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Gene: Gria1 MGI:95808

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral content Gria1em1(IMPC)Hmgu HOM Early adult 1.71×10-05
increased mechanical nociceptive threshold Gria1em1(IMPC)H HOM   Early adult 7.47×10-05 *
abnormal gait Gria1em1(IMPC)H HOM Early adult 4.45×10-14
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
abnormal locomotor behavior Gria1em1(IMPC)H HOM Early adult 6.41×10-11
impaired cued conditioning behavior Gria1em1(IMPC)H HOM Late adult 4.88×10-07
increased circulating iron level Gria1em1(IMPC)H HOM Late adult 5.50×10-07
hyperactivity Gria1em1(IMPC)H HOM Early adult 0.00
increased circulating serum albumin level Gria1em1(IMPC)H HOM   Late adult 8.70×10-05
hyperactivity Gria1em1(IMPC)Hmgu HOM Early adult 1.29×10-11
increased circulating alkaline phosphatase level Gria1em1(IMPC)Hmgu HOM Early adult 7.74×10-05
abnormal gait Gria1em1(IMPC)H HOM Late adult 2.25×10-10
decreased exploration in new environment Gria1em1(IMPC)H HOM Late adult 9.48×10-07
decreased prepulse inhibition Gria1em1(IMPC)Hmgu HOM   Early adult 6.83×10-05
decreased freezing behavior Gria1em1(IMPC)H HOM Late adult 1.04×10-08
decreased exploration in new environment Gria1em1(IMPC)H HOM Middle aged adult 3.96×10-05
increased circulating amylase level Gria1em1(IMPC)Hmgu HOM Early adult 6.18×10-05
decreased vertical activity Gria1em1(IMPC)Hmgu HOM Early adult 9.79×10-07
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
abnormal freezing behavior Gria1em1(IMPC)H HOM   Late adult 1.40×10-08
increased blood urea nitrogen level Gria1em1(IMPC)H HOM Early adult 1.79×10-07

Download data as:  TSV  XLS

* Significant with a threshold of 1x10-3, check the Pain Sensitivity page for more information.
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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.

Echo

M-Mode Images

99 Images

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X-ray

XRay Images Whole Body Dorso Ventral

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

23 Images

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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
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder,... OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior, Absent speech OMIM:619931

