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

Download data as:  TSV  XLS

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Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
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)
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)
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)
Thymus N/A heterozygote 0.0% (0 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

View images
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
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Excessive shyness OMIM:618221
Malaria
Anemia, Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia... ORPHA:673
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp... OMIM:237800
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
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
Hyperactivity, Abnormal social behavior ORPHA:436151
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p... 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
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Cholestasis, Progressive Familial Intrahepatic, 12
Increased serum bile acid concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbiliru... OMIM:620010
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Short stature, Obesity, Reduced social reciprocity, Aggressive behavior ORPHA:329249
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia OMIM:609153
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... 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, Increased serum bile acid concentration, Iron deficiency a... OMIM:616278
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolytic anemia ORPHA:713
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Reduced social reciprocity, Motor stereotypy, Self-injurious behavior OMIM:617820
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Incr... OMIM:610600
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:620125
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Hsd10 Disease
Postnatal growth retardation, Abnormal social behavior, Gait disturbance, Ataxia, Dysphagia, Chor... ORPHA:391417
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti... OMIM:266200
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Neonatal hyperbilirubinemia 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
Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen... OMIM:618892
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Hypermanganesemia With Dystonia 1
Steppage gait, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycythem... OMIM:613280
Hereditary Elliptocytosis
Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper... ORPHA:288
Foxg1 Syndrome
Difficulty walking, Inability to walk, Severe postnatal growth retardation, Bruxism, Decreased bo... ORPHA:561854
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Hijazi-Reis Syndrome
Hyperbilirubinemia, Gait disturbance OMIM:301094
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Growth delay, Ataxia, Reduced social reciprocity, Dysphagia, Aggressive behavior OMIM:619738
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb... ORPHA:822
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocyto... OMIM:608885
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
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Anemia OMIM:620366
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:177735
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Atypical Rett Syndrome
Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Impaired pain sensation, Ga... ORPHA:3095
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy, Mild... ORPHA:530983
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism OMIM:264350
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Attention deficit hyperactivity disorder, Ataxia, Reduced social reciprocity ORPHA:137831
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors, Abnormal social behavior ORPHA:444002
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Recurrent hand flapping, Gait disturba... ORPHA:544254
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced behavior, Chorea, Sho... ORPHA:309246
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... ORPHA:682
Corticosteroid-Binding Globulin Deficiency
Reduced circulating cortisol-binding globulin concentration, Decreased circulating cortisol level... OMIM:611489
Wolcott-Rallison Syndrome
Difficulty walking, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hy... ORPHA:1667
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Limb ataxia, Depression, Dysdiadochokinesis, Compulsive behaviors, Gait apraxia, Ga... OMIM:615157
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level OMIM:614736
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbilirubi... ORPHA:79303
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise, Hemolytic anemia ORPHA:57
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Glycogen Storage Disease Xii
Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity, Nor... OMIM:611881
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hypermethionine... OMIM:614300
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Autism, Susceptibility To, 3
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608049
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Abetalipoproteinemia
Steatorrhea, Steppage gait, Anemia, Decreased HDL cholesterol concentration, Broad-based gait, Hy... ORPHA:14
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hypoalbuminemia, Hyperspl... ORPHA:64743
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated hyperbiliru... 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
Hyperbilirubinemia, Decreased circulating cortisol level OMIM:609734
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Childhood Disintegrative Disorder
Abnormal emotion, Reduced social reciprocity, Motor stereotypy ORPHA:168782
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia, Glucocortocoid-insensitive primary... ORPHA:171876
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Genetic Recurrent Myoglobinuria
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Birk-Landau-Perez Syndrome
Limb ataxia, Hyperkalemia, Difficulty walking, Increased circulating creatine kinase MB isoform, ... OMIM:617595
X-Linked Intellectual Disability, Van Esch Type
Attention deficit hyperactivity disorder, Failure to thrive, Short stature, Reduced social recipr... ORPHA:163976
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Ataxia, Abnormal social behavior, Disinhibition ORPHA:1020
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Broad-based gait, Impulsivity, Ataxia, Reduced social reciprocit... OMIM:617854
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticuloc... OMIM:557000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... ORPHA:90038
East Syndrome
Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level, Ataxia, Hy... ORPHA:199343
Pyruvate Carboxylase Deficiency
Tip-toe gait, Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Intrauterine growth retardation, Obesity, Postnatal growth retardation, Reduced social reciprocity ORPHA:254531
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Hyperactivity, Depression, Recurrent hand flapping, Exces... ORPHA:449291
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Mirage Syndrome
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... ORPHA:79277
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Myoclonic-Astatic Epilepsy
Abnormal emotion, Hyperactivity, Unsteady gait, Ataxia, Reduced social reciprocity, Attention def... ORPHA:1942
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Neonatal hyperbilirubinemia ORPHA:293939
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Reduced social reciprocity, Aggressive behavior OMIM:616083
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Hepatosplenomegaly, Ataxia, Conjugated hyperbilirubinemia, Stomatoc... ORPHA:168577
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... ORPHA:94093
Renal Hypoplasia, Bilateral
Hyperkalemia, Hyponatremia, Anemia ORPHA:97362
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Depression, Punding, Abnormal social behavior ORPHA:64280
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Abnormal social behavior, Emotional lability, Gait ataxia, Progressive gait ataxia ORPHA:309256
Wagro Syndrome
Agitation, Emotional lability, Low frustration tolerance, Compulsive behaviors, Polyphagia, Obesi... OMIM:612469
Lathosterolosis
Anisopoikilocytosis, Hyperammonemia, Elevated circulating lathosterol concentration, Hyperbilirub... OMIM:607330
Young-Onset Parkinson Disease
Bradykinesia, Agitation, Gait imbalance, Depression, Impulsivity, Restless legs, Reduced social r... ORPHA:2828
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon... ORPHA:275761
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Adrenal Insufficiency
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... ORPHA:95409
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Liddle Syndrome
Hypokalemia ORPHA:526
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing... OMIM:300912
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Hyperkalemia, Decreased circulating cortisol level ORPHA:90791
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Gait disturbance, Short stature, Failure to thrive, Reduced social reciprocity,... OMIM:300352
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Addison Disease
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... ORPHA:85138
Rett Syndrome, Congenital Variant
Irritability, Tongue thrusting, Chorea, Athetosis, Reduced social reciprocity, Motor stereotypy, ... 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
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level ORPHA:90790
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid conc... ORPHA:567983
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Hypokalemia OMIM:604278
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Abnormal social behavior, Depression, Chorea, Emotional lability, Progressive... ORPHA:309271
Reynolds Syndrome
Steatorrhea, Calcinosis, Hyperbilirubinemia, Splenomegaly, Lymphopenia OMIM:613471
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Pontocerebellar Hypoplasia, Type 8
Chorea, Reduced social reciprocity, Dysphagia, Gait ataxia OMIM:614961
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Ataxia, Reduced social reciprocity OMIM:256600
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Reduced social reciprocity, Motor stereotypy, Attention deficit hyper... ORPHA:261197
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hyperaldosteronism OMIM:214700
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Short stature, Ataxia, Reduced social reciprocity, Motor stereotypy, Attent... OMIM:615656
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:404
Wilson Disease
Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro... OMIM:277900
Caroli Syndrome
Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbilirubinemia, Hy... ORPHA:480520
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia OMIM:175500
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior, Progressive gait ataxia ORPHA:309263
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia ORPHA:403
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Intellectual Developmental Disorder, Autosomal Dominant 1
Postnatal growth retardation, Recurrent hand flapping, Polyphagia, Short stature, Inappropriate l... OMIM:156200
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Primary hyperaldosteronism, Athetosis, Hypokalemia OMIM:615474
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Alg11-Cdg
Failure to thrive, Ataxia, Reduced social reciprocity ORPHA:280071
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Obesity, Abnormal aggressive, impulsive or violent behavi... ORPHA:96263
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Splenomegaly, Conjugated hype... ORPHA:186
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia, Ataxia ORPHA:31826
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Glucocortoc... ORPHA:231625
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Athetosis, Elevated circulating p... OMIM:614866
Cystinosis
Hypokalemia, Hypophosphatemia, Gait disturbance ORPHA:213
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness ORPHA:100924
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:90673
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Ataxia, Hypomagnesemia, Hyper... OMIM:612780
Fg Syndrome Type 1
Abnormal social behavior, Broad-based gait, Compulsive behaviors, Short stature, Slender build, A... ORPHA:93932
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ... ORPHA:168558
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Abnormality of circulating cortisol level ORPHA:320
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating renin level, ... ORPHA:289548
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Athetosis, Hyperaldosteronism ORPHA:369929
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Inability to walk, Delayed early-childhood social milestone develop... ORPHA:300570
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Nonprogressive cerebellar ataxia, Unsteady gait, Ataxia, Dysmetria, Agg... ORPHA:314647
Beck-Fahrner Syndrome
Depression, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618798
Familial Hyperaldosteronism Type Iii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Isolated Biliary Atresia
Xanthelasma, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Lead Poisoning
Delayed puberty, Anorexia, Depression, Attention deficit hyperactivity disorder, Reduced social r... ORPHA:330015
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen... ORPHA:340
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Emotional lability, Compulsive behaviors, Reduced socia... OMIM:309520
Caroli Disease
Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism OMIM:613090
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Hypokalemia, Hyperaldosteronism, Paradoxical increased cortisol ... ORPHA:1501
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
1P21.3 Microdeletion Syndrome
Excessive shyness, Obesity, Self-injurious behavior, Abnormal eating behavior, Self-mutilation, A... ORPHA:293948
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly, Anemia ORPHA:84081
Liver Disease, Severe Congenital
Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Hypona... OMIM:619991
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Compulsive behaviors, Short sta... ORPHA:177907
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Reduced social reciprocity, Impulsivity ORPHA:8
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Elevated circulating C-reactive protein concentration, Increased B cell count, Leukocytos... OMIM:620376
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tip-toe gait, Falls, Broad-based gait, Hyperbilirubinemia, Ataxia OMIM:619475
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Impaired pain sensation, Unsteady gait, Reduced social recipr... OMIM:606232
Degcags Syndrome
Anemia, Iron deficiency anemia, Pancytopenia, Hyperbilirubinemia, Abnormal spleen morphology, Leu... OMIM:619488
Ogden Syndrome
Hyperbilirubinemia, Polycythemia, Thrombocytopenia, Iron deficiency anemia OMIM:300855
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Osteootohepatoenteric Syndrome
Anemia, Increased serum bile acid concentration, Hypokalemia OMIM:619377
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly 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
Increased circulating thyroglobulin concentration, Hyperbilirubinemia OMIM:218700
Pearson Syndrome
Steatorrhea, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, H... ORPHA:699
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili... ORPHA:99829
Niemann-Pick Disease Type C
Abnormal social behavior, Depression, Chorea, Low frustration tolerance, Compulsive behaviors, Ga... ORPHA:646
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal aggressive, impulsive or violent behavior, Inability to walk, Abnormal soc... ORPHA:1675
7Q11.23 Microduplication Syndrome
Hyperactivity, Polyphagia, Short stature, Growth delay, Obesity, Unsteady gait, Reduced social re... ORPHA:96121
Hardikar Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism OMIM:301068
Bartter Syndrome, Type 3
Increased circulating renin level, Hypokalemia, Hyperchloriduria, Hyperaldosteronism OMIM:607364
Mend Syndrome
Abnormal social behavior, Hyperactivity, Short stature, Failure to thrive, Aggressive behavior ORPHA:401973
Neurooculorenal Syndrome
Decreased circulating cortisol level, Conjugated hyperbilirubinemia OMIM:620305
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abdominal obesity, Obesity, Abnormal fear-induced behavior OMIM:219090
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Autoimmune hemolytic anemia, Hypokalemia, Elevated circulating C-reactive p... OMIM:619573
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating cortisol level, Hypochloremia ORPHA:90794
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Polydipsia, Impaired pain sensation, Depression, Emotional lability, Compulsive ... ORPHA:293987
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Congenital Disorder Of Deglycosylation 2
Reduced social reciprocity, Dysphagia OMIM:619775
Gitelman Syndrome
Increased circulating renin level, Hypomagnesemia, Ataxia, Hypokalemia OMIM:263800
Mercury Poisoning
Hypokalemia ORPHA:330021
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia, Short stat... ORPHA:404448
Tuberous Sclerosis Complex
Abnormal social behavior, Hyperactivity, Depression, Impulsivity, Repetitive compulsive behavior,... 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
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul... OMIM:619534
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Helsmoortel-Van Der Aa Syndrome
Irritability, Hyperactivity, Polyphagia, Compulsive behaviors, Short stature, Failure to thrive, ... OMIM:615873
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism OMIM:602522
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Decreased circulating cortisol level, Hypokalemia ORPHA:90795
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating corticosterone level, Decreased circulating renin level, Decreased circulat... ORPHA:90793
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia, Hype... ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Elevated serum 11-deoxycortisol, Hypokalemia OMIM:202010
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Abnormal social behavior, Slender build, Inappropriate laughter, Ov... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Abnormal social behavior, Slender build, Inappropriate laughter, Ov... ORPHA:363958
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia, Increased circulating cortisol level ORPHA:97282
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hyponatremia, D... OMIM:201750
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Difficulty walking, Gait ataxia, Slender build, Reduced social recipro... ORPHA:457359
Nelson Syndrome
Secondary hypercortisolism, Hypokalemia, Increased circulating cortisol level ORPHA:199244
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Ataxia, Hypokalemia OMIM:618426
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Hyperamylasem... ORPHA:99826
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Trichothiodystrophy
Intrauterine growth retardation, Reduced social reciprocity, Gait ataxia ORPHA:33364
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:241200
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... OMIM:219800
Gitelman Syndrome
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Primary hyperaldosteronism, H... ORPHA:358
Oculocerebrorenal Syndrome Of Lowe
Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hyperaldosteronism, Hyperc... 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
Postnatal growth retardation, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Abnormal fear-induced behavior, Emotional lability, Hyperactivity, ... ORPHA:353277
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Williams Syndrome
Gait imbalance, Abnormal social behavior, Depression, Compulsive behaviors, Gait disturbance, Sho... ORPHA:904
Distal Renal Tubular Acidosis
Hypokalemia, Hemolytic anemia ORPHA:18
Scorpion Envenomation
Increased circulating creatine kinase MB isoform, Ataxia, Increased circulating NT-proBNP concent... ORPHA:466677
Johanson-Blizzard Syndrome
Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration OMIM:243800
Leprechaunism
Increased circulating renin level, Hypokalemia, Hyperaldosteronism ORPHA:508
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Growth delay, Oppositional defiant disorder, Obesity, Reduced social reciprocity, Dys... OMIM:607872
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Proximal Renal Tubular Acidosis
Bicarbonaturia, Hypokalemia ORPHA:47159
Mowat-Wilson Syndrome
Inability to walk, Broad-based gait, Impaired pain sensation, Decreased body weight, Short statur... ORPHA:2152
17Q11 Microdeletion Syndrome
Delayed puberty, Reduced social reciprocity, Intrauterine growth retardation, Short stature 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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