Gene Summary

Name:
ubiquitin specific peptidase 53
Synonyms:
Sp6,  Phxr3,  mbo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Usp53em1(IMPC)Tcp HOM Early adult 2.58×10-05
abnormal startle reflex Usp53em1(IMPC)Tcp HOM Early adult 2.44×10-19
increased circulating cholesterol level Usp53em1(IMPC)Tcp HOM Early adult 1.78×10-05
decreased prepulse inhibition Usp53em1(IMPC)Tcp HOM Early adult 0.00
increased circulating bilirubin level Usp53em1(IMPC)Tcp HOM Early adult 7.16×10-13
decreased startle reflex Usp53em1(IMPC)Tcp HOM Early adult 7.11×10-06
decreased bone mineral density Usp53em1(IMPC)Tcp HOM Early adult 6.22×10-14
increased circulating alkaline phosphatase level Usp53em1(IMPC)Tcp HOM Early adult 8.15×10-14
abnormal auditory brainstem response Usp53em1(IMPC)Tcp HOM   Early adult 1.22×10-09
decreased bone mineral content Usp53em1(IMPC)Tcp HOM Early adult 3.81×10-15
prolonged PR interval Usp53em1(IMPC)Tcp HOM Early adult 2.00×10-11
abnormal coat/ hair morphology Usp53em1(IMPC)Tcp HOM Early adult 6.09×10-08

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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.

Eye Morphology

Images Ophthalmoscopy

102 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

72 Images

Histopathology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Human diseases caused by Usp53 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 Usp53 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hearing impairment OMIM:619658

