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Gene: Usp53 MGI:2139607

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Usp53em1(IMPC)Tcp HOM   Early adult 1.23×10-09
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 bone mineral density Usp53em1(IMPC)Tcp HOM Early adult 6.22×10-14
decreased startle reflex Usp53em1(IMPC)Tcp HOM Early adult 7.11×10-06
increased circulating alkaline phosphatase level Usp53em1(IMPC)Tcp HOM Early adult 8.15×10-14
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
prolonged PR interval Usp53em1(IMPC)Tcp HOM Early adult 2.00×10-11
decreased bone mineral content Usp53em1(IMPC)Tcp HOM Early adult 3.81×10-15
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 Slit Lamp

72 Images

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Histopathology

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

102 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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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
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... 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
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile acid concentration OMIM:619256
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Hearing impairment, Tremor ORPHA:79234
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Gaisböck Syndrome
Elevated diastolic blood pressure, Gout, Hyperuricemia, Hypovolemia, Angina pectoris, Hypercholes... ORPHA:90041
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Edinburgh Malformation Syndrome
Frontal hirsutism, Neonatal hyperbilirubinemia OMIM:129850
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function OMIM:274600
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Decreased HDL cholesterol concentration, Increased LDL cholesterol conc... OMIM:615703
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick sinus syndrome, Prolonge... ORPHA:542306
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration 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
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
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
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Subcortical... ORPHA:231169
Morgagni-Stewart-Morel Syndrome
Action tremor, Hyperuricemia, Hirsutism, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hype... ORPHA:77296
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Elbow flexion contracture, Reduced left v... OMIM:181350
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Hyperproteinemia,... ORPHA:29073
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia ORPHA:488650
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Usher Syndrome Type 3
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231183
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... OMIM:616299
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function OMIM:619553
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia OMIM:607250
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Neonatal hyperbilirubinemia, Sparse hair, Long eyelashes ORPHA:3363
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating cr... OMIM:611705
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Infantile Sialic Acid Storage Disease
Osteopenia, Conjugated hyperbilirubinemia, Fair hair, Congestive heart failure OMIM:269920
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Flexion contracture, Hypoproteinemia, Tremor OMIM:608093
Congenital Myopathy 24
Abnormal circulating creatine kinase concentration, Facial palsy, First degree atrioventricular b... OMIM:617336
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology OMIM:152800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Atrioventricular block, Dilated cardiomyopathy, Hype... ORPHA:26793
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
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
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Bradycardia ORPHA:95717
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Abnormal hair quantity ORPHA:1116
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, Papilledema, First degree atrioventricular block, ... ORPHA:509
Gitelman Syndrome
Hypermagnesemia, Prominent U wave, Hypomagnesemia, Abnormal T-wave, Palpitations, Gout, Hypocalce... ORPHA:358
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... ORPHA:86816
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Portal hypertension, Increased total... OMIM:616278
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Osteoporosis, Hypoproteinemia ORPHA:398063
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Abnormal circulating thyroglobulin... ORPHA:95716
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hearing impairment, Increased serum bile acid concentration OMIM:243300
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hypertrichosis, Low anterior hairline, Low... ORPHA:528
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Congenital sensorineura... ORPHA:73272
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steatorrhea, Conjugated hype... ORPHA:79303
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia, Joint hypermobility ORPHA:254531
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Enlarged cochlear aqueduct, Stenosis ... ORPHA:107
