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Gene: Glrx3 MGI:1353653

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
preweaning lethality, complete penetrance Glrx3tm1.1(KOMP)Vlcg HOM   Early adult 0.00
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

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.

Adult LacZ

LacZ Images Section

24 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... OMIM:618734
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Myotonia Congenita, Autosomal Dominant
Myotonia, Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... ORPHA:36382
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transi... ORPHA:284388
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Afibrinogenemia, Congenital
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... OMIM:202400
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... ORPHA:684
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage OMIM:603284
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... ORPHA:1041
Moderate Hemophilia A
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... ORPHA:169805
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Craniofaciofrontodigital Syndrome
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... ORPHA:363705
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... ORPHA:231160
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Severe Hemophilia A
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... ORPHA:169802
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Dural Sinus Malformation
Cerebellar hemorrhage, Cerebral edema, Vascular dilatation, Cerebral hemorrhage, Hydrocephalus, C... ORPHA:97339
Hemophilia A
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Joint swelling, ... ORPHA:98878
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Congenital Factor Ii Deficiency
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... ORPHA:325
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele OMIM:613885
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, St... ORPHA:449285
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persistent bleeding after t... ORPHA:331
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
Myotonia Congenita, Autosomal Recessive
Myotonia, Myotonia with warm-up phenomenon, Percussion myotonia, EMG: myotonic runs OMIM:255700
Familial Afibrinogenemia
Cerebral hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding, Joint swelling ORPHA:98880
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... OMIM:227500
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... ORPHA:136
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast... ORPHA:853
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... ORPHA:465
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricular h... OMIM:261740
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage OMIM:300049
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Azoospermia, Abn... OMIM:300845
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Thomsen And Becker Disease
Myotonia ORPHA:614
Fetal Gaucher Disease
Neonatal death, Hydrops fetalis, Intracranial hemorrhage, Stillbirth ORPHA:85212
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology OMIM:608776
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Azoospermia, Dilated cardiomyopathy, H... ORPHA:280679
Sneddon Syndrome
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke OMIM:182410
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Handgrip myotonia, Percussion myotonia OMIM:168300
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... OMIM:227600
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... ORPHA:99147
Fibronectin Glomerulopathy
Pedal edema, Hypertension, Cerebral hemorrhage ORPHA:84090
Primary Angiitis Of The Central Nervous System
Transient ischemic attack, Stroke, Cerebral vasculitis, Intracranial hemorrhage ORPHA:140989
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... ORPHA:624
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... ORPHA:53719
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Abnormal bleeding, Pleural ef... ORPHA:292
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis, Petechiae ORPHA:231111
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Pericardial effusion, Aortic aneurysm, Atrial septal defect, Multiple muscular ve... OMIM:620070
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Lymphedema, Pericardial effusion, Thyroid lymphangiectasia, Pulmonary ... OMIM:235510
Dengue Fever
Hypotension, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Gingival bleedin... ORPHA:99828
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal he... ORPHA:36412
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyd... ORPHA:90065
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... OMIM:605714
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... ORPHA:199241
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al... ORPHA:464321
Kaposiform Lymphangiomatosis
Pericardial effusion, Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis... ORPHA:464329
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Intracranial hemorrhage ORPHA:398189
Joubert Syndrome 14
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Intracranial hemorrhage, Hy... OMIM:614424
Primary Intestinal Lymphangiectasia
Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Ascites, Abnormal lym... ORPHA:90362
Myotonia Fluctuans
Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the face, Myotonia of t... ORPHA:99734
Tempi Syndrome
Transudative pleural effusion, Ascites, Telangiectasia, Intracranial hemorrhage ORPHA:284227
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Pleural ... OMIM:617397
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mi... OMIM:177850
Brody Disease
Myotonia, Percussion myotonia OMIM:601003
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... ORPHA:26793
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... ORPHA:774
Extracranial Carotid Artery Aneurysm
Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hypertension, To... ORPHA:494424
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Edema, Increased ... OMIM:619487
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Hypophosphatasia, Infantile
Polyhydramnios, Intracranial hemorrhage, Stillbirth OMIM:241500
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Edema, Hydrocephalus, Pleural effusion OMIM:617822
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time ORPHA:49566
Myotonia, Potassium-Aggravated
Myotonia, Handgrip myotonia, Percussion myotonia OMIM:608390
Myofibrillar Myopathy 10
Increased QRS voltage, Prolonged QTc interval, Percussion myotonia OMIM:619040
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Bruising susceptibility, Ging... ORPHA:77259
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility, Lymphedema 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
Spina bifida occulta, Polyhydramnios, Subdural hemorrhage OMIM:618291
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema ORPHA:79126
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Ascites ORPHA:93552
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... ORPHA:99827
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Intracranial... ORPHA:369929
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Stroke-like episode, Prolon... OMIM:212065
Hypokalemic Periodic Paralysis
Impaired myocardial contractility, Myotonia ORPHA:681
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... ORPHA:251274
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... OMIM:610655
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Stroke, Varicose veins OMIM:263400
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage, Budd-Chiari syndrome OMIM:263300
Q Fever
Endocarditis, Pericardial effusion, Purpura, Pleural effusion, Pericarditis, Abnormal left ventri... ORPHA:781
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Ascites ORPHA:2905
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Edema, Oral cavity bleed... ORPHA:324636
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... ORPHA:1908
Aspergillosis
Pleural effusion, Stroke, Intracranial hemorrhage ORPHA:1163
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia OMIM:618183
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy, Dehydration OMIM:606054
Parkes Weber Syndrome
Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:90307
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Bruis... ORPHA:536532
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Polyhydramnios, Subdural hemorrhage OMIM:615368
Myotonic Dystrophy 1
Atrial flutter, First degree atrioventricular block, Myotonia, Atrial fibrillation OMIM:160900
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Mirage Syndrome
Patent ductus arteriosus, Petechiae, Hydrocephalus, Intracranial hemorrhage, Intrauterine growth ... OMIM:617053
Cerebral Visual Impairment
Hydrocephalus, Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Cerebral edema, Dilated cardiomyopathy, Congestive h... ORPHA:99901
Myotonic Dystrophy 2
Right bundle branch block, Myotonia, Handgrip myotonia, Premature ventricular contraction, Palpit... OMIM:602668
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Bicuspid aortic valve, Abn... ORPHA:1120
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Dehydration OMIM:251000
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Alg9-Cdg
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... ORPHA:79328
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Hypertension, Oligohydramnios, Hypertrophic cardiomyopathy, Edema, Hemateme... OMIM:615846
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Gaucher Disease Type 3
Pulmonary arterial hypertension, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morp... ORPHA:77261
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Hemorrhagic Fever-Renal Syndrome
Hypotension, Pulmonary edema, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis... ORPHA:340
Aymé-Gripp Syndrome
Pericardial effusion, Hydrocephalus, Pericarditis, Patent ductus arteriosus ORPHA:1272
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Pericardial effusion, Medial calcification of large arte... ORPHA:51608
Thoraco-Abdominal Enteric Duplication
Meningocele, Dextrocardia, Abnormal tricuspid valve morphology ORPHA:1759
Chédiak-Higashi Syndrome
Pericardial effusion, Abnormal bleeding, Bruising susceptibility, Epistaxis, Edema, Pleural effus... ORPHA:167
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Wiskott-Aldrich Syndrome
Sudden cardiac death, Petechiae, Purpura, Intracranial hemorrhage, Bruising susceptibility, Inter... ORPHA:906
Subependymal Nodular Heterotopia
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele ORPHA:101030
Hennekam Syndrome
Hydrops fetalis, Lymphedema, Pericardial effusion, Arteriovenous malformation, Pulmonary lymphang... ORPHA:2136
Cocaine Intoxication
Hypotension, Ischemic stroke, Pulmonary edema, Hypovolemia, Cerebral hemorrhage, Ventricular arrh... ORPHA:90068
Stormorken Syndrome
Abnormal bleeding, Bruising susceptibility, Epistaxis, Stroke-like episode, Subarachnoid hemorrhage OMIM:185070
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Congestive heart fa... ORPHA:363618
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Subcutaneous hemorrhage, Arteriovenous malformation, Lymphedema, Aortic aneurysm,... ORPHA:109
Lymphangioleiomyomatosis
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites, P... ORPHA:538
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Hydrops fetalis, Hydrocephalus, Dilated card... ORPHA:79282
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Increased nuchal translucency, Oligohydramnios OMIM:618480
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Hypertrophic... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Hypertrophic... ORPHA:261
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Dilated cardiomyopathy, Ventricular ... ORPHA:98855
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Neonatal death, Intrauterine growth retardation, Prolonged prothromb... OMIM:619055
Hellp Syndrome
Hypotension, Pulmonary edema, Cerebral hemorrhage, Internal hemorrhage, Pleural effusion, Prolong... ORPHA:244242
Myhre Syndrome
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Hypertension, Atrial s... OMIM:139210
Hyperkalemic Periodic Paralysis
Myotonia, Congestive heart failure, Arrhythmia ORPHA:682
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Interrupted aortic arch, Hydro... ORPHA:163979
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Pleural effusion, Shorte... OMIM:232300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Schisis Association
Spina bifida, Anencephaly, Encephalocele ORPHA:63862
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Myotonia, Hypertrophic cardiomyopathy, Ventric... ORPHA:98863
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, D... ORPHA:3260
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Menkes Disease
Vascular dilatation, Abnormal carotid artery morphology, Intracranial hemorrhage, Venous insuffic... ORPHA:565
Gitelman Syndrome
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... ORPHA:358
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy OMIM:207950
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Congestive heart failure, Dilated ca... ORPHA:73224
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Oligohydramnios, Arrhythmia, Cardiome... OMIM:608836
Classic Homocystinuria
Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenous malformation, Intra... ORPHA:394
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... OMIM:171300
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage ORPHA:25
Isolated Klippel-Feil Syndrome
Spina bifida, Ventricular septal defect ORPHA:2345
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intraventricular hemorrhage, Intrauterine growth retardation ORPHA:79284
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Bicuspid aortic valve, Aortic aneurysm, ... ORPHA:536545
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Myotonia ORPHA:589821
Triploidy
Meningocele, Polyhydramnios, Abnormal cardiac septum morphology, Hydrocephalus, Holoprosencephaly... ORPHA:3376
Tsh-Secreting Pituitary Adenoma
Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv... ORPHA:91347
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Acute Liver Failure
Hypotension, Cerebral edema, Hepatocellular necrosis, Hepatic necrosis, Abnormal bleeding, Intrac... ORPHA:90062
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation ORPHA:1327
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Arachnoid Cyst
Subarachnoid hemorrhage, Holoprosencephaly, Hydrocephalus, Encephalocele ORPHA:2356
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris... ORPHA:740
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Myotonia, Handgrip myotonia ORPHA:324442
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation OMIM:603194
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Polyhydramnios, Intraventricular hemorrhage, Hydrocephalus OMIM:613603
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Wildervanck Syndrome
Meningocele ORPHA:3456
Mosaic Trisomy 9
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Spina bifid... ORPHA:99776
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Spina bifida occulta, Dextrocardia ORPHA:2437
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Loeys-Dietz Syndrome 3
Aortic tortuosity, Ventricular hypertrophy, Ascending aortic dissection, Thoracic aortic aneurysm... OMIM:613795
Humero-Radial Synostosis
Meningocele ORPHA:3265
Hydranencephaly
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... ORPHA:2177
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Spina bifida occulta, Anomalous pulmonary venous return, Intrauterine growth retarda... ORPHA:2311
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility, Prolonged G2 phase of cell cycl... OMIM:227646
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Bruising susceptibility OMIM:600901
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Intrauterine growth retardation, Bruising susceptibility, Ventr... OMIM:227645
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Polyhydramnios, Atrioventricular canal defect, Right atrial isomeris... OMIM:306955
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage ORPHA:90795
Myotonia Permanens
Myotonia ORPHA:99735
Fountain Syndrome
Spina bifida occulta, Spina bifida, Facial edema ORPHA:3219
Cockayne Syndrome Type 3
Aortic root aneurysm, Retinal hemorrhage, Premature coronary artery atherosclerosis, Subdural hem... ORPHA:90324
Posterior Meningocele
Meningocele, Neural tube defect, Occipital meningocele, Hydromyelia, Hydrocephalus, Lipomyelomeni... ORPHA:268810
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle, Abnormal heart morphology, Bruising susceptibility OMIM:227650
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Intracranial hemorrhage ORPHA:91350
Lateral Meningocele Syndrome
Meningocele, Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Hydrocep... OMIM:130720
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Pleural effusion, Pulmonary arterial hypertension OMIM:181000
Osteogenesis Imperfecta
Aortic root aneurysm, Noncommunicating hydrocephalus, Cerebral hemorrhage, Mitral valve prolapse,... ORPHA:666
Viss Syndrome
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, A... OMIM:619472
Koolen-De Vries Syndrome Due To A Point Mutation
