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Gene: Topors MGI:2146189

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Gene Summary

Name:
topoisomerase I binding, arginine/serine-rich
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Toporsem1(IMPC)J HOM Early adult 0.00
corneal opacity Toporsem1(IMPC)J HOM   Early adult 5.13×10-05
decreased heart weight Toporsem1(IMPC)J HOM Early adult 5.12×10-06
abnormal auditory brainstem response Toporsem1(IMPC)J HOM   Early adult 5.27×10-05
increased circulating alkaline phosphatase level Toporsem1(IMPC)J HOM Early adult 1.85×10-10
increased vertical activity Toporsem1(IMPC)J HOM Early adult 6.74×10-05
decreased heart rate Toporsem1(IMPC)J HOM Early adult 1.36×10-05
decreased erythrocyte cell number Toporsem1(IMPC)J HOM Early adult 1.16×10-06
prolonged RR interval Toporsem1(IMPC)J HOM Early adult 2.29×10-07
decreased hematocrit Toporsem1(IMPC)J HOM Early adult 5.81×10-05
increased circulating glucose level Toporsem1(IMPC)J HOM Early adult 1.67×10-07
decreased circulating serum albumin level Toporsem1(IMPC)J HOM Early adult 1.38×10-06
decreased lean body mass Toporsem1(IMPC)J HOM Early adult 0.00
decreased circulating total protein level Toporsem1(IMPC)J HOM Early adult 3.49×10-05
female infertility Toporsem1(IMPC)J HOM Early adult 0.00
hyperactivity Toporsem1(IMPC)J HOM Early adult 4.16×10-18
decreased bone mineral content Toporsem1(IMPC)J HOM Early adult 7.33×10-15
prolonged QT interval Toporsem1(IMPC)J HOM   Early adult 3.08×10-06

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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 Skull Lateral Orientation

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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Eye Morphology

Images Ophthalmoscopy

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Forepaw

3 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

3 Images

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Human diseases caused by Topors 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 Topors by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Conductive hearing impairment, Hypogo... ORPHA:791
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Failure to thrive, Low-set, posteriorly rotated ears, Abnormal hea... ORPHA:2754
Retinitis Pigmentosa 31
OMIM:609923

