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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
decreased prepulse inhibition Usp53em1(IMPC)Tcp HOM Early adult 0.00
abnormal auditory brainstem response Usp53em1(IMPC)Tcp HOM   Early adult 1.96×10-09
increased circulating alkaline phosphatase level Usp53em1(IMPC)Tcp HOM Early adult 8.15×10-14
increased circulating bilirubin level Usp53em1(IMPC)Tcp HOM Early adult 7.16×10-13
increased circulating total protein level Usp53em1(IMPC)Tcp HOM Early adult 2.58×10-05
cataract Usp53em1(IMPC)Tcp HOM Early adult 7.47×10-05
decreased startle reflex Usp53em1(IMPC)Tcp HOM Early adult 7.11×10-06
increased circulating cholesterol level Usp53em1(IMPC)Tcp HOM Early adult 1.78×10-05
decreased bone mineral density Usp53em1(IMPC)Tcp HOM Early adult 6.34×10-14
abnormal startle reflex Usp53em1(IMPC)Tcp HOM Early adult 3.53×10-19
prolonged PR interval Usp53em1(IMPC)Tcp HOM Early adult 1.65×10-09
decreased bone mineral content Usp53em1(IMPC)Tcp HOM Early adult 8.32×10-16
abnormal coat/ hair morphology Usp53em1(IMPC)Tcp HOM Early adult 7.32×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

102 Images

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Eye Morphology

Images Slit Lamp

72 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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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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 speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment 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, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment ORPHA:79234
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemi... OMIM:144300
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolong... ORPHA:542306
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Sudden c... OMIM:310300
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Gout, Elevated diastol... ORPHA:90041
Edinburgh Malformation Syndrome
Frontal hirsutism, Neonatal hyperbilirubinemia OMIM:129850
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia ORPHA:3111
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... ORPHA:231169
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Sudden c... OMIM:181350
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Tremor, Optic atrophy, Hearing impairment OMIM:165300
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Spastic Paraparesis And Deafness
Tremor, Cataract, Hearing impairment OMIM:312910
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations ORPHA:488650
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hypertension, Hyperostosis frontalis interna, Hyperuricemia, Hyperc... ORPHA:77296
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho... ORPHA:29073
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Tremor, Flexion contracture, Hypsarrhythmia, Hypoproteinemia OMIM:608093
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... OMIM:616299
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Neonatal hyperbilirubinemia ORPHA:3363
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... OMIM:609115
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Osteopenia, Fair hair, Congestive heart failure OMIM:269920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Hepatic Lipase Deficiency
Hypertriglyceridemia, Angina pectoris, Corneal arcus, Increased HDL cholesterol concentration, Hy... OMIM:614025
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Congenital Myopathy 24
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Facial palsy, First degree at... OMIM:617336
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Leptospirosis
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv... ORPHA:509
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Hijazi-Reis Syndrome
Astigmatism, Iris coloboma, Hyperbilirubinemia OMIM:301094
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Lymphangiectasia, Intestinal
Abnormal hair morphology, Neonatal hypoproteinemia OMIM:152800
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Hypermagnesemia, Gout, Low-to-normal blood pressure, H... ORPHA:358
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Hypoproteinemia ORPHA:1116
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... OMIM:615184
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... OMIM:208920
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Alopecia, Joint stiffness, Osteoporosis, Increased bone... OMIM:136300
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Iridodonesis, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the iri... ORPHA:2479
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Galactokinase Deficiency
Cataract, Sensorineural hearing impairment, Increased level of galactitol in plasma, Nuclear cata... ORPHA:79237
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... OMIM:616267
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Steinert Myotonic Dystrophy
Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Card... ORPHA:273
Nathalie Syndrome
Abnormal EKG, Cataract, Hearing impairment OMIM:255990
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Increased total iron binding capaci... OMIM:616278
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Sensorineural hearing impairment, Bradycardia, ... ORPHA:95716
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism OMIM:612526
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Bone cyst, Low anterior hairline, Hypertrichosis,... ORPHA:528
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensori... ORPHA:73272
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Osteopenia, Rickets, Epistaxis OMIM:211600
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hearing impairment OMIM:243300
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... ORPHA:529808
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... ORPHA:529799
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyperbilirubinemi... ORPHA:79303
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Atrioventricular block, Prominent antihelix, Bradycardia, Joint contracture of the... OMIM:614407
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia ORPHA:99828
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hearing impairment ORPHA:101009
Neuhauser Syndrome
Osteopenia, Iridodonesis, Cupped ear, Low anterior hairline, Hypoplasia of the iris, Large fleshy... OMIM:249310
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98855
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Tremor, Elevated circulating phytanic acid concentration, Increased circulating very lo... OMIM:614307
