Gene Summary

ubiquitin specific peptidase 53
Sp6,  Phxr3,  mbo

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 bilirubin level Usp53em1(IMPC)Tcp HOM Early adult 6.35×10-11
decreased startle reflex Usp53em1(IMPC)Tcp HOM Early adult 5.97×10-06
decreased bone mineral content Usp53em1(IMPC)Tcp HOM Early adult 3.45×10-17
cataract Usp53em1(IMPC)Tcp HOM Early adult 7.84×10-05
decreased prepulse inhibition Usp53em1(IMPC)Tcp HOM Early adult 0.00
abnormal coat/ hair morphology Usp53em1(IMPC)Tcp HOM Early adult 9.64×10-08
abnormal startle reflex Usp53em1(IMPC)Tcp HOM Early adult 5.54×10-18
prolonged PR interval Usp53em1(IMPC)Tcp HOM Early adult 6.28×10-10
increased circulating total protein level Usp53em1(IMPC)Tcp HOM Early adult 1.98×10-05
abnormal auditory brainstem response Usp53em1(IMPC)Tcp HOM   Early adult 3.55×10-09
decreased bone mineral density Usp53em1(IMPC)Tcp HOM Early adult 3.95×10-14
increased circulating alkaline phosphatase level Usp53em1(IMPC)Tcp HOM Early adult 1.02×10-13

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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


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

102 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images



8 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


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
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
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, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:601068
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... ORPHA:542306
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Axonal degeneration... OMIM:601596
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Hearing impairment, Tremor, Cataract OMIM:165300
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, EEG abnormality, Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:617519
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia, Cataract ORPHA:2663
Spastic Paraparesis And Deafness
Tremor, Cataract, Hearing impairment OMIM:312910
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Gout, Hyperuricemia, Hyperchol... ORPHA:90041
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Elevated circulating creatine kinase concentration, Atrioventricular block, Achilles tendon contr... OMIM:310300
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Osteopenia, Patho... ORPHA:29073
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Vestibular hypofunction, Cerebral... ORPHA:231169
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... ORPHA:52368
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia, Tachycardia OMIM:221400
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Hearing impairment ORPHA:95433
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Cataract, Flexion contracture OMIM:608093
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Decreased movement range in interphalangeal j... OMIM:609115
Hypermethioninemia Due To Adenosine Kinase Deficiency
Sensorineural hearing impairment, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Congestive heart failure, Fair hair, Osteopenia OMIM:269920
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hyperbilirubinemia OMIM:613673
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Conjunctival hyperemia, Hyperproteinemia, Pericarditis, Subconjunctival hemorrhage, Pulmonary hem... ORPHA:509
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Red hair OMIM:609734
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Flynn-Aird Syndrome
Increased bone density with cystic changes, Alopecia of scalp, Osteoporosis, Alopecia, Increased ... OMIM:136300
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation OMIM:108900
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Hypokalemia, Palpitations, ST ... ORPHA:358
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Lymphangiectasia, Intestinal
Abnormal hair morphology, Neonatal hypoproteinemia OMIM:152800
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Abnormal hair quantity ORPHA:1116
Nathalie Syndrome
Abnormal EKG, Cataract, Hearing impairment OMIM:255990
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Gastrointestinal hemorrhage, Hypermethionin... ORPHA:247598
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Cataract, Hearing impairment ORPHA:401830
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Elevated circulating creatine kin... ORPHA:26793
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Neonatal hyperbilirubinemia, Congenital sensorineural hearing impairment, ... ORPHA:73272
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal circulati... ORPHA:95716
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Hyperbilirubinemia, Increased total... OMIM:616278
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Refractory Celiac Disease
Hypoproteinemia, Osteoporosis, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Fatigable weakness of bulbar muscles, Posterior subcapsular cataract, Atr... ORPHA:273
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Hypercholestero... ORPHA:247585
