banner
Genes Phenotypes Help, News, Blog

Gene: Dnm1l MGI:1921256

Log in to follow

Gene Summary

Name:
dynamin 1-like
Synonyms:
Drp1,  6330417M19Rik,  Dnmlp1,  python

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
abnormal cornea morphology Dnm1ltm1b(KOMP)Wtsi HET   Early adult 1.92×10-05
abnormal optic disk morphology Dnm1ltm1b(KOMP)Wtsi HET Early adult 8.84×10-05
preweaning lethality, complete penetrance Dnm1ltm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal vitreous body morphology Dnm1ltm1b(KOMP)Wtsi HET   Early adult 1.55×10-07
abnormal coat/ hair morphology Dnm1ltm1b(KOMP)Wtsi HET Early adult 8.16×10-05
persistence of hyaloid vascular system Dnm1ltm1b(KOMP)Wtsi HET Early adult 2.40×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

View images

Human diseases caused by Dnm1l 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 associated to Dnm1l by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy 5
Optic atrophy OMIM:610708
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Abnormality of the mitochondrion, Tremor, Skeletal muscle atrophy, Dystonia ORPHA:330050
Autosomal Dominant Optic Atrophy, Classic Form
Temporal optic disc pallor, Morning glory anomaly, Optic atrophy, Cataract ORPHA:98673
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic disc pallor, Optic atrophy OMIM:614388

The table below shows human diseases predicted to be associated to Dnm1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:613286
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611880
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Reduced left ventric... OMIM:604765
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... OMIM:615373
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... OMIM:613694
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... OMIM:612943
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Cardiomyopathy, Dilated, 1Gg
Cardiogenic shock, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular eje... OMIM:613642
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Splenomegaly, Hydrops fetalis, Chylopericardium, Congestive hear... ORPHA:2414
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, Left ventricular outflow tra... OMIM:613255
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Pericardial effusion, Oligohydramnios, Decreased activity of mitochondrial compl... OMIM:614702
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Hemochromatosis, Type 1
Splenomegaly, Telangiectasia, Cirrhosis, Azoospermia, Congestive heart failure, Hepatocellular ca... OMIM:235200
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... OMIM:601493
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Combined Oxidative Phosphorylation Deficiency 38
Respiratory insufficiency, Hyperalaninemia, Wolff-Parkinson-White syndrome, Decreased activity of... OMIM:618378
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Peripheral edema, Hepatomegaly, A... ORPHA:57777
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 2
Optic atrophy OMIM:311050
Coronary Arterial Fistula
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... ORPHA:2041
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Acute Interstitial Pneumonia
Bronchiectasis, Pericardial effusion, Pleural effusion, Crackles, Peripheral edema, Decreased DLC... ORPHA:79126
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Optic Atrophy 5
Optic atrophy OMIM:610708
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Increased left ventricular end-diastolic volume... OMIM:615248
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... ORPHA:45452
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Hyperglycinemia, Decreased activity of mitochondr... OMIM:614299
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Familial Atrial Myxoma
Pedal edema, Bacterial endocarditis, Exertional dyspnea, Pulmonic valve myxoma, Heart murmur, Jau... ORPHA:615
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure, Decreased activity of mitochondrial complex IV, Increas... OMIM:616794
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pericardial effusion, Exercise-induced rhabdomyolysis, Elevated hepatic transaminase, Elevated ci... ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... ORPHA:1041
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Polyhydramnios, Hepatic failure, Flexion contracture, Cirrhosis, Abnor... ORPHA:367
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... OMIM:619048
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Tachypnea, Aortic reg... OMIM:616501
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Staphylococcal Necrotizing Pneumonia
Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural e... ORPHA:36238
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Respiratory insufficiency, Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardi... OMIM:255160
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Peripheral ... ORPHA:99106
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Portal vein hypoplasia, Por... OMIM:619433
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Increased circulating surfactant protein level, Hypox... ORPHA:178320
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... OMIM:616414
Complete Atrioventricular Septal Defect
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... ORPHA:1329
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Atransferrinemia
Congestive heart failure OMIM:209300
Avian Influenza
Pneumothorax, Rhabdomyolysis, Productive cough, Hepatitis, Hypoxemia, Congestive heart failure, R... ORPHA:454836
