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Gene: P2rx1 MGI:1098235

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
purinergic receptor P2X, ligand-gated ion channel, 1
Synonyms:
P2X1 receptor,  RP-2,  Pdcd3,  P2x

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by P2rx1 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 P2rx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension, Infe... OMIM:615703
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Hypertension, Male pseudohermaphroditism, Primary amenorrhea OMIM:202110
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Infertility, Oligomenorrhea, Polycystic ovaries ORPHA:280356
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Denys-Drash Syndrome
Gonadal dysgenesis, Hypertension, Male pseudohermaphroditism ORPHA:220
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke OMIM:615750
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary amenorrhea, Hyp... ORPHA:347
Renal Agenesis
Hypertension, Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoosp... ORPHA:280679
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Senior-Loken Syndrome
Hypertension, Premature ovarian insufficiency ORPHA:3156
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Preeclampsia
Hypertension, Elevated systolic blood pressure, Polycystic ovaries, Elevated diastolic blood pres... ORPHA:275555
Glucocorticoid Resistance, Generalized
Hypertension, Irregular menstruation, Infertility OMIM:615962
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea OMIM:613877
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Cryptorchidism ORPHA:1192
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Polycystic ovaries ORPHA:79084
Potocki-Shaffer Syndrome
Hypertension, Micropenis ORPHA:52022
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Ochoa Syndrome
Hypertension, Cryptorchidism ORPHA:2704
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormal prostate morphology ORPHA:251992
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Bilateral... ORPHA:90797
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Renal Hypodysplasia/Aplasia 1
Hypertension, Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypospadias OMIM:201910
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... OMIM:137920
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Polycystic Kidney Disease 5
Hypertension OMIM:617610
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Hypertension, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism ORPHA:97229
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... ORPHA:36382
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Pituitary Adenoma 1, Multiple Types
Hypertension, Irregular menstruation, Cardiomyopathy OMIM:102200
Lipodystrophy, Familial Partial, Type 5
Hypertension, Irregular menstruation OMIM:615238
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Absent vas deferens, Bicornuate uterus, Hypospadias ORPHA:93111
Lipodystrophy, Familial Partial, Type 3
Hypertension, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries OMIM:604367
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoosp... OMIM:300845
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Takayasu Arteritis
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... ORPHA:3287
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Hypertension, Oligomenorrhea, Infertility, Ambiguous genital... ORPHA:786
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Congestive heart failure, Secondary amenorrhea, Primary amenorrhea, Polycystic ovar... ORPHA:79083
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia, Micropenis OMIM:613870
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Male infertility, Primary testicular failure, Congestive heart failu... ORPHA:85450
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Hypertension, Infer... ORPHA:330015
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Lacunar st... ORPHA:136
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Decreased fertility,... ORPHA:902
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... ORPHA:739
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Caudal Regression Syndrome
Ambiguous genitalia, Hypertension, Cryptorchidism ORPHA:3027
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Coach Syndrome 2
Hypertension OMIM:619111
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... ORPHA:91347
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Nephronophthisis 18
Hypertension OMIM:615862
Wagro Syndrome
Decreased testicular size, Hypertension, Hypoplastic female external genitalia OMIM:612469
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Glutaric Aciduria Iii
Hypertension OMIM:231690
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis, Ovarian neoplasm ORPHA:231632
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Hypertension, Prominent scrotal raphe, Cryptorchidism ORPHA:1555
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Igg4-Related Retroperitoneal Fibrosis
Renovascular hypertension, Large vessel vasculitis, Hydrocele testis, Hypertension, Retrograde ej... ORPHA:49041
C3 Glomerulopathy
Hypertension ORPHA:329918
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Cystic Fibrosis
Absent vas deferens ORPHA:586
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Myhre Syndrome
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... ORPHA:2588
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Cryptorchidism, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy OMIM:614052
Juvenile Paget Disease
Hypertension ORPHA:2801
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Telangiectasia of the skin, Congestive heart failure, Pulmonary arterial hypertensio... ORPHA:220393
Alstrom Syndrome
Hypergonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Irregular menst... OMIM:203800
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Bilateral cryptorchidism, Hypertension, Cerebral ischemia, Pulmonary a... OMIM:242900
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hypotension ORPHA:95613
