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Gene: Egln3 MGI:1932288

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Gene Summary

Name:
egl-9 family hypoxia-inducible factor 3
Synonyms:
SM-20,  Hif-p4h-3,  Phd3,  2610021G09Rik

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
abnormal sinus arrhythmia Egln3tm1b(EUCOMM)Wtsi HOM Early adult 3.07×10-06

Download data as:  TSV  XLS

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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
Bone  Wholemount images heterozygote Ambiguous
Cartilage tissue  Wholemount images heterozygote Ambiguous
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 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%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 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%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

11 Images

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Eye Morphology

VIP of left fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Egln3 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 Egln3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Anisocoria, Adrenoc... OMIM:231550
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Abnormal pupil morphology, Hyperhidrosis, Arrhythmia ORPHA:2151
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology ORPHA:101082
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Hec Syndrome
Communicating hydrocephalus, Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract... ORPHA:2119
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal autonomic nervous ... ORPHA:369873
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality... ORPHA:2969
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Woolly Hair Nevus
Precocious puberty, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Pure Autonomic Failure
Anhidrosis, Orthostatic hypotension, Abnormality of circulating catecholamine level, Syncope, Abn... ORPHA:441
Alagille Syndrome
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Cryptorchidism, Abnormal pupil morpho... ORPHA:52
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal circulating corticosterone level, Increased circulating renin l... ORPHA:556037
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Short Syndrome
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Hypoplasia ... ORPHA:3163
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... ORPHA:1764
Alexander Disease
Microcoria, Hydrocephalus OMIM:203450
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal circulating corticosterone level, Increased circulating renin l... ORPHA:556030
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Hyperaldosteronism, Familial, Type Iii
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension OMIM:264350
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis ORPHA:251076
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Triple A Syndrome
Anterior hypopituitarism, Optic atrophy, Iris coloboma, Adrenal insufficiency ORPHA:869
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis OMIM:615510
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Adrenal insufficiency OMIM:618238
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Congenital Isolated Acth Deficiency
Hypotension, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199296
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Cataract, Optic atrophy, Abnormality of neuronal migration ORPHA:44
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulati... ORPHA:43
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis OMIM:619386
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating corticosterone level, Increased circulating 18-hyd... OMIM:610600
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension OMIM:203400
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... ORPHA:97287
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Adrenal insufficiency, Increased circulating renin level, H... ORPHA:427
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... OMIM:221900
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Abnormality of the adrenal glands ORPHA:289483
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cataract, Female hypogonadism, Cholelithiasis, Decreased circulating parathyr... OMIM:240300
Distal Deletion 13Q
Encephalocele, Primary adrenal insufficiency, Optic atrophy, Anencephaly, Holoprosencephaly, Iris... ORPHA:1590
Flynn-Aird Syndrome
Cataract, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes melli... ORPHA:2047
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Unilateral Ocular Duplication
Microcornea, Encephalocele, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Aa Amyloidosis
Hypothyroidism, Hypotension, Adrenal insufficiency ORPHA:85445
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cataract, Hydrocephalus, Buphthalmos, Persistent pupillary membrane, Peters anomal... OMIM:613150
Panhypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95513
Congenital Fibrosis Of Extraocular Muscles
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape... ORPHA:45358
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypotension OMIM:611489
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Infant Botulism
Cardiac arrest, Xerostomia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis ORPHA:178478
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Adenohypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95512
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Serotonin Syndrome
Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Abnormality of the autonomic nervous syste... ORPHA:43116
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Increased serum seroton... ORPHA:100080
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Iatrogenic Botulism
Orthostatic hypotension, Xerostomia, Mydriasis ORPHA:254509
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Isolated Anencephaly/Exencephaly
Anencephaly, Primary adrenal insufficiency ORPHA:1048
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, Pituitary aden... ORPHA:199299
Sheehan Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:91355
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... ORPHA:233
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Cryptorchidism, Patent ductus arteriosus, Hyperte... OMIM:613834
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Abnormal... ORPHA:370959
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Increased... ORPHA:100082
Norrie Disease
Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallo... OMIM:310600
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Microcornea, Hy... OMIM:180500
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... ORPHA:90790
Acute Adrenal Insufficiency
Orthostatic hypotension, Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial inf... ORPHA:95409