Congenital Myopathy 8
Respiratory insufficiency, Increased variability in muscle fiber diameter, Muscle fiber atrophy, ... OMIM:618654
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency ORPHA:295
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven... ORPHA:206546
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Atrial ... ORPHA:90308
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly, Con... OMIM:269920
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... ORPHA:330001
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... OMIM:261740
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Peripheral edema, Exer... ORPHA:563
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... OMIM:212140
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy OMIM:617087
Glycogen Storage Disease Ii
Respiratory insufficiency, Right axis deviation, Recurrent respiratory infections, Sinus tachycar... OMIM:232300
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hepatic failure, Hydrops fetalis, Pericardial effusion, Hepatitis, R... ORPHA:292
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Pleural empyema, Liver abscess, Elevated hepatic transaminase, C... ORPHA:67
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
Combined Oxidative Phosphorylation Deficiency 5
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:611719
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Right bundle branch ... ORPHA:263297
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Hemochromatosis, Type 2A
Splenomegaly, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, Increased... OMIM:602390
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Primary Effusion Lymphoma
Pericardial effusion, Abnormality of the peritoneum, Dyspnea, Pleural effusion ORPHA:48686
Noonan Syndrome 8
Polyhydramnios, Webbed neck, Ventricular septal defect, Left ventricular hypertrophy, Large for g... OMIM:615355
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... ORPHA:217607
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Systemic Capillary Leak Syndrome
Hypotension, Pedal edema, Pulmonary edema, Pericarditis, Pleural effusion, Cardiorespiratory arre... ORPHA:188
Hypocomplementemic Urticarial Vasculitis
Angioedema, Splenomegaly, Small vessel vasculitis, Pericardial effusion, Emphysema, Pleural effus... ORPHA:36412
Hemochromatosis, Type 2B
Splenomegaly, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Elevated hepatic tran... OMIM:613313
Propionic Acidemia
Cerebellar hemorrhage, Hyperglycinemia, Limb hypertonia, Tachypnea, Apnea, Hyperammonemia, Hepato... OMIM:606054
Infant Acute Respiratory Distress Syndrome
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... ORPHA:70587
Malignant Atrophic Papulosis
Pleural effusion, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Upper airway obstr... ORPHA:60032
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Abnormal mit... OMIM:618528
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Hyperbilirubinemia, Hyp... ORPHA:542323
Mulibrey Nanism
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatom... OMIM:253250
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Morbid Obesity And Spermatogenic Failure
Azoospermia, Congestive heart failure, Hypertension, Obesity, Hepatic steatosis, Myocardial infar... OMIM:615703
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Hsd10 Mitochondrial Disease
Choreoathetosis, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, A... OMIM:300438
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Pleural effusion, Elevated circulating C-reactive protein concentration, Hepatomega... ORPHA:85414
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Aortic Arch Interruption
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosu... ORPHA:2299
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Aniridia 2
Optic atrophy, Lens subluxation, Iris coloboma, Cataract, Aniridia OMIM:617141
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Central sleep apnea, Congestive heart failure, Hepatic steatosis, Hyper... ORPHA:70472
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Hepatic failure, Hepatosplenomegaly, Edema, Skeletal ... OMIM:232500
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h... OMIM:605676
Familial Idiopathic Dilatation Of The Right Atrium
Pleural effusion, Palpitations, Peripheral edema, Hepatomegaly, Tricuspid regurgitation, Abnormal... ORPHA:1677
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I, Congestive heart failure OMIM:615440
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Exertional dyspnea, Pulmonary edema,... ORPHA:199241
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Macrovesicular hepatic steatosis, Hyper... OMIM:618234
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure, Decreased activity of... OMIM:616045
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Asthma, Increased circulating surfactant protein level, Secu... ORPHA:2257
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper... OMIM:263000
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:611878
Cataract-Microcornea Syndrome
Microcornea, Iris coloboma, Cataract, Corneal opacity, Corneal dystrophy ORPHA:1377
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulat... ORPHA:352447
Polymyositis
Respiratory insufficiency, Abnormal atrioventricular conduction, Abnormal pulmonary interstitial ... ORPHA:732
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Exertio... ORPHA:352470
