Gene Summary

Name:
expressed sequence AU021092
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged heart AU021092tm1b(KOMP)Wtsi HET Early adult 0.00
hyperactivity AU021092tm1b(KOMP)Wtsi HET   Early adult 5.07×10-05
decreased circulating creatinine level AU021092tm1b(KOMP)Wtsi HOM Early adult 8.08×10-05
abnormal kidney morphology AU021092tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal heart morphology AU021092tm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged heart AU021092tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased circulating glucose level AU021092tm1b(KOMP)Wtsi HOM   Early adult 4.59×10-06
abnormal heart morphology AU021092tm1b(KOMP)Wtsi HET Early adult 0.00
increased heart weight AU021092tm1b(KOMP)Wtsi HOM Early adult 1.17×10-15
abnormal urinary bladder morphology AU021092tm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Epididymis  Section images heterozygote 100% (1 of 1)
Esophagus  Section images heterozygote 33.33% (1 of 3)
Kidney  Section images heterozygote 66.67% (2 of 3)
Prostate gland  Section images heterozygote 66.67% (2 of 3)
Testis  Section images heterozygote 66.67% (2 of 3)
Thyroid gland  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 100% (1 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote 0.0% (0 of 3)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cecum N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote 0.0% (0 of 3)
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Duodenum N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 1)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 3)
Hypothalamus N/A heterozygote 0.0% (0 of 3)
Ileum N/A heterozygote 0.0% (0 of 1)
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 1)
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 1)
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 33.33% (1 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote 0.0% (0 of 3)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 3)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 3)
Vesicular gland N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 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.