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Patent ductus arteriosus, Leukocoria, Arterial stenosis, Hypothyroidism ORPHA:1556
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an... OMIM:602482
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Craniopharyngioma
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Cutis Marmorata Telangiectatica Congenita
Hypertension, Leukocoria, Telangiectasia OMIM:219250
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Bone-marrow foam cells ORPHA:75233
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis ORPHA:70578
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo... OMIM:263400
Addison Disease
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, Primary testic... ORPHA:85138
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Panc... ORPHA:892
Knobloch Syndrome 1
Optic disc pallor, Occipital encephalocele, Band keratopathy, Patent ductus arteriosus, Chorioret... OMIM:267750
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock, Increased cir... ORPHA:100075
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Analbuminemia
Patent ductus arteriosus, Hypotension OMIM:616000
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Type II diabetes mellitus, Mydriasis ORPHA:247815
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Cryptorchidism, O... ORPHA:912
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Abnormal... ORPHA:534
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Arachnoid Cyst
Encephalocele, Facial palsy, Subarachnoid hemorrhage, Abnormality of the endocrine system, Crania... ORPHA:2356
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Uve... ORPHA:3452
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... ORPHA:91387
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature pubarche, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:98754
Superficial Siderosis
Subarachnoid hemorrhage, Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of t... ORPHA:247245
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae OMIM:615877
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature pubarche, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:98793
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Patent ductus ... OMIM:617053
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:90658
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,... ORPHA:139411
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature pubarche, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature pubarche, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:177901
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Cardiomyopathy, Third degre... OMIM:530000
Chromosome 5Q12 Deletion Syndrome
Patent ductus arteriosus, Astigmatism, Hypotension OMIM:615668
Scalp-Ear-Nipple Syndrome
Cataract, Congestive heart failure, Developmental cataract, Anisocoria, Hypertension, Hypohidrosi... OMIM:181270
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Liddle Syndrome 2
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Cholelithiasis, High-output congestive heart failure, Hypo... ORPHA:231222
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... ORPHA:739
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Aqueductal stenosis, H... ORPHA:58
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Peroxisome Biogenesis Disorder 2B
Polar cataract, Adrenal insufficiency OMIM:202370
Liddle Syndrome 1
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Hypotension, Increased circulating procalcitonin concentration ORPHA:36238
Cholesteryl Ester Storage Disease
Adrenal calcification, Hepatic foam cells, Portal hypertension, Bone-marrow foam cells, Adrenal i... OMIM:278000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Pulmonary artery stenosis OMIM:611812
Botulism
Arrhythmia, Xerostomia, Mydriasis ORPHA:1267
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Foodborne Botulism
Arrhythmia, Xerostomia, Mydriasis ORPHA:228371
Miller Fisher Syndrome
Anisocoria, Facial palsy, Mydriasis ORPHA:98919
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... ORPHA:95494
Trichinellosis
Facial palsy, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjuncti... ORPHA:863
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat... ORPHA:231226
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Hypovo... ORPHA:90794
Reni Syndrome
Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency OMIM:617575
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... OMIM:609049
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Adrenomyodystrophy
Megalocornea, Primary adrenal insufficiency ORPHA:977
Nipah Virus Disease
Hypotension ORPHA:99825
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Elevated circulating parathyroid hormone level, Hypotension ORPHA:439822
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Cerebral hemorrhage, Hydrocephalus, Polycoria, Retinal hemorrhage, Developmental... OMIM:175780
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Abno... OMIM:607364
Scrub Typhus
Myocarditis, Anterior uveitis, Hypotension, Hyperhidrosis ORPHA:83317
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Perry Syndrome
Hypotension ORPHA:178509
Coats Disease
Leukocoria, Retinal telangiectasia OMIM:300216
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Ovarian neoplasm, Palpitati... ORPHA:100079
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Aniso... ORPHA:79138
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal... ORPHA:100078
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... OMIM:261740
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Cryptorchidism, Supernumerary nipple, Heart murmur OMIM:618653
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Dilated cardiomyopat... ORPHA:231214
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Scorpion Envenomation
Bundle branch block, Tachycardia, Acute pancreatitis, Cardiac conduction abnormality, Congestive ... ORPHA:466677
Facial Spasm
Anisocoria OMIM:134300
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Thymoma, Keratoconjun... OMIM:269200
Intestinal Botulism
Xerostomia, Mydriasis ORPHA:178481
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Hyperhidrosis, Cardiomyopathy, Abnormal autonomic nervous system ... ORPHA:2131
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Abnormality of circulating cortisol level,... ORPHA:320
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Conjunctivitis, Internal ... ORPHA:99827
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Adrenal gland dysgenesis, Sever... OMIM:236680
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Holoprosencephaly, Hypergonadotropic hypogonadism, Abnormality iris morphology ORPHA:250999
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Abnormal autonomic nervous system physiology, Hypotension ORPHA:93256
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Abnorma... ORPHA:139399
