Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
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
persistence of hyaloid vascular system Dnm1ltm1b(KOMP)Wtsi HET Early adult 2.40×10-07
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
preweaning lethality, complete penetrance Dnm1ltm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 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, Tremor, Abnormality of the mitochondrion, Skeletal muscle atrophy, Dystonia ORPHA:330050
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Morning glory anomaly, Temporal optic disc pallor, Cataract ORPHA:98673
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic atrophy, Optic disc pallor 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
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol... OMIM:607482
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter... OMIM:615396
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Chronic pulmonary obstruction, Tricuspid re... ORPHA:2414
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular outflow tract o... OMIM:613255
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul... OMIM:235200
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy OMIM:616170
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal respiratory system physiology, Abnormal pleura morph... ORPHA:50251
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Optic Atrophy 2
Optic atrophy OMIM:311050
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Ventricular tachycardia, Right bundle branch block, H... OMIM:613251
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:615248
Optic Atrophy 5
Optic atrophy OMIM:610708
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Acute Interstitial Pneumonia
Interlobular septal thickening, Elevated circulating C-reactive protein concentration, Subpleural... ORPHA:79126
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Polyhydramnios, Ragged-red muscle fibers, Decreased activity of mitocho... OMIM:616794
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Microcornea, Ir... ORPHA:231736
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal muscle glycogen content, Decreased liver function, Hepatomegaly, F... ORPHA:367
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Increased circulating f... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatomegaly, Left ventricular hypertrophy, Hyperalaninemia, Elevated circulating aspartat... OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Rig... OMIM:115197
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... ORPHA:99106
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Respiratory insufficiency, Abnormal mitochondrial morphology, Dec... OMIM:618378
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproduc... ORPHA:36238
Myopathy, Myosin Storage, Autosomal Recessive
Right bundle branch block, Scapuloperoneal amyotrophy, Muscle fiber hyaline bodies, Right axis de... OMIM:255160
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Acute Lung Injury
Respiratory distress, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:178320
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Hemosiderin-laden ma... OMIM:616414
Atransferrinemia
Congestive heart failure OMIM:209300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Respiratory arrest, Periportal fibrosis, Hyperammonemia, S... OMIM:201475
Klippel-Trénaunay Syndrome
Atrial septal defect, Hepatomegaly, Tall stature, Respiratory insufficiency, Hydrops fetalis, Pul... ORPHA:90308
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Conjugated hyperbilirubinemia, Ascites, Cardiomegaly... OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Tachypnea, Aortic regurgitation, Decreas... OMIM:616501
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproduc... ORPHA:454836
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, ... ORPHA:330001
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Proximal muscle weakness in lower limbs, Weakness of facial muscu... ORPHA:457050
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... ORPHA:563
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... OMIM:616394
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy OMIM:617087
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Cough, Elevated hepa... ORPHA:67
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Congenital Enterovirus Infection
Respiratory distress, Hyperammonemia, Hepatic failure, Hydrops fetalis, Myocarditis, Hypotension,... ORPHA:292
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy ORPHA:2572
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Right axis devia... OMIM:232300
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Arrhythmia, ... OMIM:602390
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Tachycardia, Elevated carcinoembryonic anti... ORPHA:264675
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Hepatomegaly, Splenomegaly, Cough, Angioedema, Pericardial effusion, Restrict... ORPHA:36412
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... OMIM:613313
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Cough, Hypotension, Pedal edema, Rhinorrh... ORPHA:188
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, Myopathy, Congestive... OMIM:618234
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion OMIM:602248
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Oligospermia, Decreased HDL cholesterol concentration, M... OMIM:615703
Hsd10 Mitochondrial Disease
Choreoathetosis, Abnormal mitochondrial morphology, Elevated circulating tiglylglycine concentrat... OMIM:300438