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Delayed speech and language development, Hyperactivity DECIPHER:20
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Intellectual Developmental Disorder, Autosomal Recessive 3
Delayed speech and language development, Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Delayed speech and language development, Attention deficit hyperactivity disorder OMIM:617787
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Aggressive behavior, Attention deficit hyperactivity disorder, Absent speech, Inability to walk OMIM:620038
Panic Disorder 1
Anxiety OMIM:167870
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Delayed speech and language development, Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Aggressive behavior, Shyness, Delayed speech and language development, Attention def... OMIM:618221
Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Absent speech OMIM:618687
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Chorea, Benign Hereditary
Gait disturbance, Dementia, Anxiety OMIM:118700
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 37
Delayed speech and language development, Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior ORPHA:356996
Gilles De La Tourette Syndrome
Aggressive behavior, Self-mutilation, Echolalia, Attention deficit hyperactivity disorder OMIM:137580
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Delayed speech and language development, Aggressive behavior, Attention deficit hyperactivity dis... OMIM:619639
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Polyphagia, Hyper... OMIM:620085
Hartnup Disorder
Hyperactivity, Delayed speech and language development, Episodic ataxia, Emotional lability, Atte... OMIM:234500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Absent speech, Anxiety OMIM:619031
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Irritability, Absent speech, Inability to walk OMIM:616657
Hyperlysinemia, Type I
Delayed speech and language development, Hyperactivity, Cognitive impairment OMIM:238700
Creutzfeldt-Jakob Disease
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment OMIM:123400
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:610582
Brunner Syndrome
Low frustration tolerance, Impulsivity, Aggressive behavior, Self-injurious behavior OMIM:300615
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety, Mental deterioration OMIM:619191
Intellectual Developmental Disorder, Autosomal Dominant 69
Delayed speech and language development, Attention deficit hyperactivity disorder, Absent speech OMIM:617863
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Developmental And Epileptic Encephalopathy 104
Delayed speech and language development, Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:606176
Sandhoff Disease, Adult Form
Gait ataxia, Mental deterioration, Anxiety, Elevated circulating creatine kinase concentration ORPHA:309169
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Delayed speech and language development, Absent speech, Impulsivity, Attention def... OMIM:301008
Hyperprolinemia, Type I
Delayed speech and language development, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c OMIM:609812
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Huntington Disease-Like 1
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait OMIM:603218
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment ORPHA:401901
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 109
Hyperactivity, Aggressive behavior, Delayed speech and language development, Agitation, Impulsivity OMIM:309548
Childhood-Onset Benign Chorea With Striatal Involvement
Dementia, Anxiety ORPHA:494541
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat... ORPHA:412066
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Delayed speech and language development, Gait dist... OMIM:618090
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness OMIM:605899
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Delayed speech and language development, Agitation, Impulsivity ORPHA:100973
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Delayed speech and language development, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Cognitive impairment, Truncal ataxia, Limb ataxia, Dementia, Elevated circulating cr... OMIM:208920
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Delayed speech and language development, Attention deficit hyperactivity disorder, Anxiety OMIM:618878
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Dementia, Dysmetria, Depression, Anxiety, Progressive cerebellar ataxia OMIM:604326
Encephalopathy, Progressive, With Or Without Lipodystrophy
Delayed speech and language development, Hyperactivity, Ataxia, Mental deterioration OMIM:615924
Huntington Disease-Like 2
Inertia, Anxiety, Apathy, Dementia, Depression, Subcortical dementia, Irritability, Memory impair... OMIM:606438
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Delayed speech and language development, Absent speech, Ataxia OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Delayed speech and language development, Hyperactivity OMIM:301076
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia OMIM:607250
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Memory im... ORPHA:98818
Dystonia 11, Myoclonic
Agoraphobia, Panic attack, Depression, Anxiety OMIM:159900
X-Linked Intellectual Disability, Stocco Dos Santos Type
Delayed speech and language development, Hyperactivity, Absent speech ORPHA:85288
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Gait ataxia, Elevated hemoglobin A1c OMIM:616192
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Apathy, Depression, Anxiety, Mental deterioration, Memory impairment ORPHA:240085
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Echolalia, Delayed speech and language development, Unsteady ... OMIM:615516
Geniospasm 1
Anxiety OMIM:190100
Morm Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior ORPHA:75858
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia OMIM:617872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612924
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Speech articulation difficulties ORPHA:521258
Ataxia-Oculomotor Apraxia 4
Cognitive impairment, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypercholeste... OMIM:616267
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Anxiety, Delayed speech and language development, Abnormal so... ORPHA:101039
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612926
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia ORPHA:94124
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Anxiety, Motor deteriora... ORPHA:168782
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder,... OMIM:617182
Spinocerebellar Ataxia 48
