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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
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
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Abnormal internal... ORPHA:755
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Oligozoospermia, Infertility, Hypertension, Myocardial inf... OMIM:615703
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility, Decreased testicular size OMIM:618086
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Hypogonadotropic h... OMIM:602390
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Young Syndrome
Azoospermia OMIM:279000
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size, Decreased female lib... ORPHA:52901
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Hypertension, Primary amenorrhea OMIM:202110
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction OMIM:608320
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Infertility, Oligomenorrhea, Polycystic ovaries ORPHA:280356
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased testicular size, Azoospermia, Ischemic stroke, Cerebral hemorrh... ORPHA:280679
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Ischemic stroke, Impotence, Raynaud phenomenon OMIM:615750
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Denys-Drash Syndrome
Male pseudohermaphroditism, Hypertension, Gonadal dysgenesis ORPHA:220
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Frasier Syndrome
Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, Gonadal dysgenesis with fema... ORPHA:347
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Renal Agenesis
Hypertension, Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... ORPHA:251510
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Azoospermia, Telangiectasia, Hypogonadotropic hypogonad... OMIM:235200
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Senior-Loken Syndrome
Premature ovarian insufficiency, Hypertension ORPHA:3156
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Syncope, Hypertension ORPHA:2073
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Cryptorch... ORPHA:432
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Hypotension, Abnormal labia majora morphology, Decreased testicular size, A... ORPHA:90791
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Hypertension OMIM:615962
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea OMIM:613877
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Infertility ORPHA:1445
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
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:308700
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Polycystic ovaries ORPHA:79084
Potocki-Shaffer Syndrome
Micropenis, Hypertension ORPHA:52022
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Cryptorchidism, Infertility, Hypoplasia of penis, Hypergo... ORPHA:10
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Decreased testicular size, Azoospermia, Cerebral hemorrhage, Hypertension... OMIM:300845
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Hypertension, Primary amenorrhea OMIM:191830
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Ganglioneuroma
Hypertension, Gastrointestinal hemorrhage, Abnormal prostate morphology ORPHA:251992
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:99330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Hypertension, Cardiomyopathy OMIM:102200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Cryptorchidism ORPHA:1192
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Riboflavin Transporter Deficiency
Hypogonadism, Hypertension ORPHA:97229
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Hypertension OMIM:615238
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia... ORPHA:90795
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
48,Xxxy Syndrome
Small scrotum, Pulmonary embolism, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorc... ORPHA:96263
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Hypertension, Oligomenorrhea, Primary amenorrhea OMIM:604367
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypospadias OMIM:201910
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Papillary cystadenoma of the epididymis, Hypospadias, Bicornuate uterus ORPHA:93111
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp... ORPHA:786
49,Xxxxy Syndrome
Small scrotum, Pulmonary embolism, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorc... ORPHA:96264
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Hypotension, Hypertrophic cardiomyopathy, Azoospermia,... ORPHA:361
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ochoa Syndrome
Hypertension, Cryptorchidism ORPHA:2704
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Polycystic ovaries, Dysmenorrhea, Oligomen... ORPHA:79083
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri... ORPHA:3287
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Tachycardia, Hypertension OMIM:613870
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Polycystic ova... ORPHA:275555
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Oligozoospermia, Abnormal te... ORPHA:85450
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Amyloidosis, Hereditary Systemic 2
Hypertension OMIM:105200
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Werner Syndrome
Congestive heart failure, Hypogonadism, Decreased fertility, Myocardial infarction, Telangiectasi... ORPHA:902
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Cerebral hemorrhage, Lacunar strok... ORPHA:136
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla... ORPHA:2232
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation OMIM:301080
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Hypogonadism, Decreased testicular size, External genital hypo... ORPHA:739
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Facial telangiectasia, Abnormal cardiovascu... ORPHA:168569
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage ORPHA:231160
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... ORPHA:79239
Coach Syndrome 2
Hypertension OMIM:619111
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis ORPHA:251066