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, Cryptorchidism, Pu... OMIM:235730
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis ORPHA:188
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Pineoblastoma, Vitreous h... ORPHA:790
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Decreased motor nerve conduction velocity, Facial paralysis, Optic atrophy ORPHA:99949
Poems Syndrome
Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficienc... ORPHA:2905
Inhalational Anthrax
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology ORPHA:247257
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Myasthenia Gravis
Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus morphology, H... ORPHA:589
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal pupil morphology, Microcornea, Abnormality of the pulmonary artery, Iris coloboma, Iris ... ORPHA:261552
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Meningococcal Meningitis
Shock, Papilledema, Hypotension ORPHA:33475
Inhalational Botulism
Xerostomia, Mydriasis ORPHA:254504
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hydrocephalus, Cataract OMIM:273395
Dengue Fever
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension ORPHA:99828
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... ORPHA:99147
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary arter... OMIM:619351
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Primary a... ORPHA:275761
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimul... ORPHA:488632
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hydr... OMIM:616007
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Collagenoma, Familial Cutaneous
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Pri... OMIM:115250
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Mydriasis OMIM:259720
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Legionnaires Disease
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis ORPHA:549
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Nephronophthisis 11
Anisocoria OMIM:613550
Witteveen-Kolk Syndrome
Cataract, Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Aniso... OMIM:613406
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... ORPHA:251510
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis, Primary adrenal ins... ORPHA:227982
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Doors Syndrome
Adrenal hyperplasia, Cataract, Optic atrophy, Spina bifida occulta, Congenital hypothyroidism, Po... ORPHA:79500
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Abnormal pupi... ORPHA:286
Acute Radiation Syndrome
Cataract, Hypotension, Telangiectasia ORPHA:454831
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Increased circulating renin level, Palpitations, ... OMIM:263800
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency, Xerostomia, Thymoma... ORPHA:227990
Wolf-Hirschhorn Syndrome
Rieger anomaly, Precocious puberty, Cryptorchidism, Hydrocephalus, Ectopia pupillae, Iris coloboma OMIM:194190
Gitelman Syndrome
Maternal diabetes, Hyperhidrosis, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis, Rayna... ORPHA:358
Pearson Syndrome
Hypoparathyroidism, Cataract, Diabetes mellitus, Decreased response to growth hormone stimulation... ORPHA:699
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Adrenal insufficiency OMIM:614863
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hyperhidrosis, Hypertension, Bradycardia, Abnormal autonomic ner... ORPHA:94093
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Hypotension ORPHA:292
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Arrhythmia, Optic atrophy, Hypotension ORPHA:2135
Poliomyelitis
Hypotension, Hypertension, Hypovolemic shock, Abnormal motor nerve conduction velocity ORPHA:2912
Retinoblastoma
Vitreous hemorrhage, Leukocoria, Pinealoma OMIM:180200
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Hepatic necrosis, Hepatocellular necrosis, Intracranial hemor... ORPHA:90062
Neurooculorenal Syndrome
Iris atrophy, Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal steno... OMIM:620305
Lujo Hemorrhagic Fever
Shock, Myocarditis, Hyperhidrosis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Anhidrosis, Hypohidrosis, Abnormal autonomic nervous syste... OMIM:146500
Microphthalmia, Syndromic 2
Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Developmental cataract, Microc... OMIM:300166
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Spina bifida, Testicular neoplasm, Precoci... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Spina bifida, Testicular neoplasm, Precoci... ORPHA:363958
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Hyperhidrosis OMIM:608643
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Bile duct proliferation, Polymicrogyria, Primary adrenal ins... OMIM:261515
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Oculoauricular Syndrome
Cataract, Sclerocornea, Chorioretinal atrophy, Spina bifida occulta, Developmental cataract, Micr... OMIM:612109
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p... ORPHA:98977
Oculodentodigital Dysplasia
Neurogenic bladder, Cataract, Optic atrophy, Abnormality iris morphology, Microcornea, Arrhythmia ORPHA:2710
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Optic atrophy, Hypotension ORPHA:428
Sponastrime Dysplasia
Cataract, Precocious puberty, Microcoria, Hypothyroidism, Congenital aphakia ORPHA:93357
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Orchitis, Pancreatitis, Hypovolemia, Uveitis, Capillary leak, S... ORPHA:99826
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Hereditary Angioedema Type 1
Limbal edema, Hypotension ORPHA:100050
Leptospirosis
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Uveitis, Subc... ORPHA:509
Plague
Tachycardia, Hematemesis, Hypotension, Arrhythmia, Conjunctival hyperemia, Mydriasis ORPHA:707
Pallister-Hall Syndrome
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... ORPHA:672
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis OMIM:619727
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Anhidrosis, ST segment depression, Hypotension, Abnormal T-wave, Abnormal ... ORPHA:466650
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Hyperald... OMIM:601678
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Low-... OMIM:241200
Orofaciodigital Syndrome Type 4
Monorchism, Primary adrenal insufficiency, Decreased testicular size, Absent testis ORPHA:2753

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 Egln3

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 Egln3.

No publications found that use IMPC mice or data for Egln3.

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
Egln3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Egln3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Egln3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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