Gene Summary

Name:
WD repeat and SOCS box-containing 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased vertical activity Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 4.09×10-08
decreased total retina thickness Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 1.08×10-43
decreased respiratory quotient Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 2.12×10-10
abnormal tooth morphology Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 3.49×10-12
female infertility Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal retina vasculature morphology Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 2.62×10-08
hyperactivity Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 2.82×10-07
increased grip strength Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 2.30×10-12
decreased locomotor activity Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 7.98×10-05
abnormal retina blood vessel morphology Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 1.05×10-07
decreased food intake Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 6.01×10-09
increased circulating alkaline phosphatase level Wsb2tm1b(EUCOMM)Hmgu HOM   Early adult 2.45×10-08
decreased heart rate Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 3.16×10-06
decreased cardiac muscle contractility Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 4.52×10-05

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
Brain  Wholemount images heterozygote 100% (2 of 2)
Chest bone  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Urinary bladder  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood 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)
Brainstem 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)
Cecum 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)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb 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)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle 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 pyloric region N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland 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)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens 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)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.74% (4 of 537)
aorta 0.19% (1 of 528)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.91% (5 of 547)
brainstem 0.37% (2 of 539)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 529)
cecum 5.11% (18 of 352)
cerebellum 0.37% (2 of 542)
cerebral cortex 0.37% (2 of 535)
chest bone Unavailable
colon 14.96% (19 of 127)
cranium
diaphragm 0.0%
epididymis 13.64% (18 of 132)
esophagus 1.63% (6 of 367)
eye 0.0%
gall bladder 0.0%
harderian gland 0.78% (1 of 128)
heart 0.37% (2 of 546)
hindlimb 0.0%
hippocampus 0.56% (3 of 532)
hypothalamus 0.37% (2 of 535)
kidney 4.3% (23 of 535)
large intestine 5.08% (27 of 532)
liver 0.0%
lower urinary tract 0.19% (1 of 532)
lung 0.37% (2 of 547)
lymph node 0.18% (1 of 544)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.35% (1 of 285)
olfactory lobe 0.37% (2 of 537)
oral epithelium 0.0%
ovary 0.19% (1 of 539)
oviduct 0.0%
pancreas 0.96% (5 of 522)
parathyroid gland 0.2% (1 of 508)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.19% (1 of 520)
peyers patch 0.0%
pituitary gland 0.19% (1 of 529)
prostate gland 2.23% (12 of 539)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 544)
small intestine 5.69% (31 of 545)
spinal cord 0.56% (3 of 534)
spleen 0.56% (3 of 531)
stomach 3.72% (20 of 537)
stomach pyloric region 0.0%
striatum 0.37% (2 of 535)
sublingual gland 0.0%
submandibular gland 1.54% (2 of 130)
testis 0.95% (5 of 524)
thymus 0.19% (1 of 535)
thyroid gland 3.22% (17 of 528)
tongue 3.97% (5 of 126)
trachea 0.55% (3 of 544)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.38% (2 of 527)
vagina 0.0%
vas deferens 4.26% (15 of 352)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Electrocardiogram (ECG)

