Gene Summary

Name:
dynamin 1-like
Synonyms:
Drp1,  Dnmlp1,  6330417M19Rik,  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 7.65×10-06
abnormal vitreous body morphology Dnm1ltm1b(KOMP)Wtsi HET Early adult 6.81×10-05
persistence of hyaloid vascular system Dnm1ltm1b(KOMP)Wtsi HET Early adult 5.47×10-08
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
abnormal optic disk morphology Dnm1ltm1b(KOMP)Wtsi HET   Early adult 1.34×10-05

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B 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, Optic disc pallor OMIM:610708
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Dystonia, Skeletal muscle atrophy, Abnormality of the mitochondrion ORPHA:330050
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Morning glory anomaly, Cataract, Temporal optic disc pallor 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
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... 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
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... 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, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Red... OMIM:604765
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar... OMIM:612943
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Severely reduced left ventricular ejection frac... OMIM:620635
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Cardiogenic shock, Reduced left ventricular eje... OMIM:613642
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Left ventricular outfl... OMIM:613255
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Respiratory distress, ... ORPHA:2414
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hyperalaninemia, Ascites, Pleural effusion, Hypertrophic cardiomyopathy, Pericardial... OMIM:614702
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:612712
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cirrhotic Cardiomyopathy
Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Left ventricular hype... ORPHA:57777
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Optic Atrophy 2
Optic atrophy OMIM:311050
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Ele... OMIM:608099
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Atrial fibrillation, Hypertrophic cardiomyopathy, Increased left ventri... OMIM:615248
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Coronary Arterial Fistula
Exertional dyspnea, Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aort... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex I, Hyperalaninemia, H... OMIM:618378
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Exertional dyspnea, Bacterial endocarditis, Cardiac myxoma, C... ORPHA:615
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Hydrops fe... ORPHA:45452
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Respiratory distress, Pleural effusion, ... ORPHA:50251
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, ... ORPHA:26793
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Exertional dyspnea, Orthopnea, A... ORPHA:154
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Mitochondrial depl... OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Respiratory distress, Decreased activity of mitochondrial respiratory chain, Decrea... OMIM:614299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... ORPHA:1041
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Restrictive cardiomyopathy, Ascites, Tric... OMIM:619433
Acute Interstitial Pneumonia
Peripheral edema, Atelectasis, Elevated circulating C-reactive protein concentration, Hypertensio... ORPHA:79126
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Elevated circulatin... ORPHA:206546
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Biventricular hypertrophy, Abnormal ventriculoarterial connection, Congesti... ORPHA:860
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Cirrhosis, Polyhydramnios, Hepatomegaly, Elev... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Polyhydramnios, Ragged-red muscle fibers, Increased serum pyruvate, Dec... OMIM:616794
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, El... OMIM:619048
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Exertional dyspnea, Third heart sound, Left ventricular hypertrophy, Rig... ORPHA:99106
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Atransferrinemia
Congestive heart failure OMIM:209300
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Conjugated hyperb... OMIM:269920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Decreased circulating carnitine concent... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Decreased activity of mitoc... OMIM:614096
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Muscle fiber hyaline bodies, Type 1 muscle fiber predominance, Fourth h... OMIM:255160
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Hyperlipidemia, Ascites, Edema, Hypoalbuminemia OMIM:603278
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Congestive heart failure, Myocardial... ORPHA:330001
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas... OMIM:261740
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Respirator... OMIM:212140
Glycogen Storage Disease Iv
Cirrhosis, Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hyperten... OMIM:232500
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Resp... ORPHA:36238
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopa... OMIM:616198
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Combined Oxidative Phosphorylation Deficiency 5
Decreased activity of mitochondrial complex I, Ascites, Hypertrophic cardiomyopathy, Decreased ac... OMIM:611719
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration... ORPHA:178320
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Congenital Enterovirus Infection
Myocarditis, Polyhydramnios, Hydrops fetalis, Respiratory distress, Pleural effusion, Fetal ascit... ORPHA:292
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Dyspnea, Abnormal peritoneum morphology ORPHA:48686