Gait ataxia, Ataxia, Dysmetria, Depression, Anxiety, Mental deterioration, Irritability OMIM:618093
Early-Onset Schizophrenia
Restlessness, Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Shyn... ORPHA:96369
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Myoclonus-Dystonia Syndrome
Anxiety, Personality disorder, Depression, Panic attack ORPHA:36899
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Dementia, Anxiety OMIM:605909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... OMIM:612925
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:618362
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Mental deterioration ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Impaired social interactions, Absent speech, Ataxia, Attentio... OMIM:610042
Dystonia 12
Emotional lability, Unsteady gait, Depression, Anxiety OMIM:128235
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:271980
Posttransplant Acute Limbic Encephalitis
Cognitive impairment, Ataxia, Depression, Anxiety, Hyponatremia, Memory impairment ORPHA:163921
Intellectual Developmental Disorder, Autosomal Dominant 67
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder,... OMIM:619927
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis, ... OMIM:620023
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Happy demeanor, Absent speech, Ataxia, Polyphagia, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 39
Delayed speech and language development, Hyperactivity, Aggressive behavior OMIM:615541
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Familial Renal Glucosuria
Elevated hemoglobin A1c ORPHA:69076
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis ORPHA:382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Inability to walk, Delayed speech and language developmen... OMIM:618718
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Irritabili... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 74
Delayed speech and language development, Hyperactivity OMIM:617169
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Ataxia, Difficulty walking, Depression, Anxiety OMIM:619425
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... OMIM:615517
Chromosome Xq25 Duplication Syndrome
Delayed speech and language development, Hyperactivity, Anxiety OMIM:300979
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Absent speech, Impulsivity, D... ORPHA:500180
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety OMIM:609425
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Ataxia, Dementia, Progressive cerebellar ataxia, Irritability, Broad-... ORPHA:248111
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... OMIM:613845
Posterior Cortical Atrophy
Memory impairment, Inertia, Ataxia, Anxiety ORPHA:54247
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... ORPHA:66624
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... ORPHA:231111
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:619467
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Absent speech OMIM:300434
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Delayed speech and language development, Impulsivity, Self-mu... OMIM:604317
Choreoacanthocytosis
Progressive choreoathetosis, Aggressive behavior, Dementia, Elevated circulating creatine kinase ... OMIM:200150
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Choreoathetosis, Ataxia, Transient hyperphenylalaninemia, Tremor, Dystonia OMIM:612716
Cln5 Disease
Hyperactivity, Aggressive behavior, Inability to walk, Dysdiadochokinesis, Truncal ataxia, Mental... ORPHA:228360
Huntington Disease
Hostility, Aggressive behavior, Gait imbalance, Suicidal ideation, Abnormal circulating cholester... ORPHA:399
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... ORPHA:3077
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Dend Syndrome
Elevated hemoglobin A1c ORPHA:79134
Aceruloplasminemia
Aceruloplasminemia, Decreased serum iron, Ataxia, Dementia, Increased circulating ferritin concen... OMIM:604290
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Delayed speech and language development, Hyperactivity, Crouch gait OMIM:620145
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased circulating creatine kinase MM isoform, Hypoalbuminemia OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:235400
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Dihydropyrimidine Dehydrogenase Deficiency
Delayed speech and language development, Hyperactivity OMIM:274270
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Ataxia, Increa... OMIM:267700
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... OMIM:274150
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Aggressive behavior, Delayed speech and language development, Agitation, Anxiety, ... OMIM:300558
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Citrullinemia Type Ii
Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... ORPHA:247585
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El... ORPHA:64753
Mody
Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration ORPHA:552
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Gand Syndrome
Language impairment, Hyperactivity OMIM:615074
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Ck Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Hypoalbuminemia OMIM:618347
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Delayed speech and language development, Impulsivity, Attenti... OMIM:620141
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Ck Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... ORPHA:254704
Chylomicron Retention Disease
Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia OMIM:246700
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Delayed speech and language development, Absent speech, Ataxi... ORPHA:163681
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Perry Syndrome
Inappropriate behavior, Frontotemporal dementia, Suicidal ideation, Akinesia, Apathy, Short stepp... OMIM:168605
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Bipolar affective disorder, Depressi... ORPHA:485350
Nephrotic Syndrome, Type 14
Mental deterioration, Hypertriglyceridemia, Ataxia, Hypoalbuminemia OMIM:617575
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Aceruloplasminemia
Gait ataxia, Cognitive impairment, Aceruloplasminemia, Akinesia, Decreased circulating ceruloplas... ORPHA:48818
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Cognitive impairment, Increased circulating ACTH level, Gait ... ORPHA:43
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Polyphagia, Hypercalcemia ORPHA:251004
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Delayed speech and language development, Happy demeanor, Gait disturbance, Ataxia,... OMIM:614104
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal emotion/affect behavior, Impaired social interactions, Delayed speech and... ORPHA:1942
