Gene Summary

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

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
abnormal gait Gria1em1(IMPC)H HOM Early adult 4.45×10-14
hyperactivity Gria1em1(IMPC)Hmgu HOM Early adult 9.91×10-11
abnormal freezing behavior Gria1em1(IMPC)H HOM   Late adult 1.40×10-08
abnormal locomotor behavior Gria1em1(IMPC)H HOM Early adult 6.41×10-11
increased circulating iron level Gria1em1(IMPC)H HOM Late adult 5.50×10-07
hyperactivity Gria1em1(IMPC)H HOM Early adult 0.00
decreased bone mineral content Gria1em1(IMPC)Hmgu HOM Early adult 8.29×10-06
abnormal gait Gria1em1(IMPC)H HOM Late adult 2.25×10-10
increased circulating serum albumin level Gria1em1(IMPC)H HOM   Late adult 8.70×10-05
decreased startle reflex Gria1em1(IMPC)Hmgu HOM Early adult 4.99×10-05
decreased prepulse inhibition Gria1em1(IMPC)H HOM Early adult 5.49×10-06
increased mechanical nociceptive threshold Gria1em1(IMPC)H HOM   Early adult 7.47×10-05 *
decreased prepulse inhibition Gria1em1(IMPC)Hmgu HOM Early adult 5.67×10-05
decreased freezing behavior Gria1em1(IMPC)H HOM Late adult 1.04×10-08
increased circulating amylase level Gria1em1(IMPC)Hmgu HOM Early adult 6.18×10-05
decreased vertical activity Gria1em1(IMPC)Hmgu HOM Early adult 1.06×10-06
impaired cued conditioning behavior Gria1em1(IMPC)H HOM Late adult 4.88×10-07
decreased exploration in new environment Gria1em1(IMPC)H HOM Late adult 9.48×10-07
hypoalgesia Gria1em1(IMPC)H HOM   Early adult 4.80×10-06 *
impaired contextual conditioning behavior Gria1em1(IMPC)H HOM Late adult 6.61×10-10
increased blood urea nitrogen level Gria1em1(IMPC)H HOM Early adult 1.79×10-07
decreased exploration in new environment Gria1em1(IMPC)H HOM Middle aged adult 3.96×10-05
increased circulating alkaline phosphatase level Gria1em1(IMPC)Hmgu HOM Early adult 7.74×10-05

Download data as:  TSV  XLS

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

Echo

M-Mode Images

99 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.

The table below shows human diseases associated to Gria1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior OMIM:619931