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Steinert Myotonic Dystrophy
Early balding, Alopecia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Prolonged... ORPHA:273
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Prominent antihelix, Joint contracture of the 5th finger, Bradycardia, Lo... OMIM:614407
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating creatinine concentration, Reduced left ventricular ejection fra... ORPHA:542323
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Dengue Fever
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hypoproteinemia ORPHA:99828
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hearing impairment, Abnormal middle ear morphology, Hyperchol... OMIM:182290
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Rickets OMIM:607765
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Fatigab... ORPHA:98909
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hyperbilirubinemia... OMIM:613280
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Ventricular escape rhy... ORPHA:98855
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Temple Syndrome
Recurrent otitis media, Joint hypermobility, Hypercholesterolemia, Hypertriglyceridemia, Flexion ... OMIM:616222
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Abnormality of the hairline, Hyperbilir... OMIM:614886
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Bachmann-Bupp Syndrome
Cupped ear, Hyperbilirubinemia, Sparse eyelashes, Sensorineural hearing impairment, Absent eyebro... OMIM:619075
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia ORPHA:2494
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98863
Glycogen Storage Disease Vii
Gout, Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Increased total bilirubin ORPHA:90037
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Increased circulating... ORPHA:3240
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Budd-Chiari syndrome, Hypoproteinemia, Pulmonary embolism OMIM:226300
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin... OMIM:212138
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Johanson-Blizzard Syndrome
Abnormal hair pattern, Alopecia, Hypoproteinemia, Sensorineural hearing impairment ORPHA:2315
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Dilated cardiomyopathy, Hypercholesterolemia, Thick ... ORPHA:401923
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Fanconi-Bickel Syndrome
Hypouricemia, Rickets, Osteomalacia, Hyperbilirubinemia, Increased serum bile acid concentration,... OMIM:227810
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Attrv30M Amyloidosis
Atrioventricular block, Abnormal autonomic nervous system physiology, Cardiomyopathy, Arrhythmia ORPHA:85447
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Cranial hyperostosis, Hyperbilirubinemia, H... OMIM:259720
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Alopecia, Contractures of the large joints, Acrooste... ORPHA:2457
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Nail dystrophy, E... OMIM:615895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Dilated cardiomyopathy, Increased total bilirubin, Elbow flexion contracture, Eleva... OMIM:608836
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Atrioventricular block, Carpal osteolysis, Osteolysis involving tarsal bones, Increas... ORPHA:371428
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Tremor, Increased serum bile acid concentration ORPHA:69665
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Hypercholesterolem... ORPHA:567548
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Galactokinase Deficiency
Sensorineural hearing impairment, Hypercholesterolemia, Hypergalactosemia, Increased level of gal... ORPHA:79237
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Sensorineural hearing impairment, Protruding ear, Joint hypermobility, Hypercholester... ORPHA:2479
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Cog4-Cdg
Hypercholesterolemia, Thick hair ORPHA:263501
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, EEG with spike-wave complexes, EEG with changes in voltage, Opisthot... ORPHA:95232
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia OMIM:235555
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia OMIM:616730
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension ORPHA:64743
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Melena, Increased total iron bindin... ORPHA:98870
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hand tremor, Osteomalacia, Decreased nerve conduction velocity, Hy... OMIM:277900
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hypoproteinemia, Hypocalcemia, Hypertrichosis OMIM:235255
Smith-Magenis Syndrome
Conductive hearing impairment, Joint stiffness, Hypercholesterolemia, EEG abnormality, Hypertrigl... ORPHA:819
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Chédiak-Higashi Syndrome
Epistaxis, Increased circulating ferritin concentration, Decreased nerve conduction velocity, Lar... ORPHA:167
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Palpitations, Sinus bradycardia, Elevated circulating creat... OMIM:616812
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Alopecia, Sparse scalp hair, Elbow flexion contracture, Joint stiffness, Hyperlipidem... OMIM:248370