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Avian Influenza
Pneumothorax, Congestive heart failure, Elevated circulating hepatic transaminase concentration, ... ORPHA:454836
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Ragged-red muscle fib... ORPHA:457050
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circula... OMIM:602390
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Dyspnea,... ORPHA:1344
Peripartum Cardiomyopathy
Left atrial enlargement, Exertional dyspnea, Hypertension, Sinus tachycardia, Heart murmur, Left ... ORPHA:563
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Elevated circulating hepatic transaminase ... ORPHA:67
Hereditary Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Limb hypertonia, Cardiomyopathy, Dehydration, ... OMIM:606054
Hsd10 Mitochondrial Disease
Choreoathetosis, Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, A... OMIM:300438
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration... OMIM:616414
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Noonan Syndrome 8
Large for gestational age, Polyhydramnios, Webbed neck, Pleural effusion, Hypertrophic cardiomyop... OMIM:615355
Congenital Tricuspid Stenosis
Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu... ORPHA:95459
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Recurrent lower respiratory tract infect... OMIM:253250
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Azoosper... OMIM:615703
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Increased circul... OMIM:232300
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Exertional dyspnea, Palpitations, ST segment elevation, Increased... ORPHA:263297
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Tachypnea, Muscular ventricular septal defect, Reduced left ventri... OMIM:620203
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy OMIM:615440
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Emphysema, Abnormal heart valve morphology, Pleural effusi... ORPHA:36412
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis OMIM:602248
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Aortic Arch Interruption
Exertional dyspnea, Blood pressure substantially higher in arms than legs, Aortopulmonary window,... ORPHA:2299
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Nasal flarin... ORPHA:70587
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Hepatomegaly, Macrovesicular hepatic st... OMIM:618234
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Abnormal cardiac ventricular function, Dyspnea, Abnormality of the hepatic vasculat... ORPHA:1677
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the cornea, Corneal dyst... OMIM:217800
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Heart block, Elevated circulating hepatic transaminase concentration, Reduced le... ORPHA:542323
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Hemotho... ORPHA:199241
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Hypotension, Pericarditis, Arrhythm... ORPHA:188
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleural effusion, Pericardit... ORPHA:85414
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Sandhoff Disease
Congestive heart failure, Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:796
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Decreased activity of mitochondrial complex I, Hyperalaninemia, Pulmona... OMIM:616045
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Dyspnea, Elevated circulating creatine ... ORPHA:352447
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Webbed neck, Pleural effusion, Ascites, Hypertrophic cardiomyopa... OMIM:616897
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Cholelithiasis, Decreased activity of mitochondrial complex I, Hyperala... OMIM:620646
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Elevated circulating carcinoembryonic antigen concent... ORPHA:264675
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Atrial Septal Defect, Sinus Venosus Type
Exertional dyspnea, Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmi... ORPHA:99105
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Limb hypertonia, Resting tremor, Facial myokymia, Dystonia, Dilated car... ORPHA:324588
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Abnormali... ORPHA:91130
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m... ORPHA:732
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Exertional dyspnea, Elevated creatine kinase after exercise, Limb... ORPHA:352470
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Fixed Subaortic Stenosis
Exertional dyspnea, Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiom... ORPHA:3092
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Bacterial Toxic-Shock Syndrome
Myocarditis, Pneumonia, Tachycardia, Hypocalcemia, Myositis, Capillary leak, Respiratory distress... ORPHA:36234
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Increased serum pyruvate, Hypertension, Dyspn... ORPHA:1349
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Abnormal heart morphology, Tachycardia, Episodic tachypnea ORPHA:79264
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute rhabdomyolysis, Abnormality of masseter muscle, Necrotizing myopathy, Cardiom... ORPHA:423
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Neuraminidase Deficiency
Hydrops fetalis, Hepatomegaly, Cardiomyopathy, Ascites, Skeletal muscle atrophy, Splenomegaly, Ca... OMIM:256550
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:615160
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection... OMIM:263000
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Pleural effus... OMIM:617397
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Jaundice, Cholelithiasis, Pleural effusion, Generalize... ORPHA:846
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c... ORPHA:75565
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen... ORPHA:99901
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Sialidosis Type 2
Hydrops fetalis, Hepatomegaly, Tremor, Dyspnea, Ascites, Flexion contracture, Skeletal muscle atr... ORPHA:87876