Waveform Image

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Wsb2 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 Wsb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... OMIM:617182
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia OMIM:617173
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Paroxysmal Extreme Pain Disorder
Mandibular pain, Tachycardia, Bradycardia OMIM:167400
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Gait disturbance, Hypogonadism, Dysphagia, Cardiomyopathy, Premature ovarian insuffic... OMIM:609286
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy, Macroglossia, Bradycardia ORPHA:95717
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Micrognathia, Bradycardia OMIM:614498
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... OMIM:616201
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long philtrum, Truncal ataxia, Bradycardia, Acrocyanosis, Atrioventricular block, Thick lower lip... OMIM:614407
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Macu... ORPHA:891
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Sick sinus syndrome, Prolonged PR in... ORPHA:542306
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Intellectual Developmental Disorder, X-Linked 104
High palate, Ataxia, Hyperactivity, Retrognathia, Optic atrophy OMIM:300983
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Bradycardia, Decreased plasma free carnitine, Congestive heart failure OMIM:619048
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Amenorrhea, Hypogonadotropic hypogonad... OMIM:602390
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Pulmonary arterial hypertension, Bradycardia OMIM:616299
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Micrognathia, Third degree atrioventricular block, Abnormal ret... ORPHA:40366
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Tetanus
Elevated circulating creatine kinase concentration, Tachycardia, Dysphagia, Hypertension, Trismus... ORPHA:3299
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Familial Thyroid Dyshormonogenesis
Macroglossia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Lethargy, Br... ORPHA:95716
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Timothy Syndrome
Hypocalcemia, Microdontia, Thin upper lip vermilion, Prolonged QT interval, Bradycardia OMIM:601005
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy, Congestive heart fai... OMIM:617222
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... OMIM:614022
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachycardia, Hypotension, Hypoxemia, Cardiac arrest, Bradycardia ORPHA:70587
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Short philtrum, Hyperactivity OMIM:300928
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy, Microdontia, Carious teeth, ... ORPHA:1897
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hyperactivity, Lethargy OMIM:274270
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Dilated, 1D
Increased circulating brain natriuretic peptide concentration, Sudden cardiac death, Increased le... OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Loss of ambulation, Palpitations, Elevated circulating creatine kinase concentration, Syncope, Di... OMIM:616812
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... ORPHA:2791
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Glutamine Deficiency, Congenital
Thin vermilion border, Hypoglutaminemia, Bradycardia, Hyperammonemia OMIM:610015
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity OMIM:619470
Hyperinsulinism Due To Ucp2 Deficiency
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Polyphagia, Hypertrophic cardiomyo... ORPHA:276556
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Narrow palate, Hyperactivity, Retrognathia, Micrognathia, Cario... OMIM:613684
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Tip-toe gait, Optic disc pallor, Open mouth, Bradycardia ORPHA:565624
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Loss of ambulation, Elevated circulating creatine kinase concentration, Prema... OMIM:619518
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, Hy... OMIM:618775
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Illum Syndrome
Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia OMIM:208155
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Polyphagia, Hypertrophic cardiomyo... ORPHA:276575
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Glossopharyngeal Neuralgia
Mandibular pain, Oral-pharyngeal dysphagia, Syncope, Tongue pain, Abnormal palate morphology, Jaw... ORPHA:221098
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Lethargy OMIM:605899
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Hyperactivity, E... OMIM:618342
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congesti... OMIM:261740
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Wide mouth, Ataxia, Hyperactivity, Polyphagia, Mandibular prognathia ORPHA:411515
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Abnormal circulating thyroglobulin level, Attention deficit hyperactivity disorder,... ORPHA:90674
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Polyphagia, Hypertrophic cardiomyo... ORPHA:276580
Classic Galactosemia
Gait imbalance, Ataxia, Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Gait ... ORPHA:79239
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Lethargy, B... ORPHA:90673
Necrotizing Enterocolitis
Hypotension, Shock, Hyponatremia, Lethargy, Bradycardia ORPHA:391673
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Hyperinsulinism Due To Hnf1A Deficiency
Increased C-peptide level, Palpitations, Tachycardia, Syncope, Polyphagia, Lethargy, Decreased ci... ORPHA:324575
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Tachycardia, Hypertriglyceridemia, Dysphagia,... OMIM:613327
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Optic nerve hypoplasia, Bradycardia OMIM:220120
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Pu... ORPHA:94093
Optic Atrophy 11