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529799
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract, Flexion contracture OMIM:613154
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Conjugated hyperbilirubinemia, Osteopenia, Rickets OMIM:211600
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hearing impairment OMIM:243300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Elevated circulating creatinine concentration, Hyperbilirubinemia, Hea... ORPHA:542323
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... ORPHA:107
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the hairline, Abnormal cortical bone morphology, Elevated circulating long chain f... OMIM:614886
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Epistaxis, Gastrointestinal hemorrhage, Hypotension ORPHA:99828
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract, Decreased circulating ceruloplasmin concentration, Hearing impa... OMIM:614482
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Rickets ORPHA:79303
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Concentric hypertrophic cardiomyopathy, Fatigable weakness of bulbar muscles, Atrioventricular bl... ORPHA:98909
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Long eyelashes, Intention tremor, Cataract, Camptodactyly of finger, Abnormality of... ORPHA:48431
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Abnormal circulating lipid concentration, Sensorineura... ORPHA:225
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Osteopetrosis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Bachmann-Bupp Syndrome
Sparse eyelashes, Absent eyebrow, Hyperbilirubinemia, Sparse scalp hair, Sensorineural hearing im... OMIM:619075
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration OMIM:601775
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Hypermanganesemia With Dystonia 1
Tremor, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Rickets OMIM:607765
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:2494
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Decreased plasma free carnitine, Antenatal intracerebral hemorrhage, Elev... OMIM:608836
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Hirsutism, Osteolysis involving bones of the lower limbs, Atrioventricular block, I... ORPHA:371428
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypercholesterolemia, Hypoalbuminemia, Incre... ORPHA:86816
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Omenn Syndrome
Hypoproteinemia, Alopecia OMIM:603554
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Pierson Syndrome
Microcoria, Hypoproteinemia, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypopl... OMIM:609049
Glycogen Storage Disease Vii
Gout, Increased total bilirubin, Hyperuricemia OMIM:232800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Budd-Chiari syndrome, Pulmonary embolism, Hypoalbuminemia OMIM:226300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Elevated circulating creatine kinase concentration, Cardiomyopathy, Cataract OMIM:615352
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Cataract, Hypertrophic cardiomyopathy OMIM:608810
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Sudden cardiac death, Ventricular escape rhythm, Increased LDL cholestero... ORPHA:98855
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Macrotia, Bradycardia, Intention tremor, Prominent antihelix, Joint contr... OMIM:614407
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Hip contracture, Retin... ORPHA:464321
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Hemochromatosis, Type 4
Elevated transferrin saturation, Cardiomyopathy, Increased circulating ferritin concentration, Ca... OMIM:606069
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... ORPHA:3240
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteoporosis, Unconjugated hyperbilirubinemia, Ost... ORPHA:232
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhy... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhy... ORPHA:98853
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Cataract, Congestive heart failure, Pulmonary embolism... ORPHA:1345
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia, Hypsarrhythmia, EEG with changes in voltage, EEG with ... ORPHA:95232
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhythm, Increased LDL chole... ORPHA:98863
Relapsing Fever
Elevated circulating creatinine concentration, Epistaxis, Increased total bilirubin, Tachycardia,... ORPHA:91547
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Sinus bradycardia, Elevated circulating creatine kinase concentration, Atrioventricular ... OMIM:616812
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Hypoproteinemia, Alopecia, Abnormal hair pattern ORPHA:2315
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Hand tremor, Decreased sensory nerve conduction veloci... OMIM:162400
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Epistaxis, Decreased nerve conduction velocity, Tremor, Increased ... ORPHA:167