Clark-Baraitser Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior, Anxiety OMIM:617752
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Hyperinsulinemia, Cognitive impairment, Delayed speech and language d... ORPHA:363400
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia ORPHA:79320
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Inability to walk, Motor deterioration, Delayed speech and la... ORPHA:168491
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Delayed speech and languag... ORPHA:228402
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c OMIM:616539
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Shyness, Impaired social interaction... ORPHA:449291
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Infantile Neuroaxonal Dystrophy
Hyperactivity, Delayed speech and language development, Choking episodes, Gait disturbance, Psych... ORPHA:35069
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Irritability, Ataxia, Increased circulating ferritin concentration, Hy... OMIM:603553
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Anxiety, Ap... ORPHA:100924
Stiff Person Spectrum Disorder
Falls, Emotional lability, Difficulty walking, Anxiety, Agoraphobia ORPHA:3198
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Bloom Syndrome
Elevated hemoglobin A1c, Leukemia OMIM:210900
Rasmussen Subacute Encephalitis
Hyperactivity, Cognitive impairment, Inability to walk, Emotional lability, Attention deficit hyp... ORPHA:1929
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Lamb-Shaffer Syndrome
Delayed speech and language development, Hyperactivity, Abnormal social behavior, Ataxia ORPHA:530983
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Lipodystrophy, Congenital Generalized, Type 2
Splenomegaly, Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c OMIM:269700
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Cognitive impairment, Anxiety ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Dysdiadochokinesis, Delayed speech and language development, Emotiona... OMIM:610217
X-Linked Creatine Transporter Deficiency
Hyperactivity, Delayed speech and language development, Ataxia, Athetosis, Self-mutilation ORPHA:52503
Adenylosuccinase Deficiency
Gait ataxia, Hyperactivity, Aggressive behavior, Inability to walk, Delayed speech and language d... OMIM:103050
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Mental deterioration, Unsteady gait, Hypoalbuminemia OMIM:254900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Delayed speech and language development, Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Hemochromatosis Type 2
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Intellectual Developmental Disorder, Autosomal Dominant 45
Delayed speech and language development, Hyperactivity, Attention deficit hyperactivity disorder,... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 13
Delayed speech and language development, Hyperactivity OMIM:613192
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Pica, Happy demeanor, Absent speech, Ataxia, Unsteady gait, Broad-based gait OMIM:617865
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Echolalia, Self-biting, Severe receptive language delay, Seve... ORPHA:3306
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Aggressive behavior, Delayed speech and language development, Absent speech, Ataxi... OMIM:616977
Fragile X Syndrome
Hyperactivity, Self-biting OMIM:300624
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Aggressive behavior, Delayed speech and language development, Emotional lability, ... OMIM:301069
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Young-Onset Parkinson Disease
Cognitive impairment, Gait imbalance, Frontal lobe dementia, Apathy, Dementia, Depression, Anxiet... ORPHA:2828
Cockayne Syndrome Type 1
Anemia, Gait disturbance, Ataxia, Increased blood urea nitrogen, Difficulty walking ORPHA:90321
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Depression, Anxiety, Abnormal circulating selen... ORPHA:89842
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Delayed speech and language development, Hyperactivity OMIM:619239
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Hyperactivity, Choreoathetosis, Ataxia, Elevated circulating creatine kinase conc... OMIM:615673
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Increased serum bile acid con... OMIM:242150
Hepatoportal Sclerosis
Hyperbilirubinemia, Cognitive impairment, Hypoalbuminemia ORPHA:64743
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, Happy demeanor, Absent speech, Ataxia, Inappropriate laughter, Abn... ORPHA:98794
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... ORPHA:447
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Optic Atrophy 11
Hyperactivity, Gait apraxia, Absent speech, Ataxia, Dysmetria, Attention deficit hyperactivity di... OMIM:617302
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Delayed speech and language development, Ataxia, Anxiety OMIM:618430
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Cognitive impairment, Self-injurious behavior, Bipolar affective disorder, Ataxia,... OMIM:601853
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Self-injurious behavior ORPHA:494
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... OMIM:620075
Congenital Enterovirus Infection
Hyperammonemia, Irritability, Hypoalbuminemia ORPHA:292
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity, Absent speech, Low frustration tolerance, Self-mutilation OMIM:300486
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:848
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hyponatremia, Hypoalbuminemia ORPHA:1667
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior OMIM:600430
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Progressive neurologic deterioration, Hypoalbuminemia OMIM:618329
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Angelman Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Delayed speech an... ORPHA:72
Fragile X-Associated Tremor/Ataxia Syndrome
Gait ataxia, Inertia, Gait disturbance, Dementia, Ataxia, Dysmetria, Depression, Anxiety, Memory ... ORPHA:93256
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Absent speech OMIM:619913
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
13Q12.3 Microdeletion Syndrome
Delayed speech and language development, Hyperactivity, Self-mutilation ORPHA:412035
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Leishmaniasis
Hypoalbuminemia ORPHA:507
Trigeminal Neuralgia
Allodynia, Episodic paroxysmal anxiety, Depression ORPHA:221091
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Congenital-Onset Steinert Myotonic Dystrophy
Delayed speech and language development, Hyperactivity, Bradyphrenia, Dysphagia ORPHA:589821
47,Xyy Syndrome
