Gene: Gria1 MGI:95808

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Gene Summary

Name:
glutamate receptor, ionotropic, AMPA1 (alpha 1)
Synonyms:
GluR1,  GluR-A,  Glr-1,  Glur-1,  Glur1,  GluRA,  Glr1,  2900051M01Rik,  HIPA1,  GluA1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Gria1em1(IMPC)H HOM Middle aged adult 4.19×10-05
decreased heart rate Gria1em1(IMPC)H HOM Late adult 6.56×10-05
increased circulating iron level Gria1em1(IMPC)H HOM Late adult 1.38×10-07
abnormal gait Gria1em1(IMPC)H HOM Late adult 5.80×10-10
decreased exploration in new environment Gria1em1(IMPC)Hmgu HOM Early adult 3.12×10-05
hyperactivity Gria1em1(IMPC)Hmgu HOM Early adult 1.25×10-11
increased circulating alkaline phosphatase level Gria1em1(IMPC)Hmgu HOM Early adult 7.34×10-05
decreased bone mineral content Gria1em1(IMPC)Hmgu HOM Early adult 3.79×10-05
hyperactivity Gria1em1(IMPC)H HOM Early adult 0.00
abnormal locomotor behavior Gria1em1(IMPC)H HOM Early adult 9.72×10-11
decreased exploration in new environment Gria1em1(IMPC)H HOM Late adult 4.49×10-07
decreased vertical activity Gria1em1(IMPC)Hmgu HOM Early adult 8.96×10-07
decreased prepulse inhibition Gria1em1(IMPC)H HOM Early adult 7.59×10-06
prolonged RR interval Gria1em1(IMPC)H HOM Late adult 3.19×10-06
increased circulating serum albumin level Gria1em1(IMPC)H HOM   Late adult 6.85×10-05
increased blood urea nitrogen level Gria1em1(IMPC)H HOM Early adult 1.47×10-07
decreased startle reflex Gria1em1(IMPC)Hmgu HOM Early adult 4.99×10-05
decreased prepulse inhibition Gria1em1(IMPC)Hmgu HOM   Early adult 4.66×10-05
abnormal gait Gria1em1(IMPC)H HOM Early adult 8.72×10-14

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

Human diseases caused by Gria1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gria1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Hyperactivity OMIM:309548
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Emotional lability, Anxiety, Cognitive impairment, Atten... ORPHA:280397
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Alg12-Cdg
Cognitive impairment ORPHA:79324
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618687
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Azotemia, Familial
Azotemia OMIM:109160
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention deficit hyperacti... OMIM:619191
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:606176
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Obsessive-Compulsive Disorder
Skin-picking, Anxiety OMIM:164230
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Polymyoclonus, Infantile
Irritability, Ataxia OMIM:263550
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Mental Retardation, Autosomal Dominant 39
Aggressive behavior OMIM:616521
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability OMIM:615006
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c OMIM:619278
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased... OMIM:618620
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Bradycardia OMIM:616299
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Hypercholesterolemia, Hypoalbuminemia, Ataxia OMIM:607250
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I,... OMIM:615745
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Distal 7Q11.23 Microdeletion Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder ORPHA:254351
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Difficulty walking, Loss of ability to walk, Atrioventricular block, Sinus bradycar... OMIM:616812
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block... OMIM:212138
Glycine Encephalopathy
Lethargy, Irritability, Aggressive behavior, Hyperactivity OMIM:605899
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia, Gait disturbance, Hypertriglyceridemia, Elevated circulating creatine kinase concentr... OMIM:616516
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Bradycardia OMIM:614654
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Spinocerebellar Ataxia 14
Gait ataxia, Progressive cerebellar ataxia, Focal dystonia, Dysmetria, Memory impairment, Mental ... OMIM:605361
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Sotos Syndrome 3
Hyperactivity OMIM:617169
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hypertriglyceridemia, Hyperactivity, Mental deterioration OMIM:615924
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
Dystonia 23
Axial dystonia, Arrhythmia, Gait disturbance, Writer's cramp, Torticollis, Limb dystonia OMIM:614860
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Dementia, Limb ataxia, Ataxia, Hypoa... OMIM:208920
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Hypertension OMIM:603278
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy, Bradycardia ORPHA:95717
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabilit... ORPHA:248111
Muscular Dystrophy, Progressive Pectorodorsal
Elevated circulating creatine kinase concentration, Arrhythmia OMIM:310095
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hyperactivity OMIM:604317
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Congestive heart failure, Bradycardia, Hyperalaninemia OMIM:619048
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Hypercholesterolemia, Hypoalbuminemia, Ataxia ORPHA:94124
Analbuminemia
Hypercholesterolemia, Hypotension, Elevated circulating transferrin concentration, Hypoalbuminemi... OMIM:616000
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Vulto-Van Silfhout-De Vries Syndrome
