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 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 4
Azoospermia OMIM:270960
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Hypertension, Essential
Elevated diastolic blood pressure, Elevated mean arterial pressure, Elevated systolic blood pressure OMIM:145500
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Primary amenorrhea, Female hypogonadism, Cr... ORPHA:755
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
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Morbid Obesity And Spermatogenic Failure
Infertility, Congestive heart failure, Azoospermia, Myocardial infarction, Oligospermia, Hyperten... OMIM:615703
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614897
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Congestive heart ... OMIM:602390
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size OMIM:229070
Young Syndrome
Azoospermia OMIM:279000
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Hypop... OMIM:614837
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Impotence, Hypertension, Ischemic stroke OMIM:615750
Glucocorticoid Resistance, Generalized
Infertility, Irregular menstruation, Hypertension OMIM:615962
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Hypertension OMIM:202110
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Premature ovarian insufficiency, Hypoplasia of the ovary, Decrea... OMIM:612885
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Infertility, Hypertension, Oligomenorrhea ORPHA:280356
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Azoospermia, Hypertension, Cerebral hemorrhage, Hypergonadotropic hypogon... ORPHA:280679
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Denys-Drash Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis, Hypertension ORPHA:220
Paragangliomas 6
Hypertension OMIM:618464
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Male pseudoh... ORPHA:347
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Congestive heart failure, Gonadal tissue inappropriate for exte... ORPHA:261519
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Arrhythmia, Azoospermia, Congestive heart failure, Tes... OMIM:235200
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Renal Agenesis
Aplasia/hypoplasia of the uterus, Hypertension, Absent vas deferens ORPHA:411709
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility OMIM:618300
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
47,Xyy Syndrome
Varicocele, Azoospermia, Micropenis, Cryptorchidism, Oligospermia, Macroorchidism, Male infertili... ORPHA:8
Senior-Loken Syndrome
Premature ovarian insufficiency, Hypertension ORPHA:3156
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypertrophic cardiomyopathy, Hypertension ORPHA:1345
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, True hermaphroditism, Sex reversal, Bicornuate uterus, Hypospadias, Clito... OMIM:400045
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea OMIM:613877
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal labia majora morphology, Azoospermia, Cryptorchidism, Hypotension, Ambiguous genitalia, ... ORPHA:90791
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Amenorrhea ORPHA:1445
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Polycystic ova... ORPHA:275555
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Azoospermia, Cerebral hemorrhage, Hypergonadotropic hypogonadism, Decreas... OMIM:300845
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
48,Xyyy Syndrome
Azoospermia, Male hypogonadism ORPHA:99329
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Polycystic ovaries ORPHA:79084
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Oligospermia, Precocious puberty OMIM:300200
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Telangiectases producing 'marbled' skin, Hypertension OMIM:206570
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Potocki-Shaffer Syndrome
Micropenis, Hypertension ORPHA:52022
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
48,Xxyy Syndrome
Infertility, Azoospermia, Cryptorchidism, Hypoplasia of penis, Hypergonadotropic hypogonadism, De... ORPHA:10
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, Testicular atrophy, Decre... OMIM:308700
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension OMIM:605711
Liddle Syndrome 3
Hypertension OMIM:618126
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormal prostate morphology ORPHA:251992
Renal Hypodysplasia/Aplasia 1
Hypertension, Bicornuate uterus, Primary amenorrhea, Vaginal atresia OMIM:191830
49,Xyyyy Syndrome
Abnormality of the testis size, Azoospermia, External genital hypoplasia, Male hypogonadism, Decr... ORPHA:99330
Familial Cervical Artery Dissection
Transient ischemic attack, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent ce... ORPHA:36382
Liddle Syndrome
Cerebral ischemia, Hypertension, Arrhythmia ORPHA:526
Denys-Drash Syndrome
Ovarian gonadoblastoma, True hermaphroditism, Ambiguous genitalia, female, Male pseudohermaphrodi... OMIM:194080