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Congenital sensorineural hearing impairment, Syncope, Prolonged QT interval, ... OMIM:220400
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... ORPHA:57777
Sinoatrial Node Dysfunction And Deafness
Hearing impairment, Abnormal QRS complex, Syncope, Bradycardia, Increased heart rate variability OMIM:614896
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hypo... ORPHA:26793
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick ... OMIM:617182
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Failure t... OMIM:618805
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve... OMIM:601005
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic ... OMIM:610198
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic ... ORPHA:101016
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Weight loss, Hypochromic microcytic anemia, Anorexi... ORPHA:2494
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Profound sensorineural hearing impairment, Arrhythmia, Syncope, Iron deficien... ORPHA:90647
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc... OMIM:267700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... OMIM:613752
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, EEG abnormality, Developmental ... OMIM:618815
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Decreased pla... OMIM:619048
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Mildly elevated creatine kinase, Bradycardia OMIM:620265
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Splenomegaly, Hypertriglycer... OMIM:613327
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... OMIM:612347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Cataract, Joint contracture, Elevated circulating creatine kinase concentr... OMIM:615351
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancy... ORPHA:398124
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly ORPHA:88643
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Delayed mena... ORPHA:247585
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Pulmonary embolism, Budd-Chiari syndrome, Iron deficiency anemia, Thrombocytosis... OMIM:226300
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thriv... OMIM:616050
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Drug-Induced Lupus Erythematosus
Pericardial effusion, Elevated circulating creatine kinase concentration, Increased blood urea ni... ORPHA:231111
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Card... OMIM:614702
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Steppage gait, Hypercholesterolemia, ... OMIM:607250
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Abnormal cardiac ventricle mor... ORPHA:85443
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytopenia, Cerebral hemor... ORPHA:99828
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity, Bradycardia OMIM:609924
Diarrhea 13
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Leukocytosis, Cerebral ische... ORPHA:90065
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Aggressive behavior, Hypsarrhythmia, Flexion contracture, Hypoproteinemia OMIM:608093
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Muscular... ORPHA:66634
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Cardiomyopathy, Progressive hearing impairment, Hypogonadism, Arrhythmia, Gait disturba... OMIM:609286
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, ... ORPHA:324575
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocy... OMIM:209950
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dysp... OMIM:616276
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Ventricula... ORPHA:36913
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Hyper... OMIM:212138
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat... ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Optic atrophy, Oral-pharyngeal dysphagia, Hypog... OMIM:616878
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight l... ORPHA:507
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Pericardial effusion, Hypocalcemia, Reduced proport... ORPHA:90362
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Optic atrophy, Hypoglycemic seizures, Hypoglyce... ORPHA:480864
Johanson-Blizzard Syndrome
Failure to thrive, Sensorineural hearing impairment, Dextrocardia, Abnormal cardiac septum morpho... ORPHA:2315
Familial Hyperaldosteronism Type Iii
Epistaxis, Polydipsia, Hypokalemia, Tinnitus, Left ventricular hypertrophy, Prolonged QT interval... ORPHA:251274
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity ORPHA:3177
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Br... OMIM:618235
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:300376
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen... OMIM:308240
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Abnormal oral glucose tolerance, Hypertrophic cardiomyopathy, Hyperinsu... ORPHA:276580
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hyp... ORPHA:94089
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure... OMIM:615895
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Leukocytosis, Eosinophilia, Weight loss, Elevated circulating C-re... ORPHA:2070
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Hypoproteinemia, Inabili... ORPHA:167
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Palpitations, Larg... ORPHA:276556
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Prominent antihelix, Failure to thrive, Glucose intolerance, Joint contra... OMIM:614407
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Hypertension, Myocardial infarction ORPHA:54370
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Ventricular sept... OMIM:618775
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Premature Ovarian Failure 2B
Osteoporosis, Female infertility, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hyperinsulinemia, Palpitations, Hypoketoti... ORPHA:276575
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... OMIM:603554
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight OMIM:618347
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:300352
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Hypsarrhythmia, Bradyca... ORPHA:542306
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Andersen-Tawil Syndrome
Low-set ears, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular ext... ORPHA:37553
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment, Bradycardia OMIM:616277
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... OMIM:226990
Glycogen Storage Disease Iv
Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hepatosple... OMIM:232500
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ab... ORPHA:86839
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Gitelman Syndrome
Type II diabetes mellitus, Ventricular fibrillation, Prolonged PR interval, Polydipsia, Palpitati... ORPHA:358
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Polydipsia, Failure to thrive, Hypomagnesemia, Palpitations, Hypo... OMIM:263800
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, ... ORPHA:95717
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Cerebral hemorrhage ORPHA:84090
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... OMIM:616299
Nathalie Syndrome
Cataract, Hearing impairment, Abnormal EKG OMIM:255990
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity OMIM:277950
Rett Syndrome
Abnormal T-wave, Bruxism, Gait ataxia, Stereotypical hand wringing, Cachexia, EEG abnormality, Ga... OMIM:312750
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Low-set ears, Failure to thrive, Elevated circulating creatinine concentration, ... OMIM:608104
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Arrhythmia, Abnormal pupil morphology ORPHA:2151
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG... OMIM:261740
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hemochromatosis, Type 4
Cataract, Impotence, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intole... OMIM:606069
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Hypertrophic cardiomyopathy, Obesity, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Tetanus
Autonomic bladder dysfunction, Elevated circulating creatine kinase concentration, Hypertension, ... ORPHA:3299
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Alg6-Cdg
Hypoalbuminemia, Low-set ears, Failure to thrive, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo... OMIM:208920
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morph... ORPHA:292
Dpagt1-Cdg
Hearing impairment, Hypsarrhythmia, Ataxia, EEG with generalized slow activity, Head-banging, Ina... ORPHA:86309
Alg1-Cdg
Hypoalbuminemia, Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia, Hearing impairment OMIM:618349
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia... ORPHA:90041
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Abnormal heart morphology, Leukocytosis, Bradycardia, Abnormal... ORPHA:391673
