Gene: Kcnh3 MGI:1341723

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Gene Summary

Name:
potassium voltage-gated channel, subfamily H (eag-related), member 3
Synonyms:
ether a go-go like,  Elk2,  Melk2,  C030044P22Rik

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
increased circulating free fatty acids level Kcnh3tm1.1(KOMP)Vlcg HET Early adult 5.11×10-05
improved glucose tolerance Kcnh3tm1.1(KOMP)Vlcg HOM Early adult 2.72×10-05
increased hemoglobin content Kcnh3tm1.1(KOMP)Vlcg HOM Early adult 5.72×10-05
hyperactivity Kcnh3tm1.1(KOMP)Vlcg HOM Early adult 3.78×10-05
increased fasting circulating glucose level Kcnh3tm1.1(KOMP)Vlcg HOM Early adult 1.03×10-05

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
Brainstem  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Cerebral cortex  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Main olfactory bulb  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Epididymis 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)
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)
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)
Quadriceps 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)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 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)
Urinary bladder 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)
Vesicular gland N/A heterozygote 0.0% (0 of 1)
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
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 1)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 2)
N/A homozygote 0.0% (0 of 1)

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)
bone 0.0%
bone marrow 0.0%
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)
main olfactory bulb 0.0%
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)
quadriceps 0.0%
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 Skull Lateral Orientation

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

33 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

33 Images

X-ray

XRay Images Forepaw

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

Adult LacZ

LacZ Images Section

11 Images

Combined SHIRPA and Dysmorphology

Images

7 Images

Electroretinography

Rod waveform (pdf format)

7 Images

Electroretinography

Cone waveform (pdf format)