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Congestive heart failure, Hypocholesterolemia, ... ORPHA:14
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment ORPHA:480
Timothy Syndrome
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Optic atrophy, Conjugated hyperbilirubinemia, Sensorineural hearing impairment ORPHA:294
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Hypokalemia, Tinnitus, Pulmo... ORPHA:369929
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Hypercholesterolemia, Joint hypermobility ORPHA:96184
Graft Versus Host Disease
Hyperbilirubinemia, Dupuytren contracture, Limited elbow movement, Limited shoulder movement, Art... ORPHA:39812
Distal Xq28 Microduplication Syndrome
Epistaxis, Neonatal hyperbilirubinemia, Absent antihelix, Aplasia/Hypoplasia of the eyebrow, Micr... ORPHA:293939
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat... ORPHA:90673
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Sensorineural hearing impairment, Joint hypermobility, Decreased... OMIM:617093
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Low-set ears, Abnormal helix morphology, Optic atrophy, Hearing impairment,... OMIM:614866
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... ORPHA:3008
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Glycogen Storage Disease Ii
Sinus tachycardia, Hearing impairment, Shortened PR interval, Elevated circulating creatine kinas... OMIM:232300
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Congestive heart failure, Hyperbilirubinemia, Hypertyrosinem... OMIM:617156
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
Lathosterolosis
Osteoporosis, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Neuhauser Syndrome
Osteopenia, Cupped ear, Large fleshy ears, Low anterior hairline, Hypercholesterolemia OMIM:249310
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Hypercholesterolem... ORPHA:90674
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a... OMIM:615474
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Portal hypertension, Hype... ORPHA:186
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hypoproteinemia, Hypocalcemia, Hypertrichosis ORPHA:1655
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Angina pectoris... ORPHA:412
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia OMIM:613404
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Palpitations, Tremor,... ORPHA:79102
Omenn Syndrome
Alopecia, Hypoproteinemia OMIM:603554
Lysinuric Protein Intolerance
Osteopenia, Intraalveolar phospholipid accumulation, Increased circulating ferritin concentration... ORPHA:470
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Cervical spinal cord atrophy, Sensorineural hearing impairme... ORPHA:101085
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Pulmonary arterial hypertension, EEG abnor... OMIM:617021
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertr... 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
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Portal hypertension, Hypertriglyceridemia, Hypercholeste... OMIM:278000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hematochezia, Hyperbilirubinemia OMIM:613812
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Hearing impairment OMIM:208085
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypertension... OMIM:615812
Rh Deficiency Syndrome
Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Portal hypertension, Elevated circulating alpha-fetoprotein ... OMIM:251880
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Cystic Echinococcosis
Hyperbilirubinemia, Bone cyst ORPHA:400
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptogl... OMIM:613673
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Glycogen Storage Disease Xii
Low posterior hairline, Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creat... OMIM:611881
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Alopecia universalis, Congestive heart failure, Premature graying of hair,... ORPHA:363618
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Flexion contracture, Optic atrophy, Exaggerated startle response OMIM:609541
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hyperbilirubinemia, Gout ORPHA:822
Fabry Disease
Optic atrophy, Atrioventricular block, Hearing impairment, Abnormal circulating lipid concentrati... ORPHA:324
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia OMIM:618348
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Arthritis, Increased total bilirubin ORPHA:2137
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Multiple joint contractures, Exaggerated startle response ORPHA:320406
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hypercholesterolemia, Hyperammonemia, Knee flexion contracture OMIM:620454
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Hearing impairment, Abnormality of peripheral nerve conduc... ORPHA:90321
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hearing impairment, Hypertrophic cardiomyopathy, Shortened PR interval, Elevated circulating crea... ORPHA:308552
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hyperoxaluria, Primary, Type I
Optic atrophy, Atrioventricular block, Arterial occlusion, Pathologic fracture, Hyperoxaluria, In... OMIM:259900
Myotonic Dystrophy 1