Poor eye contact, Gait disturbance, Aggressive behavior, Mood swings OMIM:615828
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Congestive heart f... OMIM:613313
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity OMIM:238700
Fraxe Intellectual Disability
Aggressive behavior, Hyperactivity ORPHA:100973
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia OMIM:617248
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Phenylketonuria
Self-mutilation, Aggressive behavior, Irritability, Anxiety, Hyperactivity, Attention deficit hyp... OMIM:261600
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Abnormal social behavior, Aggressive behavior, Hyperactivity ORPHA:101039
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Dementia, Gait disturbance, Bradycardia, Cardiomyopathy OMIM:609286
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Hypoalbuminemia, Broad-based gait OMIM:618805
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Lethargy, Arrhythmia, Congestive heart failure, Dil... OMIM:602390
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypoalbuminemia, Hypertension ORPHA:54370
Timothy Syndrome
Hypocalcemia, Bradycardia, Prolonged QT interval OMIM:601005
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypoalbuminemia, Hypertension ORPHA:84090
Mental Retardation, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Aggressive behavior, Irritability, Abnormal f... ORPHA:3077
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia, Ataxia OMIM:616949
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy OMIM:612999
Hemochromatosis Type 2
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... ORPHA:79230
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Lethargy, Bradycardia ORPHA:95716
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Shock OMIM:600351
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Progressive language deterioration, Hy... OMIM:610042
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Abnormal circulating... ORPHA:217607
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Hypoalbuminemia, Abnormal circulating polysaccharide ... ORPHA:103910
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... ORPHA:98818
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Dystonia, Truncal ataxia, Bradycardia OMIM:614407
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Aceruloplasminemia
Increased circulating ferritin concentration, Dementia, Blepharospasm, Ataxia, Decreased serum ir... OMIM:604290
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive protein concentr... ORPHA:231111
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Dend Syndrome
Elevated hemoglobin A1c ORPHA:79134
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Tetanus
Elevated circulating creatine kinase concentration, Tachycardia, Hypertension, Bradycardia ORPHA:3299
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypocalcemia, Arrhythmia, Hypotension, Hypernatremia, Hypertensive crisis, Hyperuri... ORPHA:94093
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Syncope, Increased C-peptide level, Tachycardia, Decreased circulating fr... ORPHA:276556
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Bradycardia OMIM:610015
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiogen... ORPHA:75565
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Gait ataxia, Akinesia, Decreased circulat... ORPHA:48818
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Hypokalemia, Tachycardia OMIM:613239
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment ORPHA:1020
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Mody
Elevated hemoglobin A1c, Abnormal C-peptide level ORPHA:552
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Elevated c... ORPHA:439232
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Syncope, Increased C-peptide level, Tachycardia, Decreased circulating fr... ORPHA:276575
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Elevated alpha-fetoprotein, Ataxia, Hypoalbuminemia, Elevated cir... ORPHA:64753
Necrotizing Enterocolitis
Lethargy, Hypotension, Hyponatremia, Shock, Bradycardia ORPHA:391673
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hypokalemia, Tachycardia OMIM:188580
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia ORPHA:391417
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Variegate Porphyria
Tachycardia OMIM:176200
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Refractory Anemia With Excess Blasts
Palpitations, Retinal hemorrhage, Abnormal circulating albumin concentration, Abnormal circulatin... ORPHA:86839
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia OMIM:617397
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Aggressive behavior, Acute hyperammonemia, Hyper... ORPHA:247585
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Lethargy, Bradycardia, Increased circulating thyroglobulin level ORPHA:90673
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Syncope, Increased C-peptide level, Tachycardia, Hypertrophic cardiomyopathy ORPHA:276580
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Poor eye contact, Self-injurious beha... ORPHA:449291
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Coproporphyria, Hereditary
Tachycardia, Anxiety, Hypertension OMIM:121300
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Hypertriglyceridemia, Tachycardia, Prolonged QT interval, Elevated circulati... OMIM:613327