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension, Cryptorchidism OMIM:613834
Liddle Syndrome 1
Hypertension OMIM:177200
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Heme Oxygenase 1 Deficiency
Hypertension, Epistaxis, Diffuse alveolar hemorrhage OMIM:614034
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Ovarian cyst OMIM:610475
Stiff Skin Syndrome
Hypertension ORPHA:2833
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Nephronophthisis 2
Hypertension, Pulmonary insufficiency OMIM:602088
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Renal Hypoplasia, Bilateral
Hypertension, Cryptorchidism ORPHA:97362
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:617021
Adrenocortical Carcinoma
Hypertension, Abnormality of reproductive system physiology, Palpitations ORPHA:1501
Monosomy 18P
Hypertension ORPHA:1598
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis ORPHA:494424
Alagille Syndrome
Hypertension, Telangiectasia of the skin, Cryptorchidism ORPHA:52
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Secondary amenorrhea OMIM:610489
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Nephroblastoma
Hypertension ORPHA:654
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Pediatric-Onset Graves Disease
Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia ORPHA:525731
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block, Premature thelarche, Polycystic ovaries ORPHA:371428
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Hypertension, Increased blood pressure, Micropenis OMIM:619487
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... ORPHA:183
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Oligomenorrhea OMIM:219090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Primary Unilateral Adrenal Hyperplasia
Hypertension, Palpitations, Epistaxis ORPHA:231580
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypertension, Hypogonadism, Vaginal atresia, Micropenis, Decreased test... OMIM:209900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hypertension, Pulmonary embolism ORPHA:567546
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Impotence, Hypotension ORPHA:93256
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Cockayne Syndrome Type 1
Hypertension, Male hypogonadism, Cryptorchidism ORPHA:90321
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Sickle Cell Disease
Hypertension, Priapism OMIM:603903
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hypoplastic labia majora, Hypertension, Prominent scrotal raphe OMIM:123790
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension, Polycystic ovaries ORPHA:79086
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Hypertension, Epididymal cyst OMIM:193300
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction OMIM:208000
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Epididymitis, Hemop... ORPHA:99827
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hypertension, Irregular menstruation, Abnormal libido ORPHA:189427
Xfe Progeroid Syndrome
Hypertension, Premature ovarian insufficiency OMIM:610965
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:615474
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Alkaptonuria
Hypertension, Prostatitis, Myocardial infarction ORPHA:56
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Overlap Myositis
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension ORPHA:206572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Testicular neoplasm ORPHA:199244
Hallermann-Streiff Syndrome
Cryptorchidism, Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Reduced sperm motility ORPHA:730
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension OMIM:612926
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction OMIM:208060
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Palpitations OMIM:171400
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Alexander Disease
Hypotension, Hypertension, Precocious puberty, Sudden cardiac death ORPHA:58
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
Arterial Tortuosity Syndrome
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Nephronophthisis 1
Hypertension OMIM:256100
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Spondyloenchondrodysplasia
Raynaud phenomenon, Hypertension, Vasculitis ORPHA:1855
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... ORPHA:91387
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Hypertension, Pulmon... OMIM:602535
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Wide penis, Long penis, Hypertension, Mitral regurgi... ORPHA:963
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hypertensive crisis ORPHA:1358
Cockayne Syndrome A
Cryptorchidism, Irregular menstruation, Micropenis, Hypertension, Hypogonadism, Arrhythmia OMIM:216400
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Mi... OMIM:270400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Nestor-Guillermo Progeria Syndrome
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... OMIM:614008
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Livedoid Vasculopathy
Telangiectasia of the skin, Hypertension, Ischemic stroke ORPHA:542643
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Au-Kline Syndrome
Hypertension, Cryptorchidism OMIM:616580
Postinfectious Vasculitis
Cerebral vasculitis, Raynaud phenomenon, Orchitis, Cardiomyopathy, Hypertension, Ischemic stroke,... ORPHA:48435
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hypertension, Portal hypertension OMIM:263200
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Hypergonadotropic hypogonadism, Oligomenorrhea ORPHA:79443
Lipodystrophy, Familial Partial, Type 2
Hypertension, Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal libido, Priapism ORPHA:139417
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Irregular menstruation, Polycystic ovaries, Hypertension, Pulmonary venous hypertensio... ORPHA:79259
Hurler Syndrome
Cardiomyopathy, Hypertension, Angina pectoris ORPHA:93473
Alport Syndrome
Hypertension, Clitoral hypertrophy ORPHA:63