Frontal balding, Atrial flutter, Facial diplegia, First degree atrioventricular block, Atrial fib... OMIM:160900
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs... OMIM:261740
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Elbow flexion contracture, Long eyelashes, Hip contracture, Joint hy... OMIM:617301
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hearing impairment, Hypertrophic cardiomyopathy, Transient ischemic attack, Elevated ... ORPHA:365
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Ischemic stroke, Pulmonary arterial... ORPHA:232
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hearing impairment, Hyperbilirubinemia, Hypsarrhythmia, Torticollis, Bilateral sensorineural hear... OMIM:619475
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Osteopenia, Xanthelasma, Hyperlipidemia, Pulmonary venous hypertension, Hyperuricemia,... ORPHA:79259
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hearing impairment, Sensorineural hearing impairment, Generalized hirs... ORPHA:581
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Optic atrophy, Hearing impairment, Laryngeal dystonia, Limit... ORPHA:845
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Dry hair, Ivory... OMIM:133540
Prader-Willi Syndrome
Osteopenia, Decreased HDL cholesterol concentration, Frontal upsweep of hair, Hypercholesterolemi... OMIM:176270
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
X-Linked Intellectual Disability, Nascimento Type
Abnormal hair whorl, Neonatal hyperbilirubinemia, Lumbar hypertrichosis, Hearing impairment, Mitr... ORPHA:163956
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
EEG with generalized slow activity, Joint contracture, Exaggerated startle response, Macrotia, Op... OMIM:617864
Holt-Oram Syndrome
Atrioventricular block, Paroxysmal atrial fibrillation, Joint stiffness, Radioulnar synostosis, F... ORPHA:392
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Degcags Syndrome
Low-set ears, Hearing impairment, Premature graying of hair, Hyperbilirubinemia, Unilateral condu... OMIM:619488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Exagge... OMIM:253800
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Rickets, Portal hypertension, Hypocalcemia, Joint hypermobility, Thi... OMIM:613658
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Nail dystrophy, Hypertriglyceridemia OMIM:610644
Liver Disease, Severe Congenital
Dry hair, Increased circulating ferritin concentration, Systolic heart murmur, Recurrent otitis m... OMIM:619991
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerat... OMIM:608643
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Ogden Syndrome
Low-set ears, Sparse eyebrow, Fine hair, Torsade de pointes, Premature atrial contractions, Recur... OMIM:300855
Stiff-Person Syndrome
Tachycardia, Opisthotonus, Hypertension, Exaggerated startle response OMIM:184850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hyperbilirubinemia, Hypocalcemia, Heart murmur, Intracra... ORPHA:163979
Congenital Erythropoietic Porphyria
Osteopenia, Facial hypertrichosis, Abnormal circulating porphyrin concentration, Reduced haptoglo... ORPHA:79277
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Lyme Disease
Arrhythmia, Arthritis, Atrioventricular block ORPHA:91546
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Asparagine Synthetase Deficiency
Hypoasparaginemia, EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated st... OMIM:615574
Cranioectodermal Dysplasia 2
Low-set ears, Sparse eyebrow, Hyperbilirubinemia, Joint hypermobility, Simple ear, Sparse eyelash... OMIM:613610
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Limitation of joint mobility, Dry hair, Ivory... OMIM:216400
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Hyperbilirubinemia, Lip telangiectasia, Rayna... OMIM:613471
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hirsutism, Hypercholesterolemia, Decreased HDL cholesterol concentration, H... OMIM:151660
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response 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, Contractures of the large joints, Low-set, posteriorly rotated ears, Sensorineural... ORPHA:521426
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Parenteral Nutrition-Associated Cholestasis
Portal hypertension, Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-ac... ORPHA:567983
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
Low-set ears, Sparse hair, Sparse eyebrow, Absent nipple, Bilateral conductive hearing impairment... OMIM:620186
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Hyperglycinemia, Hypsarrhythmia, Exaggerated startle response, Dyston... OMIM:620423
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia OMIM:218700
Low Phospholipid-Associated Cholelithiasis
Hypertension, Hypercholesterolemia ORPHA:69663
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Yellow Fever
Shock, Elevated circulating creatinine concentration, Reduced left ventricular ejection fraction,... ORPHA:99829
Immunodeficiency 47
Tricuspid regurgitation, Joint hypermobility, Sensorineural hearing impairment, Hypercholesterole... OMIM:300972
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor, Shortened PR interval, Wolff-Parkinson-White syndrome, Optic disc pallor, ... OMIM:614947
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Oculocerebrorenal Syndrome Of Lowe