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Increased C-peptide level, Tachycardia, Decreased circulating free fatty ... ORPHA:324575
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Hypoalbuminemia, Increased circulating ferritin concentration, Eleva... OMIM:616050
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Happy demeanor, Broad-based gait, Hyperactivity OMIM:617865
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Dilated ca... OMIM:600649
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Self-injurious behavior, Hyperactivity OMIM:618718
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Lack of pe... ORPHA:1942
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Congestive heart fa... OMIM:310200
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Lethargy, Tachycardia ORPHA:276608
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Mental deterioration, Hypoalbuminemia, Ataxia OMIM:617575
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:617044
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:64280
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Rasmussen Subacute Encephalitis
Inability to walk, Emotional lability, Irritability, Hemidystonia, Hyperactivity, Memory impairme... ORPHA:1929
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimuation test, Aggressive behavior, Hyperactivity OMIM:615286
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Hyperactivity ORPHA:500180
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, In... ORPHA:43
Young-Onset Parkinson Disease
Impaired social interactions, Dystonia, Dementia, Depression, Apathy, Bradykinesia, Panic attack,... ORPHA:2828
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Loss of ability to walk, Toe walking, Bradycardia ORPHA:565624
Glossopharyngeal Neuralgia
Bradycardia, Anxiety, Jaw claudication, Syncope ORPHA:221098
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Hyperactivity ORPHA:530983
Juvenile Neuronal Ceroid Lipofuscinosis
Dementia, Loss of ability to walk, Emotional lability, Motor deterioration, Tachycardia, Anxiety,... ORPHA:79264
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin l... ORPHA:90674
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Progressive psychomotor deterioration, Hypertriglyceridemia, Limb dy... ORPHA:363400
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Inappropriate laughter, Aggressive behavior, Poo... OMIM:103050
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Low pulse pressure, Increased alpha-globu... ORPHA:86816
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Cognitiv... ORPHA:309246
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Encephalitis Lethargica
Mental deterioration, Lethargy, Bradycardia ORPHA:83600
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Intellectual Developmental Disorder, X-Linked 98
Poor eye contact, Ataxia, Hyperactivity OMIM:300912
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Tachycardia ORPHA:90037
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Arrhythmia, Elevated circulating creatine kinase concent... ORPHA:26793
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Impulsivity, Depression, Hyperactivity ORPHA:88616
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Gastrointestinal hemorrhage, Hy... ORPHA:247598
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Pulmonary embolism, Hypertriglyce... ORPHA:567548
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Tachycardia, Abnormal circulating protein concentration ORPHA:264675
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Congenital Enterovirus Infection
Hypotension, Irritability, Hypoalbuminemia, Myocarditis, Hyperammonemia, Cardiomyopathy ORPHA:292
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Osteopenia, Aggressive behavior, Hyperactivity OMIM:616809
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Cockayne Syndrome Type 1
Difficulty walking, Gait disturbance, Increased blood urea nitrogen, Ataxia ORPHA:90321
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Paragangliomas 3
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:605373
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Anxiety, Syncope ORPHA:464453
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Cognitive... OMIM:601853
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Lethargy, Arrhythmia, Hypotension, Ventricular tachycardia, Elevated ... ORPHA:159
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Lethargy, Arrhythmia, Abnormality of iron homeostas... ORPHA:465508
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage ORPHA:2494
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Progressive gait ataxia, Abnormal social behavior, Toe walking, Emotional ... ORPHA:309256
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Hematochezia ORPHA:2070
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Dystonia, Gait ataxia, Gait disturbance, Ataxia, Ventricular tachycardia, Ven... OMIM:616878
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Ataxia, Emotional lability, Unsteady gait,... ORPHA:35069
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Sepsis In Premature Infants
Hypotension, Tachycardia, Elevated circulating C-reactive protein concentration, Bradycardia ORPHA:90051
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Palpitations, Tachycardia OMIM:602668
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Proximal Spinal Muscular Atrophy
Inability to walk, Difficulty walking, Bradycardia ORPHA:70