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Cerebral hemorrhage, Secundum atrial septal defect, Elevated hepatic t... OMIM:617397
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Hyperphosphatemia, Abnormality of masseter muscle, Exercise-induced... ORPHA:423
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Flexion contracture, Respiratory failure, Hypoventilation, Abnormal EKG... OMIM:310200
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Elevated hepatic transaminase, ... OMIM:619644
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertion, Periphe... ORPHA:60025
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:616198
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... ORPHA:411703
Sandhoff Disease
Splenomegaly, Recurrent respiratory infections, Congestive heart failure, Hepatomegaly ORPHA:796
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Flexion contracture, Hydrops fetalis, Ventricular septal defect, Webbed neck, Pul... OMIM:616897
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Respiratory distress, Hypertrophic cardiomyopathy, Low-output c... ORPHA:91130
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Hypertension, Congestive heart failure, Hypertrophic ca... ORPHA:225
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Respiratory fai... ORPHA:890
Bacterial Toxic-Shock Syndrome
Hypotension, Respiratory tract infection, Hepatitis, Peritonitis, Respiratory distress, Tachypnea... ORPHA:36234
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... ORPHA:99105
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... OMIM:309300
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... OMIM:615160
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Asthma, C... OMIM:610978
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Congenital Gerbode Defect
Pedal edema, Systolic heart murmur, Crackles, Palpitations, Peripheral edema, Elevated right atri... ORPHA:99095
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Tetanus
Hypertension, Respiratory distress, Elevated circulating creatine kinase concentration, Tremor, O... ORPHA:3299
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymi... ORPHA:324588
Necrotizing Enterocolitis
Hypotension, Peritonitis, Shock, Apnea, Edema, Abnormal heart morphology, Hyponatremia, Ascites, ... ORPHA:391673
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ... ORPHA:1194
Neuraminidase Deficiency
Hydrops fetalis, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Ascites, Facial edema, Sple... OMIM:256550
Scedosporiosis
Endocarditis, Bronchitis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Per... ORPHA:449280
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... OMIM:620102
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysp... ORPHA:1349
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Iris coloboma, Cataract, Corneal opacity, Chorioretinal col... ORPHA:1473
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Tropical Endomyocardial Fibrosis
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... ORPHA:75565
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Elevated circulating acylcarnitine concentration, Hydrops fetalis, Rha... OMIM:609015
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, Is... ORPHA:2038
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Episodic tachypnea, Apnea, Abnormal heart morphology, Tachycardia ORPHA:79264
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Pulmo... ORPHA:3426
Aspergillosis
Bronchiectasis, Asthma, Pleuritis, Hepatitis, Intracranial hemorrhage, Abnormality on pulmonary f... ORPHA:1163
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Ischemic stroke, Pleural effusion, Myocardial infarction, Gastro... ORPHA:679
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology, Raynaud phenomenon, Congestive heart failure, Elevate... ORPHA:206569
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, ... OMIM:614857
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, Ce... ORPHA:99901
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Familial Cutaneous Collagenoma
Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Sialidosis Type 2
Pedal edema, Flexion contracture, Hydrops fetalis, Tremor, Skeletal muscle atrophy, Dyspnea, Hepa... ORPHA:87876
Scorpion Envenomation
Cardiogenic shock, Abnormal nasal mucus secretion, Increased circulating creatine kinase MB isofo... ORPHA:466677
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension, Tachypnea OMIM:613320
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Generalized amyotrophy, Nocturnal hypoventilat... ORPHA:324604
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... OMIM:540000
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Gastrointestinal hemorrhage, Hepatomegaly ORPHA:2198
Cocaine Intoxication
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... ORPHA:90068
Combined Oxidative Phosphorylation Defect Type 23
Decreased activity of mitochondrial complex I, Severely reduced left ventricular ejection fractio... ORPHA:444013
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Q Fever
Endocarditis, Abnormal pulmonary interstitial morphology, Splenomegaly, Abnormality of the liver,... ORPHA:781
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Barth Syndrome
Endocardial fibroelastosis, Skeletal myopathy, Recurrent bronchitis, Congestive heart failure, In... OMIM:302060
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Hyperuricemia, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated card... ORPHA:20
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Optic Atrophy 6