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Scap... ORPHA:206569
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydro... OMIM:617021
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Barth Syndrome
Congestive heart failure, Recurrent bronchitis, Hypertrophic cardiomyopathy, Abnormal mitochondri... OMIM:302060
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart m... ORPHA:70472
Double Outlet Right Ventricle
Tachycardia, Hypocalcemia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Tetra... ORPHA:3426
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator... OMIM:620233
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
High Altitude Pulmonary Edema
Pulmonary edema, Dyspnea, Orthopnea, Tachycardia, Tachypnea ORPHA:330012
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Recurrent pneumonia, Recurr... ORPHA:60032
Tetanus
Bradycardia, Respiratory distress, Hypertension, Tremor, Elevated circulating creatine kinase con... ORPHA:3299
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy ORPHA:53296
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall... OMIM:609913
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Respiratory distress, Pleural effusion, Dyspnea, Pericardial effusion, Bronchiectasis ORPHA:411703
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Limb hypertonia, Resting tremor, Facial myokymia, Dystonia, Dilated car... OMIM:606703
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Pulmonary arterial hypertension, Tachypnea, Elevated... OMIM:614857
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Scorpion Envenomation
Prominent U wave, Hypertension, Premature ventricular contraction, Edema, T-wave inversion, Myoca... ORPHA:466677
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop... ORPHA:1194
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Ascites ORPHA:2198
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Hyperuricemia, D... ORPHA:20
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Muscular Dystrophy, Duchenne Type
Hypoventilation, Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Cal... OMIM:310200
Necrotizing Enterocolitis
Bradycardia, Ascites, Hypotension, Hyponatremia, Abnormal heart morphology, Apnea, Peritonitis, E... ORPHA:391673
Pulmonary Arteriovenous Malformation
Ischemic stroke, Myocardial infarction, Liver abscess, Bacterial endocarditis, Pleural empyema, T... ORPHA:2038
Hepatic Veno-Occlusive Disease
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased body w... ORPHA:890
Lymphatic Malformation 7
Pulmonary edema, Atrial septal defect, Respiratory distress, Chylothorax, Lymphedema, Pleural eff... OMIM:617300
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Abnormal left ventricular function, Hepa... ORPHA:781
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Pulmonary Alveolar Microlithiasis
Pneumothorax, Peripheral edema, Pleural thickening, Hepatomegaly, Exertional dyspnea, Bronchitis,... ORPHA:60025
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Mitochondri... OMIM:602541
Congenital Heart Defects, Multiple Types, 2
Congestive heart failure, Aortic regurgitation, Atrial fibrillation, Left ventricular outflow tra... OMIM:614980
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c... ORPHA:85451
Cocaine Intoxication
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Supraven... ORPHA:90068
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension OMIM:613320
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Elevated circulating alanine aminotransferase concentration, Hyperammon... OMIM:620609
Congenital Toxoplasmosis
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Cardiom... ORPHA:858
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Anasarca, Hypertension, Hyperlipidemia, Ascites, Pleural effusion, Dyspnea, Resp... ORPHA:567546
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Edema, Tachypnea OMIM:267450
Cone-Rod Dystrophy, X-Linked, 3
Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab... OMIM:300476
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Dyspnea, Ascites, Polycystic liver disease OMIM:174050
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Elevated circulating hepatic transaminase concentratio... OMIM:609015
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Dyspnea, Arrhythmia, Splenom... ORPHA:3386
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ... OMIM:619487
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Classic Multiminicore Myopathy
Muscular dystrophy, Congestive heart failure, Nocturnal hypoventilation, Weakness of facial muscu... ORPHA:324604
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Malignant Atrophic Papulosis
Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Abnormal pericardium m... ORPHA:679
Tularemia
Pneumonia, Respiratory distress, Pleural effusion, Tachycardia ORPHA:3392
Ethylene Glycol Poisoning
Hyperkalemia, Pulmonary edema, Congestive heart failure, Prolonged QT interval, Hypocalcemia, Atr... ORPHA:31826
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Ascites, Dyspnea, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dila... ORPHA:99103
Eisenmenger Syndrome
Exertional dyspnea, Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morpholog... ORPHA:97214
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject... ORPHA:444013
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Atelectasis, Respiratory distress, Elevated bronchoalveolar lavage fluid ly... OMIM:610978
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal hemidiaphragm morphology, Dextrocardia, Tachypnea, Secundum atrial septal ... ORPHA:2257
Histiocytoid Cardiomyopathy
Pulmonary edema, Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Hepato... ORPHA:137675
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypertension, Cholestasis, Ascites, Anasarca, Hepatic steatosis, Oligohydra... OMIM:619573
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular... OMIM:611126
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Anasarca, Polyhydramnios, Hypocalcemia, Pleural effusion, Ascites, Hyponatr... OMIM:618183