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Irregular menstruation, Primary amenorrhea, Precocious puberty in females,... ORPHA:90793
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Congestive heart ... OMIM:540000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypospadias OMIM:201910
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, Epispadias, Ambig... ORPHA:1772
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospadias, ... OMIM:137920
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Irregular menstruation, Hypertension OMIM:102200
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Hypertension ORPHA:1192
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism ORPHA:97229
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Hypertension ORPHA:2704
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:268500
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Hypertension OMIM:615238
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
48,Xxxy Syndrome
Infertility, Small scrotum, Azoospermia, Cryptorchidism, Pulmonary embolism, Hypoplasia of penis,... ORPHA:96263
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypertension, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Arrhythmia OMIM:617021
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Premature pubarche, Polycystic ovaries, Testicular adrenal rest tumor, Am... ORPHA:90795
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligospermia, Precocious puberty, Hypertension, Female pseudohermaphroditism, Ambigu... ORPHA:786
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Polycystic ovaries, Primary amenorrhea, Hypertension, Oligomenorrhea OMIM:604367
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
49,Xxxxy Syndrome
Infertility, Small scrotum, Azoospermia, Cryptorchidism, Pulmonary embolism, Hypoplasia of penis,... ORPHA:96264
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Papillary cystadenoma of the epididymis, Hypospadias, Absent vas deferens ORPHA:93111
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Primary Lipodystrophy
Menometrorrhagia, Polycystic ovaries, Congestive heart failure, Hypertension, Cardiomyopathy, Ang... ORPHA:90970
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Micropenis, Tachycardia, Hypertension OMIM:613870
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure OMIM:208000
Takayasu Arteritis
Hypertrophic cardiomyopathy, Myocardial infarction, Hypertensive crisis, Pulmonary arterial hyper... ORPHA:3287
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Azoospermia, Cryptorchidism, Hypertrophic cardiomyopathy, Hypotens... ORPHA:361
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Congestive heart failure, Hypertrophic card... ORPHA:79083
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Primary testicular failure, Oligospermia, ... ORPHA:85450
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Bloom Syndrome
Decreased fertility in females, Facial telangiectasia in butterfly midface distribution, Cryptorc... OMIM:210900
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension OMIM:605115
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Hypertension OMIM:613355
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ce... ORPHA:31825
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Hypertension OMIM:133100
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Non-obstructive azoospermia, Aplasia/hypoplasia ... ORPHA:2232
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral ischemia, Hypertension, Lacunar stroke, Cerebral hemorrhage, ... ORPHA:136
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Restrictive cardiomyop... OMIM:264800
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Hypertension, Pericarditis ORPHA:767
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Lipodystrophy, Familial Partial, Type 1
Hypertension OMIM:608600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Long penis, Ambiguous genitalia, female, Hypertension, Precocious puber... OMIM:202010
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Hyper... ORPHA:330015
H Syndrome
Amenorrhea, Azoospermia, Micropenis, Abnormal cardiovascular system physiology, Facial telangiect... ORPHA:168569
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Hypoplasia of penis, Hypogonadism ORPHA:251066
Prader-Willi Syndrome
Hypoplastic labia majora, Infertility, Small scrotum, Primary amenorrhea, Premature pubarche, Cry... ORPHA:739
Tsh-Secreting Pituitary Adenoma
Decreased fertility in females, Infertility, Irregular menstruation, Female hypogonadism, Decreas... ORPHA:91347
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Arrhythmia, Hypotension, Hypertension, Hypogonadism ORPHA:442
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:94080
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Familial Cerebral Saccular Aneurysm
Subarachnoid hemorrhage, Transient ischemic attack, Intracranial hemorrhage, Hypertension ORPHA:231160
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Hypertension OMIM:173900
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
Glutaric Aciduria Iii
Hypertension OMIM:231690
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary arterial hyper... OMIM:178600
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Coach Syndrome 2
Hypertension OMIM:619111
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Lipodystrophy, Familial Partial, Type 6
Hypertension OMIM:615980
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis, Ovarian neoplasm ORPHA:231632
Liddle Syndrome 2
Hypertension OMIM:618114
Hyperaldosteronism, Familial, Type I
Hypertension OMIM:103900
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension ORPHA:363400
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Hypertension, Epistaxis ORPHA:251274
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pulmonary arterial hypertension, Hypertension OMIM:608406
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Hypertension OMIM:613623
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Werner Syndrome
Congestive heart failure, Aplasia/Hypoplasia of the testes, Myocardial infarction, Miscarriage, O... ORPHA:902
C3 Glomerulopathy
Hypertension ORPHA:329918
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Retrograde ejaculation, Impotence, Hypertension, Renovascular hypertension, Budd-Chia... ORPHA:49041
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Polycythemia Vera
Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Hypertension, Budd-Chiari s... ORPHA:729
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Pituitary Apoplexy
Hypotension, Impotence, Hypertension, Hypergonadotropic hypogonadism, Oligomenorrhea ORPHA:95613
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Caudal Regression Syndrome
Cryptorchidism, Ambiguous genitalia, Hypertension ORPHA:3027
Alstrom Syndrome
Dilated cardiomyopathy, Irregular menstruation, Congestive heart failure, Hypertension, Hypergona... OMIM:203800
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Juvenile Paget Disease
Hypertension ORPHA:2801
Myhre Syndrome
Abnormal penis morphology, Cryptorchidism, External genital hypoplasia, Precocious puberty, Hyper... ORPHA:2588
Heme Oxygenase 1 Deficiency
Hypertension, Diffuse alveolar hemorrhage, Epistaxis OMIM:614034
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension OMIM:613320
Sickle Cell Anemia
Priapism, Hypertension OMIM:603903
Pseudohypoaldosteronism, Type Iic
Hypertension OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension OMIM:614496
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Left anterior fascicular block, Heart murmur, Hyp... ORPHA:437572
Pigmented Nodular Adrenocortical Disease, Primary, 1
Secondary amenorrhea, Hypertension OMIM:610489
Stiff Skin Syndrome
Hypertension ORPHA:2833
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Vaginal atresia, Hypertension, Hypogonadism, Decreased test... OMIM:209900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Intracranial... ORPHA:369929
Monosomy 18P
Hypertension ORPHA:1598
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Adrenocortical Carcinoma
Palpitations, Abnormality of reproductive system physiology, Hypertension ORPHA:1501
Extracranial Carotid Artery Aneurysm
Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:494424
Joubert Syndrome 14
Hypertension OMIM:614424
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Transient ischemic attack, Hypertens... OMIM:301500
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Cryptorchidism, Hypertrophic cardiomyopathy, Hypertension, Hypospadias OMIM:614052
Gaucher Disease, Type I
Pulmonary arterial hypertension, Hypertension, Mitral regurgitation, Aortic valve stenosis, Epist... OMIM:230800
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hypertension, Prominent scrotal raphe, Bifid scrotum ORPHA:1555
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Nephroblastoma
Hypertension ORPHA:654
Nephronophthisis 2
Hypertension, Pulmonary insufficiency OMIM:602088
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension OMIM:615812
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Atrial fibrillation, Hypertension, Palpitations ORPHA:525731
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Liddle Syndrome 1
Hypertension OMIM:177200
Bloom Syndrome
Azoospermia, Telangiectasia, Oligospermia, Male infertility, Premature ovarian insufficiency ORPHA:125
Beare-Stevenson Cutis Gyrata Syndrome
Hypoplastic labia majora, Hypertension, Prominent scrotal raphe, Bifid scrotum OMIM:123790
Aicardi-Goutieres Syndrome 9
Portal hypertension, Micropenis, Hypertension, Increased blood pressure, Pericarditis OMIM:619487
Primary Pigmented Nodular Adrenocortical Disease
Abnormal libido, Testicular neoplasm, Irregular menstruation, Hypertension ORPHA:189439
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Congestive heart failure, Hypertrophic cardiomyopathy, Myoca... ORPHA:183
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal ovarian morphology, Primary amenorrhea, Polycystic ovaries, Cryptorchidism, Micropenis, ... ORPHA:95699
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Morgagni-Stewart-Morel Syndrome
Hypertension ORPHA:77296
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Micropenis, Hypergonadotropic hypogonadism, Pulmonic stenosis, Pulmonary arterial hy... OMIM:602782
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Impotence, Hypertension ORPHA:93256
Apparent Mineralocorticoid Excess
Hypertension OMIM:218030
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Oligomenorrhea OMIM:219090
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Hypertension, Polycystic ovaries, Atrioventricular block ORPHA:371428
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Renal Hypoplasia
Urethral valve, Hypertension ORPHA:93101
Fanconi Anemia
Absent testis, Azoospermia, Cryptorchidism, Hypertrophic cardiomyopathy, Decreased fertility in m... ORPHA:84
Buschke-Ollendorff Syndrome
Hypertension ORPHA:1306
Primary Unilateral Adrenal Hyperplasia
Palpitations, Hypertension, Epistaxis ORPHA:231580
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension OMIM:618620
Porphyria
Hypertension ORPHA:738
Schimke Immunoosseous Dysplasia
Cerebral ischemia, Transient ischemic attack, Hypertension OMIM:242900
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Telangiectasia, Retinal neovascularization, Hypertension, Cardiomyop... ORPHA:247691
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension OMIM:615954
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abnormal libido, Irregular menstruation, Hypertension ORPHA:189427
Alagille Syndrome
Cryptorchidism, Telangiectasia of the skin, Hypertension ORPHA:52
Posterior Urethral Valve
Hypertension, Congenital posterior urethral valve, Urethral stenosis ORPHA:93110
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Pulmonary arterial hypertension, Transient ischemic attack, Hypertensio... ORPHA:1830
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Hypertension ORPHA:90321
Scorpion Envenomation
Priapism, Premature ventricular contraction, Arrhythmia, Congestive heart failure, T-wave inversi... ORPHA:466677
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis, Hypertension OMIM:193300
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension, Polycystic ovaries ORPHA:79086
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension OMIM:618886
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Epididymitis, Hypertension, Hematemesis, Subdura... ORPHA:99827
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension OMIM:615830
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Hypertension OMIM:610965
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:276621
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Ventricular arrhyth... ORPHA:90068
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis, Arrhythmia, Abnormal left ventricular f... ORPHA:892
Coach Syndrome 1
Portal hypertension, Hypertension OMIM:216360
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Congestive heart failure, Myocardial infarction, Vasculitis, Hyperte... ORPHA:91139
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, Telangiectasia of the skin... ORPHA:758
Arterial Tortuosity Syndrome
Aortic regurgitation, Telangiectases of the cheeks, Hypertension, Aortic valve stenosis, Ischemic... OMIM:208050
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension OMIM:610475
Alkaptonuria
Prostatitis, Hypertension, Myocardial infarction ORPHA:56
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Hyperaldosteronism, Familial, Type Iii
Hypertension OMIM:613677
Aortic Arch Interruption
Systolic heart murmur, Aortic regurgitation, Congestive heart failure, Shock, Absent pulse, Right... ORPHA:2299
Ethylene Glycol Poisoning
Congestive heart failure, Hypotension, Prolonged QT interval, Atrial fibrillation, Hypertension, ... ORPHA:31826
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Reduced sperm motility ORPHA:730
Popov-Chang syndrome
Hypertension, Pulmonic stenosis OMIM:618428
Adenine Phosphoribosyltransferase Deficiency
Atrial fibrillation, Hypertension ORPHA:976
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hypertension OMIM:263200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Hypertension OMIM:615474
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension OMIM:219080
Overlap Myositis
Pulmonary arterial hypertension, Raynaud phenomenon, Hypertension ORPHA:206572
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Congestive heart... ORPHA:1359
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, 5
Hypertension OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension OMIM:612926
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Pulmonary arterial hypertension, Hypertension OMIM:613834
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension OMIM:208060
Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Gastrointestinal hemorrhage, Arrhythmia, Prostatitis, Hypert... ORPHA:900