The table below shows human diseases predicted to be associated to Usp53 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... OMIM:310300
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Hearing impairment, Increased LDL cholesterol concentration, Hypercholester... OMIM:144300
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten... ORPHA:90041
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Edinburgh Malformation Syndrome
Frontal hirsutism, Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase... OMIM:615703
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Hypsarrhythmia, Ventricular escape rhythm, Arrhythmia, Prolonge... ORPHA:542306
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:620010
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Left anterior... OMIM:181350
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypertension, Hyperostosis frontalis interna, Hirsutism, Osteoporosis, Action trem... ORPHA:77296
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
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic... ORPHA:231169
Multiple Myeloma
Osteopenia, Hypercalcemia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine... ORPHA:29073
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Distal Myopathy, Tateyama Type
Palpitations, Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Hyperprolinemi... OMIM:616299
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia, Decreased motor nerve conduction velocity OMIM:607250
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Spinocerebellar atrophy ORPHA:95433
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Long eyelashes, Neonatal hyperbilirubinemia, Sparse hair ORPHA:3363
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Elevated circulating creatine kinase concentration, Arrhythmia, Joint c... OMIM:611705
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Fair hair, Conjugated hyperbilirubinemia OMIM:269920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Sensorineural h... OMIM:614300
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Congenital Myopathy 24
Facial palsy, First degree atrioventricular block, Abnormal circulating creatine kinase concentra... OMIM:617336
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Flexion contracture, Hypoproteinemia, Tremor OMIM:608093
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastrointestinal hemorrhage ORPHA:2924
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concen... ORPHA:26793
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Head tremor, Dystonia, Elevated circulating a... ORPHA:64753
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Papilledema, Arrhythmia, Subconjunctival hemorrhag... ORPHA:509
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Gitelman Syndrome
Hypermagnesemia, Prolonged QT interval, Hypokalemia, Hypocalcemia, Prominent U wave, Low-to-norma... ORPHA:358
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Elevated circulating creatine kinase concentration, Dystonia, Hypoalbuminemia, Hyperchole... OMIM:208920
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H... ORPHA:86816
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentratio... OMIM:616278
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Angina pectoris OMIM:614025
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hirsutism, Hypercholesterolemia, Hypocalcemia OMIM:612526
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Familial Thyroid Dyshormonogenesis
Bradycardia, Sensorineural hearing impairment, Abnormal circulating thyroglobulin concentration, ... ORPHA:95716
Cholestasis, Benign Recurrent Intrahepatic, 1
Hearing impairment, Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Epistaxis, Conjugated hyperbilirubinemia OMIM:211600
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Bone cyst, Hypertrophic cardiomyopathy, Low poste... ORPHA:528
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Bilateral sensorin... ORPHA:73272
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Recurrent otitis media, Hypercholesterolemia ORPHA:254531
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a... OMIM:619260
Autosomal Dominant Spastic Paraplegia Type 29
Hearing impairment, Hyperbilirubinemia ORPHA:101009
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Dystonia, Hypercholes... OMIM:277460
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hype... ORPHA:79303
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hyperbilirubinemia, Hypo... ORPHA:542323
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Fatigable weakness of bulbar muscles, Atrial fibrillation,... ORPHA:273
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Joint contracture of the 5th finger, Long eyebrows, Intention tremor, Macrotia, Dyst... OMIM:614407
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Dengue Fever
Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Epistaxis, Cerebral hemorrhage ORPHA:99828
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Synophr... OMIM:182290
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Dystonia, Hyperma... OMIM:613280
Desminopathy
Congestive heart failure, Fatigable weakness of respiratory muscles, Concentric hypertrophic card... ORPHA:98909
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98855
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Abnormality of the hairline, Abnormal cortical bone morphology, Elevated circ... OMIM:614886
Temple Syndrome
Hypertriglyceridemia, Recurrent otitis media, Posteriorly rotated ears, Flexion contracture, Join... OMIM:616222
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Increased circulating ferritin concentration, Hyperhomocystinemia OMIM:601775
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Opisthotonus, Increased serum bile acid concentration OMIM:619685
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98853
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Sensorineural hearing impairment, Sparse scalp hair, Absent eyebrow, Sparse e... OMIM:619075
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia ORPHA:2494
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, Dilated cardi... OMIM:601419
Glycogen Storage Disease Vii
Increased total bilirubin, Elevated circulating creatine kinase concentration, Gout, Hyperuricemia OMIM:232800
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98863
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Tachycardia ORPHA:90037
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Increased circulating ferritin concentration, Absent brainstem auditory response... ORPHA:3240
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia, Pulmonary embolism, Budd-Chiari syndrome OMIM:226300
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Osteolysis involving bones o... ORPHA:464321