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Elevated he... ORPHA:542323
Propionic Acidemia
Apnea, Hepatomegaly, Pancreatitis, Cerebellar hemorrhage, Hyperammonemia, Dehydration, Limb hyper... OMIM:606054
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Recurrent lower res... OMIM:253250
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory tract infection... ORPHA:70587
Cataract 21, Multiple Types
Retinal detachment, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Increased mitochondrial number, Shoulder girdle muscle weakness, EMG: myop... ORPHA:263297
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Elevated circulating creatine kinase concentration, Arrhythmia, R... ORPHA:352447
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly... ORPHA:85414
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema, Hypertrophic cardiomyopathy OMIM:611719
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Portal hy... OMIM:232500
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary arte... OMIM:612387
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Reduced left ventricular ejection fraction, Holosystolic murmur, Paroxysmal atrial ... ORPHA:1677
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Central sleep apnea, Hepatic steatosis, Decre... ORPHA:70472
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... OMIM:605676
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anomaly, Optic disc colob... OMIM:120200
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Multiple joint contractures, Elevated creatine kinase after exercise, Limb-girdle ... ORPHA:352470
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Congestive heart failure, Achilles tendon contracture, Flexion contractur... OMIM:310200
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Secundum atrial septal defect, Cerebral hemorrhage, Hepatome... OMIM:617397
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Endocardial fibroelastosis, Decreas... OMIM:212140
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Bive... OMIM:261740
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Ma... OMIM:604393
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating C-reactive protein concentration, Acute hepatic failure, Pulmo... OMIM:619644
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Respiratory ins... ORPHA:732
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:601494
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Sandhoff Disease
Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Congestive heart failure ORPHA:796
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Increased circulating surfactant protein level, Pneumothorax, Respiratory failure, ... ORPHA:60025
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hypertrophic cardiomyopathy, Hydrops fetalis, Ventricular septal defect, Pol... OMIM:616897
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, ... ORPHA:225
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Hypocalcemia, Peritonitis, Tachycardia, Elevated circulating cre... ORPHA:36234
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Abnormality of the mitochondrion, Hype... ORPHA:91130
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Increased body ... ORPHA:890
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Hepatomegaly, Flexion contracture, Hypertrophic cardiomyopat... ORPHA:1194
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Necrotizing Enterocolitis
Apnea, Peritonitis, Hypotension, Shock, Bradycardia, Edema, Hyponatremia, Ascites, Abnormal heart... ORPHA:391673
Neuraminidase Deficiency
Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Skeletal muscle atrophy, Card... OMIM:256550
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Episodic tachypnea, Atrial septal defect, Hyperammonemia, Increased ser... OMIM:615160
Tetanus
Respiratory distress, Opisthotonus, Tachycardia, Elevated circulating creatine kinase concentrati... ORPHA:3299
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... ORPHA:75565
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... ORPHA:99095
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Scedosporiosis
Sinusitis, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchitis, Respiratory failure, Pneu... ORPHA:449280
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Atrial septal defect, Hypoxemia, C... OMIM:610978
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Ragged-red muscle fibers, Dilated cardiomyopathy, Dyspnea, Hypertrophic... ORPHA:1349
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Astigmatism, Retinal pigment epithelial atrophy, Peripapil... OMIM:616188
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abnormal pericardium morphology, Peritonitis, Myocardial infarction, ... ORPHA:679
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Respiratory insufficiency, Hydr... OMIM:609015
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... ORPHA:2038
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Tachycardia, Abnormal heart morphology ORPHA:79264
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Scorpion Envenomation
Elevated circulating aspartate aminotransferase concentration, Myocarditis, Tremor, Bundle branch... ORPHA:466677
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, Hyperammonemia, Elevated... ORPHA:99901
Double Outlet Right Ventricle
Double outlet right ventricle, Hypocalcemia, Hypoplastic left heart, Pulmonic stenosis, Tachycard... ORPHA:3426
Sialidosis Type 2
Hepatomegaly, Flexion contracture, Splenomegaly, Hydrops fetalis, Tremor, Pedal edema, Dyspnea, A... ORPHA:87876
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy OMIM:616389
