Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating iron level Gria1em1(IMPC)H HOM Late adult 1.25×10-07
hyperactivity Gria1em1(IMPC)H HOM Early adult 0.00
abnormal locomotor behavior Gria1em1(IMPC)H HOM Early adult 7.57×10-11
decreased exploration in new environment Gria1em1(IMPC)H HOM Late adult 7.85×10-07
increased circulating amylase level Gria1em1(IMPC)Hmgu HOM Early adult 6.18×10-05
decreased exploration in new environment Gria1em1(IMPC)H HOM Middle aged adult 4.19×10-05
increased circulating alkaline phosphatase level Gria1em1(IMPC)Hmgu HOM Early adult 7.74×10-05
increased circulating serum albumin level Gria1em1(IMPC)H HOM   Late adult 5.83×10-05
decreased startle reflex Gria1em1(IMPC)Hmgu HOM Early adult 4.99×10-05
increased blood urea nitrogen level Gria1em1(IMPC)H HOM Early adult 1.47×10-07
hypoalgesia Gria1em1(IMPC)H HOM   Early adult 4.80×10-06 *
decreased vertical activity Gria1em1(IMPC)Hmgu HOM Early adult 8.70×10-07
decreased bone mineral content Gria1em1(IMPC)Hmgu HOM Early adult 1.71×10-05
decreased prepulse inhibition Gria1em1(IMPC)Hmgu HOM Early adult 4.13×10-05
decreased exploration in new environment Gria1em1(IMPC)Hmgu HOM Early adult 3.12×10-05
hyperactivity Gria1em1(IMPC)Hmgu HOM Early adult 1.31×10-11
abnormal gait Gria1em1(IMPC)H HOM Early adult 6.11×10-14
abnormal gait Gria1em1(IMPC)H HOM Late adult 3.61×10-10
decreased prepulse inhibition Gria1em1(IMPC)H HOM Early adult 5.41×10-06
increased mechanical nociceptive threshold Gria1em1(IMPC)H HOM   Early adult 7.47×10-05 *

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* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
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Select physiological systems to view:
Viewing: all phenotypes
* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.