Optic atrophy OMIM:258500
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Pedal edema, Respiratory tract infection, Hypertension, Pleural effusion, Ede... ORPHA:567546
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... ORPHA:300751
Tularemia
Respiratory distress, Pleural effusion, Cough, Pneumonia, Tachycardia ORPHA:3392
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Polycystic liver disease, Dyspnea OMIM:174050
American Trypanosomiasis
Achalasia, Congestive heart failure, Arrhythmia, Edema, Dyspnea, Cough, Hepatomegaly, Periorbital... ORPHA:3386
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Eisenmenger Syndrome
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... ORPHA:97214
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Resting tremor, Choreoathetosis, Dilated cardiomyopathy, Congestive heart failur... OMIM:606703
Congenital Heart Defects, Multiple Types, 2
Left ventricular outflow tract obstruction, Congestive heart failure, Aortic regurgitation, Aorti... OMIM:614980
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:606068
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Atrial Septal Defect, Ostium Secundum Type
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnorma... ORPHA:99103
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... ORPHA:26791
Congenital Toxoplasmosis
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Ascites ORPHA:858
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Flexion contracture, Congestive heart failure, Myopathy, Skeletal musc... ORPHA:157973
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... ORPHA:137902
Ethylene Glycol Poisoning
Hypotension, Episodic respiratory distress, Cerebral edema, Pulmonary edema, Hyperkalemia, Hypert... ORPHA:31826
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Hypoxemia, Pleural effusion, Crackles, Nonproductive cough, Restrictive ventilatory defec... ORPHA:2902
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... ORPHA:52430
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Pericardial effusion, Left ventricular hypertrophy, Hypertension, Elevated hepa... OMIM:619487
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... ORPHA:137675
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... OMIM:300476
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Abnormality of the liver, Cerebral hemo... ORPHA:464321
Immunodeficiency 87 And Autoimmunity
Atrioventricular canal defect, Pleural effusion, Biventricular hypertrophy, Hepatic steatosis, He... OMIM:619573
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Dengue Fever
Hypotension, Cerebral hemorrhage, Epistaxis, Cardiorespiratory arrest, Hypoproteinemia, Gastroint... ORPHA:99828
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Raynaud phenomenon, Myositis, Pleural effusion, Edema, Dyspnea, Ascites ORPHA:93552
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Pleural effusion, Recurrent upper respiratory tract infecti... OMIM:618183
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased prealbumin level, Lymphedema, Reduced circulating transferrin concentration,... ORPHA:90363
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Hepatic cysts, Facial telangiectasia, Heart murmur, Neoplasm of the liver,... ORPHA:100085
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morphology, Periportal fibro... ORPHA:64743
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Pericardial effusion, Generalized edema, Pleural effusion, Edema, Hypoprotei... ORPHA:90362
Erdheim-Chester Disease
Abnormal pericardium morphology, Abnormal pulmonary interstitial morphology, Retroperitoneal fibr... ORPHA:35687
Beta-Ketothiolase Deficiency
Hypotension, Hyperuricemia, Hypertension, Edema, Hyperammonemia, Cough, Hepatomegaly, Dehydration... ORPHA:134
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
African Iron Overload
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Congestiv... ORPHA:139507
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contracture, Episodic tachypnea, Torticollis, Small hypothenar eminence, Contract... ORPHA:2872
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema OMIM:618773
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, P... ORPHA:69735
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Lymphedema, Congestive heart failure, Abnormality of the muscu... ORPHA:137667
Cholera
Hypotension, Aspiration pneumonia, Hypokalemia, Abnormal blood ion concentration, Hypovolemic sho... ORPHA:173
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Jaundice... OMIM:617049
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Oligohydramnios, Asci... ORPHA:1046
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis, Hepatom... ORPHA:163596
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Cerebral edema, Hyperalaninemia, Hepatic failure, Left ventricular hypertrophy, Congestive heart ... OMIM:619355
Congenital Sialidosis Type 2
Respiratory tract infection, Telangiectasia, Abnormal EKG, Hepatosplenomegaly, Edema, Abnormal he... ORPHA:93400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitocho... OMIM:251880
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... OMIM:616866
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion,... ORPHA:3260
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Lymphedema ORPHA:545
Mitochondrial Complex I Deficiency, Nuclear Type 20
Cerebral edema, Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase,... OMIM:611126