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Hematochezia, Abnormal circulating protein concentration, Weight loss, Abnormal ... ORPHA:103910
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal heart valve morphology, Inguinal hernia, Abnormal aortic valv... ORPHA:577
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weight, Ataxia ORPHA:99852
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Sensorineural hearing impairment, Polyphagia, Calcinosis, Choreoathetosis, Cat... ORPHA:79443
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Reni Syndrome
Hypoalbuminemia, Ataxia, Hypoglycemia, Hypogonadism, Lymphopenia, Sensorineural hearing impairmen... OMIM:617575
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Failure to thrive, Hepatosplenomegaly, Pericardial effusion, Port... OMIM:619487
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529799
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Large for gestational age, Corneal opacity ORPHA:2432
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia OMIM:614654
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Ataxia, Corneal ulceration, Osteopenia, Hyp... ORPHA:14
D-Glyceric Aciduria
Failure to thrive, Hypoglycemia, Sensorineural hearing impairment, Tongue thrusting, Hypsarrhythm... OMIM:220120
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Low-set ears, Failure to thrive, Hypocholesterolemia, Splenomegaly, Lipodystroph... OMIM:608776
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Hearing impairment, Failure to thrive, Corneal scarring, Absence ... OMIM:610965
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly... ORPHA:93476
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... ORPHA:89842
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Umbilical hernia, Sensorineural hearing impairment, Abnormal circula... ORPHA:95716
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia, Motor stereotypy OMIM:239500
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Hyperbilirubin... ORPHA:1667
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Mpi-Cdg
Hypoalbuminemia, Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Hyperinsuli... ORPHA:79319
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Second degree atrioventricular block, Hypomagne... ORPHA:79102
Pseudohypoparathyroidism Type 1C
Cataract, Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Po... ORPHA:79444
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia, Reduced C-peptide level, Flexion contrac... OMIM:618856
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Inguinal hernia, Splenomegaly, Hypocalcemia, Ventricular septal defect, Hypoprotein... OMIM:235255
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Inability to walk, O... OMIM:166300
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Ataxia, Failure to thrive, Cardiomyopathy, Hypocholesterolemia, Dysm... OMIM:212065
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Inability ... OMIM:617303
Transient Neonatal Diabetes Mellitus
Hearing impairment, Maturity-onset diabetes of the young, Umbilical hernia, Failure to thrive, Hy... ORPHA:99886
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hepatosplen... ORPHA:367
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Conjunctivitis, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:505248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Keratoconus, Failure to thrive, Increased serum bile acid concentration, Sensori... OMIM:242150
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... ORPHA:247598
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypersplenism, Leukopenia, Hyperbilirubinemia, Sple... ORPHA:64743
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase conc... OMIM:615184
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Reduced bone mineral density, Abnormal cardiac septum morpholo... ORPHA:2370
Avian Influenza
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulating creatine... ORPHA:454836
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Shock, Elevated circul... ORPHA:99826
Glutamine Deficiency, Congenital
Low-set ears, Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture OMIM:610015
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Mydriasis, Prolonged QRS complex, Ischemic stroke, Elev... ORPHA:90068
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:158061
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Hyperglyc... ORPHA:465508
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Congestive heart failure, Abnormal pericardium morphology, Leukocytosis, Constri... ORPHA:67
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia, Hypocalcemia, Abnormal auton... ORPHA:94093
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Elevat... OMIM:616812
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hepatosplenomegaly, Inguinal hernia, Splenomegaly, Hypocalcemia, Ventricular septal... ORPHA:1655
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Splenomegaly, Aplasia/Hypoplasia of the iris, Sensorineural h... ORPHA:290
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Hypotension, Fasciitis, Shock, Elevated circulating creatinine conce... ORPHA:36234
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Sialidosis Type 2
Ataxia, Hearing impairment, Umbilical hernia, Inguinal hernia, Splenomegaly, Corneal opacity, Ost... ORPHA:87876
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, EEG with burst suppression, Inguinal hernia, Bradycardia, Abnormal autonomic nervo... OMIM:614498
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Hypocalcemia, Addictive alcohol use, Prolonged QT i... ORPHA:31826
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Decreased nerve conduction velocity, Loss of ambulation, Hypsarrhythmia, EEG abnorm... ORPHA:565624
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Gómez-López-Hernández Syndrome
Low-set ears, Ataxia, Corneal opacity ORPHA:1532
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defec... ORPHA:40366
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper... ORPHA:439232
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Dermoids Of Cornea
Corneal opacity OMIM:304730
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Hypoketot... OMIM:610768
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Sync... OMIM:170390
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Abnormal circulating homo... ORPHA:88618
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Failure to thrive, Sensorineural hearing impairment, Loss of ambulation, Elev... OMIM:619518
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hypo... ORPHA:247353
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Liver Disease, Severe Congenital
Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular sep... OMIM:619991
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:616730
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co... OMIM:616267
Sheehan Syndrome
Hypoglycemia, Obesity, Palpitations, Decreased female libido, Sensorineural hearing impairment, H... ORPHA:91355
Fabry Disease
Hearing impairment, Mitral regurgitation, Sensorineural hearing impairment, Arrhythmia, Anorexia,... ORPHA:324
Cystinosis
Type I diabetes mellitus, Polydipsia, Failure to thrive, Rickets, Portal hypertension, Hypokalemi... ORPHA:213
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... ORPHA:540
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Ham... OMIM:310200
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Sen... OMIM:618329
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Hearing impairment, Large earlobe, Leukopenia, Astigmatism, Elevated circulating cr... OMIM:301056
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Congenital fi... OMIM:620351
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Portal hypertension, Spleno... OMIM:251880
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Sensorineural hearing impairment, Unste... OMIM:520000
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Congenital Sialidosis Type 2
Low-set ears, Cataract, Optic atrophy, Ataxia, Hearing impairment, Abnormal EKG, Umbilical hernia... ORPHA:93400
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Recurrent hypoglycemia, Biventricular hypertrophy, Hypocholes... ORPHA:79324
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypertension, Hypoplasia of th... OMIM:609049
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... ORPHA:466650
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ... ORPHA:158048
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Conductive hearing impairment, Congestive heart failure, Umbilical hernia, ... ORPHA:423461
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Sepsis In Premature Infants
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Decreased body weight, Elevated circulating... ORPHA:90051
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Low-set ears, Attention deficit hyperactivity disorder, Pulmonary arterial hypertension, Camptoda... OMIM:620029