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Aortic aneurysm, A... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Hydrocephalus, Aortic aneurysm, A... ORPHA:363958
Dpagt1-Cdg
Anasarca, Prolonged QT interval, Intracranial hemorrhage, Stroke-like episode ORPHA:86309
Superficial Siderosis
Abnormal vertebral artery morphology, Arteriovenous malformation, Abnormal bleeding, Internal hem... ORPHA:247245
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Ventricular septal defect, Spina bifida, Hydranencephaly, Intraute... ORPHA:1393
Iniencephaly
Polyhydramnios, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hy... ORPHA:63259
Sacral Defect With Anterior Meningocele
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Myeloschisis, Dermal sinus tract OMIM:600145
Neu-Laxova Syndrome 2
Spina bifida, Polyhydramnios, Edema, Intrauterine growth retardation OMIM:616038
Pagod Syndrome
Meningocele, Sudden cardiac death, Abnormal aortic morphology, Encephalocele, Spina bifida, Hypop... ORPHA:991
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Myotonia, Shortened PR interval, Prolonged QT interval, Palpit... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage, Intrauterine growth retardation OMIM:619714
22Q11.2 Deletion Syndrome
Meningocele, Polyhydramnios, Truncus arteriosus, Retinal arteriolar tortuosity, Abnormal aortic a... ORPHA:567
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Nelson Syndrome
Hypertension, Intracranial hemorrhage ORPHA:199244
Phakomatosis Pigmentokeratotica
Spina bifida, Arrhythmia, Raynaud phenomenon, Lymphedema ORPHA:2874
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Meningioma
Hydrocephalus, Cerebral hemorrhage, Syncope ORPHA:2495
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Spina ... OMIM:256520
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Riddle Syndrome
Intraventricular hemorrhage, Conjunctival telangiectasia, Telangiectasia ORPHA:420741
Lateral Meningocele Syndrome
Meningocele, Ventricular septal defect, Umbilical hernia ORPHA:2789
Vacterl With Hydrocephalus
Polyhydramnios, Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine g... ORPHA:3412
Arnold-Chiari Malformation Type Ii
Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis ORPHA:1136
Trisomy 18
Ventricular septal defect, Spina bifida, Anencephaly, Atrial septal defect, Oligohydramnios, Holo... ORPHA:3380
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... ORPHA:2369
Focal Dermal Hypoplasia
Patent ductus arteriosus, Ventricular septal defect, Abnormal cardiac septum morphology, Spina bi... ORPHA:2092
Witteveen-Kolk Syndrome
Polyhydramnios, Intracranial hemorrhage, Branchial fistula, Intrauterine growth retardation OMIM:613406
Fanconi Anemia
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal cardiac septum morphology, Abnorma... ORPHA:84
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Retin... OMIM:175780
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Edema of the ... OMIM:274000
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension ORPHA:139417
Neu-Laxova Syndrome
Spina bifida, Polyhydramnios, Intrauterine growth retardation ORPHA:2671
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect, Perimembranous vent... ORPHA:508498
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Marfan Syndrome
Meningocele, Aortic tortuosity, Ascending tubular aorta aneurysm, Descending aortic dissection, M... ORPHA:558
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Arrhinencephaly, Occipital meningocele, Coarctation of aorta OMIM:277170
Hallermann-Streiff Syndrome
Spina bifida, Telangiectasia, Hypertension, Pulmonary arterial hypertension OMIM:234100
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Myotonia OMIM:601559
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Occipital encephalocele ORPHA:397715
Pmm2-Cdg
Lymphedema, Pericardial effusion, Angina pectoris, Intracranial hemorrhage, Pericarditis, Hypertr... ORPHA:79318
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, Vascul... OMIM:180849
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma OMIM:109400
Jacobsen Syndrome
Ventricular septal defect, Spina bifida, Coarctation of aorta, Hypoplastic left heart, Aortic val... ORPHA:2308
Lathosterolosis
Meningocele, Intrauterine growth retardation ORPHA:46059
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Myotonia, Arrhythmia ORPHA:800
Nail-Patella Syndrome
Spina bifida OMIM:161200
Phocomelia, Schinzel Type
Meningocele, Hydrops fetalis, Intrauterine growth retardation ORPHA:2879
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Idiopathic Camptocormia
Myotonia ORPHA:1320
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Neurofibromatosis, Type I
Aqueductal stenosis, Spina bifida, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Vater/Vacterl Association
Patent ductus arteriosus, Ventricular septal defect, Spina bifida, Patent urachus, Occipital ence... OMIM:192350
Campomelic Dysplasia
Polyhydramnios, Spinal dysraphism, Spina bifida, Hydrocephalus, Abnormal heart morphology OMIM:114290
Split Cord Malformation
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Cervical spina bifida, Lipomyelomening... ORPHA:573278
Holoprosencephaly 7
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... OMIM:610828
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele, Patent ductus arteriosus OMIM:267750
Otopalatodigital Syndrome, Type Ii
Spina bifida, Hydrocephalus, Atrial septal defect, Stillbirth, Dilatation of the sinus of Valsalv... 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
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus, Abnormal heart morphology 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.

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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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