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Gene: Cav1 MGI:102709

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Gene Summary

Name:
caveolin 1, caveolae protein
Synonyms:
Cav-1,  caveolin-1

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
increased circulating HDL cholesterol level Cav1em2(IMPC)Ics HOM Early adult 1.70×10-12
decreased grip strength Cav1em2(IMPC)Ics HOM Early adult 1.40×10-05
increased hemoglobin content Cav1em2(IMPC)Ics HOM Early adult 2.79×10-06
increased circulating cholesterol level Cav1em2(IMPC)Ics HOM Early adult 1.13×10-17
decreased cardiac muscle contractility Cav1em2(IMPC)Ics HOM   Early adult 3.40×10-05
increased mean corpuscular volume Cav1em2(IMPC)Ics HOM Early adult 8.71×10-05
increased heart rate Cav1em2(IMPC)Ics HOM Early adult 5.53×10-05
increased mean corpuscular hemoglobin Cav1em2(IMPC)Ics HOM Early adult 8.31×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Human diseases caused by Cav1 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.

The table below shows human diseases predicted to be associated to Cav1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 5
Non-medullary thyroid carcinoma OMIM:616535
Thyroid Carcinoma, Familial Medullary
Medullary thyroid carcinoma OMIM:155240
Thyroid Cancer, Nonmedullary, 3
Non-medullary thyroid carcinoma OMIM:606240
Thyroid Cancer, Nonmedullary, 2
Non-medullary thyroid carcinoma, Follicular thyroid carcinoma, Papillary thyroid carcinoma OMIM:188470
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Idiopathic Hypercalciuria
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria ORPHA:2197
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Barth Syndrome
Abnormal mitochondrial morphology, Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria OMIM:612286
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proxima... ORPHA:435660
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Right Ventricular Hypoplasia, Isolated
Hypoplasia of right ventricle OMIM:277200
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... OMIM:604286
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... OMIM:608600
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... OMIM:143880
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Reduced subcutaneous... ORPHA:280356
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa... OMIM:617872
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type... OMIM:619903
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid conce... OMIM:615980
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... ORPHA:99879
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia OMIM:145980
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia OMIM:602722
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Transient Neonatal Diabetes Mellitus
Macroglossia, Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hypergly... ORPHA:99886
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti... ORPHA:860
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... OMIM:277000
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Melena, Increased mean corpuscular volume, Increased to... ORPHA:98870
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc... OMIM:616827
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... ORPHA:63273
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... OMIM:300580
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Foxp1 Syndrome
Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Clinodact... ORPHA:391372
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... ORPHA:263494
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi... ORPHA:353
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Muscle fiber splitting, Cardiomyopathy, Extremely elevat... ORPHA:171445
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis, Severely reduced left ventricula... ORPHA:444013
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... ORPHA:280365
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Cyanosis, Splenomegaly, Pulmonary arterial hyp... ORPHA:2414
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Blepharochalasis And Double Lip
Goiter OMIM:109900
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Increased adipose t... OMIM:151660
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno... OMIM:185000
Poems Syndrome
Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, In... ORPHA:2905
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Cirrhosis, Pulmonary arterial hypertension... OMIM:178500
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Glutaric Aciduria Iii
Hyperthyroidism, Hypertension, Failure to thrive, Goiter OMIM:231690
Overlap Myositis
Finger swelling, Rheumatoid arthritis, Abnormality of connective tissue, Subluxation of the small... ORPHA:206572
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries ORPHA:90301
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Arrh... OMIM:602390
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Exercise intolerance, Usual interstitial pneumonia, Fatigue,... ORPHA:2032
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano... ORPHA:555874
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure ORPHA:324588
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hyperinsulinemia, Hepatomegaly, Tachycardia, Dysp... OMIM:613327
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Mitral regurgitation, Limited elbow movem... OMIM:300280
Bronchopulmonary Dysplasia
Hyperoxemia, Right ventricular hypertrophy, Right ventricular failure ORPHA:70589
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Edema, Atelectasis OMIM:267450
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Pituitary hypothyroidism, Abnormality of the menstrual cycle... ORPHA:91348
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... ORPHA:171442
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Secondary amenorrhea, Hypergonadot... ORPHA:3085
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... ORPHA:75249
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter OMIM:180295
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Pierre Robin Syndrome
Cor pulmonale OMIM:261800
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture OMIM:618856
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hepatic failure, Glycosuria, Failure to th... ORPHA:2088
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Micropenis, Hypercalcemia, Hypercalciuria, Hypospadias OMIM:614732
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Mult... ORPHA:1879
Takayasu Arteritis
Weight loss, Arthralgia, Anorexia, Inflammatory abnormality of the eye, Vasculitis, Hypertrophic ... ORPHA:3287
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Myopathy, Lipodystrophy, Pancrea... ORPHA:2348
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... OMIM:613239
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Cellulitis, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent ... OMIM:266265
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Alg9-Cdg
Hypoplasia of the musculature, Ventricular septal defect, Low posterior hairline, Talipes equinov... ORPHA:79328
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Dextrocardia OMIM:106700
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Postnatal growth retardation, Intrauterine growth ... OMIM:616733
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ... ORPHA:90064
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level OMIM:613677
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Proximal amyotrophy, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries, Primary amenorrhea OMIM:615363
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Infantile Sialic Acid Storage Disease
Osteopenia, Fair hair, Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, C... OMIM:269920
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Sandal gap, Postexertional symptom exacerbation... OMIM:619040
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Internal hemorrhage, Tachycardia, Right ventricular hyper... ORPHA:335
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Type II diabe... OMIM:610947
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Cryptorchidism, Elevated circulating c... OMIM:613156
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... OMIM:612561
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Sarcoidosis, Susceptibility To, 2
Emphysema, Chest pain, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary arterial hypertens... OMIM:612387
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Werner Syndrome
Small hand, Premature graying of hair, Neoplasm of the oral cavity, Slender build, Type II diabet... ORPHA:902
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly, T... ORPHA:90037
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia OMIM:188580
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Stuve-Wiedemann Syndrome 2
Eczematoid dermatitis, Congestive heart failure, Intrauterine growth retardation, Bowing of the l... OMIM:619751
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Hernia, Persistent fetal ... ORPHA:363705
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, El... OMIM:265450
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
ERI1-related disease
Ventricular septal defect, Decreased body weight, Finger joint hypermobility, Dislocated radial h... OMIM:608739
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Sengers Syndrome
Osteopenia, Exercise intolerance, Growth delay, Hypertrophic cardiomyopathy, Myopathy, Pulmonary ... OMIM:212350
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Abnormal internal genitalia, Ap... OMIM:273250
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi... OMIM:227810
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Skeletal muscle atrophy, Choles... OMIM:246200
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Type 1 muscle fiber predominance, Limb muscle weakness, ... OMIM:161800
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Increased circulating ferritin concentration, Decreased serum testosterone... ORPHA:465508
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Niemann-Pick Disease, Type B
Splenomegaly, Arthralgia, Decreased acid sphingomyelinase activity, Hypertriglyceridemia, Hepatom... OMIM:607616
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Graves Disease
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Weight loss, Inc... OMIM:275000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Recurrent pharyngitis, Hi... ORPHA:168569
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema ORPHA:70578
Nestor-Guillermo Progeria Syndrome
Mitral regurgitation, Sparse eyelashes, Limited elbow movement, Right atrial enlargement, Alopeci... OMIM:614008
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Increased circulating interleukin 8 concentration, Prematu... OMIM:256040
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ventricular Fibrillati