Harel-Yoon Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Inability to walk, Corneal opacity, Developmental cat... OMIM:617183
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to... ORPHA:137675
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Hyperin... ORPHA:276608
Alpha-Mannosidosis
Cataract, Abnormal helix morphology, Craniofacial hyperostosis, Hearing impairment, Type II diabe... ORPHA:61
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Umbilical hernia, Large for gestational age, Bradycardia, Absent... ORPHA:226313
Erythrokeratodermia Variabilis
Cataract, Hearing impairment, Protruding ear, Weight loss, Corneal opacity, Diabetes mellitus ORPHA:317
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Low-set ears, Su... ORPHA:79076
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Low-set ears, Joint contracture of the hand, Coronal craniosynostosis, Conductiv... OMIM:235510
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Chondrocalcinosis, Glycosuria, Kayser-Fleische... OMIM:277900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Protruding ear, Aggressive... OMIM:152950
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Elevated circulating creatine kinase concentrat... OMIM:619055
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Facial telangiectasia, Inguinal hernia, Impulsivity... OMIM:620141
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hyperammonemia, Sensorineural hearing impairmen... OMIM:617093
17Q24.2 Microdeletion Syndrome
Otosclerosis, Recurrent otitis media, Failure to thrive in infancy, Progressive conductive hearin... ORPHA:529962
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity... ORPHA:1473
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Gait ataxia, Thrombocytopenia, Unsteady gait, Dysphagia, Normochromic anemia OMIM:254900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... ORPHA:1067
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Osteopenia, Ataxia, Hepatosplenomegaly, Pancytopenia, Corneal opa... ORPHA:309288
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... OMIM:222100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Low-set ears, Hypotension, Cystathioninemia, Failure to thrive, Bradycardia, Hypomethioninemia, P... OMIM:277400
Phenylketonuria
Cataract, Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disord... OMIM:261600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Juvenile Sialidosis Type 2
Low-set ears, Cataract, Optic atrophy, Ataxia, Hearing impairment, Umbilical hernia, Abnormal hea... ORPHA:93399
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology,... ORPHA:221098
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hearing impairment, Abnormal mitral valve morphology, Sensorineural he... ORPHA:581
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Aortic regurgitati... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Sensorineural hearing impairment, Optic disc pallor, Primary amenorrhea, ... OMIM:619737
Lujo Hemorrhagic Fever
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Myocarditis, Thrombocytopenia, Bradyca... ORPHA:319213
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Familial Dysautonomia
Ataxia, Optic atrophy, Abnormal pupil morphology, Hyponatremia, Heterochromia iridis, Gait distur... ORPHA:1764
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Cockayne Syndrome Type 1
Cataract, Optic atrophy, Male hypogonadism, Foot joint contracture, Hearing impairment, Failure t... ORPHA:90321
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Short Syndrome
Insulin resistance, Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abno... ORPHA:3163
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell... ORPHA:99228
Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell... ORPHA:99226
Turner Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Hyperinsulinemia, Type II diabetes mell... ORPHA:881
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Failure to thrive in infancy, Autoimmu... ORPHA:37042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Corneal opacity,... ORPHA:79396
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Ataxia, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Reduced sub... ORPHA:363400
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Abnormality of somato... ORPHA:52368
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Bradycardia OMIM:617397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Left ventricular hypertrophy, Corneal opacity, Elevated circulating creatine kinase con... OMIM:613153
Syndromic Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Acute leukemia, Hypogonadism, Corneal opacity ORPHA:281090
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Joint contracture of the hand, Low-set ears, Optic atrophy, Hypoplasia... OMIM:251300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
8p23.1 deletion syndrome
Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Hypera... DECIPHER:39
Leptospirosis
Hypotension, Pulmonary hemorrhage, Conjunctival hyperemia, Arrhythmia, Papilledema, First degree ... ORPHA:509
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Anorexia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch blo... ORPHA:99827
Tangier Disease
Facial diplegia, Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II con... OMIM:205400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Failure to thrive, Hypoglycemia, Slender build, Pancytopeni... OMIM:613658
Lcat Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased circulating apolipoprote... ORPHA:650
Proximal Spinal Muscular Atrophy
Elbow flexion contracture, Difficulty walking, Inability to walk, Facial diplegia, Multiple joint... ORPHA:70
Nephrotic Syndrome, Type 8
Hypoalbuminemia, Sensorineural hearing impairment OMIM:615244
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, ... ORPHA:90673
Sialidosis Type 1
Ataxia, Cataract, Decreased nerve conduction velocity, Splenomegaly, Sensorineural hearing impair... ORPHA:812
Hyperlysinemia, Type I
Hypoornithinemia, Ectopia lentis, Hyperlysinemia, Hyperactivity, Anemia, Dysdiadochokinesis, Opti... OMIM:238700
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Umbilical hernia, Inguinal he... OMIM:614170
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Failure to thrive, Hypokalemia, Anemia OMIM:174900
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia OMIM:271310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,... OMIM:600501
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Gm1 Gangliosidosis
Low-set ears, Optic atrophy, Ataxia, Coarse metaphyseal trabecularization, Failure to thrive, Car... ORPHA:354
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Sensorineural hearing impairment, Arrhythmia, Motor stereotypy,... ORPHA:580
Bardet-Biedl Syndrome 9
Irregular menstruation, Cataract, Polydipsia, Hyperglycemia, Obesity, Astigmatism, Polyphagia, Tr... OMIM:615986
Stickler Syndrome Type 2
Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Abnormal EKG, Inability to walk, Reduced left ventricular ejection fraction, Brachi... ORPHA:268
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hypoglycemia, Congestive heart failure, H... OMIM:617156
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Congestive heart failure, Focal... ORPHA:3077
Juvenile Polyposis Syndrome
Low-set ears, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Rectocele, Failure to thrive,... ORPHA:2929
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Fai... ORPHA:73272
Morquio Syndrome C
Corneal opacity OMIM:252300
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Progressive gait ataxia, Dysphagia, Abnormal EKG ORPHA:1177
Fish-Eye Disease
Angina pectoris, Corneal opacity, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Difficulty w... ORPHA:206443
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Gait ataxia, Corneal opacity, Spastic gait,... ORPHA:496790
Myotonic Dystrophy 2
Posterior subcapsular cataract, Insulin insensitivity, Hypogonadism, Palpitations, Type II diabet... OMIM:602668
Wilson Disease
Failure to thrive, Kayser-Fleischer ring, Difficulty walking, Abnormality of the menstrual cycle,... ORPHA:905
Brachyolmia Type 1, Hobaek Type
Osteopenia, Opacification of the corneal stroma, Corneal opacity OMIM:271530
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... OMIM:620519
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Abnormal EKG, Hypertrophic cardi... OMIM:229300
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive, Bradycardia OMIM:619272
Kawasaki Disease
Hypoalbuminemia, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal d... ORPHA:2331
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Failure to thrive, Multiple muscular ventricular septal defects, ... OMIM:615508
Beta-Ketothiolase Deficiency
Ataxia, Hypotension, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperur... ORPHA:134
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Scorpion Envenomation
