhythmia ORPHA:42
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Dravet Syndrome
Pallor ORPHA:33069
Senior-Loken Syndrome 8
Pallor OMIM:616307
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Central adrenal insufficiency, Adrenocorticotropin deficient adrenal... ORPHA:91347
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Steinert Myotonic Dystrophy
Cholelithiasis, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged PR inter... ORPHA:273
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Vasculitis in the skin, Hepatosplenomegaly, Congestive heart failure, Myo... ORPHA:3260
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Mogs-Cdg
Hypothyroidism, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect, Hydrocele... ORPHA:79330
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Hypertrophic cardiomyopathy, Hepatomegaly, Heart murmur, Low-output conges... ORPHA:308552
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Stillbirth, Ventricular septal defect, Adrenal gland dysg... OMIM:236680
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Patent foramen ovale, Reduced ejection fraction, Congestive ... ORPHA:980
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Delayed puberty ORPHA:89842
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating ACTH level ORPHA:43
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly OMIM:603903
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature ORPHA:98870
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Hepatomegaly ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Pulmonary arterial hypertension, Abnormal heart morph... ORPHA:79282
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, High-output congestive... ORPHA:231222
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Congestive heart failure OMIM:619259
Sweet Syndrome
Dilated cardiomyopathy, Small vessel vasculitis ORPHA:3243
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hypohidrosis, Hepatomegaly, Cardiomegaly, Hyperhidrosis OMIM:268800
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Familial Hypoaldosteronism
Hypovolemia, Adrenal insufficiency, Orthostatic hypotension, Increased circulating renin level, H... ORPHA:427
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Atrial septal defect, Biventricular hypertrophy, Third degree atrioventri... OMIM:619573
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy OMIM:164310
Myopathy, Mitochondrial, And Ataxia
Pallor, Short stature, Growth delay OMIM:617675
Beckwith-Wiedemann Syndrome
Enlarged kidney, Adrenocortical carcinoma, Cryptorchidism, Pancreatic hyperplasia, Hepatomegaly, ... OMIM:130650
American Trypanosomiasis
Pallor ORPHA:3386
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Tay-Sachs Disease
Pallor OMIM:272800
Hereditary Spherocytosis
Pallor, Skin ulcer, Growth delay ORPHA:822
Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Arrhythmia, Splenomegaly, Abnormal cardiomyocyte morphology, Hepatomega... ORPHA:565612
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, Hypertrophic cardiomyopathy, Tricuspid ... ORPHA:2556
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Orthostati... ORPHA:91355
CantĂș Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Polycystic ovaries, Congestive heart failure, Ventricular ... ORPHA:137675
Nephrotic Syndrome, Type 14
Cryptorchidism, Adrenal insufficiency, Hypothyroidism, Hypogonadism OMIM:617575
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Visceromegaly, Increased circulating prolactin con... ORPHA:2905
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atriov... OMIM:234700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Growth delay ORPHA:300298
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Right ventricular hypertrophy... ORPHA:268
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Decreased circulating ACTH level, Central adr... ORPHA:2965
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, Atrial septal defect, Left ven... OMIM:300967
Cushing Disease
Pituitary corticotropic cell adenoma, Capillary fragility, Increased urinary cortisol level, Myoc... ORPHA:96253
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly, Anhidrosis OMIM:230000
1P36 Deletion Syndrome