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... ORPHA:363618
Renal Hypoplasia
Hypertension ORPHA:93101
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral regurgitation, Hypospadias OMIM:611962
Somatomammotropinoma
Hypogonadotropic hypogonadism, Dysmenorrhea, Hypertension, Mitral regurgitation, Impotence, Hyper... ORPHA:314769
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Hypertension ORPHA:90041
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Cockayne Syndrome B
Cryptorchidism, Hypertension, Arrhythmia, Micropenis OMIM:133540
Cushing Disease
Myocardial infarction, Secondary amenorrhea, Hypertension, Capillary fragility, Oligomenorrhea, A... ORPHA:96253
Atypical Werner Syndrome
Premature ovarian insufficiency, Telangiectasia of the skin, Congestive heart failure, Decreased ... ORPHA:79474
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Papillorenal Syndrome
Hypertension OMIM:120330
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur ORPHA:402075
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Renovascular hypertension, Hypoplastic labia majora, Hypertension, C... ORPHA:3472
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Vasculitis, Dilated cardiomyopathy, Hypertension OMIM:615688
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Posterior Urethral Valve
Hypertension ORPHA:93110
Myhre Syndrome
Hypertension, Aortic valve stenosis, Cryptorchidism OMIM:139210
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension OMIM:612780
Oligomeganephronia
Hypertension ORPHA:2260
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99228
Monosomy X
Prolonged QT interval, Premature ovarian insufficiency, Female infertility, Myocardial infarction... ORPHA:99226
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Orofaciodigital Syndrome I
Hypertension, Ovarian cyst OMIM:311200
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Adams-Oliver Syndrome 1
Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Imperfor... OMIM:100300
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy OMIM:615846
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Hematemesis, Melena, Hypertension, Impotence, Decreased male libido, Ameno... ORPHA:652
Cockayne Syndrome
Hypertension, Retinal hemorrhage, Cryptorchidism ORPHA:191
Glycogen Storage Disease Ib
Hypertension OMIM:232220
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Sudden cardiac death, Myocardial infarction, ... ORPHA:904
Neurofibromatosis Type 1
Precocious puberty, Hypertension, Cryptorchidism ORPHA:636
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Oligozoospermia, Telangiectasia, Azoospermia ORPHA:125
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hypertension, Impotence, Budd-Chiari syndrome ORPHA:447
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hypertensive crisis ORPHA:544482
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension OMIM:266920
Glycogen Storage Disease Ic
Hypertension, Pulmonary arterial hypertension, Spider hemangioma OMIM:232240
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Immunodeficiency 87 And Autoimmunity
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... OMIM:619573
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Micropenis, Cryptorchidism OMIM:210710
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217085
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypospadias, Cryptorchidism, Abnormality of the uterus, Corneal neov... ORPHA:567
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension OMIM:617913
Cushing Syndrome Due To Ectopic Acth Secretion
Myocardial infarction, Secondary amenorrhea, Hypertension, Capillary fragility, Prostate cancer, ... ORPHA:99889
Renal Dysplasia
Hypertension, Vesicovaginal fistula ORPHA:93108
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217093
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Arima Syndrome
Hypertension OMIM:243910
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Mucopolysaccharidosis Type 2
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:580
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertension, Mitral regurgitation, Hypospadias, Hypertrophic cardiomyopathy OMIM:220111
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Hardikar Syndrome
Hematemesis, Hypertension, Portal hypertension OMIM:301068
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Hypertension, Pulmonic... ORPHA:97685
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Vesicovaginal fistula OMIM:300896
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension ORPHA:731
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Hypospadias, Corneal neovascularization, Cryptorchidism OMIM:308205
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cryptorchidism, Cystocele, Re... ORPHA:286
Neurofibromatosis, Type I
Hypertension OMIM:162200
Blau Syndrome
Hypertension, Pericarditis, Pulmonary arterial hypertension, Large vessel vasculitis ORPHA:90340
Lipodystrophy, Familial Partial, Type 7
Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension OMIM:606721
Williams-Beuren Syndrome
Portal hypertension, Hypertension, Mitral regurgitation, Pulmonic stenosis, Micropenis, Supravalv... OMIM:194050
Bartter Syndrome Type 4
Hypertension ORPHA:89938
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Hypogonadism, Pulmonic stenosis, Hypertrophic card... OMIM:163950
Alström Syndrome
Precocious puberty in females, Hypergonadotropic hypogonadism, Portal hypertension, Testicular fi... ORPHA:64
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... ORPHA:51608
Cystic Fibrosis
Male infertility OMIM:219700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for P2rx1

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 P2rx1.

No publications found that use IMPC mice or data for P2rx1.

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
P2rx1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
P2rx1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
P2rx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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