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Ectopic Aldosterone-Producing Tumor
Epistaxis, Ovarian neoplasm, Hypertension ORPHA:231632
Tsh-Secreting Pituitary Adenoma
Irregular menstruation, Male hypogonadism, Hypotension, Congestive heart failure, Abnormality of ... ORPHA:91347
Nephronophthisis 18
Hypertension OMIM:615862
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Glutaric Aciduria Iii
Hypertension OMIM:231690
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
C3 Glomerulopathy
Hypertension ORPHA:329918
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Budd-Chiari syndrome, Large vessel vasculitis, Hypertension, Retrograde ejaculation, ... ORPHA:49041
Developmental And Epileptic Encephalopathy 111
Hypertension, Premature ventricular contraction, Sinus tachycardia, Cryptorchidism OMIM:620504
Liddle Syndrome 2
Hypertension OMIM:618114
Liddle Syndrome 3
Hypertension OMIM:618126
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... ORPHA:220393
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pituitary Apoplexy
Hypotension, Impotence, Oligomenorrhea, Hypertension, Hypergonadotropic hypogonadism ORPHA:95613
Myhre Syndrome
Abnormal penis morphology, Precocious puberty, Hypogonadism, External genital hypoplasia, Cryptor... ORPHA:2588
Caudal Regression Syndrome
Ambiguous genitalia, Hypertension, Cryptorchidism ORPHA:3027
Juvenile Paget Disease
Hypertension ORPHA:2801
Stiff Skin Syndrome
Hypertension ORPHA:2833
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Azoospermia, Decreased fertility in fema... OMIM:210900
Liddle Syndrome 1
Hypertension OMIM:177200
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Ovarian cyst OMIM:610475
Adrenocortical Carcinoma
Palpitations, Hypertension, Abnormality of reproductive system physiology ORPHA:1501
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Myocardial infarction OMIM:618620
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Hypertension, Cryptorchidism, Prominent scrotal raphe ORPHA:1555
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Hypertension OMIM:614034
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Secondary amenorrhea OMIM:610489
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Wagro Syndrome
Decreased testicular size, Hypoplastic female external genitalia, Hypertension OMIM:612469
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:617021
Monosomy 18P
Hypertension ORPHA:1598
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten... OMIM:230800
Alopecia Universalis
Hypertension ORPHA:701
Nephronophthisis 2
Pulmonary insufficiency, Hypertension OMIM:602088
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M... OMIM:301500
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... ORPHA:95699
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypert... OMIM:242900
Nephroblastoma
Hypertension ORPHA:654
Bloom Syndrome
Azoospermia, Telangiectasia, Oligozoospermia, Premature ovarian insufficiency, Male infertility ORPHA:125
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension OMIM:617763
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Cryptorchidism, Hypertension, Arrhythmia, Hypospadias OMIM:614052
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Atrioventricular block, Hypertension, Polycystic ovaries ORPHA:371428
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Infant Botulism
Cardiac arrest, Hypotension, Hypertension ORPHA:178478
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp... ORPHA:183
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Oligomenorrhea OMIM:219090
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Sickle Cell Disease
Hypertension, Priapism OMIM:603903
Extracranial Carotid Artery Aneurysm
Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension ORPHA:494424
Aicardi-Goutieres Syndrome 9
Portal hypertension, Micropenis, Hypertension, Increased blood pressure, Pericarditis OMIM:619487
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Facial telangiectasia, Pulmonic stenosis, Pulmonary arterial hypertension, Micropeni... OMIM:602782
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension, Impotence ORPHA:93256
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension ORPHA:231580
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Vaginal atresia, Micropenis, H... OMIM:209900
Cockayne Syndrome Type 1
Male hypogonadism, Hypertension, Cryptorchidism ORPHA:90321
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar... ORPHA:1830
Fanconi Anemia
Abnormality of the uterus, Hypogonadism, Hypertrophic cardiomyopathy, Azoospermia, Cryptorchidism... ORPHA:84
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Re... ORPHA:247691
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Alagille Syndrome
Telangiectasia of the skin, Hypertension, Cryptorchidism ORPHA:52
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Renal Hypoplasia, Bilateral
Hypertension, Cryptorchidism ORPHA:97362
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Priapism, Congestive heart failure, Bundle branch block, Car... ORPHA:466677
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Hypertension OMIM:123790
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension, Cryptorchidism OMIM:613834
Acquired Generalized Lipodystrophy
Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy, Polycystic ovaries ORPHA:79086
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Hypertension OMIM:610965
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su... ORPHA:2299
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Telangiectasia of the s... ORPHA:758
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Hypertension, Abnormal libido ORPHA:189427
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis, Hypertension OMIM:193300
Von Hippel-Lindau Disease
Cardiomyopathy, Abnormal left ventricular function, Palpitations, Arrhythmia, Myocarditis, Epidid... ORPHA:892
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure OMIM:208000
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Crimean-Congo Hemorrhagic Fever
Tachycardia, Epididymitis, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperi... ORPHA:99827