Hyperglycemia, Premature ventricular contraction, Arrhythmia, Ataxia, Tachycardia, Restlessness, ... ORPHA:466677
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivi... ORPHA:411515
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachy... OMIM:614653
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Failure to thrive, Congestive heart failure, Lymphopeni... ORPHA:1830
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen... ORPHA:3240
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyp... ORPHA:29073
Wagro Syndrome
Low-set ears, Cataract, Aniridia, Obesity, Polyphagia, Aggressive behavior, Corneal opacity, Comp... OMIM:612469
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Ataxia OMIM:618970
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Loss of ambulation, Corneal opacity, Osteoporosis, Waddling gait ORPHA:2788
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Low-set ears, Failure to thrive, Hiatus hernia, Camptodactyly, Hypertension OMIM:617729
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megac... OMIM:613870
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
45,X/46,Xy Mixed Gonadal Dysgenesis
Hearing impairment, Male infertility, Recurrent otitis media, Low-set, posteriorly rotated ears, ... ORPHA:1772
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Erythrocytosis, Familial, 2
Hypotension, Failure to thrive, Increased hematocrit, Increased red blood cell mass, Increased ci... OMIM:263400
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Low-set ears, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertri... OMIM:618183
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Sensorineural hearing impairment, ... OMIM:600430
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Short Syndrome
Low-set ears, Cataract, Insulin resistance, Insulin-resistant diabetes mellitus, Megalocornea, Hy... OMIM:269880
Primary Ciliary Dyskinesia
Abnormal sperm motility, Conductive hearing impairment, Hearing impairment, Polysplenia, Atrial s... ORPHA:244
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Cardiomyopathy, Polysplenia, Bundle branch block, Camptodactyly of fin... ORPHA:373
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Sensorineural hearing impairment, Arrhythmi... OMIM:216400
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Sensorineural hearing impairment, Severe failure to thrive, ... OMIM:133540
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Anorexia, Recurrent otitis medi... OMIM:619381
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Large for gesta... ORPHA:263455
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cataract, Low-set ears, Hearing impairment, Failure to thrive, Hypertrophic card... OMIM:270400
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... OMIM:609040
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
3-Methylglutaconic Aciduria, Type Viii
Cataract, Failure to thrive, Sensorineural hearing impairment, Neutropenia, Bradycardia, Neonatal... OMIM:617248
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Reduced circulating transferrin ... ORPHA:90363
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Self-mutilation,... OMIM:256800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Aromatase Deficiency
Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Female infertility, Obesity, Typ... ORPHA:91
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Self-injurious behavior, Absent internal auditory canal, Profound sensorineural hearing impairmen... OMIM:620469
Gaucher Disease
Aortic valve calcification, Hearing impairment, Pancytopenia, Ataxia, Elevated circulating C-reac... ORPHA:355
Hurler Syndrome
Aortic regurgitation, Hearing impairment, Cardiomyopathy, Umbilical hernia, Recurrent otitis medi... OMIM:607014
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Corneal opacity, Camptodactyly of finger, Megalocornea ORPHA:2741
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked... OMIM:617523
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Ciliary Dyskinesia, Primary, 37
Female infertility, Situs inversus totalis, Hearing impairment, Dextrocardia OMIM:617577
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Hypergly... OMIM:175700
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked poten... ORPHA:99027
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Abnormal amplitude of flash visual evoked potentials, EEG with spike-w... ORPHA:168491
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Portal hypertension, Splenomegaly, Hyp... ORPHA:186
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Spider hemangioma, Type I diabetes mellitus, Palmar telangiectasia, ... ORPHA:171
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Hypsarrhythmia, Joint contra... OMIM:618397
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Self-injurious behavior, Low-set ears, Conductive hearing impairment, Obesi... ORPHA:254346
Pediatric-Onset Graves Disease
Keratitis, Sinus tachycardia, Polydipsia, Congestive heart failure, Failure to thrive, Palpitatio... ORPHA:525731
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Heart murmur, Corneal opacity, Cataract ORPHA:1867
Mend Syndrome
Aortic valve stenosis, Cataract, Low-set ears, Abnormal auditory evoked potentials, Failure to th... ORPHA:401973
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hypoglycemia, EEG with burst suppression, Hyperglycemia, Hyperglycinemia, Partial ... OMIM:620423
Alstrom Syndrome
Irregular menstruation, Dilated cardiomyopathy, Progressive sensorineural hearing impairment, Ins... OMIM:203800
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Recurrent otitis media, Mitral regurgitation, Sinus bradycardia, Aggress... OMIM:261990
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, EEG with burst suppression, Hypsarrhythmia, Hyperactivity, Atrial septal defec... OMIM:619239
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Asymmetric se... OMIM:252920
Parathyroid Carcinoma
Chondrocalcinosis, Polydipsia, Shortened QT interval, Hypophosphatemia, Weight loss, Dysphagia, O... ORPHA:143
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic di... OMIM:619260
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Ataxia, Hearing impairment, Grayish enamel, Inguinal hernia, Mitral regurg... OMIM:253010
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing imp... ORPHA:93474
Lowry-Maclean Syndrome
Low-set ears, Osteopenia, Megalocornea, Atrioventricular canal defect, Congenital diaphragmatic h... ORPHA:2409
Zellweger Syndrome
Cataract, Optic atrophy, Failure to thrive, Epiphyseal stippling, Sensorineural hearing impairmen... ORPHA:912
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Interictal epileptiform activity, Athetosis,... OMIM:618857
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... ORPHA:293603
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Decreased fertility, Secondar... ORPHA:1643
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Norrie Disease
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur... OMIM:310600
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Low-set ears, Osteopenia, Hernia, Protruding ear, Developmental cataract, C... OMIM:616603
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Senso... OMIM:109120
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Yellow Fever
Shock, Elevated circulating creatinine concentration, Reduced left ventricular ejection fraction,... ORPHA:99829
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Polydipsia, Shortened QT interval, Hypophosphatemia, Dysphagia, Osteoporosis, ... ORPHA:99880
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Umbilical hernia, Contracture of the distal interp... OMIM:607015
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... OMIM:612310
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Hyperbilirubinemia, V... OMIM:619534
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flex... OMIM:248370
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ataxia, Ocular albinism, Inguinal hernia, Sensorineural hearing ... ORPHA:2719
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hypertension, Hyperlipidemia, Pulmonary embolism ORPHA:567546
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Mucopolysaccharidosis Type 1
Optic atrophy, Hearing impairment, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorma... ORPHA:579
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Gait disturbance, Precocious costochondral ossification OMIM:271630
Mucopolysaccharidosis Type 4
Hearing impairment, Abnormal dental enamel morphology, Abnormal heart valve morphology, Grayish e... ORPHA:582
Walker-Warburg Syndrome
Low-set ears, Cataract, Microcornea, Optic atrophy, Abnormal circulating creatine kinase concentr... ORPHA:899
Congenital-Onset Steinert Myotonic Dystrophy
Cataract, Bundle branch block, Obesity, Decreased body weight, First degree atrioventricular bloc... ORPHA:589821
