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Gene: Gria1 MGI:95808

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Gene Summary

Name:
glutamate receptor, ionotropic, AMPA1 (alpha 1)
Synonyms:
Glur1,  Glr1,  Glr-1,  HIPA1,  GluA1,  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
impaired contextual conditioning behavior Gria1em1(IMPC)H HOM Late adult 6.61×10-10
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 *
increased circulating serum albumin level Gria1em1(IMPC)H HOM   Late adult 8.70×10-05
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
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
decreased prepulse inhibition Gria1em1(IMPC)H HOM Early adult 5.49×10-06
impaired cued conditioning behavior Gria1em1(IMPC)H HOM Late adult 4.88×10-07
hyperactivity Gria1em1(IMPC)H HOM Early adult 0.00
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
decreased exploration in new environment Gria1em1(IMPC)H HOM Late adult 9.48×10-07
increased circulating amylase level Gria1em1(IMPC)Hmgu HOM Early adult 6.18×10-05
abnormal gait Gria1em1(IMPC)H HOM Late adult 2.25×10-10
decreased exploration in new environment Gria1em1(IMPC)H HOM Middle aged adult 3.96×10-05
decreased freezing behavior Gria1em1(IMPC)H HOM Late adult 1.04×10-08
decreased vertical activity Gria1em1(IMPC)Hmgu HOM Early adult 7.15×10-07
decreased prepulse inhibition Gria1em1(IMPC)Hmgu HOM   Early adult 6.83×10-05
hypoalgesia Gria1em1(IMPC)H HOM   Early adult 4.80×10-06 *
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 Lateral Orientation

23 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Attention deficit hyperactivity disorder, Hyperactivity 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
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Schizophrenia 19
Cognitive impairment OMIM:617629
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Depression, Negative affectivity, Aggressive behavior ORPHA:468726
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Chorea, Benign Hereditary
Anxiety, Dementia, Gait disturbance OMIM:118700
Intellectual Developmental Disorder, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyper... OMIM:620085
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Creutzfeldt-Jakob Disease
Apathy, Anxiety, Dementia, Memory impairment, Irritability, Gait ataxia, Depression OMIM:123400
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:610582
Brunner Syndrome
Self-injurious behavior, Aggressive behavior, Low frustration tolerance, Impulsivity OMIM:300615
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Irritability,... OMIM:172700
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk OMIM:606053
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Mental deterioration, Depression, Dysmetria OMIM:619191
Frontotemporal Dementia
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Dementia, Irr... OMIM:600274
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
Sandhoff Disease, Adult Form
Mental deterioration, Anxiety, Gait ataxia, Elevated circulating creatine kinase concentration ORPHA:309169
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Waddling gait, Ag... OMIM:616269
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619639
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired social interactions, Unsteady gait, Truncal... OMIM:608636
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c OMIM:609812
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Ataxia, Cognitive impairment, Anxiety, Memory impairment, Depression ORPHA:401901
Huntington Disease-Like 1
Unsteady gait, Anxiety, Dementia, Depression, Aggressive behavior, Dysmetria OMIM:603218
Maturity-Onset Diabetes Of The Young, Type 13
Elevated hemoglobin A1c, Reduced C-peptide level OMIM:616329
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Apathy, Falls, Short stepped shuffling gait, Motor deterioration, Anxiety... ORPHA:412066
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c OMIM:619278
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety, Dementia ORPHA:494541
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:618620
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity OMIM:605899
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Delayed social development, Dysm... OMIM:618090
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Ataxia, Cognitive impairment, Loss of ambulation, Dementia, Elevated circulating cre... OMIM:208920
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity, Agitation OMIM:309548
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Anxiety, Dementia, Dysdiadochokinesis, Depression, Dysmetria OMIM:604326
Huntington Disease-Like 2
Subcortical dementia, Apathy, Anxiety, Dementia, Inertia, Memory impairment, Irritability, Depres... OMIM:606438
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Agitation ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... ORPHA:101039
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Anxiety, Dementia, Memory impairment, Athetosis, Depression OMIM:615483
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Elevated hemoglobin A1c, Gait ataxia OMIM:616192
Childhood Disintegrative Disorder
Impaired social interactions, Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Pro... ORPHA:168782