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Myotonic Dystrophy 1
Frontal balding, Atrial fibrillation, Facial diplegia, Atrial flutter, Cataract, First degree atr... OMIM:160900
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Elevated circulating creatine kinase concentration, Atrioventr... OMIM:212138
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Keratoconjunctivitis sicca, Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnorma... ORPHA:14
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Sparse scalp hair, Iris coloboma, Reduced bone mineral density, Cataract, Abnor... ORPHA:2611
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Melena, Increased total iron binding capacity ORPHA:98870
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Lens subluxation, Absent vertebral body mineral... ORPHA:93296
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Alopecia, Cataract OMIM:615704
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Cataract, Reduced bone mineral density ORPHA:2410
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Epistaxis, Absent antihelix, Microtia, Aplasia/Hypoplasia of the eye... ORPHA:293939
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Increased susceptibility to fractures, Crania... ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Prolonged QT interval, Cataract, Flexion cont... OMIM:615351
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita OMIM:613404
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypertrichosis, Hypocalcemia OMIM:235255
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Ventricular arrhythmia, Increa... ORPHA:36913
Graft Versus Host Disease
Arthritis, Hyperbilirubinemia, Tachycardia, Dupuytren contracture, Limited shoulder movement, Sti... ORPHA:39812
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Brad... ORPHA:90673
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... OMIM:616860
Peroxisome Biogenesis Disorder 9B
Sensorineural hearing impairment, Cardiomyopathy, Cataract, Elevated levels of phytanic acid OMIM:614879
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypoproteinemia, Hypocalcemia, Hypoalbuminemia ORPHA:90362
Conductive hearing impairment, Abnormal circulating cholesterol concentration, Osteoporosis, Hype... OMIM:607330
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... ORPHA:1067
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Thyrotoxic Periodic Paralysis
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... ORPHA:79102
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Orthostatic hypotension, Osteoporosis, Conjugated hyper... ORPHA:186
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm... ORPHA:3008
Cockayne Syndrome B
Optic atrophy, Hypertension, Abnormal auditory evoked potentials, Abnormal hair morphology, Dry h... OMIM:133540
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment ORPHA:480
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Optic nerve hypoplasia, Absent brainstem auditory responses, Decrea... ORPHA:101085
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita OMIM:208085
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Hearing impairment, Subcapsular cataract, Cataract, Hyperornithinemia ORPHA:414
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Atrioventricular block, Congenital foot contraction deformities, Flexion contracture, Abnormal at... OMIM:118230
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia OMIM:609727
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Fabry Disease
Hyperlipidemia, Hearing impairment, Reduced bone mineral density, Transient ischemic attack, Hype... ORPHA:324
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Optic atrophy, Hypertension, Absent brainstem audi... ORPHA:90321
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Cystic Echinococcosis
Bone cyst, Hyperbilirubinemia ORPHA:400
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Wolff-Parkinson-White syndrome, Shortened PR ... OMIM:232300
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... ORPHA:99027
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Congenital aphakia, Atrioventricular... ORPHA:137675
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Prolonged QT interval, Hypocalce... ORPHA:94089
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Achilles tendon ... OMIM:615418
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Rh Deficiency Syndrome
Reduced haptoglobin level, Tachycardia, Hyperbilirubinemia ORPHA:71275
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Atrioventricular block, Left bundle branch block, Transient... OMIM:115197
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... ORPHA:3202
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypertrichosis, Hypocalcemia ORPHA:1655
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Hereditary Spherocytosis
Restrictive cardiomyopathy, Gout, Hyperbilirubinemia ORPHA:822
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, Prolonged brainstem audit... ORPHA:206436
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response, Flexion contracture OMIM:609541