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Schimke Immunoosseous Dysplasia
Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Cer... OMIM:242900
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Incontinentia Pigmenti
Cataract, Keratitis, Congestive heart failure, Camptodactyly of finger, Umbilical hernia, Abnorma... ORPHA:464
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Osteopenia, Interphalangeal joint contracture of finger, Peripheral op... OMIM:259600
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Aortic regurgitation, Claw hand defor... OMIM:252605
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Abnormal cornea morphology, Failure to thrive, Enamel hypoplasia, Osteopo... ORPHA:79404
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Umbilical hernia, Inguinal hernia, Splenomegaly, Hyperactivity, Asymmetric se... OMIM:252900
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia, T... ORPHA:90037
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes... ORPHA:261529
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachycardia, Abnormal circulating protein concentration, Elevated c... ORPHA:264675
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Fucosidosis
Hearing impairment, Failure to thrive, Cardiomegaly, Corneal opacity, Lipoatrophy ORPHA:349
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Focal Dermal Hypoplasia
Low-set ears, Ectopia lentis, Hearing impairment, Coarse metaphyseal trabecularization, Hypoplasi... ORPHA:2092
Mucolipidosis Type Iv
Ataxia, Gait disturbance, EEG abnormality, Corneal opacity ORPHA:578
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Hyperinsulinemia, Type II diabetes mellitus, Splen... OMIM:269700
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Decreased nerve conduction velocity, Limb ataxia, Restless legs, Gait ataxia, ... ORPHA:101085
Distal Deletion 6P
Self-injurious behavior, Low-set ears, Hearing impairment, Hypoplasia of the iris, Ectopia pupill... ORPHA:96125
Bohring-Opitz Syndrome
Optic atrophy, Congenital contracture, Low-set, posteriorly rotated ears, Inability to walk, Card... ORPHA:97297
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cataract, Osteopenia, Ataxia, Cranial hyperostosis, Umbilical hernia, Hepat... ORPHA:309282
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Congenital Disorder Of Deglycosylation 1
Low-set ears, Athetosis, Oral-pharyngeal dysphagia, Dysmetria, Decreased body weight, Hyperalanin... OMIM:615273
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Abnormal dental enamel morphology, Low-set, posteriorly... ORPHA:2323
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... ORPHA:206436
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Sensorineural hearing i... OMIM:201000
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Corneal opacity OMIM:618961
Hydroxykynureninuria
Hypotension, Abnormal circulating tryptophan concentration, Congenital sensorineural hearing impa... ORPHA:79155
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Sensorineural hearing impairment,... ORPHA:760
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Prominent ear helix, ... ORPHA:740
Hurler Syndrome
Abnormal nerve conduction velocity, Hearing impairment, Cardiomyopathy, Camptodactyly of finger, ... ORPHA:93473
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
De Barsy Syndrome
Low-set ears, Cataract, Osteopenia, Failure to thrive, Umbilical hernia, Large earlobe, Inguinal ... ORPHA:2962
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, E... ORPHA:206448
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age, Hyperactivity, Increased circulating thyroglobulin concen... OMIM:609152
Williams Syndrome
Megalocornea, Type II diabetes mellitus, Mitral regurgitation, Overfriendliness, Sensorineural he... ORPHA:904
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Umbilical hernia, Sensorineural hearing impairment, Hypogonadotropic hypogonadism, ... ORPHA:226307
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Farber Disease
Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Osteoporosis, F... ORPHA:333
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Cardiomyopathy, Inguinal hernia, Sever... OMIM:252600
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Low-set ears, Hyperactivity, Ataxia, Craniosynostosis, Opacification of ... OMIM:601853
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Facial diplegia, Left ventricu... ORPHA:31150
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Peters anomaly, Umbilical hernia, Tetralogy of Fallot, Axenfeld anomaly, Patent for... OMIM:612582
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopathy, Ventricular tachycardia, ... OMIM:300952
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Peters anomaly, Hearing impairment, Congenital diaphrag... OMIM:309801
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Osteomalacia, Hypophosphatemia, Motor stereotypy, Chronic otitis media, Self-injurio... ORPHA:534
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Generalized bone demineralization, Abnormal T cell morphology, Opacification of th... OMIM:215250
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Recurrent otitis media, Corneal opacity, Conjunctivitis, Posteriorly rotated ears, Mic... OMIM:602562
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Failure to thrive, Astigm... ORPHA:464311
Bartsocas-Papas Syndrome 2
Axillary pterygium, Low-set ears, Popliteal pterygium, Corneal opacity, Antecubital pterygium, Ov... OMIM:619339
Pyruvate Carboxylase Deficiency
Ataxia, Abnormal temper tantrums, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, T... ORPHA:3008
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi... OMIM:616881
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal neovascularization, Abnormal Descemet membra... OMIM:617315
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Abnormal temper tantrums, Bacterial endocarditis, Broad-based gait, A... ORPHA:2072
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Splenomegaly, Abnormality of peripheral nerve conduction, Sensorineural ... ORPHA:585
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Tempi Syndrome
Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia ORPHA:284227
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Umbilical hernia, Tricuspid regurgitation, Hearing impairment,... OMIM:253200
Multiple Endocrine Neoplasia Type 1
Impotence, Decreased male libido, Shortened QT interval, Cranial nerve compression, Anorexia, Hyp... ORPHA:652
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Umbilical hernia, Increased circulating thyroglobulin concentration, Bradycardia OMIM:218700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Hypokalemia, Tinnitu... ORPHA:231625
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Failure to thrive, Astigmatism, Multiple joint contr... ORPHA:464306
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Hepatosplenomegaly, Mitral regurgita... OMIM:614866
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Polydipsia, Cardiomyopathy, Insulin-resistant dia... ORPHA:769
Tbck-Related Intellectual Disability Syndrome
EEG with generalized epileptiform discharges, Abnormal circulating lipid concentration, Inability... ORPHA:488632
3Q29 Microduplication Syndrome
Low-set ears, Cataract, Hearing impairment, Aniridia, Obesity, Ventricular septal defect, Camptod... ORPHA:251038
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin... OMIM:617052
Chronic Thromboembolic Pulmonary Hypertension
Increased HDL cholesterol concentration, Right ventricular failure, Pulmonary embolism, Congestiv... ORPHA:70591
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Legius Syndrome
Cataract, Acute monocytic leukemia, Hearing impairment, Vestibular schwannoma, Mitral valve prola... ORPHA:137605
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis, Corneal opacity OMIM:607016
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Sclerosis... ORPHA:79474
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul... ORPHA:79330
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Joint contracture of the hand, Abnormal helix morphology, Failure to thrive, Abnormal h... OMIM:214110
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Pmm2-Cdg
Hyperinsulinemia, Impaired neutrophil chemotaxis, Ataxia, Abnormal pinna morphology, Macrotia, Ca... ORPHA:79318
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Tachycardia, Palpitations, Weight loss OMIM:188580
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Mucopolysaccharidosis, Type Vii
Hearing impairment, Cardiomyopathy, Umbilical hernia, Recurrent otitis media, Abnormal heart valv... OMIM:253220
Pancreatic And Cerebellar Agenesis
Low-set ears, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Hyperglycemia, Redu... OMIM:609069
Addison Disease
Normocytic anemia, Hypotension, Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Decrea... ORPHA:85138
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased body weight, Abdominal obesity, Osteoporosis, Hypertension OMIM:615954