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia OMIM:607765
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Fatigable weakness of bulbar muscles, Congesti... ORPHA:98909
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... OMIM:277460
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Wilson Disease
Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Tre... OMIM:277900
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Abno... OMIM:614886
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia ORPHA:713
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma OMIM:603776
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Joint hypermobility ORPHA:254531
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Smith-Magenis Syndrome
Hypertriglyceridemia, Synophrys, EEG abnormality, Hypercholesterolemia, Hearing impairment OMIM:182290
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Temple Syndrome
Hypertriglyceridemia, Posteriorly rotated ears, Flexion contracture, Hypercholesterolemia, Joint ... OMIM:616222
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98853
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Papilledema, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,... ORPHA:371428
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sensorineural hearing impairment, Cupped ear... OMIM:619075
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage ORPHA:2494
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Elevated ... OMIM:608836
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus OMIM:619685
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restricti... OMIM:601419
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... ORPHA:98863
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Gout, Increased total bilirubin OMIM:232800
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma OMIM:144010
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Cataract, Ventricular arrhythmia, Abnormal... ORPHA:36913
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... OMIM:212138
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Johanson-Blizzard Syndrome
Alopecia, Hypoproteinemia, Abnormal hair pattern, Sensorineural hearing impairment ORPHA:2315
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Facial palsy, Cranial hyperostosis, Optic atro... OMIM:259720
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... OMIM:300257
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Cataract, Tricuspid regurgitation, Conjugated hyperbilirubinemia, Brushfiel... OMIM:614866
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ... OMIM:615704
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Thick hair, Highly arched eyebrow, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoart... OMIM:606069
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... OMIM:615895
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Congestive heart failure, Decreased LDL chol... ORPHA:14
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block ORPHA:85447
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Contractures of the ... ORPHA:2457
Smith-Magenis Syndrome
Hypertriglyceridemia, Joint stiffness, Synophrys, Microcornea, EEG abnormality, Conductive hearin... ORPHA:819
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Sickle Cell Anemia
Osteoporosis, Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbil... ORPHA:232
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ... OMIM:227810
Chédiak-Higashi Syndrome
Hyponatremia, Hypopigmentation of hair, Hypertriglyceridemia, Epistaxis, Tremor, Increased circul... ORPHA:167
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Cog4-Cdg
Hypercholesterolemia, Thick hair ORPHA:263501
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia OMIM:616730
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Hypsarrhythmia, Opisthotonus, EEG with spike-wave complexes, Neonata... ORPHA:95232
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hematochezia, Hyperbilirubinemia OMIM:214950
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Gout, Increased L... ORPHA:412
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea OMIM:235555
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Osteopenia, Alopecia, Sparse scalp hair, Joint stiffness, Hyperlipidemia, Flexion con... OMIM:248370
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Hepatoportal Sclerosis
Portal hypertension, Hypoalbuminemia, Hyperbilirubinemia, Gastrointestinal hemorrhage ORPHA:64743
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Low-set ears, Hypertrichosis OMIM:235255
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Sh... ORPHA:79102
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hyperten... ORPHA:1345
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... OMIM:609049
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Athetosis, Hypokalemia, Hyperaldosteronism, Dexamethasone-sup... ORPHA:369929
Myotonic Dystrophy 1
Atrial flutter, Cataract, Atrial fibrillation, Frontal balding, First degree atrioventricular blo... OMIM:160900
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Lathosterolosis
Cataract, Osteoporosis, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Opaci... OMIM:607330
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Redu... ORPHA:324
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Cataract, Sensorine... OMIM:162400
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Corneal ar... OMIM:210250
Kearns-Sayre Syndrome
Third degree atrioventricular block, Hearing impairment ORPHA:480
Graft Versus Host Disease
Dupuytren contracture, Tachycardia, Limited elbow movement, Limited shoulder movement, Arthritis,... ORPHA:39812
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Hypocalcemia... OMIM:601005
Distal Xq28 Microduplication Syndrome
Epistaxis, Microtia, Absent antihelix, Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eye... ORPHA:293939
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Hypokalemia, Hypertension, Second degree atrioventricular block, Primary hyperaldoster... OMIM:615474
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Conjugated hyperbilirubinemia, Sensorineural hearing impairment, Hyperammonemia, De... OMIM:617093
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia, Low-set ears, Hypertrichosis ORPHA:1655
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... OMIM:617156
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia, Opisthotonus OMIM:619814
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Tremor, Hyperammonemia, Hyperproli... ORPHA:3008
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Joint hypermobility ORPHA:96184