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block OMIM:615474
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Raynaud phenomenon, Hypertensi... ORPHA:91139
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hydrocele testis, Pulmonary embolism ORPHA:567546
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Reduced sperm motility ORPHA:730
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ... ORPHA:3342
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Overlap Myositis
Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon ORPHA:206572
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
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction OMIM:208060
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Alexander Disease
Precocious puberty, Hypotension, Sudden cardiac death, Hypertension ORPHA:58
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension ORPHA:2912
Alstrom Syndrome
Irregular menstruation, Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypergona... OMIM:203800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper... OMIM:208050
Apert Syndrome
Ovarian neoplasm, Hypertension ORPHA:87
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Nephronophthisis 1
Hypertension OMIM:256100
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Hallermann-Streiff Syndrome
Telangiectasia, Pulmonary arterial hypertension, Hypertension, Cryptorchidism OMIM:234100
Acromegaly
Long penis, Hypertrophic cardiomyopathy, Wide penis, Mitral regurgitation, Dysmenorrhea, Hyperten... ORPHA:963
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi... OMIM:614008
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction OMIM:615812
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Cockayne Syndrome A
Irregular menstruation, Hypogonadism, Cryptorchidism, Arrhythmia, Micropenis, Hypertension OMIM:216400
Spondyloenchondrodysplasia
Vasculitis, Hypertension, Raynaud phenomenon ORPHA:1855
Familial Dysautonomia
Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm... ORPHA:91387
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Acute Transverse Myelitis
Priapism, Subarachnoid hemorrhage, Orthostatic hypotension, Abnormal libido, Hypertension ORPHA:139417
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hypertensive crisis ORPHA:1358
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Portal hypertension, Hematemesis OMIM:263200
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Epistaxis, Pulmonary venous hypertension, Polycystic ovaries, Hypertensio... ORPHA:79259
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypog... ORPHA:110
Livedoid Vasculopathy
Telangiectasia of the skin, Ischemic stroke, Hypertension ORPHA:542643
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases... OMIM:600376
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Alkaptonuria
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Prostatitis, Hypertension, Myocardi... ORPHA:56
Postinfectious Vasculitis
Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Orchitis, Raynaud phenomenon, Vasculitis in... ORPHA:48435
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Pulmonary arterial h... OMIM:602535
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypertension, Polycystic ovaries OMIM:151660
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Alport Syndrome
Clitoral hypertrophy, Hypertension ORPHA:63
Somatomammotropinoma
Hypertrophic cardiomyopathy, Mitral regurgitation, Dysmenorrhea, Hypertension, Hypogonadotropic h... ORPHA:314769
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Bifid scrotum, Hypertrophic cardiomyopathy, Septate vagina, Cr... OMIM:270400
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Oligomenorrhea, Hypergonadotropic hypogonadism, Hypertension ORPHA:79443
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy ORPHA:93473
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Testicular neoplasm ORPHA:199244
Gaisböck Syndrome
Elevated diastolic blood pressure, Angina pectoris, Hypertension, Myocardial infarction, Hypovolemia ORPHA:90041
Renal Hypoplasia
Hypertension ORPHA:93101
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Left ventricular systolic dysfunct... ORPHA:740
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Intracranial hemorrhage, H... ORPHA:363618
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype... ORPHA:394
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Cushing Disease
Capillary fragility, Amenorrhea, Myocardial infarction, Oligomenorrhea, Abnormal libido, Hyperten... ORPHA:96253
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Mitral regurgitation, Hypertension OMIM:611962
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval OMIM:614947
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Multicystic Dysplastic Kidney
Hypertension, Cryptorchidism ORPHA:1851
Oculocerebrorenal Syndrome Of Lowe
Azoospermia, Cryptorchidism ORPHA:534
Atypical Werner Syndrome
Aortic valve stenosis, Congestive heart failure, Hypogonadism, Decreased fertility, Telangiectasi... ORPHA:79474
Neuroblastoma
Hypertension ORPHA:635
Au-Kline Syndrome
Hypertension, Cryptorchidism OMIM:616580
Papillorenal Syndrome
Hypertension OMIM:120330
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension ORPHA:402075
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis ORPHA:2072
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hypertension OMIM:615688
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Cockayne Syndrome B
Micropenis, Arrhythmia, Hypertension, Cryptorchidism OMIM:133540
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Posterior Urethral Valve
Hypertension ORPHA:93110
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension OMIM:612780
Oligomeganephronia
Hypertension ORPHA:2260
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Primary amen... ORPHA:99226
Orofaciodigital Syndrome I
Hypertension, Ovarian cyst OMIM:311200
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Cryptorchidism, Hypertension, Hypoplastic labia majora, Pul... ORPHA:3472
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hematemesis, Hypertension OMIM:615846
Myhre Syndrome
Aortic valve stenosis, Hypertension, Cryptorchidism OMIM:139210
Adams-Oliver Syndrome 1