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Pleuritis, Mitral valve prolapse, Camptodactyly of toe, Pericarditis, Mi... ORPHA:2848
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Hepatic failure, Flexion contracture, Predominantly lower limb lymphedem... ORPHA:261519
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion, Increased circulating ferritin concentration, Elevated ci... OMIM:613011
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:612572
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory tract infectio... ORPHA:308552
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Edema, Hypoproteinemia, Hepatomegaly, Budd-Chiari syndrome, Ascites, Hypoalbu... OMIM:226300
Kaposiform Lymphangiomatosis
Pancreatic cysts, Epidural hemorrhage, Pericardial effusion, Abnormal spleen morphology, Hepatosp... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Hepatosplenomegaly, Edema, Hepatomegaly... OMIM:608776
Babesiosis
Respiratory insufficiency, Hepatic failure, Jaundice, Recurrent pharyngitis, Congestive heart fai... ORPHA:108
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Heart murmur, Congestive heart failure, Tricuspid s... ORPHA:95459
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Pparg-Related Familial Partial Lipodystrophy
Thin skin, Cirrhosis, Hyperuricemia, Abnormality of skeletal muscle fiber size, Pancreatitis, Hyp... ORPHA:79083
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Camptodactyly, Oligohydramnios, Edema, Cholestasis, Hep... OMIM:608104
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Mitochondrial swelling, Hypertrophic cardiomyopathy, Palpitations, Abnormal hear... OMIM:618250
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Raynaud phenomenon, Myositis, Skeletal muscle atrophy, Elevated circulating C-rea... OMIM:615934
Noonan Syndrome 10
Webbed neck, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular ... OMIM:616564
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemi... OMIM:620085
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... OMIM:251270
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Decreased muscle mass, Congestive heart failure, Atrial septal defect, Facial hyp... ORPHA:500533
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Elevated jugular venous pressu... ORPHA:465508
Truncus Arteriosus
Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, Ventricular septal defect, A... ORPHA:3384
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pedal edema, Abnormal pulmonary interstitial morphology, Cirrhos... ORPHA:77259
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Abnormal left ventricular function, Palpitations, Reduce... ORPHA:70591
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Restrictive venti... ORPHA:2905
Lymphatic Malformation 6
Polyhydramnios, Webbed neck, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural... OMIM:616843
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Absence Of The Pulmonary Artery
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronc... ORPHA:980
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Pulmonary hypoplasia, Heart block,... ORPHA:185
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:615838
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... ORPHA:98853
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... OMIM:301045
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Episodic tachypnea, Intermittent hyperventilation, Apneic episode... ORPHA:348
Hyperkalemic Periodic Paralysis
Respiratory insufficiency, Flexion contracture, Hypokalemia, Hyperkalemia, Congestive heart failu... ORPHA:682
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Pontocerebellar Hypoplasia, Type 13
Asthma, Pleural effusion, Edema, Decreased liver function, Sleep apnea, Recurrent respiratory inf... OMIM:618606
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Macular h... ORPHA:91495
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Sho... OMIM:314400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
Serotonin Syndrome
Hypotension, Hepatic failure, Rhabdomyolysis, Hypertension, Tremor, Tachycardia, Tachypnea ORPHA:43116
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure, Respiratory distress OMIM:619751
Waldenström Macroglobulinemia
Respiratory insufficiency, Retinal hemorrhage, Pedal edema, Congestive heart failure, Epistaxis, ... ORPHA:33226
Primary Sclerosing Cholangitis
Spider hemangioma, Hepatocellular carcinoma, Elevated hepatic transaminase, Cholangiocarcinoma, H... ORPHA:171
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... OMIM:604320
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Heart murmur, S... ORPHA:275766
Familial Partial Lipodystrophy, Dunnigan Type
Thin skin, Abnormality of skeletal muscle fiber size, Pancreatitis, Congestive heart failure, Hep... ORPHA:2348
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Congestive heart failure, Heart murmur ORPHA:3400
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Transudative pleural effusion, Ascites, Abnor... ORPHA:284227
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Citrullinemia Type I
Hepatic failure, Torticollis, Hyperammonemia, Elevated plasma citrulline, Tachypnea ORPHA:247525
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Free Sialic Acid Storage Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Recurrent respiratory infe... ORPHA:834
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Polyhydramnios, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis,... OMIM:617156
Dk1-Cdg