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pleuritis, Ascites, Camptodactyly of toe, Pericarditis, Camptodactyly of finger, Mitral valve pro... ORPHA:2848
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Secondary Intestinal Lymphangiectasia
Anasarca, Cirrhosis, Intestinal lymphedema, Decreased circulating prealbumin concentration, Lymph... ORPHA:90363
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Elevated circulating tetradecanoylcarnitine concentration, Elevated cir... OMIM:619355
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Congenital Sialidosis Type 2
Hepatomegaly, Ascites, Abnormal heart morphology, Respiratory tract infection, Hepatosplenomegaly... ORPHA:93400
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating... ORPHA:64743
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Plantar flexion contracture, Abnormal heart morphology, Episodic tachypnea, Small hy... ORPHA:2872
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Microvesicular hep... OMIM:610198
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Pericarditis, Pulmonary fibrosis, Pneumonia, Endocarditis ORPHA:449280
Erdheim-Chester Disease
Congestive heart failure, Abnormal pulmonary interstitial morphology, Abnormal aortic valve morph... ORPHA:35687
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Dyspnea, Bronchiectasis, Intracranial ... ORPHA:1163
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypocalcemia, Hypoproteinemia, Pleural effusion, Ascites, Generalized edema,... ORPHA:90362
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase... OMIM:616866
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Elevated... ORPHA:52430
Capillary Malformation-Arteriovenous Malformation
Congestive heart failure, Abnormality of the musculature of the limbs, Chylothorax, Lymphedema, C... ORPHA:137667
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Cholestasis, As... OMIM:608104
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Cholera
Hypokalemia, Tachycardia, Hypocalcemia, Dehydration, Hypotension, Aspiration pneumonia, Hypovolem... ORPHA:173
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Predominantly lower limb lymphedema, Azoospermia, Camptodactyly of fing... ORPHA:261519
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Polyhydramnios, Hepatomegaly, Pericarditis, Splenomega... ORPHA:163596
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic tr... ORPHA:26791
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormalit... ORPHA:79083
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Myositis, Tachypnea, Skeletal muscle atrop... OMIM:615934
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Facial hypotonia, Decreased muscle mass, Atrial septal ... ORPHA:500533
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Hypertension, Dehydration, Hypotension, Hyperammonemia, Edema, Tachy... ORPHA:134
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Periportal fibro... OMIM:251880
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia... OMIM:610913
Optic Atrophy 14
Optic disc pallor OMIM:620550
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Hyperbilirubinemia, Ascites,... ORPHA:464321
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic... ORPHA:3260
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pleural effusion, Abnormal spleen morphology, Dyspnea, Pericardial effusion,... ORPHA:464329
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Mitochondrial Complex I Deficiency, Nuclear Type 29
Palpitations, Decreased activity of mitochondrial complex I, Hyperalaninemia, Dyspnea, Hypertroph... OMIM:618250
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Flexion contracture, Skeletal muscle atrophy, Arrhythmia, Myopathy ORPHA:157973
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Recurrent lower respiratory tract infections, Hypoproteinemia, Ascites, Budd-Chiari... OMIM:226300
Dk1-Cdg
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Cardiomyocyte ... ORPHA:91131
Noonan Syndrome 10
Webbed neck, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuchal translucency, Pulmon... OMIM:616564
Lymphoproliferative Syndrome 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleural effusion, Pericardia... OMIM:613011
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Hypoproteinemia, Hypotension, Ascites, Epistaxis, Cere... ORPHA:99828
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema... ORPHA:171
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Hypoplasia of the diaphragm, Abn... ORPHA:185
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract, Optic disc pallor OMIM:616732
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial septal defect, Ve... ORPHA:49827
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hydrops fetalis, Hepatomegaly, Ascites, Pericardial effusion, Splenomegaly,... OMIM:608776
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Palpitations, Dyspnea, Pulmonary ar... ORPHA:275766
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Ventricular hypertrophy, Congestive heart failure, Heart murmur ORPHA:3400
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Cirrhosis, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Symptomatic Form Of Hfe-Related Hemochromatosis
Congestive heart failure, Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly,... ORPHA:465508
Lymphatic Malformation 6
Atrial septal defect, Polyhydramnios, Webbed neck, Genital edema, Chylothorax, Lymphedema, Pleura... OMIM:616843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pallor OMIM:616171
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure, Camptodactyly, Respiratory distress OMIM:619751
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Athetosis, Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdomi... ORPHA:834
Serotonin Syndrome
Tremor, Hypertension, Hypotension, Rhabdomyolysis, Tachycardia, Tachypnea, Hepatic failure ORPHA:43116
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Pancreatitis, Abnormality of skelet... ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:301045