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, T... OMIM:614857
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Aspergillosis
Asthma, Sinusitis, Chronic pulmonary obstruction, Hypersensitivity pneumonitis, Intracranial hemo... ORPHA:1163
Familial Cutaneous Collagenoma
Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Retinitis Pigmentosa 62
Optic disc pallor, Rod-cone dystrophy OMIM:614181
Cocaine Intoxication
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Tremor, Myocardial in... ORPHA:90068
Familial Dyskinesia And Facial Myokymia
Resting tremor, Limb hypertonia, Facial myokymia, Dilated cardiomyopathy, Dystonia, Congestive he... ORPHA:324588
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Primary Pulmonary Hypoplasia
Apnea, Asthma, Secundum atrial septal defect, Hypoxemia, Tachypnea, Dextrocardia, Abnormal hemidi... ORPHA:2257
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Tachypnea OMIM:613320
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... OMIM:617047
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy, Interstitial pneumonitis, Intraalveolar phospholipid accumulation,... ORPHA:217563
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Q Fever
Respiratory distress, Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplen... ORPHA:781
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Barth Syndrome
Tricuspid regurgitation, Arrhythmia, Abnormal mitochondrial morphology, Increased left ventricula... OMIM:302060
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Hypertrophic cardiomyopathy, Left ... ORPHA:444013
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Ascites, Hepatomegaly ORPHA:2198
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Optic Atrophy 6
Optic atrophy OMIM:258500
Desminopathy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Concentric hypertr... ORPHA:98909
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Eisenmenger Syndrome
Respiratory distress, Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Elevated circul... ORPHA:97214
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Achalasia, Arrhythmia, Myocarditis, Cough, Edema, Periorbital edema, ... ORPHA:3386
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Hyperammonemia, Dehydration, Hy... ORPHA:20
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... ORPHA:85451
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Lower limb hypertonia, Left ventricular hypertrophy, Hepatosplenomegaly, Acute panc... OMIM:619487
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Dyspnea, Increased total bilirubin, Ascites OMIM:174050
Tularemia
Respiratory distress, Tachycardia, Cough, Pleural effusion, Pneumonia ORPHA:3392
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrhosis, Splenomegaly, ... OMIM:251880
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Hypocalcemia, Facial palsy, Tachycardia, Hyperkal... ORPHA:31826
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Respira... ORPHA:567546
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, Myopathy, Co... ORPHA:157973
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, EMG: myopathic abnormalities, Rimmed vacuoles, Increased vari... ORPHA:52430
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Skeletal muscle atrophy, Respirat... ORPHA:26791
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
Congenital Toxoplasmosis
Hepatomegaly, Elevated hepatic transaminase, Ascites, Jaundice, Cardiomegaly ORPHA:858
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Dengue Fever
Hepatomegaly, Cerebral hemorrhage, Hypoproteinemia, Hypotension, Cardiorespiratory arrest, Gastro... ORPHA:99828
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Myositis, Edema, Pleural effusion, Dyspnea, Ascites, Pericardial effusion ORPHA:93552
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Hip contracture, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Cent... ORPHA:464321
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Pulmonary e... ORPHA:137675
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Facial myokymia, Dilated cardiomyopathy, Choreoathetosis, Dyston... OMIM:606703
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Polyhydramnios, Hypertriglyceridemia, Anasarca, Pleur... OMIM:618183
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Reduced circulating transferrin concentration, Cirrhosis, Chylous ascites, R... ORPHA:90363
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Atrioventricular canal defec... OMIM:619573
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Nonproductive cough, Crackles, Whe... ORPHA:2902
Congenital Sialidosis Type 2
Hepatomegaly, Hepatosplenomegaly, Abnormal EKG, Edema, Respiratory tract infection, Telangiectasi... ORPHA:93400
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Aspiration pneumonia, Dehydration, Tachycardia, Hyp... ORPHA:173
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Episodic tachypnea, Small hypothenar eminence, Plantar flexion contractures, Contrac... ORPHA:2872
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Chylothorax, Abnormality of the musculature of the limbs, N... ORPHA:137667
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Pla... ORPHA:69735
Erdheim-Chester Disease
Joint swelling, Abnormal pericardium morphology, Abnormal aortic valve morphology, Abnormal pulmo... ORPHA:35687
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Hypoalbuminemia, Edema, ... OMIM:226300
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Conge... ORPHA:163596
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperammonemia, Dehydration, Hypotension, Cough, Tachypnea, Edema, Hyperuricemia, H... ORPHA:134
