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Gene: Grin3b MGI:2150393

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Gene Summary

Name:
glutamate receptor, ionotropic, NMDA3B
Synonyms:
NR3B

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
increased red blood cell distribution width Grin3btm1b(KOMP)Wtsi HOM Early adult 1.69×10-05
abnormal gait Grin3btm1b(KOMP)Wtsi HOM Early adult 6.29×10-10
increased circulating bilirubin level Grin3btm1b(KOMP)Wtsi HOM Early adult 1.94×10-08
increased circulating potassium level Grin3btm1b(KOMP)Wtsi HOM Early adult 5.39×10-05
decreased circulating triglyceride level Grin3btm1b(KOMP)Wtsi HOM Early adult 7.65×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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Human diseases caused by Grin3b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Grin3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Malaria
Hyperbilirubinemia, Gait imbalance, Anemia, Thrombocytopenia, Elevated circulating C-reactive pro... ORPHA:673
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:209850
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp... OMIM:601775
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen... OMIM:620010
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia, Short stature ORPHA:329249
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... OMIM:235700
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:182900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... ORPHA:71275
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Ataxia, Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Dy... OMIM:301310
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Reticulocytosis, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Motor stereotypy, Reduced social reciprocity OMIM:617820
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Hsd10 Disease
Postnatal growth retardation, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal soci... ORPHA:391417
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... OMIM:266200
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... OMIM:267700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia, Ataxia ORPHA:3363
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen... OMIM:618892
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Steppage gait, Hypermanganesemia, Unconjugat... OMIM:613280
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,... ORPHA:288
Foxg1 Syndrome
Difficulty walking, Inability to walk, Bruxism, Reduced social reciprocity, Decreased body weight... ORPHA:561854
Hijazi-Reis Syndrome
Hyperbilirubinemia, Gait disturbance OMIM:301094
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Reduced social reciprocity, Aggressive behavior, Dysphagia, Ataxia, Growth delay OMIM:619738
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556037
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hereditary Spherocytosis
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... ORPHA:822
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Inability to walk, Splenomegaly, Conjugated hyperbilirubinemia, Ataxia, Hyperkale... OMIM:608885
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... ORPHA:556030
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
Glycogen Storage Disease Vii
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto... OMIM:232800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Osteopetrosis, Autosomal Recessive 9
Anemia, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... OMIM:603553
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Atypical Rett Syndrome
Restrictive behavior, Impaired pain sensation, Inability to walk, Bruxism, Inappropriate laughter... ORPHA:3095
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Mild postnatal growth retardation, Hyperactivity, Ataxia, Motor stereot... ORPHA:530983
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hyperbilirubinemia, Splenomegaly OMIM:235555
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia OMIM:264350
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Reduced social reciprocity, Ataxia ORPHA:137831
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Abnormal social behavior, Compulsive behaviors ORPHA:444002
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... ORPHA:544254
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Gait disturbance, ... ORPHA:682
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Postnatal growth retardation, Chorea, Sho... ORPHA:309246
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Anemia, Reduced circulating cortisol-binding g... OMIM:611489
Wolcott-Rallison Syndrome
Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron defic... ORPHA:1667
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior,... OMIM:615157
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steator... ORPHA:79303
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Splenomegaly OMIM:269920
Glycogen Storage Disease Xii
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... OMIM:611881
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608049
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Abetalipoproteinemia
Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Hypocholesterolemia, Abnormal cir... ORPHA:14
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... OMIM:618278
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Fetal Cytomegalovirus Syndrome
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia ORPHA:294
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Increased circulating renin level, Hyperkalemia, Glucocortocoid-insensitive primary... ORPHA:171876
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Birk-Landau-Perez Syndrome
Difficulty walking, Limb ataxia, Increased circulating creatine kinase MB isoform, Hyperkalemia, ... OMIM:617595
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Intrauterine growth retardation, Reduced social reciprocity, Attention deficit... ORPHA:163976
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Abnormal social behavior, Agitation, Ataxia ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Inability to walk, Reduced social reciprocity, Attention deficit hyperactivity ... OMIM:617854
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Reticulo... OMIM:557000
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Tip-toe gait, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hy... ORPHA:3008
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
East Syndrome
Hypomagnesemia, Hyperaldosteronism, Difficulty walking, Inability to walk, Hypokalemia, Ataxia, I... ORPHA:199343
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Conjugated hyperbilir... OMIM:619662
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Obesity, Reduced social reciprocity, Intrauterine growth retardation ORPHA:254531
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Reduced s... ORPHA:449291
Mirage Syndrome
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen OMIM:617053
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Hyperbilirubinemia, Splenomegaly OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Myoclonic-Astatic Epilepsy
Abnormal emotion, Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperacti... ORPHA:1942
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Tip-toe gait ORPHA:293939
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Aggressive behavior, Reduced social reciprocity OMIM:616083
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Ataxia, Conjugated hyperbilirub... ORPHA:168577
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Renal Hypoplasia, Bilateral
Hyponatremia, Anemia, Hyperkalemia ORPHA:97362
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
Wagro Syndrome
Obesity, Emotional lability, Reduced social reciprocity, Low frustration tolerance, Polyphagia, A... OMIM:612469
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Anisopoikiloc... OMIM:607330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f... OMIM:251880
Young-Onset Parkinson Disease
Depression, Gait imbalance, Restless legs, Reduced social reciprocity, Impulsivity, Bradykinesia,... ORPHA:2828
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemi... ORPHA:95409
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp... ORPHA:275761
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Liddle Syndrome
Hypokalemia ORPHA:526
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Bulimia, Postnatal growth retardation, Stereotypical body rocking, Bruxism, Re... OMIM:300912
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia ORPHA:361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level ORPHA:90791
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis ORPHA:39812
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Failure to thrive, Reduced social reciprocity, Aggressive behavior, Attention d... OMIM:300352
Addison Disease
Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, Decreas... ORPHA:85138
Rett Syndrome, Congenital Variant
Bruxism, Chorea, Reduced social reciprocity, Irritability, Tongue thrusting, Athetosis, Motor ste... OMIM:613454
Cystic Echinococcosis
Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia ORPHA:90790
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypokalemia, Decreased circulating renin level OMIM:613677
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Splenomegaly, Conjugated hyperbili... ORPHA:567983
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Metachromatic Leukodystrophy, Adult Form
Depression, Difficulty walking, Chorea, Emotional lability, Progressive gait ataxia, Abnormal soc... ORPHA:309271
Reynolds Syndrome
Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Steatorrhea OMIM:613471
Pontocerebellar Hypoplasia, Type 8
Chorea, Gait ataxia, Dysphagia, Reduced social reciprocity OMIM:614961
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Reduced social reciprocity, Ataxia OMIM:256600
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Reduced social reciprocity, Attention deficit hyperactivity disorder,... ORPHA:261197
Chromosome 15Q11.2 Deletion Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxia, Short stature, Moto... OMIM:615656
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ... OMIM:277900
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:214700
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:404
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Emotional lability, Abnormal social behavior ORPHA:309263
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Postnatal growth retardation, Inappropriate laughter, Bruxism, Recurrent... OMIM:156200
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Alg11-Cdg
Failure to thrive, Reduced social reciprocity, Ataxia ORPHA:280071
48,Xxxy Syndrome
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, impulsive o... ORPHA:96263
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... ORPHA:186
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Cystinosis
Hypokalemia, Hypophosphatemia, Gait disturbance ORPHA:213
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated circulating phytanic acid concentration, Hepatosplenomegaly, Splenomegaly, Increased cir... OMIM:614866
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Increased circulating cortisol level, Glucocortoc... ORPHA:231625
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Fg Syndrome Type 1
Broad-based gait, Slender build, Attention deficit hyperactivity disorder, Short stature, Abnorma... ORPHA:93932
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Ataxia, Dysdiadochokinesis, Increased circulatin... OMIM:612780
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... ORPHA:168558
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... ORPHA:289548
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Postnatal growth retardation, Emotional lability, Reduced social reciprocity, ... ORPHA:300570
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Athetosis, Hypokalemia ORPHA:369929
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive cerebellar ataxia, Abnormal... ORPHA:314647
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating renin level ORPHA:320
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia ORPHA:544482
Isolated Biliary Atresia
Xanthelasma, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Depression, Reduced social reciprocity OMIM:618798
Lead Poisoning
Depression, Somatic sensory dysfunction, Reduced social reciprocity, Attention deficit hyperactiv... ORPHA:330015
Familial Hyperaldosteronism Type Iii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... ORPHA:340
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low frustration tolerance, Emotional lability, Reduced social reciprocity, Aggressive behavior, H... OMIM:309520
Caroli Disease
Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis ORPHA:53035
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Senior-Boichis Syndrome
Anemia, Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:613090
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior,... ORPHA:293948
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Hypokalemia, Elevated serum 11-deoxycor... ORPHA:1501
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalcemia, Hyper... OMIM:619991
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Anemia, Thrombocytopenia,... OMIM:620376
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Intrauterine growth retardation, Obesity, Reduced social ... ORPHA:177907
47,Xyy Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity, Reduced social reciprocity ORPHA:8
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Falls, Tip-toe gait, Hyperbilirubinemia, Ataxia OMIM:619475
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Bruxism, Reduced social reciprocity, Aggressive behavi... OMIM:606232
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Degcags Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Leukopenia, Abnormal spleen morphology, Iro... OMIM:619488
Ogden Syndrome
Thrombocytopenia, Hyperbilirubinemia, Polycythemia, Iron deficiency anemia OMIM:300855
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Osteootohepatoenteric Syndrome
Hypokalemia, Anemia, Increased serum bile acid concentration OMIM:619377
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Splenomegaly, Polysplenia OMIM:613610
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Pearson Syndrome
Ataxia, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, A... ORPHA:699
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... ORPHA:99829
Niemann-Pick Disease Type C
Depression, Chorea, Low frustration tolerance, Disinhibition, Progressive gait ataxia, Aggressive... ORPHA:646
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Dysmetria, Reduced social reciprocity, Aggressive behavior, Mot... ORPHA:96121
Hardikar Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:301068
Bartter Syndrome, Type 3
Hyperaldosteronism, Increased circulating renin level, Hyperchloriduria, Hypokalemia OMIM:607364
Mend Syndrome
Failure to thrive, Aggressive behavior, Hyperactivity, Short stature, Abnormal social behavior ORPHA:401973
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia OMIM:620305
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia ORPHA:90794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Impaired pain sensation, Obesity, Emotional labi... ORPHA:293987
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... OMIM:619573
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Congenital Disorder Of Deglycosylation 2
Dysphagia, Reduced social reciprocity OMIM:619775
Mercury Poisoning
Hypokalemia ORPHA:330021
Gitelman Syndrome
Hypokalemia, Increased circulating renin level, Ataxia, Hypomagnesemia OMIM:263800
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... ORPHA:404448
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... ORPHA:805
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Aplasia of the thymus OMIM:620186
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Bruxism, Intrauterine growth retardation, Obesity, Reduced social reciprocity,... OMIM:615873
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:601678
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:602522
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level ORPHA:90795
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Obesity, Emotional la... ORPHA:353281
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De... ORPHA:90793
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia, Increased circulati... ORPHA:89938
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Inappropriate laughter, Postnatal growth retardation, Overfriendliness, Attention ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Inappropriate laughter, Postnatal growth retardation, Overfriendliness, Attention ... ORPHA:363958
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level OMIM:202010
Vipoma
Hypokalemia, Hypercalcemia, Increased circulating cortisol level, Normochromic anemia ORPHA:97282
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... OMIM:201750
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Difficulty walking, Slender build, Large for gestational age, Gait ataxia, Reduced social recipro... ORPHA:457359
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia, Ataxia OMIM:618426
Nelson Syndrome
Hypokalemia, Increased circulating cortisol level, Secondary hypercortisolism ORPHA:199244
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Trichothiodystrophy
Intrauterine growth retardation, Gait ataxia, Reduced social reciprocity ORPHA:33364
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Splenome... OMIM:219800
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem... OMIM:241200
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Primary hyper... ORPHA:358
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammone... ORPHA:534
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased circulating cortisol level ORPHA:786
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Failure to thrive, Abnormal fear-induced behavior, Postnatal growth reta... ORPHA:353277
Rabson-Mendenhall Syndrome
Hypokalemia, Increased C-peptide level ORPHA:769
Williams Syndrome
Depression, Failure to thrive in infancy, Obesity, Gait imbalance, Dysmetria, Overfriendliness, A... ORPHA:904
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Scorpion Envenomation
Hypokalemia, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP co... ORPHA:466677
Johanson-Blizzard Syndrome
Splenomegaly, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Leprechaunism
Hyperaldosteronism, Increased circulating renin level, Hypokalemia ORPHA:508
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Oppositional defiant disorder, Reduced social reciprocity, Self-mutilation, Aggressive b... OMIM:607872
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Mowat-Wilson Syndrome
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Reduced social reciprocity... ORPHA:2152
17Q11 Microdeletion Syndrome
Short stature, Intrauterine growth retardation, Delayed puberty, Reduced social reciprocity ORPHA:97685
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286

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 Grin3b

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 Grin3b.

No publications found that use IMPC mice or data for Grin3b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Grin3btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Grin3btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Grin3btm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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