Optic atrophy, Ataxia, Hyperactivity, Dysmetria OMIM:617302
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Aapoaiv Amyloidosis
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... ORPHA:439232
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Bradycardia OMIM:608800
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Everted lower lip vermilion, Downturned corners of mouth, Widely... OMIM:617865
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Lethargy, Bradycardia OMIM:617397
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Proximal Spinal Muscular Atrophy
Inability to walk, Difficulty walking, Dysphagia, Tongue fasciculations, Bradycardia ORPHA:70
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Gait ataxia ORPHA:248111
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Intellectual Disability, Birk-Barel Type
Hyperactivity, High, narrow palate, Micrognathia, Short philtrum, Broad philtrum, Dysphagia, Tent... ORPHA:166108
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ... ORPHA:261529
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Tachycardia, Retinal hemorrhage, Open mouth, Hypertension, Bradycardia OMIM:614653
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Micrognathia, Short philtrum, Retinal neovascularization, Cleft palate OMIM:619074
Sheehan Syndrome
Amenorrhea, Impotence, Dyspareunia, Orthostatic hypotension, Palpitations, Oligomenorrhea, Bradyc... ORPHA:91355
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of dental color, Amelogenesis imp... ORPHA:1873
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Bohring-Opitz Syndrome
Inability to walk, Cleft palate, Retrognathia, Micrognathia, Optic atrophy, Cleft lip, Prominent ... ORPHA:97297
Andersen-Tawil Syndrome
High palate, Abnormality of the dentition, Bidirectional ventricular ectopy, Hypoplasia of the ma... ORPHA:37553
Familial Male-Limited Precocious Puberty
Oligospermia, Attention deficit hyperactivity disorder, Male infertility ORPHA:3000
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Hyperactivity, Malar flattening, Abnormality of the dentition, Reti... OMIM:182290
2Q23.1 Microdeletion Syndrome
Ataxia, Hyperactivity, Malar flattening, Everted lower lip vermilion, Macrodontia, Polyphagia, Te... ORPHA:228402
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch block, Elevat... ORPHA:99827
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Hyperlysinemia, Hypervalinemia, Hyperactivity, Elevat... OMIM:615673
Potocki-Lupski Syndrome
High palate, Wide mouth, Dental malocclusion, Hyperactivity, Micrognathia, Hypocholesterolemia, D... OMIM:610883
Usher Syndrome
Ataxia, Abnormality of retinal pigmentation, Microdontia, Carious teeth, Abnormal cardiovascular ... ORPHA:886
Primary Ciliary Dyskinesia
Female infertility, Rod-cone dystrophy, Male infertility, Chronic sinusitis, Abnormal sperm motility ORPHA:244
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Cyanosis, Tachycardia, Hypotension, Bradyc... ORPHA:90051
Marburg Hemorrhagic Fever
Hypokalemia, Orchitis, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentr... ORPHA:99826
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Intellectual Developmental Disorder, Autosomal Recessive 38
Mandibular prognathia, Narrow palate, Hyperactivity, Unsteady gait OMIM:615516
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Retinal ne... ORPHA:247691
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Micrognathia, Optic atrophy, Thick vermilion border ORPHA:530983
47,Xyy Syndrome
Congenital stationary night blindness, Hyperactivity, Malar flattening, Oligospermia, Male infert... ORPHA:8
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Hypotension, Myocarditis, Shock, Subconjun... ORPHA:319213
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Right bundle branch block, Atrial fibrillation, Atrio... OMIM:614954
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Choreoathetosis, Hyperactivity, Ataxia OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Thick vermilion border, Hyperactivity, Bradykinesia, Attention deficit hyperactivity disorder OMIM:619827
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Delayed menarche, Decreased... ORPHA:247585
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Macroglossia, Increased circulating thyroglobulin level, Lethargy, Bradycardia OMIM:218700
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope, Pierre-Robin sequence, Posteriorly place... OMIM:192445
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Tachycardia, Epis... OMIM:171420
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Wide mouth, Ataxia, Broad-based gait, Hyperactivity, Abnormal eating behavior, Wi... ORPHA:98794
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Lethargy, Bradycardia ORPHA:226307
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Rod-cone dystrophy, Everted lower lip vermilion, Dysphagia, Asymmetric septal hype... OMIM:252930
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Glass Syndrome
High palate, Broad-based gait, Narrow mouth, Hyperactivity, Cleft palate, Malar flattening, Micro... OMIM:612313
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Cleft palate, Cyanosis, Tachycardia... ORPHA:137675
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Angelman Syndrome
Broad-based gait, Wide mouth, Ataxia, Inability to walk, Hyperactivity, Delayed menarche, Optic a... ORPHA:72
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity, Congestive heart failure OMIM:275000
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, High palate, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:110100
Ciliary Dyskinesia, Primary, 34
Recurrent sinusitis, Male infertility, Immotile sperm OMIM:617091
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Mandibular prognathia, Thin upper lip ve... OMIM:301013
Primary Hyperoxaluria
Intermittent claudication, Acrocyanosis, Raynaud phenomenon, Abnormality of the dentition, Retino... ORPHA:416
Ciliary Dyskinesia, Primary, 9
Recurrent sinusitis, Male infertility, Chronic sinusitis OMIM:612444
Hallermann-Streiff Syndrome