Fine hair, Osteomalacia, Hyperaldosteronism, Low-set, posteriorly rotated ears, Joint stiffness, ... ORPHA:534
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Caroli Syndrome
Hyperbilirubinemia, Portal hypertension, Hematemesis, Melena, Conjugated hyperbilirubinemia ORPHA:480520
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Osteomalacia, ... OMIM:309000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Delayed epiphyseal ossification, Sparse eyebrow, Shoulder flexion contracture, Fine... OMIM:210710
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Long eyelashes, Thick eyebrow, EEG abnormality, Exaggerated startle response, Macr... OMIM:617281
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Lysosomal Acid Lipase Deficiency
Hypotension, Xanthelasma, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterolemia, Hy... ORPHA:275761
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Aortic regurgitation, Bidirectional shunt, Low-set ears, Osteopenia, Hearing imp... OMIM:619534
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Early ossification of capital femoral epiphyses, Conjugated hyperbilirub... OMIM:208500
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Bradycardia, Bilateral sensorineural hearing imp... ORPHA:40366
Pierson Syndrome
Retinal hemorrhage, Hypoproteinemia, Hypertension OMIM:609049
Hardikar Syndrome
Mild hearing impairment, Hyperbilirubinemia, Portal hypertension, Hematemesis, Osteoporosis, Hype... 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
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Macrotia ORPHA:168577
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Caroli Disease
Conjugated hyperbilirubinemia, Portal hypertension ORPHA:53035
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hyperbilirubinemia OMIM:557000
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Cardiomyopathy, Hirsutism, Exaggerated startle response, 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
Low-set ears, Optic atrophy, Contractures of the large joints, Hirsutism, Exaggerated startle res... OMIM:617527
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy, Sensorineural hearing impairment OMIM:530000
Juvenile Polyposis Syndrome
Low-set ears, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Transient ischemic attack, Sp... ORPHA:2929
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hearing impairment OMIM:619658
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block ORPHA:589821
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia ORPHA:30391
Senior-Boichis Syndrome
Hypertension, Portal hypertension, Increased total bilirubin ORPHA:84081
Neurooculorenal Syndrome
Highly arched eyebrow, Sensorineural hearing impairment, Decreased circulating cortisol level, Mi... OMIM:620305
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Bardet-Biedl Syndrome 20
Papilledema, Hypercholesterolemia OMIM:619471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... OMIM:620066
Meier-Gorlin Syndrome 7
Low-set ears, Second degree atrioventricular block, Hearing impairment, Breast aplasia, Thin eyeb... OMIM:617063
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Tinnitus, Pulmonary arterial hypertension, Hypercholesterolemia, Orthostatic hypote... OMIM:606721
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Mitral regurgitation, Supravalvular aort... ORPHA:391665
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia, Arthritis, ... OMIM:620376
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pulmonary embolism, Budd-Chiari syndrome, Reduced hapto... ORPHA:447
Congenital Disorder Of Glycosylation, Type Iim
Hypsarrhythmia, Neonatal hyperbilirubinemia, Thick eyebrow, Hypertension OMIM:300896
Acromesomelic Dysplasia 4
Low-set ears, Third degree atrioventricular block, Hypertrichosis, Thick eyebrow, Generalized hir... OMIM:619636
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Hypokalemia, Pulmonary arterial hype... OMIM:619573
Alagille Syndrome 1
Low-set ears, Hypercholesterolemia, Macrotia, Hypertriglyceridemia OMIM:118450
Leopard Syndrome 1
Low-set ears, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch blo... OMIM:151100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Osteopenia, High anterior hairline, Joint hypermobility... ORPHA:438213
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... ORPHA:798
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Fair hair, Portal hypertension, Hypocalcemia, Frontal upsweep of hair, In... OMIM:243800
Norrie Disease
Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sensorineural hearing impair... ORPHA:649
African Trypanosomiasis
Alopecia, Second degree atrioventricular block, Third degree atrioventricular block, Congestive h... ORPHA:3385
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Thick eyebrow, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block OMIM:108800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Joint hypermobility, Exaggerated startle response, Posteriorly rotated ears, Small ... OMIM:619522
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Usp53em1(IMPC)Tcp Exon Deletion Mice
Usp53tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Usp53tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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