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Hyponatremia, Epistaxis, Myocardial infa... ORPHA:449285
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Increased serum iron, Cardiomyopathy OMIM:604250
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hypoproteinemia, Budd-Chiari syndrome, Hypoalbuminemia OMIM:226300
Hypermanganesemia With Dystonia 1
Dystonia, Increased total iron binding capacity, Bradykinesia, Steppage gait, Unconjugated hyperb... OMIM:613280
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Tachycardia, Hypoalbumi... ORPHA:36234
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Impulsivity, Hyperactivit... ORPHA:8
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Hypouricemia, Autoimmune hemolytic anemia, Decreased proportion of C... ORPHA:760
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Abetalipoproteinemia
Gait ataxia, Hypotriglyceridemia, Hyperbilirubinemia, Ataxia, Hypocholesterolemia, Decreased LDL ... ORPHA:14
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Abnormal social behavior, Emotional lability, Progressive psyc... ORPHA:309263
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hematochezia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Depression, Progressive gait ataxia, Difficulty walking, Abnormal social beha... ORPHA:309271
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Aggressive behavior, Emotional lability, Low frustration tolerance,... OMIM:309520
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormality of the spinal cord ORPHA:494
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy ORPHA:848
Paragangliomas 1
Episodic paroxysmal anxiety, Palpitations, Tachycardia, Hypertension associated with pheochromocy... OMIM:168000
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Cri-Du-Chat Syndrome
Self-mutilation, Overfriendliness, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivit... OMIM:123450
Mercury Poisoning
Dystonia, Hypotension, Hypertension, Hypokalemia, Tachycardia ORPHA:330021
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Dysmetria, Hyperacti... OMIM:610217
Cholera
Hypocalcemia, Lethargy, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypokalemia,... ORPHA:173
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia, Hyperammonemia ORPHA:1667
Sheehan Syndrome
Palpitations, Hyponatremia, Bradycardia, Orthostatic hypotension ORPHA:91355
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Oculogyric crisis, Torticollis, Irritab... OMIM:608643
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, Tachycardia,... ORPHA:368
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Congestive heart failure, Hypoalbuminemia ORPHA:367
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Lethargy, Hypophosphatemic rickets, Abnormal circulating fa... ORPHA:263455
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Dystonia, Increased total iron binding capacity, Truncal ataxia, Hyperglycine... ORPHA:309854
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Dementia, Exaggerated startle response OMIM:272750
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Arrhythmia, Congestive heart failure, Increased ser... OMIM:235200
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Congestive heart failure, Hypoalbuminemia, Hypertrophic cardiomyopathy OMIM:617303
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Aggressive behavior, Mood swings OMIM:300354
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Sudden cardiac death, Tachycardia, Elevated circulating creatine kinase c... OMIM:614921
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Anxiety,... ORPHA:89842
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Hydroxykynureninuria
Hypotension, Tachycardia, Abnormal circulating tryptophan concentration ORPHA:79155
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Lethargy, Bradycardia OMIM:218700
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Tachycardia, Irritability OMIM:229700
Leishmaniasis
Hypoalbuminemia ORPHA:507
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Portal hypertension, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Avian Influenza
Elevated circulating creatine kinase concentration, Congestive heart failure, Hypoalbuminemia, El... ORPHA:454836
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Tricuspid regurgitation, Congestive heart failure, Tachycardia, Hypoalbuminemi... ORPHA:505248
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Macrocytic anemia OMIM:614294
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration ORPHA:79273
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after exercise, Supr... ORPHA:423
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Aortic regurgitation, Hypermethioninemia, Pulmonic stenosis, Hyp... OMIM:222470
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Hematochezia OMIM:174900
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation, Aggressive behavior OMIM:261990
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Hyperactivity ORPHA:3306
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Ataxia, Hypertension, Congestive heart failure, T... ORPHA:31826
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased total iron binding capacity, Hyperbilirubinemia, Increased serum b... OMIM:616278
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Coffin-Siris Syndrome 7
Sagittal craniosynostosis, Hyperactivity OMIM:618027
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Increased cir... ORPHA:466677