Gene Summary

Name:
glutaredoxin 3
Synonyms:
PKC interacting cousin of thioredoxin,  Txnl2,  PICOT

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
embryonic lethality prior to organogenesis Glrx3tm1.1(KOMP)Vlcg HOM   E9.5 0.00
increased circulating alkaline phosphatase level Glrx3tm1.1(KOMP)Vlcg HET Early adult 2.42×10-05
preweaning lethality, complete penetrance Glrx3tm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Glrx3tm1.1(KOMP)Vlcg HOM   E12.5 0.00

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  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 50% (1 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote Ambiguous
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote Not available
Thalamus  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section 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)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oviduct 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen 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)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Forepaw

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

X-ray

XRay Images Skull Lateral Orientation

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Glrx3 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 Glrx3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... OMIM:618734
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Left atrial enlar... OMIM:619897
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Percussion myotonia, Myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... OMIM:160800
Familial Cervical Artery Dissection
Subarachnoid hemorrhage, Stroke, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hyp... ORPHA:36382
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Tran... OMIM:115197
Reversible Cerebral Vasoconstriction Syndrome
Subarachnoid hemorrhage, Cerebral hemorrhage, Subdural hemorrhage, Ischemic stroke, Vasospasm, Ce... ORPHA:284388
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the jaw, Percussion myotonia, Myotonia... ORPHA:684
Afibrinogenemia, Congenital
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Bruising susc... OMIM:202400
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... OMIM:614702
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Congenital Factor V Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Hematochezia, Bruising susceptibil... ORPHA:326
Cerebral Cavernous Malformations 2
Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603284
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Arrhythmia, Capillary leak, Abnormal heart morphology,... ORPHA:1041
Moderate Hemophilia A
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Joint swellin... ORPHA:169805
Rippling Muscle Disease 1
Muscle mounding, Percussion-induced rapid rolling muscle contractions OMIM:600332
Glanzmann Thrombasthenia 1
Gingival bleeding, Bruising susceptibility, Subdural hemorrhage, Intracranial hemorrhage, Excessi... OMIM:273800
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Craniofaciofrontodigital Syndrome
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... ORPHA:363705
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... ORPHA:231160
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... ORPHA:2414
Dural Sinus Malformation
Subarachnoid hemorrhage, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Hydrocephalus, Cerebel... ORPHA:97339
Severe Hemophilia A
Epidural hemorrhage, Bruising susceptibility, Subdural hemorrhage, Persistent bleeding after trau... ORPHA:169802
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Hemophilia A
Joint swelling, Intracranial hemorrhage, Joint hemorrhage, Intraventricular hemorrhage, Spontaneo... ORPHA:98878
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... OMIM:613225
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Prolonged bleeding after dental extraction, Post-partum hemorrhage, I... ORPHA:325
Snakebite Envenomation
Stroke, Gingival bleeding, Hypotension, Edema, Angioedema, Cardiogenic shock, Intracranial hemorr... ORPHA:449285
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion OMIM:613885
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Congenital Factor Xiii Deficiency
Gingival bleeding, Prolonged bleeding after dental extraction, Bruising susceptibility, Cerebral ... ORPHA:331
Cantu Syndrome
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef... OMIM:239850
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up phenomenon OMIM:255700
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Ischemic stroke, Intracranial hemorrhage, Hypertension, Transient is... ORPHA:136
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Familial Afibrinogenemia
Gingival bleeding, Joint swelling, Cerebral hemorrhage, Abnormal bleeding, Epistaxis ORPHA:98880
Factor Vii Deficiency
Prolonged bleeding after dental extraction, Bruising susceptibility, Intracranial hemorrhage, Joi... OMIM:227500
Immune Thrombocytopenia
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... ORPHA:3002
Fetal And Neonatal Alloimmune Thrombocytopenia
Subarachnoid hemorrhage, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Purpura, Spontaneo... ORPHA:853
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... ORPHA:327
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after dental extraction, Epidural hemorrhage, Persistent bleeding after trauma... ORPHA:465
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypote... OMIM:261740
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis, Hypertension ORPHA:820
Thomsen And Becker Disease
Myotonia ORPHA:614
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after dental extraction, Bruisi... ORPHA:35909
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Hydrops fetalis, Neonatal death ORPHA:85212
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Edema, Ascites OMIM:608776
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomenon, Azoospermia, Coronary ar... ORPHA:280679
Sneddon Syndrome
Stroke, Cerebral hemorrhage, Ischemic stroke, Hypertension, Bicuspid aortic valve OMIM:182410
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia OMIM:168300
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Intracranial hemorrhage, Joint hemorrhage, Prolong... OMIM:227600
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Antepartum hemorrhage, Pr... ORPHA:328
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... ORPHA:79
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Bruising suscep... ORPHA:99147
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... ORPHA:98879
Fibronectin Glomerulopathy
Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Primary Angiitis Of The Central Nervous System
Stroke, Cerebral vasculitis, Intracranial hemorrhage, Transient ischemic attack ORPHA:140989
Familial Multiple Nevi Flammei
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... ORPHA:624
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Int... ORPHA:555874
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... ORPHA:53719
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Aortic aneurysm, Polyhydramnios, Pericardial effusion, Multiple muscular ve... OMIM:620070
Congenital Enterovirus Infection
Myocarditis, Hypotension, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Fetal ascites, Pericar... ORPHA:292
Methanol Poisoning
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Permanent ... ORPHA:31825
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion, Petechiae ORPHA:231111
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Ventricular septal defect, Atrial septal defect, Pleural lymphangiecta... OMIM:235510
Dengue Fever
Gingival bleeding, Bruising susceptibility, Hypotension, Cerebral hemorrhage, Gastrointestinal he... ORPHA:99828
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, Transient i... ORPHA:91387
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Cerebral hemorrhage, Hydrocephalus, Left ventricular hypertrophy, Syncope... ORPHA:90065
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Angioedema, Abnormal heart valve morphology, Pericardial effusion, Pleur... ORPHA:36412
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Cerebral Amyloid Angiopathy, App-Related
Subarachnoid hemorrhage, Stroke, Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cereb... OMIM:605714
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Pe... ORPHA:199241
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Persiste... OMIM:618775
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Right aortic arch, Cerebral hemorrhage, Abnormal left ventricle morphology, Hypertension, Prematu... OMIM:300845
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Intracranial ... ORPHA:464321
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecchymosis, S... ORPHA:464329
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Intracranial hemorrhage, Hy... OMIM:614424
Primary Intestinal Lymphangiectasia
Edema, Abnormal lymphatic vessel morphology, Pericardial effusion, Pleural effusion, Intestinal l... ORPHA:90362
Myotonia Fluctuans
Myotonia of the upper limb, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the face, ... ORPHA:99734
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycar... OMIM:617397
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites ORPHA:284227
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu... OMIM:619313
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Pseudoxanthoma Elasticum, Forme Fruste
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... OMIM:177850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular tachycardia, Tachycardia, Ventricular septal defect, Atrial septal defect, Arrhythmia... ORPHA:26793
Aicardi-Goutieres Syndrome 9
Edema, Left ventricular hypertrophy, Hypertension, Intrauterine growth retardation, Portal hypert... OMIM:619487
Hereditary Hemorrhagic Telangiectasia
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Pulmonary arterial hypertension, Abnor... ORPHA:774
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... ORPHA:494424
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Intracranial hemorrhage OMIM:241500
Alkuraya-Kucinskas Syndrome
Pleural effusion, Pericardial effusion, Edema, Hydrocephalus OMIM:617822
Myotonia, Potassium-Aggravated
Percussion myotonia, Myotonia, Handgrip myotonia OMIM:608390
Acquired Purpura Fulminans
Prolonged prothrombin time, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage ORPHA:49566
Gaucher Disease Type 1
Pulmonary arterial hypertension, Gingival bleeding, Bruising susceptibility, Abnormal myocardium ... ORPHA:77259
Myofibrillar Myopathy 10
Prolonged QTc interval, Percussion myotonia, Increased QRS voltage OMIM:619040
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Lymphedema, Bruising susceptibility ORPHA:3226
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Spina bifida occulta, Subdural hemorrhage OMIM:618291
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Hypoplastic left heart, Spina bifida ORPHA:2476
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Acute Interstitial Pneumonia
Pleural effusion, Peripheral edema, Hypertension, Pericardial effusion ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:93552
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cardiomyopathy, Pericardial effusion OMIM:620089
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Bruising susceptibility, Cerebral hemorrhage, Joint hemorrhage, Ecchy... OMIM:277450
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial h... ORPHA:99827
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... ORPHA:369929
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Nonimmune hydrops fetalis, Edema, Cardiomyopathy, Pericardial effusio... OMIM:212065
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Myotonia ORPHA:681
Non-Functioning Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:94080
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... ORPHA:251274
Telangiectasia, Hereditary Hemorrhagic, Type 4
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Conjunctival t... OMIM:610655
Erythrocytosis, Familial, 2
Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Varicose veins OMIM:263400
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Q Fever
Myocarditis, Vasculitis, Endocarditis, Abnormal heart valve morphology, Purpura, Abnormal left ve... ORPHA:781
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Poems Syndrome
Pulmonary arterial hypertension, Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:2905
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Edema, Intracranial hemorrhage, Joint hemorrhage, Ecchymosis, Gastrointe... ORPHA:324636
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Pulmonary artery atresia, Hydrocephalus... ORPHA:1908
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Aspergillosis
Stroke, Intracranial hemorrhage, Pleural effusion ORPHA:1163
Familial Hyperaldosteronism Type I
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:403
Cardiac-Urogenital Syndrome
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tetralogy of Fallot... OMIM:618280
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Polyhydramnios, Pericardial effusion, Pleural effusion, Ascites OMIM:618183
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage, Intrauterine growth retardation, ... OMIM:311900
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Familial Hyperaldosteronism Type Ii
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:404
Propionic Acidemia
Cardiomyopathy, Dehydration, Cerebellar hemorrhage OMIM:606054
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Parkes Weber Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... ORPHA:90307
Classical-Like Ehlers-Danlos Syndrome Type 2
Bruising susceptibility, Aortic root aneurysm, Umbilical hernia, Varicose veins, Carotid artery s... ORPHA:536532
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa telangiect... OMIM:187300
Myotonic Dystrophy 1
Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Mirage Syndrome
Hydrocephalus, Intracranial hemorrhage, Intrauterine growth retardation, Petechiae, Patent ductus... OMIM:617053
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Hydrocephalus ORPHA:447788
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebral edema, Sudden cardiac death, Congestive heart failure, Dilat... ORPHA:99901
Myotonic Dystrophy 2
Handgrip myotonia, Palpitations, Myotonia, Premature ventricular contraction, Tachycardia, Right ... OMIM:602668
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Coarctation of aorta, Spina bifida, Atrial septal defect, Atrioventricular canal defect, Tricuspi... ORPHA:1120
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... OMIM:600376
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Dehydration, Cerebellar hemorrhage OMIM:251000
Pheochromocytoma--Islet Cell Tumor Syndrome
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... OMIM:171420
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Abnormal renal artery morpholog... ORPHA:79328
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Edema, Hypertension, Intrauterine growth retardation, Hematemesis, Olig... OMIM:615846
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:231625
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Gaucher Disease Type 3
Pulmonary arterial hypertension, Hydrops fetalis, Abnormal heart valve morphology, Mitral valve c... ORPHA:77261
Generalized Arterial Calcification Of Infancy
Stroke, Ventricular hypertrophy, Transient ischemic attack, Pulmonary arterial hypertension, Coro... ORPHA:51608
Aymé-Gripp Syndrome
Pericarditis, Pericardial effusion, Patent ductus arteriosus, Hydrocephalus ORPHA:1272
Hemorrhagic Fever-Renal Syndrome
Hypotension, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Internal hemorr... ORPHA:340
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Chédiak-Higashi Syndrome
Gingival bleeding, Edema, Bruising susceptibility, Pericardial effusion, Abnormal bleeding, Pleur... ORPHA:167
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... OMIM:611134
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Wiskott-Aldrich Syndrome
Vasculitis, Gingival bleeding, Recurrent intrapulmonary hemorrhage, Hematochezia, Bruising suscep... ORPHA:906
Stormorken Syndrome
Subarachnoid hemorrhage, Bruising susceptibility, Abnormal bleeding, Epistaxis, Stroke-like episode OMIM:185070
Hennekam Syndrome
Hydrops fetalis, Arteriovenous malformation, Pericardial effusion, Lymphedema, Pulmonary lymphang... ORPHA:2136
Cocaine Intoxication
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... ORPHA:90068
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... ORPHA:363618
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Aortic aneurysm, Intracranial hemorrhage, Telangiectasia, Angina pect... ORPHA:109
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios OMIM:618480
Hellp Syndrome
Prolonged prothrombin time, Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhag... ORPHA:244242
Lymphangioleiomyomatosis
Hydrocephalus, Chylopericardium, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Lym... ORPHA:538
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Pulmonary arterial hypertension, Dehydration, Subdural hemorrhage, Hydrocephalus, Hydrops... ORPHA:79282
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage, Intrauterine growth retardation, Neonata... OMIM:619055
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated card... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated card... ORPHA:261
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated card... ORPHA:98855
Myhre Syndrome
Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Hypertension, Intrauterine... OMIM:139210
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure, Myotonia ORPHA:682
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage, Interrup... ORPHA:163979
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia,... OMIM:232300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:276621
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
X-Linked Emery-Dreifuss Muscular Dystrophy
Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Hypertrophic... ORPHA:98863
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Joint swelling, Angioedema, Intracranial hemorrhage, Pulmonary embolism, Myoc... ORPHA:3260
Menkes Disease
Venous insufficiency, Umbilical hernia, Intracranial hemorrhage, Abnormal carotid artery morpholo... ORPHA:565
Gitelman Syndrome
Raynaud phenomenon, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood pressure, Promine... ORPHA:358
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus OMIM:207950
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated ca... ORPHA:73224
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Oligohydramnios, Dilated cardiomyopathy, Cardiome... OMIM:608836
Classic Homocystinuria
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Gastrointe... ORPHA:394
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Intrauterine growth retardation, Abnormal heart morphology ORPHA:79284
Pheochromocytoma
Cerebral hemorrhage, Renal artery stenosis, Congestive heart failure, Positive regitine blocking ... OMIM:171300
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Myotonia, First degree atrioventricular block ORPHA:589821
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Dextrocardia, Bruising susceptibility, Subdural hemorrhage, A... ORPHA:536545
Triploidy
Hydrocephalus, Meningocele, Polyhydramnios, Holoprosencephaly, Intrauterine growth retardation, A... ORPHA:3376
Tsh-Secreting Pituitary Adenoma
Hypotension, Palpitations, Hypertension, Supraventricular arrhythmia, Congestive heart failure, P... ORPHA:91347
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Acute Liver Failure
Prolonged prothrombin time, Hypotension, Bruising susceptibility, Intracranial hemorrhage, Cerebr... ORPHA:90062
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Arachnoid Cyst
Subarachnoid hemorrhage, Holoprosencephaly, Encephalocele, Hydrocephalus ORPHA:2356
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Myotonia, Handgrip myotonia, Percussion-induced rapid rolling muscle contractions ORPHA:324442
Hutchinson-Gilford Progeria Syndrome
Stroke, Intracranial hemorrhage, Abnormal mitral valve morphology, Ventricular hypertrophy, Trans... ORPHA:740
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Intrauterine growth retardation, Anencephaly OMIM:603194
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Polyhydramnios, Intraventricular hemorrhage, Hydrocephalus OMIM:613603
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:29072
Wildervanck Syndrome
Meningocele ORPHA:3456
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Atrial septal defect, Spina bifida, Hydrops fetalis, Pol... ORPHA:99776
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Loeys-Dietz Syndrome 3
Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, M... OMIM:613795
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Intrauterine gro... ORPHA:2177
Humero-Radial Synostosis
Meningocele ORPHA:3265
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Umbilical hernia, Intrauterine growth retardation, Spina bifida occulta, Anomalous p... ORPHA:2311
Fanconi Anemia, Complementation Group D2
Bruising susceptibility, Hydrocephalus, Abnormal heart morphology, Patent ductus arteriosus, Prol... OMIM:227646
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Bruising susceptibility, Abnormal heart morphology OMIM:600901
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Bruising susceptibility, Ventr... OMIM:227645
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Ventricular septal defect, Hypoplastic aortic arch, Left superior vena ca... OMIM:306955
Myotonia Permanens
Myotonia ORPHA:99735
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premat... ORPHA:90324
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Hydromyelia, Lipomyelomeningocele, Occipital meningocele, Neural tube... ORPHA:268810
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Bruising susceptibility, Abnormal heart morphology OMIM:227650
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Koolen-De Vries Syndrome Due To A Point Mutation
Pulmonic stenosis, Hydrocephalus, Aortic aneurysm, Spina bifida, Cardiomyopathy, Ventricular sept... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pulmonic stenosis, Hydrocephalus, Aortic aneurysm, Spina bifida, Cardiomyopathy, Ventricular sept... ORPHA:363958
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Lateral Meningocele Syndrome
Hydrocephalus, Aortic aneurysm, Umbilical hernia, Meningocele, Ventricular septal defect, Bicuspi... OMIM:130720
Sarcoidosis, Susceptibility To, 1
Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion OMIM:181000
Osteogenesis Imperfecta
Aortic root aneurysm, Bruising susceptibility, Aortic aneurysm, Cerebral hemorrhage, Hydrocephalu... ORPHA:666
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Ventricular septal defect, Atrial ... OMIM:619472
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Anasarca, Stroke-like episode ORPHA:86309
Superficial Siderosis
Subarachnoid hemorrhage, Arteriovenous malformation, Persistent bleeding after trauma, Internal h... ORPHA:247245
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Neu-Laxova Syndrome 2
Polyhydramnios, Intrauterine growth retardation, Edema, Spina bifida OMIM:616038
Cerebrocostomandibular Syndrome
Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Ventricular septal defect, Intraute... ORPHA:1393
Iniencephaly
Encephalocele, Spinal dysraphism, Spina bifida, Myelomeningocele, Hydrocephalus, Polyhydramnios, ... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myelomeningocele, Meningocele, Hydrocephalus, Hydromyelia, Myeloschisis, Dermal sinus tract OMIM:600145
Thyrotoxic Periodic Paralysis
Palpitations, Impaired myocardial contractility, Second degree atrioventricular block, Myotonia, ... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
Pagod Syndrome
Encephalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Meningocele, Arrhyth... ORPHA:991
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septa... ORPHA:567
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Neu-Laxova Syndrome 1
Short umbilical cord, Spina bifida, Hydranencephaly, Ventricular septal defect, Polyhydramnios, I... OMIM:256520
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Lymphedema, Spina bifida ORPHA:2874
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Meningioma
Syncope, Cerebral hemorrhage, Hydrocephalus ORPHA:2495
Obsolete: Arnold-Chiari Malformation Type Ii
Meningocele, Myelomeningocele, Aqueductal stenosis, Hydrocephalus ORPHA:1136
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia, Ventricular septal defect ORPHA:2789
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia ORPHA:420741
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Vacterl With Hydrocephalus
Spina bifida, Hydrocephalus, Polyhydramnios, Aqueductal stenosis, Intrauterine growth retardation... ORPHA:3412
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Spina bifida, Oligohydramnios, Hydrocephalus OMIM:613776
Trisomy 18
Ventricular septal defect, Spina bifida, Atrial septal defect, Holoprosencephaly, Intrauterine gr... ORPHA:3380
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Limb Body Wall Complex
Encephalocele, Short umbilical cord, Spina bifida, Myelomeningocele, Hydrocephalus, Ventricular s... ORPHA:2369
Focal Dermal Hypoplasia
Spina bifida, Ventricular septal defect, Umbilical hernia, Patent ductus arteriosus, Telangiectas... ORPHA:2092
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Witteveen-Kolk Syndrome
Polyhydramnios, Intracranial hemorrhage, Branchial fistula, Intrauterine growth retardation OMIM:613406
Fanconi Anemia
Tetralogy of Fallot, Arteriovenous malformation, Hydrocephalus, Umbilical hernia, Spina bifida, A... ORPHA:84
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Hydrocephalus, Ischemic stroke, Retinal arteriolar tortuosity, Dilation of V... OMIM:175780
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrops fetalis, Hydrocephalus, Polyhydramnios, Anencephaly, Occipital meni... OMIM:616546
Thrombocytopenia-Absent Radius Syndrome
Coarctation of aorta, Spina bifida, Tetralogy of Fallot, Ventricular septal defect, Atrial septal... OMIM:274000
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Neu-Laxova Syndrome
Polyhydramnios, Intrauterine growth retardation, Spina bifida ORPHA:2671
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coarctation of aorta, Spina bifida, Tetralogy of Fallot, Ventricular septal defect, Atrioventricu... ORPHA:508498
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Marfan Syndrome
Pulmonary artery dilatation, Descending aortic dissection, Meningocele, Arterial dissection, Mitr... ORPHA:558
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Spina bifida OMIM:234100
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Myotonia OMIM:601559
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Pmm2-Cdg
Anasarca, Intracranial hemorrhage, Angina pectoris, Pericardial effusion, Lymphedema, Hypertrophi... ORPHA:79318
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Rubinstein-Taybi Syndrome 1
Coarctation of aorta, Hypoplastic left heart, Spina bifida, Ventricular septal defect, Polyhydram... OMIM:180849
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Basal Cell Nevus Syndrome 1
Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma, Hydrocephalus OMIM:109400
Jacobsen Syndrome
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Spina bifida, Intrauteri... ORPHA:2308
Lathosterolosis
Meningocele, Intrauterine growth retardation ORPHA:46059
Schwartz-Jampel Syndrome
Arrhythmia, Pulmonary arterial hypertension, Myotonia ORPHA:800
Nail-Patella Syndrome
Spina bifida OMIM:161200
Phocomelia, Schinzel Type
Meningocele, Intrauterine growth retardation, Hydrops fetalis ORPHA:2879
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Vater/Vacterl Association
Tetralogy of Fallot, Spina bifida, Ventricular septal defect, Patent urachus, Occipital encephalo... OMIM:192350
Idiopathic Camptocormia
Myotonia ORPHA:1320
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus, Spina bifida OMIM:619480
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Aqueductal stenosis, Hypertension, Renal artery stenosis OMIM:162200
Campomelic Dysplasia
Spinal dysraphism, Spina bifida, Hydrocephalus, Polyhydramnios, Abnormal heart morphology OMIM:114290
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Meningocele, Hydrocephalus, Hydromyelia, Lipomyelomening... ORPHA:573278
Otopalatodigital Syndrome, Type Ii
Dilatation of the sinus of Valsalva, Spina bifida, Hydrocephalus, Umbilical hernia, Atrial septal... OMIM:304120
Aicardi Syndrome
Spina bifida OMIM:304050
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Exstrophy-Epispadias Complex
Spina bifida, Abnormal heart morphology, Hydrocephalus ORPHA:322

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 Glrx3

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 Glrx3.

No publications found that use IMPC mice or data for Glrx3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Glrx3tm383784(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Glrx3tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Glrx3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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