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Ascites, Splenomegaly, Oligohydramnios, Aplasia/Hypoplasia of the lungs ORPHA:1046
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weaknes... ORPHA:98855
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Pleural effusion, Ascites, Elevated circulating alanine aminotransferase con... OMIM:617049
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Decreased activity of mitochondrial complex III, Elevated circulating acylcarnit... OMIM:615838
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemi... OMIM:620085
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Skeletal muscle hypertro... ORPHA:528
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive... ORPHA:97292
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Gastrointestinal hemorrhage, Polyhydramnios, Congestive heart failure, Car... ORPHA:363705
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Absence Of The Pulmonary Artery
Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale... ORPHA:980
Poems Syndrome
Hepatomegaly, Pleural effusion, Ascites, Pulmonary arterial hypertension, Visceromegaly, Pericard... ORPHA:2905
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascu... OMIM:221900
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Shallow anterior chamber, Chorioretinal coloboma, Optic disc coloboma, Flat cornea, ... OMIM:602499
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy OMIM:309555
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Respiratory distress, Chylothorax, Nemaline bodies, Jo... OMIM:620278
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Citrullinemia Type I
Elevated plasma citrulline, Torticollis, Hyperammonemia, Tachypnea, Hepatic failure ORPHA:247525
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuricemia, Respiratory... ORPHA:348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Polyhydramnios, Elevated circulating hepatic transaminase co... OMIM:617156
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Dyspnea, Pulmonary arterial hypertension, Apnea, Interlo... OMIM:265120
Myofibrillar Myopathy 10
Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Percussion myotonia,... OMIM:619040
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weaknes... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weaknes... ORPHA:98853
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Collagenoma, Familial Cutaneous
Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card... OMIM:115250
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Elevated circulating phytanic aci... OMIM:266500
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... OMIM:613581
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Babesiosis
Congestive heart failure, Hepatomegaly, Jaundice, Recurrent pharyngitis, Splenomegaly, Myocardial... ORPHA:108
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Ascites ORPHA:100025
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Pulmonary artery atresia, Ascites, Portal hypertension, P... ORPHA:974
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Cone/cone-rod dystrophy... ORPHA:1021
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Abnormal mitochondrial shape, Decreased ... ORPHA:17
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Vasculitis, Pleural effusion... ORPHA:33226
Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Hypoperistalsis, Tachypnea, ... OMIM:613834
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Exertional dyspnea, Increased pulmonary vascular resistance, Elevated c... ORPHA:70591
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleuritis, Pleural effusion,... OMIM:249100
Wolcott-Rallison Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Hyperbilirubinem... ORPHA:1667
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Capillary leak, Pleural effusion, Ascites, Hypovolemia, Generalized edema, Perip... ORPHA:64739
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Leptospirosis
Hepatomegaly, Jaundice, Respiratory distress, Pleural effusion, Hypotension, Retinal hemorrhage, ... ORPHA:509
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary ... OMIM:265380
Congenital Myopathy 22B, Severe Fetal
Polyhydramnios, Hepatomegaly, Respiratory distress, Shoulder flexion contracture, Hypoplasia of t... OMIM:620369
Congenital Disorder Of Glycosylation, Type Iaa
Attenuation of retinal blood vessels, Hypertrichosis, Optic disc pallor OMIM:617082
Friedreich Ataxia
Congestive heart failure, Decreased pyruvate carboxylase activity, Hypertrophic cardiomyopathy, M... OMIM:229300
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm... ORPHA:85446
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Cataract, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Cirrhosis, Familial
Cirrhosis, Increased level of propylene glycol in blood, Jaundice, Fulminant hepatitis, Hypertens... OMIM:215600
Cednik Syndrome
Congestive heart failure ORPHA:66631
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Abnormal mitochondrial morphology, Lower li... ORPHA:99013
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Recurrent respiratory infections, Chylothorax, Lymphedema, Pleur... OMIM:265300
Hyperkalemic Periodic Paralysis
Hyperkalemia, Congestive heart failure, Hypokalemia, Skeletal muscle hypertrophy, Elevated circul... ORPHA:682
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Myotonia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weaknes... ORPHA:98863
Pontocerebellar Hypoplasia, Type 13
Edema, Recurrent respiratory infections, Pleural effusion, Decreased liver function OMIM:618606
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Pleural lymphangiectasia, Lymphedema, Pleural effusion, Camptodacty... OMIM:235510
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Ascites, Intracranial he... ORPHA:284227
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased number of peripheral myelin... OMIM:609260
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphyse... OMIM:610921
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:615895
Diffuse Neonatal Hemangiomatosis