Salih Myopathy
Flexion contracture, Mitochondrial depletion, Calf muscle hypertrophy, Elevated circulating creat... OMIM:611705
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Dilated cardiom... OMIM:611126
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Flexion contracture, Hepatic failure, Camptodactyly of finge... ORPHA:261519
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Oligohy... ORPHA:1046
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Portal f... ORPHA:3260
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
African Iron Overload
Increased circulating ferritin concentration, Abnormal heart morphology, Abnormal pancreas morpho... ORPHA:139507
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Follicular Lymphoma
Abnormality of the peritoneum, Lymphedema, Pleural effusion, Splenomegaly ORPHA:545
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Respiratory insufficiency, Cough, Myocardial infarct... ORPHA:108
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Hypoproteinemia, Hypoalbuminemia, Edema, Pleur... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cholestasis, Camptodactyly, Elevated circulating creatini... OMIM:608104
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Left ventricular hypertrophy, Increased serum pyruvate, Hyperglutaminemia, Eleva... OMIM:619355
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Facial hypotonia, Hepatomegaly, Macroglossia, Hypertrophic cardiomyopathy, ... ORPHA:308552
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... ORPHA:171
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Epidural hemorrha... ORPHA:464329
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhosis, Calf muscle pse... ORPHA:79083
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial... OMIM:608776
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Dilated cardiomyopathy, Noncompaction car... OMIM:610198
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated alpha-fetoprotein, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis... OMIM:617049
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral re... OMIM:616564
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Myositis, Tachypnea, S... OMIM:615934
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... OMIM:193230
Poems Syndrome
Pulmonary arterial hypertension, Visceromegaly, Edema, Restrictive ventilatory defect, Pleural ef... ORPHA:2905
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Joint swelling, Cholangiocarcinoma, Hepatomegaly, D... ORPHA:465508
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:612572
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Truncus Arteriosus
Ventricular septal defect, Pulmonary hypoplasia, Cardiomegaly, Abnormal heart morphology, Tachyca... ORPHA:3384
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Reduced vital capacity, Right bundle branc... ORPHA:70591
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Serotonin Syndrome
Hepatic failure, Tachycardia, Hypotension, Tachypnea, Tremor, Rhabdomyolysis, Hypertension ORPHA:43116
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Pontocerebellar Hypoplasia, Type 13
Asthma, Sleep apnea, Decreased liver function, Edema, Pleural effusion, Recurrent respiratory inf... OMIM:618606
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Hepatomegaly, Tachycardia, Apneic episodes in infancy, ... ORPHA:348
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Optic Atrophy 9
Optic atrophy OMIM:616289
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Pedal edema, Pulmonary hypoplasia, Red... ORPHA:980
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Tachypnea, Abnormal circulating creatine kinase... OMIM:615838
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormal pulmonary interstitial morphology, Biliary tract ... ORPHA:77259
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Atrial septal defect, Splenomegaly, Nonimmune hydrops f... OMIM:616843
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Tra... ORPHA:284227
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure OMIM:619751
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, C... ORPHA:49827
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Retinal hemorrhage, Vasculitis, Pedal edem... ORPHA:33226
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Splenoportal Vascular Anomalies
Hyperammonemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Right ventr... ORPHA:100085
Citrullinemia Type I
Torticollis, Hepatic failure, Hyperammonemia, Tachypnea, Elevated plasma citrulline ORPHA:247525
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... ORPHA:488650
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal mu... ORPHA:2348
Dk1-Cdg
Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Elevated hepatic transamina... ORPHA:91131
Cirrhosis, Familial
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Increased level of propylene glycol in bl... OMIM:215600
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Scimitar Syndrome
Respiratory distress, Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Galactosemia
Action tremor, Hepatomegaly, Hepatic failure, Cirrhosis, Increased level of galactitol in plasma,... ORPHA:352
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Diaphragmatic eventration, Camptodactyly of finger, Tachypnea, Spinal muscular atrophy, Distal am... OMIM:604320
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Tricuspid regurgitation, Left ventricular hypertrophy, Respiratory insufficiency, M... ORPHA:746
Congenital Generalized Lipodystrophy