Donohue Syndrome
Low-set ears, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Adipose tissue loss, S... OMIM:246200
Dend Syndrome
Elevated hemoglobin A1c, Hypsarrhythmia, Thickened ears, Hyperglycemia ORPHA:79134
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Craniofacial hyperostosis, Bone cyst, Tricuspid valve prolapse, Multiple l... ORPHA:2396
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segmen... OMIM:609136
Pseudo-Torch Syndrome 1
Low-set ears, Cataract, Failure to thrive, Umbilical hernia, Splenomegaly, Patent foramen ovale, ... OMIM:251290
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Recurrent otitis media, Arrhythmia, Flexion contracture of finger, Elevated ci... OMIM:256040
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Cataract, Cupped ear, Abnormality of cartilage of external ear, Conjunctival hypere... ORPHA:2399
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Cardiomyopathy, Camptodactyly of fing... ORPHA:217085
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Splenome... OMIM:608594
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Megalocornea, Atrial septal defect, Iris... ORPHA:536471
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... OMIM:221900
Norrie Disease
Abnormal helix morphology, Sensorineural hearing impairment, Cachexia, Motor stereotypy, Anterior... ORPHA:649
Encephalitis Lethargica
Bradycardia ORPHA:83600
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Splenomegaly, Ataxia OMIM:230650
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Cardiomyopathy, Camptodactyly of fing... ORPHA:217093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Cataract, Optic atrophy, Optic nerve hypoplasia, Peters anomaly, Congenital contrac... OMIM:236670
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Renal Nutcracker Syndrome
Infertility, Dysmenorrhea, Syncope, Weight loss, Orthostatic hypotension, Abnormal autonomic nerv... ORPHA:71273
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Facial paralysis, Ectopia pupillae, Hypoplasia of the iris, Ischemic stroke, Peripap... OMIM:175780
Oculocerebrocutaneous Syndrome
Hearing impairment, Congenital diaphragmatic hernia, Corneal opacity, Iris coloboma, Abnormal pin... ORPHA:1647
Al-Gazali Syndrome
Osteopenia, Failure to thrive, Wrist flexion contracture, Corneal opacity, Sclerocornea OMIM:609465
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Rickets, Glycosuria, Failure to thrive, Osteomalacia, H... OMIM:227810
Premature Aging Syndrome, Penttinen Type
Keloids, Failure to thrive, Sensorineural hearing impairment, Corneal stromal edema, Flexion cont... OMIM:601812
Aniridia 1
Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Hypoplasia of the iris, Ectopia pup... OMIM:106210
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Failure to thrive, Hypophosphatemia,... ORPHA:2088
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Osteopenia, Failure to thrive, Tip-toe... OMIM:252500
Mucopolysaccharidosis Type 7
Umbilical hernia, Epiphyseal stippling, Inguinal hernia, Splenomegaly, Corneal opacity ORPHA:584
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Microcornea, Cupped ear, Female infertility, Amenorrhea, Premature ovaria... OMIM:110100
Osteogenesis Imperfecta
Hearing impairment, Mitral valve prolapse, Decreased skull ossification, Loss of ambulation, Atax... ORPHA:666
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hearing impairment, Abnormal earlobe morphology, Failure to thrive, Hyper... ORPHA:2556
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Hearing impairment, Glycosuria, Failure to thrive, ... ORPHA:99885
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Hypoplasia of the iris, Ventricular septal defect, Subvalvular aortic stenos... OMIM:613001
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Low-set ears, Hearing impairment, Camptodactyly of finger, Corne... ORPHA:284160
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Sclerocorn... ORPHA:1806
Multiple Sulfatase Deficiency
Ataxia, Splenomegaly, Hearing impairment, Corneal opacity OMIM:272200
Alternating Hemiplegia Of Childhood
Ataxia, Mydriasis, Failure to thrive, Cardiomyopathy, Abnormal T-wave, Oral-pharyngeal dysphagia,... ORPHA:2131
Mosaic Trisomy 9
Low-set ears, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosi... ORPHA:99776
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma, Abnormal circulating lipid concentration, D... ORPHA:425
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Cataract, Abnormal helix morphology, Hearing impairment, Failure to thrive, Opacifi... OMIM:214100
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Leukocoria, Developm... ORPHA:91495
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp... ORPHA:171929
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Corneal opacity OMIM:163200
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Portal hypertension, Inguinal hernia, Hypochromic microcytic anemia, ... ORPHA:440713
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Corneal opacity ORPHA:1794
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Hearing impairment, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Op... OMIM:601499
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Mucopolysaccharidosis Type 6
Hearing impairment, Failure to thrive, Abnormal heart valve morphology, Splenomegaly, Hernia, Opa... ORPHA:583
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hyperammonemia, Hypoglycemia OMIM:615453
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Hearing impairment, Low-set, posteriorly rotated ears, Subvalvula... ORPHA:1052
Microphthalmia/Coloboma 9
Low-set ears, Microcornea, Ocular anterior segment dysgenesis, Sclerocornea, Iris coloboma, Macrotia OMIM:615145
Olmsted Syndrome 1
Flexion contracture, Opacification of the corneal stroma, Corneal opacity OMIM:614594
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Right ventricular dilatation, Tricuspid regurgitation, Congenital diaphragmatic her... OMIM:614437
Chromosome 15Q25 Deletion Syndrome
Low-set ears, Polysplenia, Coronary artery fistula, Congenital diaphragmatic hernia, Macrocytic a... OMIM:614294
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Sensorineural hearing impairment, Sclerocornea, Iris coloboma ORPHA:139471
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Neurofibromatosis Type 1
Ataxia, Chronic myelogenous leukemia, Cataract, Osteopenia, Hearing impairment, Heterochromia iri... ORPHA:636
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Conductive hearing impairment, Umbilical hernia, Astigmatism, Sclerocornea ORPHA:2095
Woodhouse-Sakati Syndrome
Osteopenia, Insulin-resistant diabetes mellitus, Abnormal T-wave, Hypogonadism, Hyperinsulinemia,... ORPHA:3464
Fryns Syndrome
Low-set, posteriorly rotated ears, Tetralogy of Fallot, Congenital diaphragmatic hernia, Aganglio... ORPHA:2059
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Mucopolysaccharidosis, Type Iva
Hearing impairment, Abnormal heart valve morphology, Grayish enamel, Inguinal hernia, Osteoporosi... OMIM:253000
Moebius Syndrome
Hearing impairment, Hypogonadotropic hypogonadism, Dysphagia, Corneal opacity, Facial palsy, Arth... ORPHA:570
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Cataract, Hearing impairment, Corneal neovascularization, Keratoconjunctivitis, Eo... OMIM:158310
Dextrocardia
Abnormal EKG, Abnormal heart morphology, Abnormality of the spleen, Situs inversus totalis, T-wav... ORPHA:1666
Cole Disease
Abnormal blood phosphate concentration, Hyperglycemia OMIM:615522
Woodhouse-Sakati Syndrome
Hearing impairment, Abnormal T-wave, Hyperlipidemia, Sensorineural hearing impairment, Protruding... OMIM:241080
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Hearing impairment, Hypoglycemia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, ... OMIM:124000
Choreoacanthocytosis
Acanthocytosis, Hair-pulling, Loss of ambulation, Weight loss, Dysphagia, Socially inappropriate ... ORPHA:2388
Mosaic Trisomy 8
Hearing impairment, Camptodactyly of finger, Abnormal antihelix morphology, Protruding ear, Corne... ORPHA:96061
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Failure to thrive, Umb... OMIM:600001
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Recurrent otitis media, Slender build, Type II diabetes mellitus, Reduced subcutane... ORPHA:3455
Noonan Syndrome
Osteopenia, Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal... ORPHA:648
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Dysphagia, Astigmatism, Sinus bradycardia OMIM:619482
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Argininemia
Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Spastic gait, Reduced erythrocyte argi... OMIM:207800
Lathosterolosis
Cataract, Microcornea, Hearing impairment, Failure to thrive, Abnormal platelet morphology, Throm... ORPHA:46059
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Xeroderma Pigmentosum