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Bradycardia, Hypercholesterolemia, Abnormal cir... ORPHA:90674
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia OMIM:609727
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Low-set ears OMIM:613404
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Sensorineural hearing... OMIM:612674
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Omenn Syndrome
Alopecia, Hypoproteinemia OMIM:603554
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Osteoporosis, Hypoal... ORPHA:186
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Foot joint contracture, Tremor, Optic atrophy, Hyp... ORPHA:90321
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal hair morphology, Hyperornithinemia, Subcapsular cataract, Hearing impairment ORPHA:414
Hypothyroidism Due To Tsh Receptor Mutations
Delayed proximal femoral epiphyseal ossification, Bradycardia, Increased circulating thyroglobuli... ORPHA:90673
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Osteopenia, Hypertriglyceridemia, Hyper... ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Cardiomyo... ORPHA:264580
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, EEG abnormality, Hypoalbuminemia, Pulmonary a... OMIM:617021
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyper... OMIM:251880
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Osteoporosis, Elevated circulating creatine kinase co... ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Posterior embryotoxon, Increased circulating very long-chain fatty... OMIM:614887
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hyperbilirubinemia, Steatorrhea OMIM:613812
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Increased LDL... OMIM:278000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita, Low-set ears, Hearing impairment OMIM:208085
Cystic Echinococcosis
Bone cyst, Hyperbilirubinemia ORPHA:400
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Dilat... OMIM:253800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Heart ... OMIM:615418
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Abnormal hair m... OMIM:133540
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia... OMIM:611881
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... OMIM:309000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Hearing impairment OMIM:620327
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hypertrophic cardiomyopathy, Reduced haptoglobin level, Hyperbil... OMIM:613673
Rh Deficiency Syndrome
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Synophrys, Protruding ear, Juvenile cataract, Iris coloboma, Intention tremor, Joint laxity, Hyps... OMIM:619475
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas... ORPHA:3202
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Mucopolysaccharidosis Type 3
Synophrys, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Coarse hair... ORPHA:581
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia OMIM:608885
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Optic neuropathy, Raynaud phenomenon, Arterial occ... OMIM:259900
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Congestive heart failure, Intracranial he... ORPHA:363618
Hereditary Spherocytosis
Restrictive cardiomyopathy, Gout, Hyperbilirubinemia ORPHA:822
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... ORPHA:137675
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Dilated cardiomyopathy OMIM:618348
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Generalized hirsutism, Developmental catar... ORPHA:163956
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Diaphyseal sclerosis... ORPHA:94089
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy OMIM:609541
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating creatine kinase concentration, Left ventricular outflow tract obstruction, S... ORPHA:308552
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Arthritis, Spider hemangioma, Increased total bilirubin ORPHA:2137
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Osteoporosis, Xanthelasma, A... OMIM:213700
Premature Aging Syndrome, Okamoto Type
Cataract, Abnormal pinna morphology, Abnormal hair morphology, Osteoporosis, Low-set ears OMIM:601811
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Loss of eye... ORPHA:79277
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy ORPHA:320406
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Macrotia, Cataract, Zonular cataract ORPHA:168577
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... ORPHA:251061
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Elevated circulating creatine kinase concentration, Vasculitis, Flexio... ORPHA:365
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Hyperlipidemia, Flexion contra... ORPHA:90153
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Hyponatremia, Low-set, pos... ORPHA:534
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Cerebrotendinous Xanthomatosis
Osteopenia, Resting tremor, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropa... ORPHA:909
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Cockayne Syndrome A
Hip contracture, Dry hair, Cataract, Abnormal pinna morphology, Abnormal auditory evoked potentia... OMIM:216400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Osteoporosis, Gout, Increased suscep... ORPHA:79259
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Werner Syndrome
Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral densi... OMIM:277700
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Cadds
Sensorineural hearing impairment, Cataract, Increased circulating very long-chain fatty acid conc... ORPHA:369942
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dystoni... ORPHA:845
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Joint stiffness, Atrioventri... ORPHA:392
Degcags Syndrome
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, Abnormal eyelash morphol... OMIM:619488
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Fumarase Deficiency
Conjunctival icterus, Optic atrophy, Hyperbilirubinemia OMIM:606812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Posteriorly rotated ears, Heart murmur, Intracranial hem... ORPHA:163979
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Dry hair, Elevated circulating alpha-fetoprotein concentration, Incre... OMIM:619991
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Joint contracture, Macrotia, EEG with gener... OMIM:617864
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy OMIM:610644
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Portal hypertension, Rickets, Reduced bone mineral density, Hypoalbumin... OMIM:613658
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Ogden Syndrome
Torticollis, Sparse eyebrow, Ventricular tachycardia, Premature ventricular contraction, Fine hai... OMIM:300855
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Absent nipple, Facial palsy, Progressive sensorineural hearing impairme... OMIM:620186
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Cataract, Posteriorly rotated ears, Prominent ear helix, Developmental glaucoma, Flex... OMIM:614438
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Lyme Disease
Arthritis, Arrhythmia, Atrioventricular block ORPHA:91546
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Stiff-Person Syndrome
Hypertension, Exaggerated startle response, Tachycardia, Opisthotonus OMIM:184850
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Cataract, First degree atrioventricular block ORPHA:589821
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Cranioectodermal Dysplasia 2
Joint laxity, Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Hypertension, Hyperbilirubinemi... OMIM:613610
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus, Hematemesis, Melena, Hy... ORPHA:480520
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Caroli Disease
Conjugated hyperbilirubinemia, Conjunctival icterus, Abnormal circulating alpha-fetoprotein conce... ORPHA:53035
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Acitretin/Etretinate Embryopathy
Cupped ear, Antecubital pterygium, Microtia, Third degree atrioventricular block, Bradycardia, Bi... ORPHA:40366
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hypercholesterolemia... OMIM:151660
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... ORPHA:521426
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Cataract, Recurrent fractures, Sensorineural hearing impairment, Rickets, Opti... OMIM:268315
Mend Syndrome
Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole... ORPHA:401973
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiec... OMIM:613471
Alagille Syndrome 1
Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, Macrotia, Microcornea, A... OMIM:118450
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Immunodeficiency 47
Tricuspid regurgitation, Decreased circulating copper concentration, Sensorineural hearing impair... OMIM:300972
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Portal hypertension, Hyperlipidemia, Abnormal circulating fatty-ac... ORPHA:567983
Yellow Fever
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... ORPHA:99829
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Tremor, Optic atrophy, Shortened PR interval, ... OMIM:614947
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Hypertension ORPHA:69663
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Cataract, Hypertriglyceridemia, Developmental catarac... OMIM:606721
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Astigmatism, Papilledema OMIM:619471
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, Hyperbilirubinemia, Steatorrhea OMIM:557000
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy, EEG abnormality, Long eyelashes, Macrotia, Thick eye... OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... OMIM:619534
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Pulmonary insufficiency, Early ossification of capital femoral epi... OMIM:208500
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Hypovolemia, Xanthelasma, Pulmonary arterial hy... ORPHA:275761
Hardikar Syndrome
Portal hypertension, Hematemesis, Osteoporosis, Hypertension, Hyperbilirubinemia, Mild hearing im... OMIM:301068
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... ORPHA:90038
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Neurooculorenal Syndrome
Iris atrophy, Decreased circulating cortisol level, Mixed hearing impairment, Highly arched eyebr... OMIM:620305
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Cardiomyopathy, Low-set ears, Dystonia, Macrotia, Hirsutism, Hearin... ORPHA:79255
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral regurgitation ORPHA:309155
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Third degree atrioventricular block, Sensorineural hearing impairment OMIM:530000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hearing impairment OMIM:619658
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Contractures of the large ... OMIM:617527
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Senior-Boichis Syndrome
Hypertension, Portal hypertension, Increased total bilirubin ORPHA:84081
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Meier-Gorlin Syndrome 7
Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Heart block, Sensorineural hearing imp... OMIM:617063
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Xanthelasma ORPHA:30391
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Myocardial infarction, Pulmonary embolism, Conjunctival icterus, Hypertensi... ORPHA:447
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Hyperlipidemia, H... ORPHA:391665
Autosomal Dominant Optic Atrophy And Cataract
Resting tremor, Anterior subcapsular cataract, Cataract, Postural tremor, Posterior cortical cata... ORPHA:67036
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Neonatal hyperbilirubinemia, Thick eyebrow, Hypsarrhythmia OMIM:300896
Acromesomelic Dysplasia 4
Synophrys, Third degree atrioventricular block, Low-set ears, Generalized hirsutism, Thick eyebro... OMIM:619636
African Trypanosomiasis
Abnormal EKG, Pericarditis, Alopecia, Papilledema, Tremor, Keratitis, Myocarditis, Congestive hea... ORPHA:3385
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilated cardiomyopat... OMIM:619573
Leopard Syndrome 1
Bundle branch block, Posteriorly rotated ears, Limited elbow movement, Sensorineural hearing impa... OMIM:151100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Optic disc pallor, Decreased serum iron, ... ORPHA:438213
Johanson-Blizzard Syndrome
Joint laxity, Sparse scalp hair, Increased VLDL cholesterol concentration, Portal hypertension, C... OMIM:243800
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, La... ORPHA:798
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... ORPHA:649
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Thick eyebrow, EEG with generalized slow activity OMIM:618367
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Heart Block, Congenital
Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria... OMIM:234700
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe, Jo... OMIM:619522

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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