Hepatomegaly, Macroglossia, Proportionate tall stature, Skeletal muscle hypertrophy, Increased C-... ORPHA:528
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis... ORPHA:834
Fabry Disease
Angina pectoris, Airway obstruction, Left ventricular hypertrophy, Arrhythmia, Myocardial infarct... OMIM:301500
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... ORPHA:64739
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... OMIM:265380
Cholesterol Pneumonia
Cough, Pneumonia, Tachypnea OMIM:215030
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Hyperkalemic Periodic Paralysis
Hypokalemia, Flexion contracture, Skeletal muscle hypertrophy, Respiratory insufficiency, Elevate... ORPHA:682
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Cirrhosis, Tetralogy of Fallot, Pulmonary artery atresia, Co... ORPHA:974
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Lowe... ORPHA:363705
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology ORPHA:65
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Respirator... ORPHA:1880
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Multiple Carboxylase Deficiency
Respiratory distress, Limb muscle weakness, Hyperammonemia, Tachypnea ORPHA:148
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Heart murmur, Congestive heart failure, Abnormal heart valve morphology ORPHA:3400
Refsum Disease, Classic
Arrhythmia, Elevated levels of phytanic acid, Limb muscle weakness, Cardiomyopathy, Cardiomegaly,... OMIM:266500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Decreased activity of the pyruvate dehydrogenase complex, Hyper... OMIM:616277
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Elevated circulating creatinine concentration, Pneumonia, Respirato... ORPHA:340
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... ORPHA:206549
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Camos Syndrome
Optic atrophy ORPHA:83472
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid... OMIM:249100
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Hematochezia, Allergic rhinitis, H... ORPHA:2070
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Pneumocystosis
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Leptospirosis
Respiratory distress, Hepatomegaly, Pulmonary hemorrhage, Hyperproteinemia, Arrhythmia, Retinal h... ORPHA:509
Amaurosis-Hypertrichosis Syndrome
Thick eyebrow, Coarse hair, Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Abnormal e... ORPHA:1021
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Primary Lipodystrophy
Angina pectoris, Hyperlipidemia, Pancreatitis, Splenomegaly, Skeletal muscle hypertrophy, Cirrhos... ORPHA:90970
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevat... OMIM:619040
Rh Deficiency Syndrome
Hyperbilirubinemia, Hepatosplenomegaly, Tachycardia, Tachypnea, Reduced haptoglobin level, Hypoxe... ORPHA:71275
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Ascites OMIM:600461
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Weakness of facial musculature, Abnormal activity of mitochondrial respirat... OMIM:619967
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevate... OMIM:212138
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:610773
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Tachypnea, Hypoperistalsis, Pulmonary artery dilatation, Hypertension, Pulm... OMIM:613834
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Alpha-Heavy Chain Disease
Hypocalcemia, Ascites, Hepatomegaly, Splenomegaly ORPHA:100025
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Hypercalcemia, Ascites ORPHA:2123
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Gorham-Stout Disease
Edema, Rhinorrhea, Pleural effusion, Torticollis ORPHA:73
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Atypical Rett Syndrome
Episodic tachypnea, Pill-rolling tremor, Tremor, Abnormal pattern of respiration, Sudden episodic... ORPHA:3095
Colchicine Poisoning
Respiratory distress, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, D... ORPHA:31824
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Pleural effusion, Hypertension, Jaundice, Pericardial effusion OMIM:108050
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Decreased liver function, Jaundice, Hypoproteinemia... ORPHA:167
Nocardiosis
Respiratory distress, Nonproductive cough, Peritonitis, Endocarditis, Liver abscess, Pleuritis, P... ORPHA:31204
Retinohepatoendocrinologic Syndrome
Optic disc pallor, Cone dystrophy OMIM:268040
Wildervanck Syndrome
Facial palsy, Lens subluxation, Pseudopapilledema, Low posterior hairline ORPHA:3456
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Hepatomeg... ORPHA:1667
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Cednik Syndrome
Congestive heart failure ORPHA:66631
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Ascites, Hypercalcemia OMIM:240150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Hepatomegaly, Increased variability in muscle fiber diameter, Skelet... ORPHA:17
Joubert Syndrome 3
Neonatal breathing dysregulation, Atrial septal defect, Episodic tachypnea, Central apnea OMIM:608629
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Abnormal EKG, Hypertrophic cardiomyopathy, Congestive he... OMIM:229300
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Elevated hepatic transaminase, Pleural effusio... ORPHA:244242
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Optic atrophy, Cataract OMIM:204200
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Spide... ORPHA:2137
Pyruvate Dehydrogenase Deficiency
Tachypnea, Tremor, Choreoathetosis, Dyspnea, Dystonia ORPHA:765
Merrf
Optic atrophy ORPHA:551
Gm1-Gangliosidosis, Type I