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania OMIM:125480
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Severe Primary Trimethylaminuria
Obsessive-compulsive trait, Emotional lability, Depression, Negative affectivity, Aggressive beha... ORPHA:468726
Familial Alzheimer-Like Prion Disease
Emotional lability, Depression, Deficit in phonologic short-term memory, Cognitive impairment, At... ORPHA:280397
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Basal Ganglia Calcification, Idiopathic, 4
Attention deficit hyperactivity disorder, Depression, Dementia OMIM:615007
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Obsessive-Compulsive Disorder
Depression, Skin-picking, Collectionism, Compulsive behaviors OMIM:164230
Schizophrenia 15
Hyperactivity OMIM:613950
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Aggressive behavior, Excessive shyness OMIM:618221
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... OMIM:620085
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Impulsivity, Aggressive behavior OMIM:300615
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:610582
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:606176
Childhood Disintegrative Disorder
Abnormal emotion, Motor deterioration, Progressive language deterioration, Reduced social recipro... ORPHA:168782
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c OMIM:609812
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... OMIM:172700
Maturity-Onset Diabetes Of The Young, Type 13
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:616329
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Inability to walk OMIM:616657
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c OMIM:619278
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Ataxia, Attention deficit hyperactivity disorder, Dysmetria, Ment... OMIM:619191
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Frontotemporal Dementia
Irritability, Frontotemporal dementia, Polyphagia, Frontal lobe dementia, Inappropriate laughter,... OMIM:600274
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Delayed early-childhood social milestone development, Hyperactivity, Gait dist... OMIM:618090
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:617820
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Cognitive impair... OMIM:208920
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Elevated hemoglobin A1c, Gait ataxia OMIM:616192
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity OMIM:617113
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Confusion, Semantic dementia, Disinhibiti... ORPHA:1020
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior OMIM:239500
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia OMIM:617872
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612924
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Elevated hemoglobin A1c OMIM:616113
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612926
Autism, Susceptibility To, 3
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608049
Lennox-Gastaut Syndrome
Irritability, Falls, Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Self-mutilation, Hyperuricemia OMIM:308950
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Short attention span, Inappropriate laughter, Ataxia ORPHA:411515
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminem... OMIM:616267
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Memory impairment, Depression, Emotional lability, Hyperactiv... ORPHA:98818
Hsd10 Disease
Abnormal social behavior, Short attention span, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, Di... ORPHA:100924
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... OMIM:619827
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Unsteady gait, Aggressive behavior OMIM:301107
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Ataxia, Aggressive behavior OMIM:620270
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612925
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Tremor, Dystonia, Ataxia OMIM:615924
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Broad-based gait, Depression, Hyperactivity, Gait at... ORPHA:248111
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Progressive language deterioration, Ataxia, Reduced social reciprocity, Motor ster... OMIM:610042
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Ataxia, Reduced social reciprocity ORPHA:137831
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia,... OMIM:613845
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Short attention span, Abnormal so... ORPHA:444002
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Dysphagia, Elevated c... ORPHA:64753
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Unsteady gait, Self-mu... OMIM:615516
Foxg1 Syndrome
Difficulty walking, Inability to walk, Stereotypical hand wringing, Cognitive impairment, Reduced... ORPHA:561854
Dend Syndrome
Elevated hemoglobin A1c ORPHA:79134
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Ataxia, Reduced social reciprocity, Dysphagia, Aggressive behavior OMIM:619738
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Depression, Compulsive behaviors, Self-injurious behavior, Aggressive behavior OMIM:619467
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Aceruloplasminemia
Aceruloplasminemia, Ataxia, Decreased circulating iron concentration, Dementia, Increased circula... OMIM:604290
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Waddling gait, Impulsivity, Gait ataxia, Self-mutilation, Paroxysmal bursts of lau... OMIM:620445
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Increased LDL choles... OMIM:267700
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Depression, Hyperactivity, Recurrent hand flapping, Short... ORPHA:449291
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... OMIM:274150
Mody
Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration ORPHA:552
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Diarrhea 13
Hypoalbuminemia OMIM:620357
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Young-Onset Parkinson Disease
Agitation, Gait imbalance, Depression, Short attention span, Impulsivity, Frontal lobe dementia, ... ORPHA:2828
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Atypical Rett Syndrome
Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Stereotypical hand wringing... ORPHA:3095
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Depression, Dysdiadochokinesis, Compulsive behaviors, Gait apraxia, Cognitive impair... OMIM:615157