Cataract, Optic atrophy, Craniofacial hyperostosis, Keratitis, Hearing impairment, Failure to thr... ORPHA:910
Chime Syndrome
Acute leukemia, Hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Transposition... ORPHA:3474
African Trypanosomiasis
Difficulty walking, Hepatosplenomegaly, Arrhythmia, Weight loss, Choreoathetosis, Third degree at... ORPHA:3385
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Polydipsia, Glycosuria, Failure to thrive, Rickets,... ORPHA:411629
Wolf-Hirschhorn Syndrome
Optic atrophy, Hearing impairment, Failure to thrive, Megalocornea, Low-set, posteriorly rotated ... ORPHA:280
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Polydipsia, Glycosuria, Failure to th... ORPHA:411634
Rodrigues Blindness
Sclerocornea, Microcornea, Protruding ear OMIM:268320
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low-set ears, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Mitral... OMIM:220111
Oculoectodermal Syndrome
Microcornea, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigmatism, Hyperactivity, ... OMIM:600268
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Oculoauricular Syndrome
Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Absent earlobe,... OMIM:612109
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Hearing imp... OMIM:256540
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Hearing impairment, Ventricular septal defect ORPHA:77298
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Low-set ears, Osteopenia, Congestive heart failure, Dilatation of the ventr... ORPHA:90348
Leprechaunism
Low-set ears, Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hypertrophic car... ORPHA:508
Thrombocytopenia-Absent Radius Syndrome
Cataract, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, V... OMIM:274000
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Fasciitis, Difficulty walking, Corneal scarring, Abnormality of the au... ORPHA:642
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Ke... ORPHA:495875
Stromme Syndrome
Accessory spleen, Cataract, Microcornea, Low-set ears, Peters anomaly, Sclerocornea, Iris colobom... OMIM:243605
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Microphthalmia/Coloboma 12
Optic nerve aplasia, Peters anomaly, Optic disc coloboma, Corneal opacity OMIM:120200
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Camptodactyly of finger, Abnormal dental enamel morphology, Corneal op... ORPHA:2908
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Digeorge Syndrome
Low-set ears, Umbilical hernia, Recurrent otitis media, Tetralogy of Fallot, Obesity, Splenomegal... OMIM:188400
Tyrosinemia Type 2
Ataxia, Corneal opacity ORPHA:28378
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Corneal crystals, Polydipsia, G... OMIM:219800
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Cataract, Optic atrophy, Abnormal dental enamel morphology, Low-set, pos... ORPHA:818
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Bardet-Biedl Syndrome
Hearing impairment, Type II diabetes mellitus, Ataxia, Macrotia, Irregular menstruation, Cataract... ORPHA:110
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Optic disc coloboma, Ectopia pupillae, Recurrent otitis media, Corneal opacity, Lens subluxation OMIM:608940
Stuve-Wiedemann Syndrome 1
Low-set ears, Elbow flexion contracture, Knee flexion contracture, Thickened cortex of long bones... OMIM:601559
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma, Atresia of the external auditory canal OMIM:601356
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Chromosome 8Q21.11 Deletion Syndrome
Low-set ears, Cataract, Sensorineural hearing impairment, Protruding ear, Camptodactyly, Scleroco... OMIM:614230
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Cupped ear, Hearing impairment, Conductive hearing impairment, Congestive heart failure... ORPHA:444077
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Hearing impairment, Failure to thrive, Corneal opacity ORPHA:364577
Peters Plus Syndrome
Hypoplastic left heart, Cataract, Microcornea, Optic atrophy, Peters anomaly, Microtia, second de... ORPHA:709
Larsen Syndrome
Conductive hearing impairment, Hearing impairment, Ventricular septal defect, Multiple carpal oss... OMIM:150250
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Tinnitus, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the ora... ORPHA:79280
3Mc Syndrome 3
Auricular pit, Abnormal pinna morphology, Hearing impairment, Corneal opacity OMIM:248340
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Macrotia OMIM:614748
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Congestive heart failure, Abnormal EKG, Concentric hypertro... OMIM:601992
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Hyperglycemia, Obesity, Hyperlipidemia, Sensorineural hearin... ORPHA:293987
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre... OMIM:612716
Ablepharon Macrostomia Syndrome
Hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, Umbilical he... ORPHA:920
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Neurocardiofaciodigital Syndrome
Cataract, Hearing impairment, Failure to thrive, Tetralogy of Fallot, Atrial septal defect, Scler... OMIM:619869
Spondyloepiphyseal Dysplasia, Maroteaux Type
Generalized osteoporosis, Opacification of the corneal stroma OMIM:184095
Mitchell-Riley Syndrome
Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus OMIM:615710
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma OMIM:169550
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Failure to thrive, Sensorineural hearing impairment, Ventricular septal defect, Ven... OMIM:608670
Yunis-Varon Syndrome
Low-set ears, Cataract, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, Ventricular sept... ORPHA:3472
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Sensorineural hearing impairment, Ventricular septal defect, Hypog... OMIM:206900
Limb Body Wall Complex
Abnormal heart morphology, Congenital diaphragmatic hernia, Ventricular septal defect, Ventral he... ORPHA:2369
Mosaic Trisomy 1
Low-set ears, Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia... ORPHA:1692
Van Den Ende-Gupta Syndrome
Joint contracture of the hand, Camptodactyly of 2nd-5th fingers, Elbow flexion contracture, Knee ... OMIM:600920
Phace Syndrome
Cataract, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia iridis, Abnormal cardiac ... ORPHA:42775
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne... OMIM:221800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Low-set ears, Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ov... ORPHA:572333
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Failure to thrive, Camptodactyly of finger, Abnormal dental enamel morphology, Macroti... ORPHA:2273
Meckel Syndrome
Accessory spleen, Cataract, Microcornea, Optic atrophy, Low-set, posteriorly rotated ears, Situs ... ORPHA:564
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Proboscis Lateralis
Cataract, Microcornea, Optic disc coloboma, Ventricular septal defect, Corneal opacity, Iris colo... ORPHA:141099
Fraser Syndrome 1
Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Megalocornea, Elevated circulating creatine kinase concentration, Enlarg... OMIM:253280
Bartsocas-Papas Syndrome 1
Axillary pterygium, Low-set ears, Popliteal pterygium, Arthrogryposis multiplex congenita, Cupped... OMIM:263650
Fryns Syndrome
Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Polysplenia, Large for ge... OMIM:229850
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Ankle flexion contracture, Low-set ears, Elbow flexion contracture, K... OMIM:268300
Hereditary Acrokeratotic Poikiloderma
Hearing impairment, Camptodactyly of finger, Keratoconjunctivitis, Telangiectasia of the skin, Op... ORPHA:2907
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Yunis-Varon Syndrome
Low-set ears, Sensorineural hearing impairment, Ventricular septal defect, Severe failure to thri... OMIM:216340
Microphthalmia, Syndromic 6
Low-set ears, Lambdoidal craniosynostosis, Microcornea, Hearing impairment, Failure to thrive, Pr... OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Hearing impairment, Umbilical hernia, Corneal neovascularization, Inguinal hernia, Rec... OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Optic nerve dysplasia, Elevated circulating creatine kinase ... OMIM:615287
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Conductive hearing impairment, Hypogo... ORPHA:791
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Failure to thrive, Low-set, posteriorly rotated ears, Abnormal hea... ORPHA:2754
Retinitis Pigmentosa 31
OMIM:609923

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Topors

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Topors.

No publications found that use IMPC mice or data for Topors.

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MGI Allele Allele Type Produced
Toporsem1(IMPC)J Exon Deletion Mice

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