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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
decreased vertical activity Gria1em1(IMPC)Hmgu HOM Early adult 7.15×10-07
decreased prepulse inhibition Gria1em1(IMPC)H HOM Early adult 5.49×10-06
decreased freezing behavior Gria1em1(IMPC)H HOM Late adult 1.04×10-08
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
hypoalgesia Gria1em1(IMPC)H HOM   Early adult 4.80×10-06 *
impaired cued conditioning behavior Gria1em1(IMPC)H HOM Late adult 4.88×10-07
decreased prepulse inhibition Gria1em1(IMPC)Hmgu HOM   Early adult 6.83×10-05
impaired contextual conditioning behavior Gria1em1(IMPC)H HOM Late adult 6.61×10-10
increased blood urea nitrogen level Gria1em1(IMPC)H HOM Early adult 1.36×10-06
increased circulating alkaline phosphatase level Gria1em1(IMPC)Hmgu HOM Early adult 7.74×10-05
abnormal locomotor behavior Gria1em1(IMPC)H HOM Early adult 6.41×10-11
increased circulating iron level Gria1em1(IMPC)H HOM Late adult 6.96×10-07
abnormal freezing behavior Gria1em1(IMPC)H HOM   Late adult 1.40×10-08
decreased exploration in new environment Gria1em1(IMPC)H HOM Middle aged adult 3.96×10-05
abnormal gait Gria1em1(IMPC)H HOM Early adult 4.45×10-14
hyperactivity Gria1em1(IMPC)H HOM Early adult 0.00
decreased startle reflex Gria1em1(IMPC)Hmgu HOM Early adult 4.99×10-05
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 *
hyperactivity Gria1em1(IMPC)Hmgu HOM Early adult 1.29×10-11
abnormal gait Gria1em1(IMPC)H HOM Late adult 2.25×10-10
increased circulating serum albumin level Gria1em1(IMPC)H HOM   Late adult 8.07×10-05

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

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Echo

M-Mode Images

99 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
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior OMIM:619931

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Mania, Depression OMIM:125480
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Basal Ganglia Calcification, Idiopathic, 4
Dementia, Attention deficit hyperactivity disorder, Depression OMIM:615007
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions, Aggressive behavior OMIM:618103
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Impulsivity, Aggressive behavior OMIM:300615
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Diabetes Mellitus, Permanent Neonatal, 4
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:618858
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Diabetes Mellitus, Transient Neonatal, 3
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:610582
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:606176
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c OMIM:609812
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Maturity-Onset Diabetes Of The Young, Type 13
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:616329
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
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
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment... OMIM:619191
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Frontotemporal Dementia
Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri... OMIM:600274
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Gait ataxia, Limb... OMIM:208920
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Elevated hemoglobin A1c, Gait ataxia OMIM:616192
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Elevated hemoglobin A1c OMIM:616113
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing ORPHA:397933
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme... OMIM:616267
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Hsd10 Disease
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... ORPHA:100924
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Self-mutilation, Hyperuricemia OMIM:308950
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Confu... ORPHA:247585
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia OMIM:615924
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Familial Renal Glucosuria
Elevated hemoglobin A1c ORPHA:69076
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... ORPHA:444002
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior ORPHA:329249
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Dend Syndrome
Elevated hemoglobin A1c ORPHA:79134
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Aceruloplasminemia
Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, D... OMIM:604290
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia ORPHA:382
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Diarrhea 13
Hypoalbuminemia OMIM:620357
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Aggressive behavior, Depression, Impaired social interactions, Dysphagia OMIM:619738
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
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Mody
Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration ORPHA:552
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... ORPHA:2828
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Hypoalbuminemia, Dysphagia, Mental deterioration OMIM:254900
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... OMIM:614104
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia OMIM:618805
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Reni Syndrome
Mental deterioration, Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Chylomicron Retention Disease
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:246700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c OMIM:616539
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Irritab... OMIM:603553
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Abnormal emotion, Impaired social interactions, Attention d... ORPHA:1942
Bloom Syndrome
Leukemia, Elevated hemoglobin A1c OMIM:210900
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Immunodeficiency 27A
Hypoalbuminemia, Anorexia OMIM:209950
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Lipodystrophy, Congenital Generalized, Type 2
Splenomegaly, Hypertriglyceridemia, Polyphagia, Elevated hemoglobin A1c OMIM:269700
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Disinhibition, Ga... ORPHA:43
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Leishmaniasis
Hypoalbuminemia, Anorexia ORPHA:507
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... ORPHA:163681
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, At... ORPHA:48818
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Anorexia ORPHA:2494
Cockayne Syndrome Type 1
Ataxia, Gait disturbance, Difficulty walking, Increased blood urea nitrogen, Anemia ORPHA:90321
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia ORPHA:2070
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Inappropriate laughter, Self-... OMIM:103050
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
47,Xyy Syndrome
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Increased serum testosteron... ORPHA:8
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia, Cognitive impairment ORPHA:64743
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:619127
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Depression, Decreased circulating carnitine concentration, Decreased serum ... ORPHA:89842
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr... ORPHA:309271
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:848
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior ORPHA:309256
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... ORPHA:49041
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Congenital Enterovirus Infection
Irritability, Hypoalbuminemia, Hyperammonemia ORPHA:292
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Keratoderma Hereditarium Mutilans
Self-injurious behavior, Abnormal spinal cord morphology ORPHA:494
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... ORPHA:309263
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... ORPHA:52503
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia ORPHA:1667
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Elevated circulating growth hormone concentration, Decreased... OMIM:608747
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Ina... ORPHA:139396
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia, Progressive neurologic deterioration OMIM:618329
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Impaired social interactions, Comp... OMIM:309520
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Abnormal spinal cord morphology ORPHA:99947
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc... ORPHA:14
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Bacterial Toxic-Shock Syndrome
Confusion, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... ORPHA:36234
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Aicardi-Goutieres Syndrome 9
Irritability, Hypoalbuminemia, Self-mutilation OMIM:619487
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dementia, Hypoalbuminemia, High ... OMIM:277900
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... ORPHA:314647
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Trichohepatoenteric Syndrome 1
Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis, Hypermethioninemia, Cogni... OMIM:222470
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hypoalbuminemia OMIM:617303
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Tay-Sachs Disease
Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Tremor, Inability to... ORPHA:845
Hypermanganesemia With Dystonia 1
Steppage gait, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbiliru... OMIM:613280
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hypoalbuminemia, Dysmetria, Hypocholesterolemia OMIM:212065
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depressi... ORPHA:646
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity... ORPHA:93932
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Dysphagia ORPHA:85443
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia, Anorexia ORPHA:51890
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Confusion, Anorexia, Aggressive behavior, Hyp... ORPHA:99826
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia OMIM:235510
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Dysdiadochokinesis, Gait disturbance, Hyperglycine... ORPHA:309854
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Ataxia OMIM:616881
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Choreoacanthocytosis
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia ORPHA:438216
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Ataxia OMIM:251300
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Hypoalbuminemia ORPHA:505248
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Trigeminal Neuralgia
Allodynia ORPHA:221091
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... ORPHA:90363
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Primary Sclerosing Cholangitis
Hypoalbuminemia, Depression ORPHA:171
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating thymidine concentration, Elevated circulating deoxyuridine concentration, Al... OMIM:603041
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... ORPHA:2298
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
Irritability, Abnormal spinal cord morphology, Myelitis, Aggressive behavior ORPHA:83597
Dominant Beta-Thalassemia
Irritability, Abnormality of iron homeostasis ORPHA:231226
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Dysphagia OMIM:617301
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Smith-Lemli-Opitz Syndrome
Hyperactivity, Aggressive behavior, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co... OMIM:270400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Beta-Thalassemia Major
Irritability, Abnormality of iron homeostasis ORPHA:231214
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia, Anorexia OMIM:619381
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
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
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology ORPHA:88628
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Dysphagia OMIM:617527
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
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363958
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Inabi... ORPHA:438213
Amoebiasis Due To Free-Living Amoebae
Irritability, Abnormal spinal cord morphology, Restlessness ORPHA:68
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Dysphagia OMIM:618367
Benign Schwannoma
Allodynia ORPHA:252164
Superficial Siderosis
Atrophy of the spinal cord, Abnormal spinal cord morphology ORPHA:247245
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Williams Syndrome
Ataxia, Dysmetria, Depression, Gait disturbance, Gait imbalance, Attention deficit hyperactivity ... ORPHA:904
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Primary Sjögren Syndrome
Abnormal spinal cord morphology, Depression ORPHA:289390
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Tetrasomy 9P
Hyperactivity, Abnormal spinal cord morphology, Inappropriate behavior ORPHA:3310
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida ORPHA:2369
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia, Ataxia ORPHA:79318
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior OMIM:619931

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gria1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gria1.

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

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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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