X-Linked Intellectual Disability, Nascimento Type
Developmental cataract, Lumbar hypertrichosis, Neonatal hyperbilirubinemia, Nail dystrophy, Pulmo... ORPHA:163956
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Abnormal circulati... ORPHA:90674
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Atrioventricular block, Decreased nerve conduction velocity, Abnormal at... OMIM:118301
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Cataract, Hyperphenylalaninemia ORPHA:79254
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Low-output conge... ORPHA:308552
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Osteoporosis, Facial hypertrichosis, ... ORPHA:79277
Cockayne Syndrome A
Optic atrophy, Hypertension, Abnormal auditory evoked potentials, Dry hair, Abnormality of the pi... OMIM:216400
Hereditary Cryohydrocytosis With Reduced Stomatin
Zonular cataract, Conjugated hyperbilirubinemia, Macrotia, Cataract ORPHA:168577
Autoimmune Hepatitis
Spider hemangioma, Gastrointestinal hemorrhage, Arthritis, Increased total bilirubin ORPHA:2137
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Osteoporosis, Abnormality of the pinna, Cataract OMIM:601811
Mucopolysaccharidosis Type 3
Hirsutism, Reduced bone mineral density, Hearing impairment, Opacification of the corneal stroma,... ORPHA:581
Fine hair, Brittle hair, Abnormal eyebrow morphology, Cataract, Slow-growing hair, Patchy alopeci... ORPHA:573
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Hyperoxaluria, Atrioventricular block, Raynaud phenomenon, Patho... OMIM:259900
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Osteoporosis, He... ORPHA:365
Cerebrotendinous Xanthomatosis
Abnormality of central somatosensory evoked potentials, Optic disc pallor, Abnormal circulating c... OMIM:213700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Elevated circulating creatine kinase concentration, Exagge... OMIM:253800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Hearing impairment, Iris coloboma, Protruding ear, Aortic regurgitation, Intent... OMIM:619475
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Hereditary Elliptocytosis
Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Muscle-Eye-Brain Disease
Elevated circulating creatine kinase concentration, Optic atrophy, Cataract, EEG abnormality ORPHA:588
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Degcags Syndrome
Hearing impairment, Low posterior hairline, Abnormal eyelash morphology, Premature graying of hai... OMIM:619488
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Hyperbilirubinemia, Posteriorly rotated ears, Hypocalcemia, Microtia, Hy... ORPHA:163979
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Hip contracture, Long eyelashes, Arthrogryposis multiplex congenita, Exaggerated s... OMIM:617301
Cranioectodermal Dysplasia 2
Hypertension, Sparse eyelashes, Craniosynostosis, Abnormality of the pinna, Hyperbilirubinemia, S... OMIM:613610
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Atrioventricular block, Heart block, Abnormal elec... ORPHA:398124
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Alopecia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis ... ORPHA:90153
Trisomy 10P
Abnormal auditory evoked potentials, Low voltage EEG, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... ORPHA:909
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Hypokalemia, Epistaxis, Pulmonary arterial hypertension, T... ORPHA:369929
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypoalbuminem... ORPHA:88673
Caroli Syndrome
Hematemesis, Hyperbilirubinemia, Melena, Conjugated hyperbilirubinemia, Conjunctival icterus, Por... ORPHA:480520
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Raynaud phenomenon, Gastrointestinal hemorrhage, Palmar telangiec... OMIM:613471
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Cataract, Hematochezia, Elevated circulating creatine kinase concentration ORPHA:79095
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Unconjugated hyperbilirubinemia, Rickets, Hypocalcemia, Reduced bone mineral de... OMIM:613658
Lyme Disease
Atrioventricular block, Arrhythmia, Arthritis ORPHA:91546
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Holt-Oram Syndrome
First degree atrioventricular block, Atrioventricular block, Joint stiffness, Paroxysmal atrial f... ORPHA:392
Yellow Fever
Shock, Reduced ejection fraction, Elevated circulating creatine kinase concentration, Elevated ci... ORPHA:99829
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia, Antecubital pterygium, Bilateral sensorineural ... ORPHA:40366
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Cataract, Osteopenia OMIM:617913
Stiff-Person Syndrome
Hypertension, Opisthotonus, Exaggerated startle response, Tachycardia OMIM:184850
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Elevated circulating creatine kinase concentration, EEG with focal spike waves, Cataract, Buphtha... ORPHA:370997
Caroli Disease
Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus ORPHA:53035