Adult LacZ

LacZ Images Section

12 Images

Human diseases caused by AU021092 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 AU021092 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Hyperactivity, Atrial septal defect DECIPHER:39
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Organic aciduria ORPHA:35
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... OMIM:600649
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... OMIM:212140
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:232700
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Ketotic hypoglycemia, Pulmonic stenosis, Elevated ... ORPHA:79159
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal... OMIM:255120
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Elevated circulating creatinine concentration, Stage 5 chro... OMIM:613095
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration OMIM:615026
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Aminoaciduria, Splenomegaly, Hyperammonemia ORPHA:664
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Endocardial Fibroelastosis
Endocardial fibroelastosis, Hypoplasia of penis, Hypoglycemia, Restrictive cardiomyopathy ORPHA:2022
Dicarboxylic Aminoaciduria
Aminoaciduria, Fasting hypoglycemia, Nephrolithiasis, Aspartic aciduria OMIM:222730
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Elevated circulating creatine kinase concentration, Cardiomegal... OMIM:617713
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, Elevated circulati... OMIM:616733
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly OMIM:618838
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hypoglycemia, Hyperinsulinemia OMIM:606528
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Aciduria OMIM:617950
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Atrial septal defect, Elevated circulating sebacic... OMIM:615160
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent ... OMIM:601005
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy ORPHA:85447
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hepatomegaly OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Ventricular hypertrophy, Hyperalanin... OMIM:619048
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Microscop... ORPHA:567544
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Preeclampsia
Elevated circulating creatinine concentration, Acute kidney injury, Type I diabetes mellitus, Chr... ORPHA:275555
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperam... OMIM:618120
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Hepatomegaly, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabet... OMIM:616026
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... OMIM:201475
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Organic aciduria, Hyperammonemia ORPHA:6
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Hypoglycemia, Lacticaciduria, Elevated circulating ... OMIM:619386
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... ORPHA:79233
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase concentration, V... OMIM:232400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Dic... ORPHA:42
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Polyuria, Renal insufficiency, Stage 5 chronic kid... OMIM:619468
Hemochromatosis, Type 1
Increased serum iron, Hepatomegaly, Glucose intolerance, Cardiomegaly, Cardiomyopathy, Splenomega... OMIM:235200
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis, Elevated circul... OMIM:607665
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Lethargy OMIM:619064
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine... ORPHA:439232
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252920
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Myoglobinuria, Tubulointerstitial nephritis, Decreased plas... ORPHA:228308
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia OMIM:619051
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Cardiomyopathy, Increased urine alpha-ketoglutara... ORPHA:2394
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalaninemia, Increased serum pyr... OMIM:266150
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Ventricular septal defect OMIM:618504
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Attention deficit hyperactivity disorder, Abnormal cardiac septum mo... OMIM:614294
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid OMIM:266500
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Morm Syndrome
Hyperactivity ORPHA:75858
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Abnormal concentration of acylcarnitine in the urine, ... ORPHA:391428
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612926
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Elevated circulating creati... OMIM:614376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Decreased plasma free... OMIM:608836
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cys... ORPHA:730
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Spl... OMIM:256550
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait disturbance, Cardiomegaly, Cardiomyopathy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxi... OMIM:619259
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Long penis, Insulin-resistant diabetes mellitus, Hyperglycemi... OMIM:262190
Coffin-Siris Syndrome 7
Hyperactivity, Abnormal heart morphology, Abnormal cardiac septum morphology OMIM:618027
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Elevated circulating creatinine... OMIM:617478
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, Decreased glomerular filt... OMIM:174000
Oligomeganephronia
Bilateral renal hypoplasia, Abnormality of medullary pyramid morphology, Decreased glomerular fil... ORPHA:2260
Infantile Liver Failure Syndrome 2
Hypoglycemia, Cardiomyopathy, Hyperammonemia OMIM:616483
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Maturity-onset diabetes of the young, Elevated circulating creatin... OMIM:137920
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy, Neonatal hypoglycemia OMIM:261740
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:618652
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hyperl... ORPHA:156
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Ventricular hyper... OMIM:212138
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Steppage gait, Cardiomegaly, Inability to walk, Abnormal atrioventricular ... ORPHA:324410
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Abnormal heart morphology, Attention deficit hyperactivity disorder, Atrial septal... ORPHA:352490
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Atrial septal defect, Pulmonic stenosis OMIM:619239
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Hypoglycemia, Hyperglutaminemia, Elevated circulating creatine kinase conc... OMIM:619355
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Abnormality of iron homeostasis, Hyperglycemia, Cardiomegaly, Elevated transferrin ... ORPHA:465508
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Hyperammonemia, Increased level of hippuric acid i... OMIM:246450
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Impaired gluconeogenesis, Low plasma citrulline... OMIM:261680
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hyperchole... ORPHA:79237
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephrotic sy... ORPHA:85450
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Fragile X Syndrome
Hyperactivity, Mitral valve prolapse OMIM:300624
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... ORPHA:411634
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Increased circulating galectin-3 level, Abnormal B-type na... ORPHA:57777
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Mitral atresia, Double outlet right ve... OMIM:306955
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Medium chain dicarboxylic aciduria, Hyperglycinuria, Decreased plasma... OMIM:201450
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hypertriglyceridemia OMIM:613027
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Dysplastic pulmonary valve, Broad-based gait OMIM:300958
Beck-Fahrner Syndrome
Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly OMIM:618798
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Hypoglycemia, El... OMIM:614921
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly... OMIM:616897
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Hypo... OMIM:276700
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Gand Syndrome
Hyperactivity OMIM:615074
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Relapsing Fever
Hematuria, Elevated circulating creatinine concentration, Increased total bilirubin, Acute kidney... ORPHA:91547
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Glomerular sclerosis, Cardiomyopathy, Nephropathy,... ORPHA:247691
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Sickle Cell Anemia
Hepatomegaly, Hematuria, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Cardiomegaly, Overriding aorta OMIM:617022
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Hypoglycemia, Ketonuria OMIM:615751
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Hypotriglyceridemia, Decreased ser... OMIM:618885
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Pollakisuria, Right ventricular hypertrophy, ... ORPHA:268
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated circulating creatinine ... ORPHA:542323
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Dicarboxylic aciduria OMIM:611126
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephrocalcinosis, Cardiomegaly, Nephr... OMIM:130650
Myopathy With Extrapyramidal Signs
Dystonia, Ventricular septal defect, Hepatomegaly, Splenomegaly, Hyperactivity, Ataxia, Difficult... OMIM:615673
Mend Syndrome
Hyperactivity, Aortic valve stenosis OMIM:300960
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:308552
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:36234
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... ORPHA:363705
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Hyperactivity, Atrial septal defe... ORPHA:485405
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Tetralogy of Fallot ORPHA:3306
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Subvalvular aortic stenosis OMIM:600430
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... OMIM:232200
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252930
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Mitral valve prolapse, Cardiomegaly, Pulmonic stenosis, ... OMIM:602782
Potocki-Lupski Syndrome
Hyperactivity, Atrial septal defect, Patent foramen ovale OMIM:610883
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Hyperactivity, Ataxia, Patent foramen ovale ORPHA:369891
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... OMIM:232220
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Fucosidosis
Oligosacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Bicarbonate-wasting ... ORPHA:3337
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Mogs-Cdg
Dystonia, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial se... ORPHA:79330
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252940
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Akinesia OMIM:608013
Histidinemia
Hyperactivity ORPHA:2157
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Cardiomegaly, Hepatomegaly OMIM:618278
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Developmental And Epileptic Encephalopathy 95
Gait disturbance, Hepatomegaly, Cardiomegaly, Ataxia, Inability to walk OMIM:618143
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Hyperactivit... ORPHA:2209
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Splenomegaly, Inc... OMIM:252500
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal heart morphology OMIM:615873
Fructose Intolerance, Hereditary
Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hyp... OMIM:229600
Marburg Hemorrhagic Fever
Hyperamylasemia, Pericarditis, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase co... ORPHA:99826
Biliary, Renal, Neurologic, And Skeletal Syndrome
Splenomegaly, Increased circulating ferritin concentration, Medullary nephrocalcinosis, Conjugate... OMIM:619534
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst ORPHA:137675
Glycogen Storage Disease Ic
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hematuria, Decrea... OMIM:232240
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Ureteral duplication, Hypoglycemia, Congenital megaure... ORPHA:116
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating ... ORPHA:14
Mucopolysaccharidosis Type 3
Gait disturbance, Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morpholog... ORPHA:581
Brain-Lung-Thyroid Syndrome
Dystonia, Ventricular septal defect, Falls, Hyperactivity, Ataxia, Atrial septal defect, Abnormal... ORPHA:209905
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Anuria, De... ORPHA:340
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Mitral valve prolapse ORPHA:449291
Stankiewicz-Isidor Syndrome
Hyperactivity, Ventricular septal defect, Truncus arteriosus OMIM:617516
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Ventricular septal defect, Atrial septal defect OMIM:309520
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly ORPHA:96191
Truncus Arteriosus
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... ORPHA:3384
Legius Syndrome
Dystonia, Mitral valve prolapse, Pulmonic stenosis, Hyperactivity, Attention deficit hyperactivit... ORPHA:137605
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Right ventricular hyper... OMIM:300967
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:365
Yellow Fever
Anuria, Elevated circulating creatine kinase concentration, Elevated circulating creatinine conce... ORPHA:99829
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Visceral Steatosis, Congenital
Myocardial steatosis, Hypoglycemia, Hypocalcemia OMIM:228100
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly, Diabetes mellitus ORPHA:51
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention ORPHA:97297
Williams Syndrome
Bicuspid aortic valve, Overriding aorta, Hypercalciuria, Hypertrophic cardiomyopathy, Hypercalcem... ORPHA:904
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Impaired glucose tolerance, Cardiomegaly, ... OMIM:256040
Argininemia
Hyperactivity, Spastic gait, Hepatomegaly OMIM:207800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Hyperactivity, Atrial ... OMIM:607721
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria, Elevated circulating C-react... ORPHA:91500
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal mitral valve morphology, Abnormal heart morphology, Abnormal tricuspid val... ORPHA:580
Distal Trisomy 17Q
Hyperactivity, Abnormal heart morphology ORPHA:3379
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Hyperactivity, Atrial septal defect OMIM:600268
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Coffin-Siris Syndrome
Ventricular septal defect, Abnormal heart morphology, Hyperactivity, Atrial septal defect, Tetral... ORPHA:1465
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Renovascular hypertension, Cardiomegaly, Cardiomyopathy, ... ORPHA:3472
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Myocardial calcification, Pericardial effusion, Nephrocalcinosis, Ventricular ... ORPHA:51608
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Mend Syndrome
Hyperactivity, Abnormal heart morphology, Aortic valve stenosis ORPHA:401973
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Waddling gait, Aortic valv... OMIM:182250
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Early Infantile Epileptic Encephalopathy
Hyperactivity, Dystonia, Ventricular septal defect, Episodic ataxia ORPHA:1934
Choreoacanthocytosis
Dilated cardiomyopathy, Hepatomegaly, Lingual dystonia, Loss of ambulation, Oromandibular dystoni... ORPHA:2388

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 AU021092

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 AU021092.

No publications found that use IMPC mice or data for AU021092.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
AU021092tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
AU021092tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
AU021092tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter