Gene Summary

Name:
calcium channel, voltage-dependent, alpha2/delta subunit 3
Synonyms:
alpha 2 delta-3,  alpha2delta3

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
decreased circulating glucose level Cacna2d3tm1b(KOMP)Wtsi HET   Early adult 6.84×10-06
increased circulating sodium level Cacna2d3tm1b(KOMP)Wtsi HET Early adult 6.83×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 50% (1 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland 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)
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)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
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)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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 Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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

19 Images

X-ray

XRay Images Forepaw

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Adult LacZ

LacZ Images Section

15 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Sleep Wake

Wake state (bmp file)

3 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

2 Images

Electroretinography 2

Rod and cone PDF

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

1 Images

Human diseases caused by Cacna2d3 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 Cacna2d3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Hyperactivity OMIM:309548
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
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Immunodeficiency 8
Hyperactivity OMIM:615401
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hyponatremia, Neonatal hypoglycemia ORPHA:199296
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-gl... ORPHA:3008
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Irritability, Abnormal fear/anxiet... ORPHA:3077
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glycine Encephalopathy
Lethargy, Irritability, Aggressive behavior, Hyperactivity OMIM:605899
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Sotos Syndrome 3
Hyperactivity OMIM:617169
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hyperactivity OMIM:615924
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hyperactivity OMIM:604317
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritability, Hyperac... ORPHA:248111
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Phenylketonuria
Self-mutilation, Aggressive behavior, Irritability, Anxiety, Hyperactivity, Attention deficit hyp... OMIM:261600
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Fraxe Intellectual Disability
Aggressive behavior, Hyperactivity ORPHA:100973
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Diabetes mellitus, Hyponatremia, Hyperuricemia OMIM:613845
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Mental Retardation, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Lennox-Gastaut Syndrome
Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Self-injurious behavior, Tremor, Hyperactivity OMIM:618718
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... ORPHA:228360
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Necrotizing Enterocolitis
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis ORPHA:391673
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... OMIM:231100
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Anxiety, Abnormal fear/anxiety-related behavior, Exaggerated startle response ORPHA:309246
Cholera
Hypocalcemia, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia ORPHA:173
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Emotional lability, Anxiety, Hyperactivity, Steppage gait, Atte... ORPHA:98818
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Hartsfield Syndrome
Hypernatremia OMIM:615465
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Familial Glucocorticoid Deficiency
Hyperkalemia, Ketotic hypoglycemia, Hyponatremia, Hypoglycemic seizures ORPHA:361
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Happy demeanor ORPHA:411515
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Mpi-Cdg
Hypoglycemia ORPHA:79319
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperuricemia, Hyperlipidemia ORPHA:364
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia ORPHA:90790
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, ... ORPHA:1667
Snakebite Envenomation
Hyponatremia ORPHA:449285
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:617053
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hypoglycemia, Type I diabetes mellitus, Hypercalcemia ORPHA:199299
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Increased circulating renin level ORPHA:90791
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Oculogyric crisis, Irritab... OMIM:608643
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Aggressive behavior, Hyperactivity ORPHA:101039
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Hyperactivity ORPHA:500180
Whipple Disease
Hyponatremia, Insulin resistance ORPHA:3452
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypoglycemia, Hypercalcemia, Hype... ORPHA:95409
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia, Hyponatremia ORPHA:293978
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Clcn4-Related X-Linked Intellectual Disability Syndrome
Aggressive behavior, Self-injurious behavior, Progressive cerebellar ataxia, Unsteady gait, Anxie... ORPHA:485350
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit... ORPHA:1942
Pituitary Apoplexy
Hyponatremia, Hypoglycemia ORPHA:95613
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypoglycemia, Hypercalcemia, Type... ORPHA:85138
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Infant Botulism
Hyponatremia ORPHA:178478
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Hyperactivity, Mood swings OMIM:300354
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Aggressive behavior, Opisthotonus, Hyperactivity... OMIM:103050
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Exaggerated startle response OMIM:272750
Shigellosis
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration ORPHA:810
Legionnaires Disease
Hyponatremia ORPHA:549
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Intention tremor, Bradykinesia, Emotional lability, Dy... OMIM:610217
Sheehan Syndrome
Hyponatremia, Hypoglycemia ORPHA:91355
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Hypokalemia, Hypercalcemia, Hypoalbuminemia, Type... ORPHA:88673
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Gand Syndrome
Hyperactivity OMIM:615074
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:168558
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Agoraphobia, Anxiety OMIM:184850
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Hypoglycemia OMIM:617049
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... ORPHA:289548
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia, Happy demeanor OMIM:614104
Holoprosencephaly
Diabetes mellitus, Hyponatremia, Hypoglycemia ORPHA:2162
Adenohypophysitis
Hyponatremia ORPHA:95512
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia OMIM:618838
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, Attention def... ORPHA:449291
Panhypophysitis
Hyponatremia ORPHA:95513
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperammonemia, Hyperalaninemia, Hypoglycemia OMIM:615751
Familial Dysautonomia
Hyponatremia ORPHA:1764
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Japanese Encephalitis
Hyponatremia ORPHA:79139
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Hyperactivity ORPHA:35069
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Diabetes mellitus, Hyponatremia ORPHA:544482
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia, Glycosuria, Diabetes mellitus OMIM:219800
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Fragile X Syndrome
Hyperactivity OMIM:300624
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Histidinemia
Hyperactivity ORPHA:2157
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hypokalemia ORPHA:534
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Laryngeal dystonia, Exaggerated startle re... ORPHA:845
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyponatremia, Hyperlipidemia ORPHA:293987
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Angelman Syndrome
Inability to walk, Tremor, Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperac... ORPHA:72
Citrullinemia Type Ii
Tremor, Lethargy, Aggressive behavior, Irritability, Hyperactivity ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Irritability, Mood swings ORPHA:525731
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:85293
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Angelman Syndrome
Progressive gait ataxia, Limb tremor, Broad-based gait, Hyperactivity OMIM:105830
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Hyperactivity ORPHA:363686
Choreoacanthocytosis
Hair-pulling, Aggressive behavior, Apathy, Self-injurious behavior, Resting tremor, Blepharospasm... ORPHA:2388
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Hyperlysinemia
Tremor, Opisthotonus, Dysmetria, Hyperactivity, Tip-toe gait ORPHA:2203
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Brain-Lung-Thyroid Syndrome
Dystonia, Ataxia, Falls, Intention tremor, Hyperactivity ORPHA:209905
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Wiedemann-Steiner Syndrome
Anxiety, Low frustration tolerance, Aggressive behavior, Hyperactivity ORPHA:319182
Early Infantile Epileptic Encephalopathy
Tremor, Episodic ataxia, Dystonia, Self-injurious behavior, Hyperactivity ORPHA:1934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Tuberous Sclerosis Complex
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperactivity, Attention deficit hyperacti... ORPHA:805
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Hyperactivity ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Exaggerated startle response, Broad-based gait ORPHA:438213

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 Cacna2d3

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 Cacna2d3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Cacna2d3tm1b(KOMP)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Cacna2d3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cacna2d3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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