Hyperactivity, Impaired social interactions, Delayed speech and language development, Impulsivity... ORPHA:8
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Abetalipoproteinemia
Gait ataxia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating ap... ORPHA:14
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Aicardi-Goutieres Syndrome 9
Irritability, Self-mutilation, Hypoalbuminemia OMIM:619487
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Agitation, Truncal titubation, Dysmetria, Tremor OMIM:618056
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Inability to walk, Decreased circulating cortisol level, Gait disturbance, Ataxia,... ORPHA:139396
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Impaired social interactions, Self-biting, Delayed speech and... OMIM:300912
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Cognitive impairment, Abnormality of iron homeostasis, Increased serum iron, ... OMIM:222470
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Impaired social interactions, Emotional lability, Low frustra... OMIM:309520
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hypoalbuminemia ORPHA:88673
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Avian Influenza
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elevated circulating crea... ORPHA:454836
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Wilson Disease
Decreased circulating ceruloplasmin concentration, Increased circulating copper concentration, Hy... OMIM:277900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Self-mutilation, Emotional lability OMIM:256800
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Steppa... OMIM:613280
Symptomatic Form Of Hemochromatosis Type 1
Apathy, Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormalit... ORPHA:465508
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Exaggerated startle response, Inability to walk, Gait distur... ORPHA:845
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology ORPHA:99947
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Dysmetria, Ataxia, Hypoalbuminemia OMIM:212065
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk OMIM:609541
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Neurodegeneration With Brain Iron Accumulation 1
Palilalia, Hyperactivity, Akinesia, Choreoathetosis, Gait disturbance, Dementia, Ataxia, Depressi... OMIM:234200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Hyperthyroidism, Nonautoimmune
Delayed speech and language development, Hyperactivity OMIM:609152
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Hyperglycinemia, Dysdiadochokinesis, Truncal ataxia, Abnor... ORPHA:309854
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk OMIM:620114
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Abnormal blood ion concentration, Hypocalcemia, Hypomagnesemia, Hypoa... ORPHA:37042
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Alg12-Cdg
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia ORPHA:79324
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... OMIM:617156
Argininemia
Hyperactivity, Irritability, Spastic gait OMIM:207800
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Galloway-Mowat Syndrome 1
Ataxia, Hypoalbuminemia OMIM:251300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Broad-based gait, Ataxia ORPHA:438216
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Marburg Hemorrhagic Fever
Aggressive behavior, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammone... ORPHA:99826
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Delayed speech and language development, Dysphagia, Irritability ORPHA:447997
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk OMIM:617864
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Secondary Intestinal Lymphangiectasia
Hypocholesterolemia, Decreased prealbumin level, Reduced circulating transferrin concentration, H... ORPHA:90363
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypoalbuminemia, Abnormal circulating fatty-acid concen... ORPHA:2298
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine concen... OMIM:603041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Acute Disseminated Encephalomyelitis
Abnormal spinal cord morphology, Myelitis, Aggressive behavior, Irritability ORPHA:83597
Primary Sclerosing Cholangitis
Depression, Hypoalbuminemia ORPHA:171
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Smith-Lemli-Opitz Syndrome
Aggressive behavior, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Self-mutilation, Hypoalb... OMIM:270400
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Choreoacanthocytosis
Hyperactivity, Aggressive behavior, Head-banging, Self-injurious behavior, Hair-pulling, Falls, A... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior, Absent speech OMIM:619931
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:231226
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Tuberous Sclerosis Complex
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal social behavior, Impulsivit... ORPHA:805
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation ORPHA:424
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Gait ataxia, Hyperactivity, Aggressive behavior, Delayed speech and language development, Ataxia,... OMIM:614756
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Goodpasture Syndrome
Increased blood urea nitrogen, Anemia OMIM:233450
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Beta-Thalassemia Major
Irritability, Abnormality of iron homeostasis ORPHA:231214
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Dysphagia OMIM:617527
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Adrenomyeloneuropathy
Abnormal spinal cord morphology, Dorsal column degeneration, Atrophy of the spinal cord ORPHA:139399
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:619381
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Inability to walk, Decreased serum iron, Broad-based gait, Osteopen... ORPHA:438213
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... OMIM:619534
Benign Schwannoma
Allodynia ORPHA:252164
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Irritability ORPHA:68
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Superficial Siderosis
Abnormal spinal cord morphology, Atrophy of the spinal cord ORPHA:247245
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Depression, Anxiety ORPHA:289390
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Limb Body Wall Complex
Spina bifida occulta, Abnormal spinal cord morphology, Spina bifida ORPHA:2369
Tetrasomy 9P
Inappropriate behavior, Abnormal spinal cord morphology ORPHA:3310
Pmm2-Cdg
Reduced thyroxin-binding globulin, Ataxia, Hypoalbuminemia ORPHA:79318

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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