7 Images

Human diseases caused by Kcnh3 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 Kcnh3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoclonic Epilepsy, Progressive
Generalized myoclonic seizure OMIM:310370
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Mental Retardation, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Specific Language Impairment 2
Deficit in phonologic short-term memory OMIM:606712
Specific Language Impairment 1
Deficit in phonologic short-term memory OMIM:606711
Epilepsy, Benign Occipital
Seizure, EEG abnormality OMIM:132090
Epilepsy, Reading
Seizure, EEG abnormality OMIM:132300
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:607631
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:600669
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Epilepsy, Myoclonic Juvenile
EEG with generalized polyspikes, Bilateral tonic-clonic seizure, Status epilepticus, Generalized ... OMIM:254770
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... OMIM:607682
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, Visua... OMIM:615369
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Myoclonic seizure, Myoclonic absence seizure, Atypical absenc... OMIM:618596
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... OMIM:607681
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic... OMIM:609446
Developmental And Epileptic Encephalopathy 57
Seizure, Hypsarrhythmia, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-mo... ORPHA:139426
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:616056
Alg12-Cdg
Cognitive impairment ORPHA:79324
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes,... OMIM:254800
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Normal interictal EEG... ORPHA:306
Continuous Spikes And Waves During Sleep
EEG with generalized polyspikes, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, ... ORPHA:725
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal im... OMIM:614417
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Seizures, Benign Familial Infantile, 2
Focal-onset seizure, Generalized-onset seizure OMIM:605751
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Seizure, Generalized non-motor (absence) seizure, EEG abnormality, Generalized my... OMIM:618141
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized-ons... ORPHA:79137
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, EEG abnormality, Generalized-onset ... OMIM:615476
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral t... OMIM:618587
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, EEG abnormality OMIM:300801
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Myo... OMIM:619000
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Familial Adult Myoclonic, 1
EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory evoked pot... OMIM:601068
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Seizure, G... OMIM:619157
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Landau-Kleffner Syndrome
Generalized clonic seizure, EEG with frontal focal spikes, EEG with temporal focal spikes, Interi... ORPHA:98818
Nodular Neuronal Heterotopia
Seizure, EEG abnormality ORPHA:2149
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, EEG with generalized epilepti... ORPHA:35878
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Benign Occipital Epilepsy
Focal impaired awareness seizure, EEG with occipital focal spike waves ORPHA:25968
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:616421
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, EEG abnormality, Myoclonus, Generalized-onset seizure ORPHA:86814
Epilepsy, Progressive Myoclonic, 6
Seizure, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Atonic seizure, Focal-onset seizure, EEG with burst suppression, Bilateral tonic-... ORPHA:3006
Carnosinase Deficiency
EEG abnormality, Generalized myoclonic seizure ORPHA:1361
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
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes, Ato... ORPHA:36387
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:601764
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, EEG abnormality, Generalized myoclonic seizure OMIM:617831
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Bilateral tonic-clonic seizure, Inte... ORPHA:101046
Developmental Delay And Seizures With Or Without Movement Abnormalities
EEG abnormality, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic... OMIM:617836
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Focal he... OMIM:617350
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Developmental And Epileptic Encephalopathy 6B
EEG with spike-wave complexes (>3.5 Hz), Focal-onset seizure, Myoclonic absence seizure, Bilatera... OMIM:619317
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:607745
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Generalized-onset seizure, Hypsarrhythmia OMIM:613722
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex, Myoclonus, Jerk-locked prem... OMIM:615127
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Normal interictal EEG, Generalized-onset seizure OMIM:602066
Dravet Syndrome
Generalized clonic seizure, Complex febrile seizure, Febrile seizure (within the age range of 3 m... ORPHA:33069
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Ceroid Lipofuscinosis, Neuronal, 6
Seizure, Abnormal nervous system electrophysiology OMIM:601780
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Hypsarrhythmia, EEG with focal epileptiform discharges, Focal-onset s... ORPHA:98820
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Benign Familial Neonatal Epilepsy
Focal EEG discharges with secondary generalization, Generalized tonic seizure, Focal-onset seizur... ORPHA:1949
Polymicrogyria, Bilateral Temporooccipital
Seizure, Status epilepticus, Focal impaired awareness seizure OMIM:612691
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Atonic seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:2590
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Myoclonic-Astatic Epilepsy
Atonic seizure, Focal-onset seizure, EEG with generalized slow activity, Interictal epileptiform ... ORPHA:1942
Epilepsy, Progressive Myoclonic, 8
Cognitive impairment, Dementia OMIM:616230
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Hypsarrhythmia, Atonic seizure, Multifocal epileptiform discharges, Ge... ORPHA:411986
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, Typical absence s... ORPHA:101070
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Generalized... OMIM:300912
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:178469
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Isolated Focal Cortical Dysplasia
Focal-onset seizure, Seizure, Infantile spasms, Focal impaired awareness seizure, Bilateral tonic... ORPHA:65683
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonu... ORPHA:208447
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with phot... ORPHA:168491
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, EE... ORPHA:268947
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized non-motor (absence) seizure, Sei... ORPHA:485350
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Hypsarrhythmia,... ORPHA:501
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-... ORPHA:98795
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, EEG with spike-wave complexes, Atypical absence seizure, Hypsarrhythmi... ORPHA:95232
Mental Retardation, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... ORPHA:64280
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Infantile Convulsions And Choreoathetosis
Experiential epileptic aura, Focal-onset seizure, Seizure, Focal impaired awareness seizure, Norm... ORPHA:31709
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Seizure precipitated by febrile infection, Interictal EEG abnormal... ORPHA:363558
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Rasmussen Subacute Encephalitis
Generalized tonic seizure, EEG with focal epileptiform discharges, Focal-onset seizure, Generaliz... ORPHA:1929
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:613839
Mental Retardation, Autosomal Recessive 57
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Seizure, Gene... OMIM:617188
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... OMIM:254780
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Generalized tonic seizure, Focal impaired awareness seizure ORPHA:163985
Syngap1-Related Developmental And Epileptic Encephalopathy
Eating-induced seizure, Myoclonic absence seizure, Generalized-onset seizure ORPHA:544254
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Nicolaides-Baraitser Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm ORPHA:3051
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Hemochromatosis, Type 4
Impaired glucose tolerance, Glucose intolerance, Anemia OMIM:606069
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Mildly elevated c... ORPHA:71212
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Diabetic ketoacidosis, ... ORPHA:99886
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Gener... ORPHA:457351
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Hypsarrhythmia, Focal-onset seizure, Seizu... OMIM:619229
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Attention deficit hyperactivity disorder ORPHA:369873
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Athetosis, Glycosuria OMIM:618857
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Atonic seizure, Bilateral tonic-clonic seizure, Generalize... ORPHA:79351
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... ORPHA:395
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... ORPHA:72
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... ORPHA:435638
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Lethargy, Glycosuria ORPHA:2089
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Tonic seizure OMIM:300260
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Kleefstra Syndrome Due To 9Q34 Microdeletion
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm ORPHA:96147
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized tonic seizure, EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Multifo... ORPHA:369837
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Focal emotional seizure with laughing, Atonic seizure, Focal tonic seizure, Generalized non-motor... ORPHA:404454
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Macrocytic anemia OMIM:614294
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615802
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure ORPHA:258
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hyperactivity OMIM:614613
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Hypoglycemia, Insulin resistance ORPHA:73272
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Tay-Sachs Disease
Seizure, Myoclonus, Typical absence seizure, Focal impaired awareness seizure ORPHA:845
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Necrotizing Enterocolitis
Lethargy, Leukocytosis, Neutropenia, Thrombocytopenia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... ORPHA:760
Kinsship Syndrome
Generalized non-motor (absence) seizure, Myoclonus, Focal-onset seizure, Bilateral tonic-clonic s... OMIM:619297
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Anemia, Hypoglycemia OMIM:609069
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Simple febrile seizure, Typical absence seizure, Bilateral tonic-clonic seizure ORPHA:466950
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Neonatal hypoglycemia, Hyperactivity ORPHA:457485
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... ORPHA:268261
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Epileptic spasm ORPHA:2636
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Diabetes mellitus, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Seizure, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Seizure, Typical absence seizure ORPHA:352665
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity ORPHA:391307
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly OMIM:252900
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Attention deficit hyperactivity diso... ORPHA:330015
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Histidinemia
Hyperactivity ORPHA:2157
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly OMIM:252920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:500150
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Niemann-Pick Disease Type B
Generalized non-motor (absence) seizure ORPHA:77293
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity, Acantho... OMIM:234200
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Sotos Syndrome
Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal impaired ... ORPHA:821
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Hyperactivity OMIM:251260
Mowat-Wilson Syndrome
EEG with spike-wave complexes, Focal-onset seizure, EEG with generalized slow activity, Seizure, ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Seizure, Focal-onset seizure, EEG abnormality, Atypical absence seizure ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Seizure, Focal-onset seizure, EEG abnormality, Atypical absence seizure ORPHA:261552
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388
Acrodysostosis With Multiple Hormone Resistance
Diabetes mellitus, Hyperactivity ORPHA:280651
Alström Syndrome
Typical absence seizure ORPHA:64

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 Kcnh3

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 Kcnh3.

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) Kcnh3tm1.1(KOMP)Vlcg PMC5503261

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MGI Allele Allele Type Produced
Kcnh3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Kcnh3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Kcnh3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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