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Premature ventri... OMIM:212138
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Portal hypertension, Elevated circulating alpha-fetoprot... OMIM:619662
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Elevated circulating... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Relapsing Fever
Elevated circulating C-reactive protein concentration, Hypotension, Increased total bilirubin, Ep... ORPHA:91547
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Thick hair, Highly arched eyebrow, Renovascular hypertension, Dilated cardi... ORPHA:401923
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Hypoproteinemia, Abnormal hair pattern, Alopecia ORPHA:2315
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, ... OMIM:227810
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Decreased circulating cortisol level, Red hair OMIM:609734
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Hypocalcemia, Hyperbilirubinemia, Increased b... OMIM:259720
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Nail dystrophy, Hypoproteinemia, Cardiomyopathy, Elevated circulating c... OMIM:615895
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiology, Arrhythmia ORPHA:85447
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Low-set ... OMIM:608836
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Mandibuloacral Dysplasia
Hypertriglyceridemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of d... ORPHA:2457
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Pulmonary emboli... ORPHA:567548
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Galactokinase Deficiency
Sensorineural hearing impairment, Increased level of galactitol in plasma, Hypergalactosemia, Hyp... ORPHA:79237
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Protruding ear, Sensorineural hearing impairment, Joint hypermobility, EEG abnormalit... ORPHA:2479
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Cog4-Cdg
Hypercholesterolemia, Thick hair ORPHA:263501
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration, Hematochezia OMIM:214950
Lissencephaly Due To Lis1 Mutation
EEG with spike-wave complexes, Hypsarrhythmia, Opisthotonus, Neonatal hyperbilirubinemia, EEG wit... ORPHA:95232
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension ORPHA:64743
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capaci... ORPHA:98870
Wilson Disease
Decreased nerve conduction velocity, Decreased circulating ceruloplasmin concentration, Joint hyp... OMIM:277900
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Low-set ears, Hypertrichosis OMIM:235255
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Smith-Magenis Syndrome
Hypertriglyceridemia, Chronic otitis media, Synophrys, Joint stiffness, Conductive hearing impair... ORPHA:819
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic iron concentration, Increased circulating ferritin concentration, Conjugated hyp... OMIM:616860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec... OMIM:616812
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased nerve conduction velocity, Hypopigmentation of hair, Hypoproteine... ORPHA:167
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, E... OMIM:248370
Abetalipoproteinemia
Osteopenia, Congestive heart failure, Decreased HDL cholesterol concentration, Steatorrhea, Hypot... ORPHA:14
Kearns-Sayre Syndrome
Hearing impairment, Third degree atrioventricular block ORPHA:480
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Sensorineural hearing impairment, Optic atrophy, Conjugated hyperbilirubinemia ORPHA:294
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Athetosis, Hypertension, Pulmonary arterial hypertension, Tinnitus, Epistaxis, Intra... ORPHA:369929
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... OMIM:601005
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyseal ossificati... ORPHA:90673
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Recurrent otitis media, Hypercholesterolemia ORPHA:96184
Graft Versus Host Disease
Limited elbow movement, Dupuytren contracture, Hyperbilirubinemia, Arthritis, Tachycardia, Limite... ORPHA:39812
Distal Xq28 Microduplication Syndrome
Absent antihelix, Microtia, Epistaxis, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eye... ORPHA:293939
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat... OMIM:614866
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased circulating NT-proBNP concentration, Right axis deviati... OMIM:232300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Sensorineural hearing impairment, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum ... OMIM:617093
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level, Athetosis, Hypertension, Pulmonary arterial hyper... OMIM:615474
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hy... OMIM:617156
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Bradycardia OMIM:619814
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Lathosterolosis
Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Osteoporosis OMIM:607330
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia OMIM:609727
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment agang... OMIM:609136
Neuhauser Syndrome
Osteopenia, Low anterior hairline, Large fleshy ears, Hypercholesterolemia, Cupped ear OMIM:249310
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea... ORPHA:90674
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Low-set ears, Hypertrichosis ORPHA:1655
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Angina pectoris, Incr... ORPHA:412
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Wolcott-Rallison Syndrome
Hyperammonemia, Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Orthostatic hypotension, Oste... ORPHA:186
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Low-set ears, Conjugated hyperbilirubinemia OMIM:613404
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Prolonged QT interval, Tremor, Episodic hypokalemia, Ve... ORPHA:79102
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Omenn Syndrome
Hypoproteinemia, Alopecia OMIM:603554
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R... OMIM:115197
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Hypoalbuminemia, EEG abnormality, Second degree at... OMIM:617021
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Osteopo... ORPHA:264580
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Arthritis,... OMIM:210250
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, O... ORPHA:79240
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased LDL cholest... OMIM:278000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Hearing impairment, Arthrogryposis multiplex congenita, Low-set ears, Conjugated hyperbilirubinemia OMIM:208085
Rh Deficiency Syndrome
Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea, Hematochezia OMIM:613812
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hypercholesterolemia... OMIM:615812
Cystic Echinococcosis
Hyperbilirubinemia, Bone cyst ORPHA:400
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein ... OMIM:251880
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Anemia, Congenital Dyserythropoietic, Type Iv
Hyperbilirubinemia, Reduced haptoglobin level, Hypertrophic cardiomyopathy, Unconjugated hyperbil... OMIM:613673
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration... OMIM:611881
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Sensorineural hearing impai... ORPHA:99027
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Premature graying of hair, Absent eyelashes, Hype... ORPHA:363618
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Hereditary Spherocytosis
Hyperbilirubinemia, Restrictive cardiomyopathy, Gout ORPHA:822
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Flexion contracture, Exaggerated startle response OMIM:609541
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Autoimmune Hepatitis
Increased total bilirubin, Spider hemangioma, Gastrointestinal hemorrhage, Arthritis ORPHA:2137
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Low-output congestive heart failure, Elevated circula... ORPHA:308552
Fabry Disease
Abnormal circulating lipid concentration, Congestive heart failure, Optic atrophy, Reduced bone m... ORPHA:324
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Multiple joint contractures, Optic disc pallor, Exaggerated startle response ORPHA:320406
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Persistent patent ductus venosus, Hypercholesterolemia, Knee flexion contracture OMIM:620454
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Tremor, Hypertension, Absent brainstem auditory responses,... ORPHA:90321
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hyperoxaluria, Primary, Type I
Optic atrophy, Pathologic fracture, Increased bone mineral density, Hyperoxaluria, Optic neuropat... OMIM:259900
Myotonic Dystrophy 1
Atrial flutter, Frontal balding, Atrial fibrillation, Facial diplegia, First degree atrioventricu... OMIM:160900
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, EEG with burst suppression, ST segment elevation, Cardiomy... OMIM:261740
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Elbow flexion contracture, Low-set ears, Exaggerated startle response, Long eyelas... OMIM:617301
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigable weakness of respiratory muscles, Left ventricular outflow tract obstruction, Vasculitis... ORPHA:365
Sickle Cell Anemia
Ischemic stroke, Pulmonary arterial hypertension, Osteoporosis, Unconjugated hyperbilirubinemia, ... ORPHA:232
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Head titubation, Heart murmur, Joint hypermobility, EEG abnormality, Aortic regurgitation, Hearin... OMIM:619475
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Tay-Sachs Disease
Limited elbow extension, Optic atrophy, Increased serum beta-hexosaminidase, Tremor, Limited knee... ORPHA:845
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A... ORPHA:398124
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Osteopenia, Xanthelasma, Hyperuricemia, Hypertension, Hyperlipidemia, Osteo... ORPHA:79259
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Sensorineural heari... ORPHA:581
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Abnormal hair morphology, Sensorineural heari... OMIM:133540
Prader-Willi Syndrome
Hypertriglyceridemia, Osteopenia, Decreased HDL cholesterol concentration, Osteoporosis, Frontal ... OMIM:176270
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
X-Linked Intellectual Disability, Nascimento Type
Nail dystrophy, Lumbar hypertrichosis, Pulmonary arterial hypertension, Low posterior hairline, H... ORPHA:163956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Elevated circulating creatine kinase concentration, Exaggerated startle response, ... OMIM:253800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Exaggerated startle response, Macrotia, Joint contracture, EEG with gener... OMIM:617864
Degcags Syndrome
Premature graying of hair, Sensorineural hearing impairment, Low posterior hairline, Pulmonic ste... OMIM:619488
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Joint stiffness, Radioulnar synostosis, Atrioventricular block, F... ORPHA:392
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Portal hypertension, Unconjugate... OMIM:613658
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Hypercholesterolemia OMIM:610644
Liver Disease, Severe Congenital
Nail dystrophy, Recurrent otitis media, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hypera... OMIM:619991
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Hypotension, Limb dystonia, Exaggerated... OMIM:608643
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory... ORPHA:909
Stiff-Person Syndrome
Tachycardia, Hypertension, Opisthotonus, Exaggerated startle response OMIM:184850
Ogden Syndrome
Recurrent otitis media, Torticollis, Hyperbilirubinemia, Supraventricular tachycardia, Low-set ea... OMIM:300855
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Hyperextensibility of the finger joints, Microtia, Posteriorly ... ORPHA:163979
Congenital Erythropoietic Porphyria
Osteopenia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Loss o... ORPHA:79277
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Lyme Disease
Atrioventricular block, Arthritis, Arrhythmia ORPHA:91546
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Asparagine Synthetase Deficiency
Hypoasparaginemia, Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, ... OMIM:615574
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Hypertension, Low-set ears, Sparse eyelashes, Sparse eyebrow, Sparse hair, Si... OMIM:613610
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Steatorrhea, Lip telangiectasia, Hyperbilirubinemia, Ray... OMIM:613471
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hirsutism, Hyperchol... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Hyperalaninemia, Low-set ears, Exaggerated startle response, Hyperprolinemia OMIM:620451
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... ORPHA:137675
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Nail dystrophy, Microtia, Bilateral conductive hearing impairment, Low-... OMIM:620186
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Portal hypertension, Hyperlipidemia, Abnormal circulating fatty-ac... ORPHA:567983
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Exaggerated startle response, Hypernatremia, Dystonia, Hyperglycinemia, EEG with ... OMIM:620423
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Bradycardia OMIM:218700
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia ORPHA:69663
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru... ORPHA:99829
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Immunodeficiency 47
Decreased circulating copper concentration, Sensorineural hearing impairment, Tricuspid regurgita... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Wolff-Parkinson-White syndrome, Tremor, Hypertension, Shortened PR interval, Optic... OMIM:614947
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Protruding ear, Low-set, posteriorly rotated ears, Hypokalemia, Arthritis, ... ORPHA:534
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Caroli Syndrome
Hematemesis, Melena, Hyperbilirubinemia, Portal hypertension, Conjugated hyperbilirubinemia ORPHA:480520
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Rickets, Pathologic fracture, Elevated circulating creatine kinase concentration,... OMIM:309000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Shoulder flexion contracture, Hyperbilirubinemia, Microtia, Hype... OMIM:210710
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Hypertension, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating cr... ORPHA:90038
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response, Long eyelashes, Macrotia, Thick eyebrow, EEG abnorma... OMIM:617281
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Protruding ear, Bidirectional shunt, Aortic regurgitation, Hyperbilirubinemia, Cardia... OMIM:619534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Pulmonary insufficiency, Conjugated hyperbilirub... OMIM:208500
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypotension, Pulmonary arterial hyp... ORPHA:275761
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Acitretin/Etretinate Embryopathy
Bradycardia, Microtia, Bilateral sensorineural hearing impairment, Third degree atrioventricular ... ORPHA:40366
Pierson Syndrome
Hypoproteinemia, Hypertension, Retinal hemorrhage OMIM:609049
Hardikar Syndrome
Hematemesis, Mild hearing impairment, Hyperbilirubinemia, Hypertension, Portal hypertension, Oste... OMIM:301068
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response ORPHA:309155
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Abnormal cardiac vent... ORPHA:1677
Hereditary Cryohydrocytosis With Reduced Stomatin
Macrotia, Conjugated hyperbilirubinemia ORPHA:168577
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Caroli Disease
Portal hypertension, Conjugated hyperbilirubinemia ORPHA:53035
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia, Steatorrhea OMIM:557000
Gm1 Gangliosidosis Type 1
Hirsutism, Cardiomyopathy, Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia ORPHA:79255
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Hirsutism, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, C... OMIM:617527
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hypoproteinemia, Transient ischemi... ORPHA:2929
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Aortic valve stenosis, Elevated 8(9)-cholesten... ORPHA:401973
Kearns-Sayre Syndrome
Sensorineural hearing impairment, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hearing impairment OMIM:619658
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Bundle branch block ORPHA:589821
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
Senior-Boichis Syndrome
Increased total bilirubin, Hypertension, Portal hypertension ORPHA:84081
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Neurooculorenal Syndrome
Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment, Decreased circ... OMIM:620305
Bardet-Biedl Syndrome 20
Papilledema, Hypercholesterolemia OMIM:619471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Unconjugated hyperbilirubinemia OMIM:618278
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormal pinna morphology, Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co... OMIM:620066
Meier-Gorlin Syndrome 7
Heart block, Breast aplasia, Sensorineural hearing impairment, Microtia, Low-set ears, Hearing im... OMIM:617063
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Orthostatic hypotension, Hypertension, Low-set ears, Sparse scalp hair, Pul... OMIM:606721
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Homozygous Familial Hypercholesterolemia
Abnormal left ventricular function, Angina pectoris, Increased LDL cholesterol concentration, Hyp... ORPHA:391665
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Arthritis, Elevated circulating C-reactive protein concentration, Conjug... OMIM:620376
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Hypertension, Budd-Chiari syndrome, Unconjugated hyperbilirubinemia, I... ORPHA:447
Congenital Disorder Of Glycosylation, Type Iim
Hypsarrhythmia, Hypertension, Thick eyebrow, Neonatal hyperbilirubinemia OMIM:300896
Acromesomelic Dysplasia 4
Low-set ears, Synophrys, Generalized hirsutism, Thick eyebrow, Third degree atrioventricular bloc... OMIM:619636
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia, Hyperte... OMIM:619573
Alagille Syndrome 1
Hypertriglyceridemia, Macrotia, Hypercholesterolemia, Low-set ears OMIM:118450
Leopard Syndrome 1
Limited elbow movement, Sensorineural hearing impairment, Low-set ears, Hypertrophic cardiomyopat... OMIM:151100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, High anterior hairline, Exaggerated startle response, Osteoporosis, Pulmonic stenosis... ORPHA:438213
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r... OMIM:234700
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypsarrhythmia, Abnormal helix morphology, Abnormal cochlea morphology, Lo... ORPHA:798
Johanson-Blizzard Syndrome
Frontal upsweep of hair, Hypocalcemia, Sensorineural hearing impairment, Hypoplastic nipples, Spa... OMIM:243800
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
African Trypanosomiasis
Myocarditis, Congestive heart failure, Alopecia, Tremor, Abnormality of circulating cortisol leve... ORPHA:3385
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, EEG with generalized slow activity, Exaggerated startle response OMIM:618367
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Jo... OMIM:619522
Holt-Oram Syndrome
Limited elbow extension, Cervical C2/C3 vertebral fusion, Tricuspid regurgitation, Pulmonary arte... OMIM:142900

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term dysplasia Usp53em1(IMPC)Tcp HOM Early adult

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 Usp53.

No publications found that use IMPC mice or data for Usp53.

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MGI Allele Allele Type Produced
Usp53em1(IMPC)Tcp Exon Deletion Mice