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Abnormal social behavior, Punding, Depression ORPHA:64280
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Graves Disease
Irritability, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperac... OMIM:275000
Intellectual Developmental Disorder, Autosomal Dominant 56
Inability to walk, Broad-based gait, Short attention span, Impulsivity, Ataxia, Reduced social re... OMIM:617854
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Unsteady gait, Dysphagia, Hypoalbuminemia, Mental deterioration OMIM:254900
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Stereotypical hand wringing, Gait disturbance, Inappropriate laughter, Ataxia, Mot... OMIM:614104
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia, Self-injurious... OMIM:271980
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hyperuric... OMIM:203800
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Short attention span, Dysphoria, Motor stereotypy, Attention deficit h... OMIM:620242
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... ORPHA:228402
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait OMIM:618805
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Polyphagia, Episodic hemolytic anemia ORPHA:251004
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c OMIM:616539
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Increased circulating gonadotropin level, Reduced socia... ORPHA:163976
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia, Mental deterioration OMIM:617575
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Myoclonic-Astatic Epilepsy
Abnormal emotion, Hyperactivity, Ataxia, Reduced social reciprocity, Unsteady gait, Attention def... ORPHA:1942
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ata... OMIM:603553
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Aggressive behavior OMIM:616083
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Bloom Syndrome
Elevated hemoglobin A1c, Leukemia OMIM:210900
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dysphagia, Aggressive behavior ORPHA:500180
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Immunodeficiency 27A
Anorexia, Hypoalbuminemia OMIM:209950
Liver Failure, Infantile, Transient
Hypoalbuminemia, Irritability, Hyperbilirubinemia OMIM:613070
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Recurrent hand flapping, Short... ORPHA:98794
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Aceruloplasminemia
Limb ataxia, Akinesia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... ORPHA:48818
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, Polyphagia, Splenomegaly OMIM:269700
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Cognitive impairment, Disinhibition, Dementia, Attention deficit... ORPHA:43
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Irritability, Motor stereotypy, Aggressive behavior ORPHA:391307
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Hyperlysinemia, Type I
Hyperactivity, Dysdiadochokinesis, Short attention span, Cognitive impairment OMIM:238700
Infantile Neuroaxonal Dystrophy
Emotional lability, Hyperactivity, Short attention span, Impulsivity, Gait disturbance, Choking e... ORPHA:35069
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Leishmaniasis
Anorexia, Hypoalbuminemia ORPHA:507
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Inability to walk, Hyperactivity, Low frustration tolerance, Mental d... ORPHA:168491
Eosinophilic Gastroenteritis
Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration ORPHA:2070
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Transient hyperphenylalaninemia, Hyperactivity, Tremor, Hyperphenylalaninemia,... OMIM:612716
Cockayne Syndrome Type 1
Difficulty walking, Anemia, Gait disturbance, Increased blood urea nitrogen, Ataxia ORPHA:90321
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, Low frustration tolerance, Stereotypical hand wringing, ... ORPHA:163681
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Ménétrier Disease
Anorexia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anemia ORPHA:230
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
47,Xyy Syndrome
Increased serum testosterone level, Hyperactivity, Impulsivity, Reduced social reciprocity, Atten... ORPHA:8
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Gait ataxia, Inappropriate laughter, Self-mutilation, Aggressiv... OMIM:103050
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Cognitive impairment ORPHA:64743
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Depression, Decreased circulating iron concentrati... ORPHA:89842
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Reduc... OMIM:612469
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:848
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Progressive psychomotor deterioration, Abnormal social behavior, Memory impai... ORPHA:309271
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia ORPHA:309256
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Congenital Enterovirus Infection
Hyperammonemia, Irritability, Hypoalbuminemia ORPHA:292
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Normocytic anemia, Elevated circulating C-reactive protein concentration, Increased blo... ORPHA:49041
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Dysdiadochokinesis, Short attention span, Impulsivity, Gait at... OMIM:610217
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Self-injurious behavior ORPHA:494
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Abnormal social behavior, Emotional lability, Short attent... ORPHA:309263
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia, Abnormal circulating creatine concentration, Self-mut... ORPHA:52503
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Memory impairment, Hyperactivity, Confusion, Short attenti... ORPHA:139396
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short attention span, Elevated circulating growth hormone concentration, Decreased... OMIM:608747
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia, Progressive neurologic deterioration OMIM:618329
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Hyperactivity, Compulsive behaviors, Reduced socia... OMIM:309520
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steppage gait, Hypotriglyceridemia, Broad-based gait, Hy... ORPHA:14
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Abnormal spinal cord morphology ORPHA:99947
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Ele... ORPHA:36234
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Memory impairment, Nonprogressive cerebellar ataxia, Ataxia, Unsteady g... ORPHA:314647