Obsolete: Early-Onset Schizophrenia
Emotional lability, Polyphagia, Impairment in personality functioning, Abnormal emotion/affect be... ORPHA:96369
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Apathy, Falls, Anxiety, Memory impairment, Mental deterioration, Depression ORPHA:240085
Geniospasm 1
Anxiety OMIM:190100
Dystonia 11, Myoclonic
Depression, Agoraphobia, Anxiety, Panic attack OMIM:159900
Hyperprolinemia, Type I
Aggressive behavior, Hyperactivity, Ataxia OMIM:239500
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612924
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait ORPHA:411515
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Cognitive impairment, Hypercholeste... OMIM:616267
Polyendocrine-Polyneuropathy Syndrome
Elevated hemoglobin A1c, Ataxia OMIM:616113
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior, No social interaction ORPHA:329249
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612926
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:607250
Spinocerebellar Ataxia 48
Ataxia, Anxiety, Irritability, Mental deterioration, Gait ataxia, Depression, Dysmetria OMIM:618093
Myoclonus-Dystonia Syndrome
Depression, Anxiety, Personality disorder, Panic attack ORPHA:36899
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Anxiety, Dementia OMIM:605909
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Ataxia, Agitation, Disinhibition, Dementia, Abnormal social behavior, Memory i... ORPHA:1020
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612925
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia, Tremor, Dystonia OMIM:615924
Lennox-Gastaut Syndrome
Mental deterioration, Aggressive behavior, Hyperactivity, Falls ORPHA:2382
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Dystonia 12
Emotional lability, Anxiety, Depression, Unsteady gait OMIM:128235
Posttransplant Acute Limbic Encephalitis
Ataxia, Cognitive impairment, Anxiety, Memory impairment, Depression, Hyponatremia ORPHA:163921
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Steppage gait, Anxiety, Attention deficit hyperactivity disord... ORPHA:98818
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Broad-based gait OMIM:619470
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Aggressive behavior ORPHA:382
Familial Renal Glucosuria
Elevated hemoglobin A1c ORPHA:69076
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Posterior Cortical Atrophy
Anxiety, Ataxia, Inertia, Memory impairment ORPHA:54247
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior, Dysphagia, Choreoathetosis ORPHA:391417
Phenylketonuria
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... OMIM:261600
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Increased serum iron,... OMIM:615517
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Memory impairment, Self-inj... OMIM:619827
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Anxiety, Difficulty walking, Depression, Ataxia OMIM:619425
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Inability to walk, Gait disturbance, Difficulty walking, Anxiety... ORPHA:255
Juvenile Huntington Disease
Progressive cerebellar ataxia, Hyperactivity, Ataxia, Dementia, Irritability, Gait ataxia, Broad-... ORPHA:248111
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Pancytopenia,... OMIM:613845
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... ORPHA:231111
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Pr... OMIM:610042
Choreoacanthocytosis
Emotional lability, Progressive choreoathetosis, Anxiety, Dementia, Elevated circulating creatine... OMIM:200150
Huntington Disease
Inability to walk, Suicidal ideation, Apathy, Gait disturbance, Difficulty walking, Anxiety, Memo... ORPHA:399
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Anxiety, Aggressive behavior, Hyperactivity OMIM:609425
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Transient hyperphenylalaninemia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation ORPHA:208441
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... ORPHA:3077
Intellectual Developmental Disorder, X-Linked 107
Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity OMIM:301013
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Dend Syndrome
Elevated hemoglobin A1c ORPHA:79134
Aceruloplasminemia
Ataxia, Dementia, Increased circulating ferritin concentration, Decreased serum iron, Aceruloplas... OMIM:604290
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... OMIM:235400
Werner Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:615516
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Irritability, Increased total b... OMIM:267700
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... OMIM:274150
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Self-mutilation, Aggressive behavior, Hyperactivity, Impulsivity OMIM:604317
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Irritability, Elevated plasma citrulline, Memory impairmen... ORPHA:247585
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Mody
Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration ORPHA:552
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Aggressive behavior, Choreoathetosis OMIM:620023
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating alpha-fetoprotein concentration, Choreoathetosis, Elevated circulati... ORPHA:64753
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate OMIM:603358
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Dysphagia, Gait ataxia, Aggressive behavior, Impulsivity ORPHA:500180
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... ORPHA:254704
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Self-injurious behavior ORPHA:228402
Chylomicron Retention Disease
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia OMIM:246700
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Restlessness, Agitation, Anxiety, Aggressive behavior OMIM:300558
Perry Syndrome
Inappropriate behavior, Apathy, Suicidal ideation, Short stepped shuffling gait, Anxiety, Frontot... OMIM:168605
Cln5 Disease
Inability to walk, Hyperactivity, Ataxia, Unsteady gait, Anxiety, Dysdiadochokinesis, Mental dete... ORPHA:228360
Intellectual Developmental Disorder, Autosomal Dominant 7
Gait disturbance, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor OMIM:614104
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hyperactivity, Broad-based gait ORPHA:457260
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity, Irritability OMIM:275000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Progressive cerebellar ataxia, Unsteady gait, Anxiety, Bipolar affective disorder,... ORPHA:485350
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Aceruloplasminemia
Limb ataxia, Apathy, Ataxia, Cognitive impairment, Decreased circulating copper concentration, Me... ORPHA:48818
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Gait disturbance, Hyperactivity, Disinhibition, Cognitive impai... ORPHA:43
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Mental deterioration, Ataxia, Hypoalbuminemia OMIM:617575
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Polyphagia, Increased blood urea nitrogen ORPHA:251004
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Low self esteem, Dep... ORPHA:64280
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia ORPHA:79320
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c OMIM:616539
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Hyperactivity, Inappropriate laughter, Gait ataxia, Happy dem... OMIM:103050
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Stiff Person Spectrum Disorder
Emotional lability, Agoraphobia, Falls, Difficulty walking, Anxiety ORPHA:3198
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear/anxiety-related behavior, Apathy, Abnormal circulating porphyrin concentration, Dif... ORPHA:100924
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... ORPHA:449291
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Ataxia, Irritability, Increased total bilirubin, Hypertriglyceridemia, Increased... OMIM:603553
Young-Onset Parkinson Disease
Impaired social interactions, Apathy, Agitation, Cognitive impairment, Anxiety, Dementia, Frontal... ORPHA:2828
Neurodegeneration With Brain Iron Accumulation 5
Anxiety, Dementia, Mental deterioration, Akinesia, Aggressive behavior OMIM:300894
Myoclonic-Astatic Epilepsy
Impaired social interactions, Hyperactivity, Ataxia, Abnormal emotion/affect behavior, Unsteady g... ORPHA:1942
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Bloom Syndrome
Elevated hemoglobin A1c, Leukemia OMIM:210900
Developmental Delay, Language Impairment, And Ocular Abnormalities
Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity, Impulsivity OMIM:620141
Rasmussen Subacute Encephalitis
Emotional lability, Inability to walk, Hyperactivity, Cognitive impairment, Attention deficit hyp... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Cognitive impairment, Anxiety, Abnormal fear/anxiety-related behavior ORPHA:309246
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Lipodystrophy, Congenital Generalized, Type 2
Elevated hemoglobin A1c, Polyphagia, Hypertriglyceridemia, Splenomegaly OMIM:269700
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Mental deterioration, Gait ataxia, Unsteady gait, Hypoalbuminemia OMIM:254900
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:79230
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Hyperactivity, Ataxia, Inappropriate laughter, Dysphagia, Happy demeano... ORPHA:98794
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Fragile X Syndrome
Hyperactivity, Self-biting OMIM:300624
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Cockayne Syndrome Type 1
Gait disturbance, Ataxia, Difficulty walking, Anemia, Increased blood urea nitrogen ORPHA:90321
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentration OMIM:231100
Myopathy With Extrapyramidal Signs
Hyperactivity, Difficulty walking, Ataxia, Hypervalinemia, Elevated circulating creatine kinase c... OMIM:615673
Dopamine Beta-Hydroxylase Deficiency
Anemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Infantile Neuroaxonal Dystrophy
Emotional lability, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait, Choking episodes, Men... ORPHA:35069
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hyperactivity, Broad-based gait OMIM:300958
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anxiety, Abnormal circulating selenium concentration, Decreased plasma carn... ORPHA:89842