High palate, Dental malocclusion, Narrow mouth, Narrow palate, Supernumerary tooth, High, narrow ... OMIM:234100
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Bradykinesia, Dysmetria, Dysdiadochokinesis, Optic atrophy, Gait ataxia, Dysphagia OMIM:610217
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Male infertility, Immotile sperm OMIM:614874
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Angelman Syndrome
Broad-based gait, Wide mouth, Hyperactivity, Macroglossia, Widely spaced teeth, Protruding tongue... OMIM:105830
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... ORPHA:139396
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation, Microdontia OMIM:261990
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Malar flattening, Abnormal circulating creatine concentration, Athetosis, ... ORPHA:52503
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Myotonic Dystrophy 2
Premature ventricular contraction, Palpitations, Oligospermia, Elevated circulating creatine kina... OMIM:602668
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... OMIM:145600
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Male infertility, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Yellow Fever
Supraventricular arrhythmia, Hyperbilirubinemia, Hematemesis, Elevated circulating creatine kinas... ORPHA:99829
Ciliary Dyskinesia, Primary, 14
Male infertility, Chronic sinusitis, Immotile sperm, Reduced sperm motility OMIM:613807
Bone Marrow Failure Syndrome 3
Hyperactivity, Hypodontia, Micrognathia, Microdontia, Retinal dystrophy, Enamel hypoplasia, Amelo... OMIM:617052
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Prominence of the premaxilla, Pulmonary insufficiency, Micrognathia, Bradycardia OMIM:614437
Familial Dysautonomia
Ataxia, Orthostatic hypotension, Tachycardia, Optic atrophy, Gait disturbance, Hyponatremia, Hype... ORPHA:1764
Joubert Syndrome 1
Ataxia, Hyperactivity, Macroglossia, Optic disc coloboma, Retinal dystrophy, Optic disc pallor, T... OMIM:213300
Aromatase Deficiency
Female infertility, Hyperlipidemia, Hypergonadotropic hypogonadism, Primary amenorrhea, Male infe... ORPHA:91
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Hyperactivity, Retinal degeneration, Bradykinesia, Pigmentary retinopathy, Opti... OMIM:234200
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormal blood ion concentration, Abnormal oral mucosa morphology, Dilated car... ORPHA:79404
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Paroxysmal supraventricular tachycardia, Bradycardia OMIM:601375
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Hypertensive retinopathy, Tachycardia, Epis... OMIM:171300
Scorpion Envenomation
Bundle branch block, Ataxia, Hypokalemia, Priapism, Premature ventricular contraction, ST segment... ORPHA:466677
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Female infertility, Hyperlipidemia, High, narrow palate, Retrognathia, Abnormality o... ORPHA:99413
Turner Syndrome
High palate, Female infertility, Hyperlipidemia, High, narrow palate, Retrognathia, Abnormality o... ORPHA:881
Mosaic Monosomy X
High palate, Female infertility, Hyperlipidemia, High, narrow palate, Retrognathia, Abnormality o... ORPHA:99228
Monosomy X
High palate, Female infertility, Hyperlipidemia, High, narrow palate, Retrognathia, Abnormality o... ORPHA:99226
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Dysphagia, Achalasia, Sinus bradycardia, Ineffective esophageal peristalsis OMIM:619482
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, O... ORPHA:85450
Ciliary Dyskinesia, Primary, 19
Recurrent sinusitis, Male infertility OMIM:614935
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Short philtrum, Oligomenorrhea,... ORPHA:572333
Bloom Syndrome
Cheilitis, Malar flattening, Retrognathia, Micrognathia, Retinopathy, Oligospermia, Male infertil... ORPHA:125
Mucopolysaccharidosis Type 2
Gingival overgrowth, Temporomandibular joint ankylosis, Abnormality of retinal pigmentation, Reti... ORPHA:580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Irregular menstruation, Primary amenorrhea, Male infertility, Male hypogonadism, Dec... ORPHA:90793
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis OMIM:619607
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Polydipsia, Retinal pigm... OMIM:219800
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Tetrasomy 9P
High palate, Infertility, Hyperactivity, Abnormal number of permanent teeth, Cleft palate, Raynau... ORPHA:3310
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Ciliary Dyskinesia, Primary, 1
Male infertility, Chronic sinusitis, Absent frontal sinuses OMIM:244400
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
High palate, Wide mouth, U-Shaped upper lip vermilion, Hyperactivity, Macroglossia, Malar flatten... OMIM:309580
Complete Androgen Insensitivity Syndrome
Primary amenorrhea, Male infertility ORPHA:99429
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Chordee, Streak ovary, Micrognathia, Tachycardia, Male infertility, Azoospermia, Pro... ORPHA:1772
Partial Androgen Insensitivity Syndrome
Azoospermia, Primary amenorrhea, Male sexual dysfunction, Male infertility ORPHA:90797
Noonan Syndrome 1
High palate, Dental malocclusion, High, narrow palate, Cleft palate, Pulmonic stenosis, Micrognat... OMIM:163950
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Male infertility OMIM:227650
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased fertility in females,... ORPHA:251510
Cystic Fibrosis
Male infertility, Chronic sinusitis OMIM:219700

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 Wsb2

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 Wsb2.

No publications found that use IMPC mice or data for Wsb2.

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MGI Allele Allele Type Produced
Wsb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Wsb2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Wsb2tm44148(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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