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Irritability, Self-mutilation OMIM:619487
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Cognitive impairment, Increased circulating i... OMIM:222470
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Hypernatremia, Dystonia, Hyp... OMIM:620423
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior, Hypokalemia OMIM:219090
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Irritability, Abnormal social behavior, Abnormal aggres... ORPHA:96263
Tay-Sachs Disease
Inability to walk, Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Gai... ORPHA:845
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Ataxia, Hyperactivity OMIM:620047
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased circulating iron concentration OMIM:206100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Spinal Cord Injury
Syringomyelia, Allodynia, Spinal cord lesion ORPHA:90058
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Inability to walk OMIM:617303
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugated hyperbiliru... OMIM:613280
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Emotional lability, Self-mutilation OMIM:256800
Wilson Disease
Decreased circulating ceruloplasmin concentration, Dementia, Hypouricemia, Hyperbilirubinemia, Dy... OMIM:277900
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Akinesia, Depression, Hyperactivity, Gait disturbance, Phonic tics, M... OMIM:234200
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Ataxia, Dysmetria OMIM:212065
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Allodynia ORPHA:51890
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration, Dysphagia ORPHA:85443
Argininemia
Hyperactivity, Irritability, Anorexia, Spastic gait OMIM:207800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior, Broad-b... ORPHA:93932
Niemann-Pick Disease Type C
Abnormal social behavior, Depression, Low frustration tolerance, Compulsive behaviors, Gait distu... ORPHA:646
Marburg Hemorrhagic Fever
Anorexia, Hypokalemia, Confusion, Hyperamylasemia, Elevated circulating creatine kinase concentra... ORPHA:99826
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia OMIM:235510
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Difficulty walking, Truncal ataxia, Dysdiadochokinesis, Ab... ORPHA:309854
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hyperprol... OMIM:620451
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Leukodystrophy, Hypomyelinating, 13
Ataxia, Exaggerated startle response OMIM:616881
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Choreoacanthocytosis
Self-injurious behavior, Irritability, Socially inappropriate behavior, Hair-pulling, Falls, Emot... ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Ataxia OMIM:251300
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Skin-pick... ORPHA:177907
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Inability to walk, Abnormal aggressive, impulsive or viol... ORPHA:1675
Trigeminal Neuralgia
Allodynia ORPHA:221091
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Inability to walk ORPHA:505248
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy ORPHA:447997
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Tuberous Sclerosis Complex
Abnormal social behavior, Depression, Hyperactivity, Impulsivity, Repetitive compulsive behavior,... ORPHA:805
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Kawasaki Disease
Hypoalbuminemia, Irritability, Elevated circulating C-reactive protein concentration ORPHA:2331
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating thymidine concentration, Allodynia, Dysphagia, Elevated circulating deoxyuri... OMIM:603041
Primary Sclerosing Cholangitis
Depression, Hypoalbuminemia ORPHA:171
Pudendal Neuralgia
Allodynia ORPHA:60039
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypoalbuminemia, Abnormal circulating fatty-acid concen... ORPHA:2298
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Irritability, Myelitis, Aggressive behavior ORPHA:83597
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:231226
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353281
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sandhoff Disease
Ataxia, Exaggerated startle response OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Smith-Lemli-Opitz Syndrome
Hyperactivity, Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypochol... OMIM:270400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Goodpasture Syndrome
Increased blood urea nitrogen, Anemia OMIM:233450
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Beta-Thalassemia Major
Irritability, Abnormality of iron homeostasis ORPHA:231214
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response ORPHA:521426
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Abnormality of iron homeostasis ORPHA:231222
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response OMIM:617527
Benign Schwannoma
Allodynia ORPHA:252164
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353277
Adrenomyeloneuropathy
Dorsal column degeneration, Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:139399
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Inability to walk, Broad-based gait, Osteoporosis, Stereotypical hand wringing, Exagg... ORPHA:438213
Koolen-De Vries Syndrome Due To A Point Mutation
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Inappropriate laughter, Abnormal social behavior, Overf... ORPHA:363958
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Irritability, Restlessness ORPHA:68
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response OMIM:618367
Superficial Siderosis
Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:247245
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Williams Syndrome
Gait imbalance, Abnormal social behavior, Depression, Compulsive behaviors, Gait disturbance, Ata... ORPHA:904
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphagia, Motor stereotypy OMIM:619522
Primary Sjögren Syndrome
Depression, Abnormal spinal cord morphology ORPHA:289390
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Tetrasomy 9P
Hyperactivity, Abnormal spinal cord morphology, Inappropriate behavior ORPHA:3310
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida ORPHA:2369
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin, Ataxia ORPHA:79318
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior OMIM:619931

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.

Order Mouse and ES Cells

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter