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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous

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 Skull Dorso Ventral Orientation

2 Images

X-ray

XRay Images Forepaw

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 Whole Body Lateral 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
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Congenital Heart Block
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... ORPHA:60041
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Internal Carotid Absence
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery ORPHA:981
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... 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, Bone-marrow foam cells, Ascites OMIM:256150
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Familial Cervical Artery Dissection
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage... ORPHA:36382
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic runs, Myo... OMIM:160800
Reversible Cerebral Vasoconstriction Syndrome
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... ORPHA:284388
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... OMIM:202400
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Percussion myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Myot... ORPHA:684
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardio... OMIM:614702
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Cerebral hemorrhage, Intracranial hemorrhage OMIM:105150
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... ORPHA:326
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... ORPHA:2414
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar... ORPHA:1041
Moderate Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Gingi... ORPHA:169805
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... OMIM:273800
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... ORPHA:231160
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Severe Hemophilia A
Persistent bleeding after trauma, Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrha... ORPHA:169802
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Hydrocephalus, Arteriovenous fistula, Abnormal facial... ORPHA:97339
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Hemophilia A
Spontaneous hematomas, Gastrointestinal hemorrhage, Joint hemorrhage, Intracranial hemorrhage, Jo... ORPHA:98878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Stroke, Gingival bleeding, Cerebral ischemia, Hypotension, Angioe... ORPHA:449285
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Delayed o... ORPHA:331
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... ORPHA:136
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Umbilical hernia, Pericardial effusion, Congenital hypertrophy... OMIM:239850
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia OMIM:255700
Factor Vii Deficiency
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... OMIM:227500
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling ORPHA:98880
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... ORPHA:853
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wave inversion, Anas... OMIM:261740
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus OMIM:300049
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Menorrhagia, Joint hemo... ORPHA:465
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Thomsen And Becker Disease
Myotonia ORPHA:614
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Intracranial hemorrhage, Neonatal death ORPHA:85212
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Azoospermia, Hypertension,... ORPHA:280679
Sneddon Syndrome
Ischemic stroke, Stroke, Hypertension, Cerebral hemorrhage, Bicuspid aortic valve OMIM:182410
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
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
Paramyotonia Congenita
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia OMIM:168300
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... ORPHA:99147
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Cerebral vasculitis, Intracranial hemorrhage ORPHA:140989
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Aortic aneurysm, Multiple muscular ventricular septal defects, Pericardial effusi... OMIM:620070
Familial Multiple Nevi Flammei
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Edema, Pul... ORPHA:624
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... ORPHA:31825
Wyburn-Mason Syndrome
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... ORPHA:53719
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion... ORPHA:292
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, ... ORPHA:36412
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Pleural lymphang... OMIM:235510
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Hemothorax, Pleural effusion, Abnormal pulmo... ORPHA:199241
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Petechiae, Prolonged QTc interval ORPHA:231111
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Ascites, Hypotension, Epistaxis, Cereb... ORPHA:99828
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigeminy, Patent foramen ovale... OMIM:620519
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites OMIM:608776
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Hydrocephalus, Prolonged QTc interval, Hypertension, C... ORPHA:90065
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... ORPHA:91387
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena... ORPHA:464321
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Per... OMIM:618775
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Pleural effusion, Abnormal lymphatic vessel morphology, P... ORPHA:464329
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Tricuspid regurgitation, Neonatal death, Cerebral hemorrhage, Left ventricular dilat... OMIM:620300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... OMIM:300845
Pseudo-Torch Syndrome 2
Bradycardia, Petechiae, Pleural effusion, Ascites, Secundum atrial septal defect, Cerebral hemorr... OMIM:617397
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Intracranial hemorrhage ORPHA:398189
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Pleural effusion, Ascites, Abnormal lymphatic vessel morphology, Gen... ORPHA:90362
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Hypertension, Intracranial hemorrhage, Ventricular sep... OMIM:614424
Tempi Syndrome
Transudative pleural effusion, Ascites, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... OMIM:177850
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Pericardial effusion, Ventricu... ORPHA:26793
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hypertension, Ascites, Portal hypertension, Pericarditis, Pericardial e... OMIM:619487
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Pleural effusion, Hydrocephalus OMIM:617822
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock ORPHA:49566
Hypophosphatasia, Infantile
Stillbirth, Polyhydramnios, Intracranial hemorrhage OMIM:241500
Myofibrillar Myopathy 10
Increased QRS voltage, Percussion myotonia, Prolonged QTc interval OMIM:619040
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Lymphedema, Bruising susceptibility, Intracranial hemorrhage ORPHA:3226
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Myotonia, Potassium-Aggravated
Percussion myotonia, Handgrip myotonia, Myotonia OMIM:608390
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Subdural hemorrhage, Spina bifida occulta OMIM:618291
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Hypertension, Pleural effusion ORPHA:79126
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Pediatric Systemic Lupus Erythematosus
Pleural effusion, Ascites, Pericardial effusion, Raynaud phenomenon, Edema ORPHA:93552
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Total anomalous pulmonary venous r... ORPHA:494424
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Epistaxis, Diffuse alveol... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Cardiomyopathy, Pericarditis, Pericardial effusion, Stroke-like episo... OMIM:212065
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effusion ORPHA:846
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Myotonia of the ... ORPHA:99734
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Epistaxis, Ecchymosis, Intracranial h... ORPHA:324636
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L... OMIM:610655
Q Fever
Myocarditis, Abnormal vascular morphology, Purpura, Abnormal left ventricular function, Abnormal ... ORPHA:781
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart ORPHA:2476
Erythrocytosis, Familial, 2
Stroke, Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Varicose veins OMIM:263400
Cardiac-Urogenital Syndrome
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Pa... OMIM:618280
Aspergillosis
Stroke, Pleural effusion, Intracranial hemorrhage ORPHA:1163
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Pericardial effusion, Hematochezia, Anasarca OMIM:618183
Menkes Disease
Intrauterine growth retardation, Intracranial hemorrhage OMIM:309400
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Pulmonary artery ... ORPHA:1908
Poems Syndrome
Pleural effusion, Ascites, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Familial Hyperaldosteronism Type I
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:403
Familial Hyperaldosteronism Type Ii
Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:404
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, Oligo... OMIM:311900
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Parkes Weber Syndrome
Abnormal bleeding, Spinal arteriovenous malformation, Arteriovenous malformation, Venous malforma... ORPHA:90307
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy, Dehydration OMIM:606054
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Pericardial effusion, Mitral valve prolapse, Umbi... ORPHA:536532
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter, Myotonia OMIM:160900
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Mirage Syndrome
Hydrocephalus, Petechiae, Intracranial hemorrhage, Patent ductus arteriosus, Intrauterine growth ... OMIM:617053
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiom... ORPHA:99901
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cerebral Visual Impairment
Hydrocephalus, Ischemic stroke, Intracranial hemorrhage ORPHA:447788
Myotonic Dystrophy 2
Handgrip myotonia, Right bundle branch block, Premature ventricular contraction, Myotonia, Tachyc... OMIM:602668
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspid regurgitation, Spina b... ORPHA:1120
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... OMIM:171420
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydrops fetalis, Vitreous hemorrhage, Retinal arterial tortuosity, Hydranencephaly, Hydrocephalus... OMIM:620371
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Pericardial effusion, Hematoc... OMIM:615846
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Abnormal left ventricular outflow tract morphology, Tricus... ORPHA:79328
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... ORPHA:774
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Dehydration OMIM:251000
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pulmonary arterial ... ORPHA:77261
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Ventricular hypertrophy, Hypertension, Ascites, Abnormal retinal arte... ORPHA:51608
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Hydrocephalus, Patent ductus arteriosus ORPHA:1272
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Pulmonary edema, Melena, Petechiae, Capillary leak, Hypertension, Pleural effusion, ... ORPHA:340
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Vasculitis, Gingival bleeding, Internal h... ORPHA:906
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Intrauterine growth retardation, Atrial s... OMIM:611134
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele ORPHA:1759
Hennekam Syndrome
Hydrops fetalis, Arteriovenous malformation, Chylothorax, Lymphedema, Ascites, Pericardial effusi... ORPHA:2136
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Chédiak-Higashi Syndrome
Abnormal bleeding, Pleural effusion, Gingival bleeding, Pericardial effusion, Epistaxis, Edema, B... ORPHA:167
Stormorken Syndrome
Abnormal bleeding, Stroke-like episode, Epistaxis, Subarachnoid hemorrhage, Bruising susceptibility OMIM:185070
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Oligohydramnios, Increased nuchal translucency OMIM:618480
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylopericardium, Chylothorax, Hydrocephalus, Lymphedema, Ascites, P... ORPHA:538
Cocaine Intoxication
Pulmonary edema, Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertensio... ORPHA:90068
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Ventricular hype... ORPHA:363618
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Lymphedema, Intracranial hemorrhage... ORPHA:109
Myhre Syndrome
Hypertension, Aortic valve stenosis, Pericardial effusion, Coarctation of aorta, Patent ductus ar... OMIM:139210
Hellp Syndrome
Prolonged prothrombin time, Pulmonary edema, Pleural effusion, Hypotension, Internal hemorrhage, ... ORPHA:244242
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Hydrocephalus, Stroke, Dehydration, Pulmonary arterial hypertension, Abnormal he... ORPHA:79282
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Myotonia, At... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Myotonia, At... ORPHA:261
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death, Intrauterine growth reta... OMIM:619055
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Ventricular escape rhythm, Myotonia, Atrioventricular block, Dilated... ORPHA:98855
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Hyperkalemic Periodic Paralysis
Congestive heart failure, Myotonia, Arrhythmia ORPHA:682
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Hydrocephalus, Interrupted aortic arch, Intracranial hemorrhage, Heart ... ORPHA:163979
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Myocardial eosinophilic infiltration, Supraventricular arrhythmia, Pleu... ORPHA:3260
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Myotonia, At... ORPHA:98863
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Menkes Disease
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Vascular ... ORPHA:565
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Pleural effusion, Subara... OMIM:232300
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Gitelman Syndrome
Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Per... ORPHA:358
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pulmonary embolism, Gastrointestinal hemorrhage, Arteriovenous malformation, Hypertension, Cerebr... ORPHA:394
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated cardiomyopathy, Sudden c... ORPHA:73224
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Intraventricular hemorrhage, Abnormal heart morphology ORPHA:79284
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Cardiomegaly, Dilated cardiomyopathy, Oligohydram... OMIM:608836
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus ORPHA:25
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Renal artery stenosis, Cerebral hemorrhage, Posi... OMIM:171300
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Myotonia, Bundle branch block ORPHA:589821
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Aortic aneurysm, Cerebral hemorrhage, Umbilical hernia, Bicuspid aortic valve, Brui... ORPHA:536545
Triploidy
Polyhydramnios, Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation, A... ORPHA:3376
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff... ORPHA:91347
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Hepatic periportal ne... ORPHA:90062
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Myotonia ORPHA:324442
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Hypertension, Aortic valve stenosis, Abnormal mitral valve morphology, A... ORPHA:740
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Subarachnoid hemorrhage, Encephalocele ORPHA:2356
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Intraventricular hemorrhage, Polyhydramnios OMIM:613603
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia ORPHA:209335
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Subarachnoid hemorrhage OMIM:243700
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Medulloblastoma
Hydrocephalus, Cerebellar hemorrhage ORPHA:616
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele OMIM:620511
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Dextrocardia, Abnormal heart valve morphology, Spina bifida, Pat... ORPHA:99776
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2437
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven... OMIM:306955
Wildervanck Syndrome
Meningocele ORPHA:3456
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... ORPHA:2177
Myotonia Permanens
Myotonia ORPHA:99735
Cockayne Syndrome Type 3
Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke... ORPHA:90324
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Umbilical hernia, Intrauterine growth retardation, Anomalous p... ORPHA:2311
Humero-Radial Synostosis
Meningocele ORPHA:3265
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Loeys-Dietz Syndrome 3
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... OMIM:613795
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Abnormal heart morphology, Patent ductus arteriosus, Bruising susceptibility, Prol... OMIM:227646
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Bruising susceptibility OMIM:600901
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Prolonged G2 phase of cell cycle, Ventricular septal defect, Bru... OMIM:227645
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Bruising susceptibility OMIM:227650
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Viss Syndrome
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement... OMIM:619472
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Koolen-De Vries Syndrome Due To A Point Mutation
Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart m... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Aortic aneurysm, Hydrocephalus, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart m... ORPHA:363958
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Hydrocephalus, Aortic aneurysm, Umbilical hernia, Bicuspid... OMIM:130720
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Pulmonary arterial hypertension OMIM:181000
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... ORPHA:268810
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Aortic aneurysm, Hydrocephalus, Aortic roo... ORPHA:666
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hem... ORPHA:247245
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Intracranial hemorrhage ORPHA:91350
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Aortic root... OMIM:614437
Dpagt1-Cdg
Anasarca, Stroke-like episode, Prolonged QT interval, Intracranial hemorrhage ORPHA:86309
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Intrauterine growth retardation, Ve... ORPHA:1393
Neu-Laxova Syndrome 2
Edema, Polyhydramnios, Intrauterine growth retardation, Spina bifida OMIM:616038
Iniencephaly
Polyhydramnios, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Holopr... ORPHA:63259
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Intrauterine growth retardation, Subdural hemorrhage OMIM:619714
Pagod Syndrome
Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic morphology, Spina bifida, Pul... ORPHA:991
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Phakomatosis Pigmentokeratotica
Arrhythmia, Lymphedema, Raynaud phenomenon, Spina bifida ORPHA:2874
Nelson Syndrome
Hypertension, Intracranial hemorrhage ORPHA:199244
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Neu-Laxova Syndrome 1
Stillbirth, Short umbilical cord, Polyhydramnios, Transposition of the great arteries, Small plac... OMIM:256520
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Meningioma
Hydrocephalus, Syncope, Cerebral hemorrhage ORPHA:2495
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Oligohydramnios, Spina bifida, Umbilical hernia OMIM:613776
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia ORPHA:420741
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte... ORPHA:567
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Trisomy 18
Anencephaly, Spina bifida, Holoprosencephaly, Intrauterine growth retardation, Atrial septal defe... ORPHA:3380
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus OMIM:616682
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Polyhydramnios, Branchial fistula, Intracranial hemorrhage OMIM:613406
Limb Body Wall Complex
Ectopia cordis, Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydroceph... ORPHA:2369
Focal Dermal Hypoplasia
Patent ductus arteriosus, Spina bifida, Telangiectasia of the skin, Umbilical hernia, Ventricular... ORPHA:2092
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Fanconi Anemia
Abnormal carotid artery morphology, Abnormal aortic valve morphology, Arteriovenous malformation,... ORPHA:84
Vacterl With Hydrocephalus
Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:3412
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Dilation of Virchow-Robin spaces, Hydrocephalus, Ret... OMIM:175780
Marfan Syndrome
Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Aortic re... ORPHA:558
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Anencephaly, Hydrocephalus, Occipital meningocele, Atrial septal... OMIM:616546
Acute Transverse Myelitis
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage ORPHA:139417
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Edema of the dorsum of hands, Spina bifida, Prolonged bleeding fol... OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr... ORPHA:508498
Neu-Laxova Syndrome
Intrauterine growth retardation, Polyhydramnios, Spina bifida ORPHA:2671
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Hallermann-Streiff Syndrome
Hypertension, Telangiectasia, Pulmonary arterial hypertension, Spina bifida OMIM:234100
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Stuve-Wiedemann Syndrome 1
Myotonia, Pulmonary arterial hypertension OMIM:601559
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Pmm2-Cdg
Angina pectoris, Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Int... ORPHA:79318
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Cardiac rhabdomyoma, Hydrocephalus, Spina bifida OMIM:109400
Rubinstein-Taybi Syndrome 1
Perimembranous ventricular septal defect, Polyhydramnios, Spina bifida occulta, Patent foramen ov... OMIM:180849
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Jacobsen Syndrome
Spina bifida, Aortic valve stenosis, Coarctation of aorta, Intrauterine growth retardation, Ventr... ORPHA:2308
Vater/Vacterl Association
Occipital encephalocele, Transposition of the great arteries, Patent urachus, Spina bifida, Tetra... OMIM:192350
Schwartz-Jampel Syndrome
Myotonia, Pulmonary arterial hypertension, Arrhythmia ORPHA:800
Orofaciodigital Syndrome Vi
Coarctation of aorta, Occipital meningocele, Hypoplastic left heart OMIM:277170
Nail-Patella Syndrome
Spina bifida OMIM:161200
Phocomelia, Schinzel Type
Intrauterine growth retardation, Hydrops fetalis, Meningocele ORPHA:2879
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Atrioventricular canal defect, Spina bifida, Patent ductus arteriosus OMIM:619480
Idiopathic Camptocormia
Myotonia ORPHA:1320
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Campomelic Dysplasia
Polyhydramnios, Hydrocephalus, Spina bifida, Abnormal heart morphology, Spinal dysraphism OMIM:114290
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis, Spina bifida OMIM:162200
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Spina bifida, Pulmonic stenosis, Coarctation of aorta, Patent ... OMIM:134780
Knobloch Syndrome 1
Occipital encephalocele, Occipital meningocele, Spina bifida occulta, Patent ductus arteriosus OMIM:267750
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydrocephalus, Spina bifida, Dilatation of the sinus of Valsalva, Umbilical hernia, A... OMIM:304120
Aicardi Syndrome
Spina bifida OMIM:304050
Arima Syndrome
Occipital meningocele, Hypertension OMIM:243910
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Holoprosencephaly 9
Hydrocephalus, Occipital meningocele, Holoprosencephaly, Alobar holoprosencephaly OMIM:610829
Exstrophy-Epispadias Complex
Hydrocephalus, Abnormal heart morphology, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820

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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