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypertension, Unconjugated hyperbilirubinemia, Hypokalemia, Elevated circulating cr... ORPHA:90038
Tay-Sachs Disease
Optic atrophy, Limited knee extension, Exaggerated startle response, Hearing impairment, Tremor, ... ORPHA:845
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Bidirectional shunt, Elevated circulating creatinine concentration, Aortic r... OMIM:619534
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Congestive heart failure, Shortened PR interval, Hypotension OMIM:261740
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Conjugated hyperbilirubinemia, Early ossification of capital femoral epi... OMIM:208500
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Gastrointestinal hemorrhage... OMIM:229600
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Parenteral Nutrition-Associated Cholestasis
Portal hypertension, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia... ORPHA:567983
Asparagine Synthetase Deficiency
Hypsarrhythmia, Macrotia, Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Hirsutism, Low-set, posteriorly rotated ears, Exaggerated startle response, Hypsar... ORPHA:521426
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Ca... ORPHA:401973
Isolated Ectopia Lentis
Hypertension, Ectopia lentis, Cataract, Joint stiffness, Ectopia pupillae ORPHA:1885
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... ORPHA:1677
Hardikar Syndrome
Hypertension, Hematemesis, Osteoporosis, Hyperbilirubinemia, Portal hypertension, Mild hearing im... OMIM:301068
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hearing impairment OMIM:619658
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Elevated circulating creatine kinase concentration, Cardiomyopathy, Fatigable weakness of bulbar ... ORPHA:363623
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia, Hyperbilirubinemia OMIM:218700
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Dent Disease
Thin bony cortex, Rickets, Elevated circulating creatine kinase concentration, Delayed epiphyseal... ORPHA:1652
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Kearns-Sayre Syndrome
Sensorineural hearing impairment, Cardiomyopathy, Third degree atrioventricular block, Arrhythmia OMIM:530000
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Senior-Boichis Syndrome
Hypertension, Portal hypertension, Increased total bilirubin ORPHA:84081
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Hypertension, Unconjugated hyperbilirubinemia, Budd-Chiari syndrome, D... ORPHA:447
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Epiphyseal stippling, Coarse hair, Knee flexion contracture, Cataract, Sparse hair OMIM:118650
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm1 Gangliosidosis Type 1
Hirsutism, Macrotia, Cardiomyopathy, Exaggerated startle response, Hearing impairment ORPHA:79255
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Hirsutism, Posteriorly rotated ears, Exaggerated startle response, Contractures of... OMIM:617527
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Juvenile Polyposis Syndrome
Hypoproteinemia, Epistaxis, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension, Ex... ORPHA:2929
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Thick eyebrow, Hypsarrhythmia, Neonatal hyperbilirubinemia OMIM:300896
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subca... ORPHA:67036
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response, Hypotension OMIM:608643
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Acromesomelic Dysplasia 4
Third degree atrioventricular block, Hypertrichosis, Thick eyebrow, Generalized hirsutism, Synophrys OMIM:619636
Blau Syndrome
Hypertension, Abnormal cranial nerve morphology, Pericarditis, Flexion contracture of toe, Synovi... OMIM:186580
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Third degree atrioventricular block, Protruding ear, Posteriorly rot... OMIM:151100
Schinzel-Giedion Syndrome
Large earlobe, Infantile sensorineural hearing impairment, Aganglionic megacolon, Abnormal cochle... ORPHA:798
Atrioventricular Septal Defect 3
Hypertension, Pulmonary arterial hypertension, Congestive heart failure, First degree atrioventri... OMIM:600309
Norrie Disease
Optic atrophy, Abnormal cochlea morphology, Macrotia, Sensorineural hearing impairment, EEG abnor... ORPHA:649
African Trypanosomiasis
Myocarditis, Third degree atrioventricular block, Pericarditis, Alopecia, Keratitis, Tremor, Papi... ORPHA:3385
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Hypokalemia, Pulmonary... OMIM:619573
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Osteoporosis, Decreased serum iron, Exaggerated startle response, Osteopenia, ... ORPHA:438213
Heart Block, Congenital
Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Atria... OMIM:234700
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
Posteriorly rotated ears, Exaggerated startle response, Joint hypermobility, Microtia, Small earlobe OMIM:619522


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
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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