Interstitial cardiac fibrosis, Elevated hepatic transaminase, Dilated cardiomyopathy, Congestive ... ORPHA:91131
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor OMIM:616171
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Polyhydramnios, Cardiomegaly, Persistent fetal circulation, Vent... ORPHA:363705
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... ORPHA:98855
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Tricuspid regurgitation, Skeletal myopathy, Rhabdomyolysis, Lower limb... ORPHA:746
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Congenital Generalized Lipodystrophy
Increased C-peptide level, Cirrhosis, Congestive heart failure, Macroglossia, Hepatic steatosis, ... ORPHA:528
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Multiple Carboxylase Deficiency
Hyperammonemia, Limb muscle weakness, Respiratory distress, Tachypnea ORPHA:148
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Polyhydramnios, Asplenia, Nonimmune hydrops fetalis, Pulmonary art... OMIM:265380
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Respiratory insufficiency, Right bundle branch... ORPHA:1880
Galactosemia
Cirrhosis, Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Postural ... ORPHA:352
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... ORPHA:64739
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Collagenoma, Familial Cutaneous
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... OMIM:115250
Combined Oxidative Phosphorylation Deficiency 20
Respiratory insufficiency, Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomy... OMIM:615917
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... ORPHA:98863
Cirrhosis, Familial
Pulmonary arterial hypertension, Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Hyp... OMIM:215600
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Cirrhosis, Abnormal pulmonary valve morphology, Gastrointestinal... ORPHA:974
Fabry Disease
Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, An... OMIM:301500
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Familial Mediterranean Fever
Pleuritis, Pericarditis, Pleural effusion, Elevated circulating C-reactive protein concentration,... OMIM:249100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... OMIM:221900
Eosinophilic Gastroenteritis
Allergic rhinitis, Asthma, Edema, Elevated circulating C-reactive protein concentration, Ascites,... ORPHA:2070
Hemorrhagic Fever-Renal Syndrome
Hypotension, Elevated hepatic transaminase, Shock, Pleural effusion, Palpitations, Capillary leak... ORPHA:340
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... OMIM:619040
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Rhabdomyolysis, Hepatitis, Jaundice, Respi... ORPHA:509
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Congestive heart failure, Arrhythmia, Cardiomeg... OMIM:266500
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Alpha-Heavy Chain Disease
Ascites, Hypocalcemia, Splenomegaly, Hepatomegaly ORPHA:100025
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... OMIM:616170
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Synophrys, Retinal dystrophy, Abnormal eyelash morphology... ORPHA:1021
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Primary Lipodystrophy
Cirrhosis, Pancreatitis, Hypertension, Congestive heart failure, Angina pectoris, Hepatic steatos... ORPHA:90970
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... OMIM:212138
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypoperistalsis, Hypertension, Pulmonary artery dilatation, Atri... OMIM:613834
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia, Jaundice, Hypoxemia, Oligohydramnios, Hepatospleno... ORPHA:71275
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pleural effus... OMIM:265300
Gorham-Stout Disease
Pleural effusion, Edema, Torticollis, Rhinorrhea ORPHA:73
Wolcott-Rallison Syndrome
Double outlet right ventricle, Abnormality of the liver, Exocrine pancreatic insufficiency, Hyper... ORPHA:1667
Wildervanck Syndrome
Low posterior hairline, Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Choreoathetosis, Elevated hepatic transaminase, Hepatic steatosis, Hypertrop... ORPHA:17
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... OMIM:310600
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Atypical Rett Syndrome
Episodic tachypnea, Abnormal pattern of respiration, Tremor, Dystonia, Sudden episodic apnea, Pil... ORPHA:3095
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Hypercalcemia, Hepatomegaly, Ascites ORPHA:2123
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Joint contracture of the hand, Lymphedema, Pericardial effusion, Pulmo... OMIM:235510
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Cirrhosis, Slender build, ... OMIM:613658
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail... ORPHA:31824
Nocardiosis
Endocarditis, Pneumothorax, Productive cough, Liver abscess, Pleuritis, Respiratory distress, Emp... ORPHA:31204
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels OMIM:617082
Chédiak-Higashi Syndrome
Recurrent respiratory infections, Pericardial effusion, Jaundice, Elevated hepatic transaminase, ... ORPHA:167
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Atrial septal defect, Central apnea OMIM:608629
Pyruvate Dehydrogenase Deficiency
Choreoathetosis, Tremor, Dyspnea, Dystonia, Tachypnea ORPHA:765
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Cednik Syndrome
Congestive heart failure ORPHA:66631
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract OMIM:204200
Rapidly Involuting Congenital Hemangioma