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Increased blood... ORPHA:447
Hepatoportal Sclerosis
Hyperbilirubinemia, Cognitive impairment, Hypoalbuminemia ORPHA:64743
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Hyperactivity, Gait disturbance, Ataxia, Anxiety, Motor deterioration, Dementi... ORPHA:168491
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hyperactivity, Irritability ORPHA:391307
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Cognitive impairment, Bipolar affective disorder, Self-injurious behavior,... OMIM:601853
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Cntnap2-Related Developmental And Epileptic Encephalopathy
Self-mutilation, Hyperactivity, Ataxia, Progressive language deterioration, Mental deterioration,... ORPHA:163681
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
Angelman Syndrome
Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Progressive gait ataxia, Happy demeanor, Br... OMIM:105830
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Attention deficit hyperactivity disorder, Aggressive behavior, Hyperactivity, Dysphoria OMIM:620242
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Progressive gait ataxia, Tip-toe gait, Abnormal social behavior, Gait ataxia ORPHA:309256
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
Congenital Enterovirus Infection
Hyperammonemia, Irritability, Hypoalbuminemia ORPHA:292
Chromosome Xq13 Duplication Syndrome
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive ... OMIM:301069
Beta-Thalassemia
Abnormality of iron homeostasis, Irritability ORPHA:848
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Optic Atrophy 11
Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Athetosis, Gait apraxia, Mildly ... OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 45
Anxiety, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Wolcott-Rallison Syndrome
Hyperammonemia, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Difficulty walking, Dementia, Progressive gait ataxia, Abnormal social behavi... ORPHA:309271
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Dysdiadochokinesis, Dysphagia, Mental deterioration, Gait atax... OMIM:610217
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Ataxia, Unsteady gait, Happy demeanor, Pica, Broad-based gait OMIM:617865
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Ataxia, Anxiety, Dementia, Inertia, Memory impairment, Gait ataxia, Depression,... ORPHA:93256
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Progressive neurologic deterioration, Hypoalbuminemia OMIM:618329
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Normocytic anemia, Increased blood urea ni... ORPHA:49041
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Athetosis ORPHA:52503
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Self-mutilation, Shyness, Self-injurious behavior, Aggressive behavior ORPHA:293948
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive gait ataxia, Abnormal social behavior, Progressive psychomotor de... ORPHA:309263
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Trigeminal Neuralgia
Allodynia, Depression, Episodic paroxysmal anxiety ORPHA:221091
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Gait ataxia, Exaggerated startle response, Dysmetria OMIM:618056
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Leishmaniasis
Hypoalbuminemia ORPHA:507
47,Xyy Syndrome
Impaired social interactions, Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
Angelman Syndrome
Polyphagia, Inability to walk, Hyperactivity, Ataxia, Anxiety, Inappropriate laughter, Self-injur... ORPHA:72
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
48,Xxxy Syndrome
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnormal aggressive,... ORPHA:96263
Abetalipoproteinemia
Ataxia, Broad-based gait, Decreased LDL cholesterol concentration, Steppage gait, Hyperbilirubine... ORPHA:14
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Aicardi-Goutieres Syndrome 9
Self-mutilation, Irritability, Hypoalbuminemia OMIM:619487
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... OMIM:608643
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Impaired social interactions, Hyperactivity, Low frustration tolerance, Aggre... OMIM:309520
Trichohepatoenteric Syndrome 1
Cognitive impairment, Hypermethioninemia, Increased serum iron, Abnormality of iron homeostasis, ... OMIM:222470
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hyperactivity, Gait disturbance, Ataxia, Difficulty walking, Memory impairment... ORPHA:139396
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased serum iron OMIM:206100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Hepatocellular Carcinoma
Emotional lability, Hypokalemia, Hyperbilirubinemia, Hyponatremia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Wilson Disease
Hypouricemia, Dementia, Increased circulating copper concentration, Hyperbilirubinemia, Decreased... OMIM:277900
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Tay-Sachs Disease
Gait disturbance, Inability to walk, Dysphagia, Tremor, Exaggerated startle response, Laryngeal d... ORPHA:845
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Self-mutilation, Hyperactivity OMIM:256800
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Steppage gait, Hypermanga... OMIM:613280
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Nonprogressive cerebellar ataxia, Unsteady gait, Ataxia, Abnormal social behavior, Memory impairm... ORPHA:314647
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:465508
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology ORPHA:99947
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Niemann-Pick Disease Type C
Gait disturbance, Apathy, Ataxia, Disinhibition, Cognitive impairment, Bipolar affective disorder... ORPHA:646
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)
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... ORPHA:36234
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk OMIM:620114
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Gait disturbance,... ORPHA:309854
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Decreased prealbumin level, Hypomagnesemia, Hypocalcemia, Hypoa... ORPHA:37042
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior, Broad-based gait ORPHA:93932
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Prader-Willi Syndrome Due To Translocation
Head-banging, Impaired social interactions, Anxiety, Attention deficit hyperactivity disorder, Ab... ORPHA:177907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Ataxia, Broad-based gait ORPHA:438216
Galloway-Mowat Syndrome 1
Ataxia, Hypoalbuminemia OMIM:251300
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Inability to walk, ... ORPHA:1675
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Tuberous Sclerosis Complex
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Self-... ORPHA:805
Marburg Hemorrhagic Fever
Hyperammonemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia,... ORPHA:99826
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
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
Mend Syndrome
Aggressive behavior, Hyperactivity, Abnormal social behavior ORPHA:401973
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, H... ORPHA:90363
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid co... ORPHA:2298
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity OMIM:617281
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Dysphagia, Allodynia, Elevated circulating deoxyuridine concentration, Elevated circulating thymi... OMIM:603041
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior OMIM:619931
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Hyperactivity, Ataxia, Dementia, Dysphagia, Mental deterioration, Akinesia, Dep... OMIM:234200
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
Aggressive behavior, Abnormal spinal cord morphology, Myelitis, Irritability ORPHA:83597
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Primary Sclerosing Cholangitis
Depression, Hypoalbuminemia ORPHA:171
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Dysphagia, Hair-pulling, Hyperactivity, Irritability ORPHA:447997
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Irritability ORPHA:231226
Choreoacanthocytosis
Head-banging, Emotional lability, Hair-pulling, Apathy, Hyperactivity, Falls, Anxiety, Loss of am... ORPHA:2388
Smith-Lemli-Opitz Syndrome
Self-mutilation, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Aggressive behavior, Hypoalb... OMIM:270400
Hyperekplexia 1
Exaggerated startle response OMIM:149400
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
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Agitation ORPHA:424
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
Abnormality of iron homeostasis, Irritability ORPHA:231214
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia ORPHA:521426
Beta-Thalassemia Intermedia
Elevated hepatic iron concentration, Abnormality of iron homeostasis 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
Dysphagia, Exaggerated startle response OMIM:617527
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Inappropriate laughter, Anxiety, Attention deficit hyperactivity disorder, Abno... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Inappropriate laughter, Anxiety, Attention deficit hyperactivity disorder, Abno... ORPHA:363958
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Adrenomyeloneuropathy
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology 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
Dystonia, Inability to walk, Osteoporosis, Osteopenia, Dysphagia, Exaggerated startle response, D... ORPHA:438213
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response OMIM:618367
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
Williams Syndrome
Gait disturbance, Overfriendliness, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Ab... ORPHA:904
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Primary Sjögren Syndrome
Depression, Anxiety, Abnormal spinal cord morphology ORPHA:289390
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Dysphagia, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522
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.

Order Mouse and ES Cells

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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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