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
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Emotional lability, Atten... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Immunodeficiency 8
Hyperactivity OMIM:615401
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Azotemia, Familial
Azotemia OMIM:109160
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability OMIM:616657
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:606176
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia OMIM:607250
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Aggressive behavior, Attention deficit hyperactivity disorder OMIM:619639
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c OMIM:619278
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Mental deterioration, Ataxia, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Poor eye contact OMIM:300983
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia ORPHA:94124
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Mental deterioration, Ataxia, Hypertriglyceridemia, Tremor OMIM:615924
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Hypercholesterolemia, Dementia, Mental deterioration, Ataxia, Gait ataxia, ... OMIM:208920
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Memory impairment, Shuffling gait, Inertia, Anxiety, Dementia, Inap... ORPHA:412066
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Anxiety, Dementia, Motor deteri... ORPHA:168782
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Lack of peer relationships, No social interaction, Unhap... ORPHA:96369
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Dysmetria, Inability to walk, Gait disturbance OMIM:618090
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Progressive language deterioration, Hyperactivity, Ataxia, Aggressi... OMIM:610042
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Attention deficit hyp... OMIM:261600
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Hyperactivity, Ataxia, Aggressive behavior, Tremor OMIM:612716
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:619470
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Lennox-Gastaut Syndrome
Falls, Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Saccharopinuria
Cognitive impairment, Hyperlysinemia, Abnormality of circulating enzyme level, Elevated plasma ci... ORPHA:3124
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:609425
Landau-Kleffner Syndrome
Memory impairment, Anxiety, Hyperactivity, Aggressive behavior, Steppage gait, Emotional lability... ORPHA:98818
Juvenile Huntington Disease
Dementia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Irritability, Broad-... ORPHA:248111
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Poor eye contact, Abnormal social behavior ORPHA:444002
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Dopa-Responsive Dystonia
Abnormal social behavior, Anxiety, Inability to walk, Panic attack, Emotional lability, Fatigable... ORPHA:255
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration OMIM:246700
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Dementia, Aceruloplasminemia,... OMIM:604290
Dend Syndrome
Elevated hemoglobin A1c ORPHA:79134
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:301013
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... OMIM:274150
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait OMIM:618805
Mody
Elevated hemoglobin A1c, Abnormal C-peptide level ORPHA:552
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Hypercholesterolemia, Ataxia, Elevated circulating creatine kinase co... ORPHA:64753
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Self-mutilation, Aggressive behavior OMIM:615516
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Irritability... OMIM:267700
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Broad-based gait ORPHA:411515
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Cln5 Disease
Dysmetria, Anxiety, Hyperactivity, Inability to walk, Mental deterioration, Ataxia, Aggressive be... ORPHA:228360
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Memory impairment, Abnormal social behavior, Dementia, Ataxia ORPHA:1020
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior ORPHA:391417
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Mental deterioration, Ataxia, Hypertriglyceridemia OMIM:617575
Fragile X Syndrome
Self-biting, Hyperactivity, Poor eye contact OMIM:300624
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
Alg6-Cdg
Ataxia, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Athetosis, Ataxia, Aggressive behavior ORPHA:382
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Myoclonic-Astatic Epilepsy
Impaired social interactions, Lack of peer relationships, Hyperactivity, Ataxia, Unsteady gait, A... ORPHA:1942
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavio... ORPHA:449291
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Unsteady gait, Progressive ... ORPHA:485350
X-Linked Adrenoleukodystrophy
Cognitive impairment, Disinhibition, Dementia, Hyperactivity, Aggressive behavior, Inappropriate ... ORPHA:43
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c OMIM:616539
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia, Hyperuricosuria ORPHA:94088
Cntnap2-Related Developmental And Epileptic Encephalopathy
Low frustration tolerance, Progressive language deterioration, Hyperactivity, Mental deterioratio... ORPHA:163681
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal social behavior ORPHA:530983
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Low self esteem, Depression, Attention deficit hyperactivity d... ORPHA:64280
Severe Neurodegenerative Syndrome With Lipodystrophy
Cognitive impairment, Hyperactivity, Ataxia, Limb dystonia, Gait ataxia, Progressive psychomotor ... ORPHA:363400
Aceruloplasminemia
Increased circulating ferritin concentration, Cognitive impairment, Memory impairment, Decreased ... ORPHA:48818
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Elevated transferrin saturation OMIM:613313
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Rasmussen Subacute Encephalitis
Cognitive impairment, Memory impairment, Hyperactivity, Inability to walk, Emotional lability, Ir... ORPHA:1929
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Adenylosuccinase Deficiency
Happy demeanor, Hyperactivity, Inability to walk, Aggressive behavior, Poor eye contact, Inapprop... OMIM:103050
Stiff Person Spectrum Disorder
Anxiety, Emotional lability, Difficulty walking, Exaggerated startle response, Falls, Agoraphobia ORPHA:3198
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Inability to walk, Aggressive behavior, Gait ataxia, Impulsivity ORPHA:500180
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia ORPHA:251004
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Irritability... OMIM:603553
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Hyperactivity, Osteopenia, Aggressive behavior OMIM:616809
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Optic Atrophy 11
Hyperactivity, Dysmetria, Ataxia OMIM:617302
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior OMIM:300958
Late Infantile Neuronal Ceroid Lipofuscinosis
Low frustration tolerance, Anxiety, Dementia, Motor deterioration, Mental deterioration, Inabilit... ORPHA:168491
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Gait disturbance OMIM:614104
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Ataxia, Anemia, Gait disturbance, Difficulty walking ORPHA:90321
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Hyperactivity, Ataxia, Bipolar affective disorder,... OMIM:601853
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Increased serum iron, Elevated transferrin saturation OMIM:604250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Unconjugated hyperbilirubinemia, Increased serum ir... ORPHA:766
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Hyperactivity, Mental deterioration, Ataxia, Unsteady gait, Emotional ... ORPHA:35069
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Athetosis, Ataxia, Self-mut... ORPHA:52503
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Cri-Du-Chat Syndrome
Anxiety, Hyperactivity, Conspicuously happy disposition, Aggressive behavior, Self-mutilation, Ov... OMIM:123450
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hypoalbuminemia, Difficulty walking, Hyperammonemia ORPHA:1667
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Dystonia, Hyperactivity, Ataxia, Hypervalinemia, Elevated circulating creatine ki... OMIM:615673
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Paroxysmal bursts of laughter ORPHA:228402
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron OMIM:212050
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormality of the spinal cord ORPHA:494
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Hepatoportal Sclerosis
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, A... ORPHA:447
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia, Tip-toe gait ORPHA:309256
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Hyperactivity, Aggressive behavior, Mood swings OMIM:300354
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
47,Xyy Syndrome
Impaired social interactions, Increased serum testosterone level, Hyperactivity, Increased circul... ORPHA:8
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity OMIM:613192
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Leishmaniasis
Hypoalbuminemia ORPHA:507
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Dystonia, Anxiety, Exaggerated startle response, Abnormal fear/anxiety-rela... ORPHA:309246
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Steppa... OMIM:613280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Low frustration tolerance, Hyperactivity, Aggressive behavior, Emot... OMIM:309520
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Abnormal social behavior, Dementia, Emotional lability, Progressive psychomoto... ORPHA:309271
Abetalipoproteinemia
Dysmetria, Decreased LDL cholesterol concentration, Hypotriglyceridemia, Ataxia, Steppage gait, G... ORPHA:14
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Lethargy, Emotional lability, Irritab... OMIM:608643
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia, Irritability ORPHA:292
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:49041
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Tay-Sachs Disease
Apathy, Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Hyperactivity, Aggressive behavior ORPHA:3306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Ataxia, Aggressive behavior ORPHA:369891
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:848
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Mental deterioration, Emotion... OMIM:610217
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Anxiety, Decreased plasma carnitine, Hypoalbuminemia,... ORPHA:89842
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive psychomotor deterioration, Progressive gait ataxia, Abnormal soci... ORPHA:309263
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Hyperactivity, Ataxia, Aggressive behavior OMIM:618430
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Potocki-Lupski Syndrome
Hyperactivity, Poor eye contact OMIM:610883
16P12.1P12.3 Triplication Syndrome
Nail-biting, Anxiety, Hyperactivity, Decreased response to growth hormone stimulation test, Skin-... ORPHA:485405
48,Xxxy Syndrome
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Anxiety, Irritabili... ORPHA:96263
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Combined Oxidative Phosphorylation Deficiency 37
Progressive neurologic deterioration, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Anxiety, Inability to walk, Hyperactivity, Ataxia, Aggre... ORPHA:72
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Hyperactivity, Ataxia, Inappropriate laughter, Gait imbalance, Broad-based gait ORPHA:98794
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Intellectual Developmental Disorder, X-Linked 98
Impaired social interactions, Self-biting, Anxiety, Hyperactivity, Ataxia, Aggressive behavior, P... OMIM:300912
Trichohepatoenteric Syndrome 1
Cognitive impairment, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Incre... OMIM:222470
Aicardi-Goutieres Syndrome 9
Irritability, Self-mutilation, Hypoalbuminemia OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Low frustration tolerance, Self-mutilation OMIM:300486
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Ataxia, Hypoalbuminemia OMIM:212065
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormality of the spinal cord ORPHA:139578
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Memory impairment, Decreased circulating cortisol level, Inability to walk, Mental det... ORPHA:139396
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Glass Syndrome
Happy demeanor, Broad-based gait, Aggressive behavior, Hyperactivity OMIM:612313
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Dysmetria, Memory impairment, Abnormal social behavior, Ataxia, Aggressive behavior, Unsteady gai... ORPHA:314647
Tay-Sachs Disease
Dysmetria, Dystonia, Memory impairment, Increased serum beta-hexosaminidase, Anxiety, Inability t... ORPHA:845
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Low frustration tolerance, Self-mutilation, Inappropriate laughter ORPHA:363686
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Decreased circulating ferritin concentration, Abnormal blood inorganic cation... ORPHA:309854
Gm2-Gangliosidosis, Ab Variant
Apathy, Dementia, Dystonia, Exaggerated startle response OMIM:272750
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
White-Sutton Syndrome
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, Irritability, Overfriendlin... OMIM:616364
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia, Hypouricemia ORPHA:760
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:300298
Pediatric-Onset Graves Disease
Increased circulating free T3, Mood swings, Hyperactivity, Increased circulating T4 level, Irrita... ORPHA:525731
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Symptomatic Form Of Hemochromatosis Type 1
Apathy, Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormalit... ORPHA:465508
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormality of the spinal cord ORPHA:99947
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Emotional lability, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Anxiety, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Stiff-Person Syndrome
Agoraphobia, Opisthotonus, Anxiety, Exaggerated startle response OMIM:184850
Niemann-Pick Disease Type C
Low frustration tolerance, Cognitive impairment, Disinhibition, Abnormal social behavior, Dementi... ORPHA:646
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Rauch-Steindl Syndrome
Anxiety, Hyperactivity, Aggressive behavior OMIM:619695
Argininemia
Spastic gait, Hyperactivity, Irritability, Hyperargininemia, Hyperammonemia OMIM:207800
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Galloway-Mowat Syndrome 1
Ataxia, Hypoalbuminemia OMIM:251300
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Choreoacanthocytosis
Aggressive behavior, Apathy, Hair-pulling, Hyperactivity, Laryngeal dystonia, Head titubation, Li... ORPHA:2388
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormality of the spinal cord ORPHA:53721
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Hyperlysinemia
Dysmetria, Opisthotonus, Craniosynostosis, Hyperlysinemia, Hyperactivity, Tip-toe gait, Hypoornit... ORPHA:2203
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Abnormal social behavior, Anxiety, Decreased respon... ORPHA:177907
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Broad-based gait, Abnormal social behavior ORPHA:93932
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Hypoalbuminemia, Reduced circulating transferrin concentration, Decreased pr... ORPHA:90363
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Hypoalbuminemia, Abnormal circulat... ORPHA:2298
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Tuberous Sclerosis Complex
Abnormal social behavior, Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior, D... ORPHA:805
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal aggressive, impulsive or violent behavior, Irritability, Inability to walk, Abnormal soc... ORPHA:1675
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Aggressive behavior,... ORPHA:99826
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Dementia, Bradykinesia, Mental deterioration, Ataxia, Akinesia, Hyperact... OMIM:234200
Solitary Bone Cyst
Abnormality of the spinal cord ORPHA:83468
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Mucopolysaccharidosis Type 3
Disinhibition, Dementia, Hyperactivity, Ataxia, Aggressive behavior, Fatigable weakness of swallo... ORPHA:581
Wiedemann-Steiner Syndrome
Low frustration tolerance, Psychomotor deterioration, Anxiety, Hyperactivity, Aggressive behavior... ORPHA:319182
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal social behavior ORPHA:401973
Trigeminal Neuralgia
Allodynia ORPHA:221091
Acute Disseminated Encephalomyelitis
Irritability, Myelitis, Abnormality of the spinal cord, Aggressive behavior ORPHA:83597
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Goodpasture Syndrome
Increased blood urea nitrogen, Anemia OMIM:233450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Legius Syndrome
Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder ORPHA:137605
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Abnormality of iron homeostasis ORPHA:231222
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:231226
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Self-injurious behavior, Hyperactivity, Panic attack, Aggressive be... ORPHA:353281
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Gait ataxia, Broad-based ga... OMIM:614756
Beta-Thalassemia Major
Irritability, Abnormality of iron homeostasis ORPHA:231214
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Anxiety, Inappropriate laughter, Overfriendliness, Decreased response t... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Inappropriate laughter, Overfriendliness, Decreased response t... ORPHA:363958
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormality of the spinal cord ORPHA:88628
Benign Schwannoma
Allodynia ORPHA:252164
Adrenomyeloneuropathy
Atrophy of the spinal cord, Dorsal column degeneration, Abnormality of the spinal cord ORPHA:139399
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Self-mutilation, Abnormal emotion/affect behavior, Impulsivity, Diffi... ORPHA:642
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Osteopenia, Decreased serum iron, Inability to walk, Osteoporosis, Exaggerated startle ... ORPHA:438213
Amoebiasis Due To Free-Living Amoebae
Irritability, Abnormality of the spinal cord ORPHA:68
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Williams Syndrome
Dysmetria, Abnormal social behavior, Anxiety, Ataxia, Overfriendliness, Gait disturbance, Depress... ORPHA:904
Superficial Siderosis
Atrophy of the spinal cord, Abnormality of the spinal cord ORPHA:247245
Primary Sjögren Syndrome
Anxiety, Depression, Abnormality of the spinal cord ORPHA:289390
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
Limb Body Wall Complex
Spina bifida occulta, Spina bifida, Myelomeningocele, Abnormality of the spinal cord ORPHA:2369
Pmm2-Cdg
Reduced thyroxin-binding globulin, Ataxia, Hypoalbuminemia ORPHA:79318
Mosaic Trisomy 20
Abnormality of the spinal cord ORPHA:1724
Tetrasomy 9P
Inappropriate behavior, Abnormality of the spinal cord ORPHA:3310

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.

There is no histopathology data for Gria1

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 Gria1.

No publications found that use IMPC mice or data for Gria1.

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MGI Allele Allele Type Produced
Gria1em1(IMPC)H Exon Deletion Mice
Gria1em1(IMPC)Hmgu Intra-exon deletion Mice

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