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Hydrocele testis, Hypertension ORPHA:567546
Acromegaly
Hypogonadotropic hypogonadism, Mitral regurgitation, Dysmenorrhea, Hypertrophic cardiomyopathy, L... ORPHA:963
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure, Hypertrophic cardiomyopathy, My... ORPHA:3342
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Poliomyelitis
Hypotension, Hypovolemic shock, Hypertension ORPHA:2912
Multiple Endocrine Neoplasia, Type Iia
Palpitations, Hypertension OMIM:171400
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Bradycardia, Tach... ORPHA:94093
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Nephronophthisis 1
Hypertension OMIM:256100
Alexander Disease
Hypotension, Precocious puberty, Hypertension, Sudden cardiac death ORPHA:58
Spondyloenchondrodysplasia
Raynaud phenomenon, Vasculitis, Hypertension ORPHA:1855
Porphyria Variegata
Tachycardia, Hypertension ORPHA:79473
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Orthostatic hypotension, Hypertension OMIM:223900
Paternal Uniparental Disomy Of Chromosome 1
Hypertension ORPHA:251004
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Aortic regurgitation, Abnormal left ventricular function, Transient ischemic attack,... ORPHA:91387
Acute Transverse Myelitis
Priapism, Orthostatic hypotension, Abnormal libido, Hypertension, Subarachnoid hemorrhage ORPHA:139417
Apparent Mineralocorticoid Excess
Hypertension ORPHA:320
Cockayne Syndrome A
Irregular menstruation, Arrhythmia, Cryptorchidism, Micropenis, Hypertension, Hypogonadism OMIM:216400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension ORPHA:449291
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Shock, Hypotension, Capillary leak, Hypertension, Hematemesis, Melena... ORPHA:340
Somatomammotropinoma
Hypogonadotropic hypogonadism, Amenorrhea, Dysmenorrhea, Hypertrophic cardiomyopathy, Impotence, ... ORPHA:314769
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:29072
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Hallermann-Streiff Syndrome
Cryptorchidism, Telangiectasia, Pulmonary arterial hypertension, Hypertension OMIM:234100
Carey-Fineman-Ziter Syndrome
Hypertensive crisis, Glandular hypospadias ORPHA:1358
Livedoid Vasculopathy
Telangiectasia of the skin, Hypertension, Ischemic stroke ORPHA:542643
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Fabry Disease
Mucosal telangiectasiae, Arrhythmia, Congestive heart failure, Bundle branch block, Hypertrophic ... ORPHA:324
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension ORPHA:98808
Postinfectious Vasculitis
Vasculitis in the skin, Orchitis, Cerebral vasculitis, Hypertension, Cardiomyopathy, Raynaud phen... ORPHA:48435
Familial Dysautonomia
Tachycardia, Orthostatic hypotension, Hypertension ORPHA:1764
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Lipodystrophy, Familial Partial, Type 2
Hypertension, Labial pseudohypertrophy, Polycystic ovaries OMIM:151660
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypergonadotropic hypogonadism, Hypertension, Oligomenorrhea ORPHA:79443
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Hypertension, Mitral regurgitation, Intracranial... ORPHA:363618
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Nail bed telangiectasia, Fingerpad telangiectases, Spontaneous, recurrent epistaxis... OMIM:600376
Nelson Syndrome
Intracranial hemorrhage, Testicular neoplasm, Hypertension ORPHA:199244
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Polycystic ovaries, Menorrhagia, Hypertension, Pulmonary venous hypertens... ORPHA:79259
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Low Phospholipid-Associated Cholelithiasis
Hypertension ORPHA:69663
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Female hypogonadis... ORPHA:740
Aorta Coarctation
Pulmonary arterial hypertension, Hypertension, Congestive heart failure ORPHA:1457
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Hypertension, Cerebral ischemia, Intracranial he... ORPHA:394
Alport Syndrome
Hypertension, Clitoral hypertrophy ORPHA:63
Hurler Syndrome
Angina pectoris, Hypertension, Cardiomyopathy ORPHA:93473
Hunter-Macdonald Syndrome
Mitral regurgitation, Hypertension, Hypospadias, Aortic regurgitation OMIM:611962
Cushing Disease
Capillary fragility, Amenorrhea, Abnormal libido, Myocardial infarction, Secondary amenorrhea, Hy... ORPHA:96253
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypertension, Hypertension, Mitr... OMIM:614008
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Bilateral cryptorchidism, Premature ventricular co... OMIM:602535
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Gaisböck Syndrome
Hypovolemia, Elevated diastolic blood pressure, Myocardial infarction, Hypertension, Angina pectoris ORPHA:90041
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis ORPHA:2072
Atypical Werner Syndrome
Decreased fertility, Congestive heart failure, Ovarian neoplasm, Secondary amenorrhea, Telangiect... ORPHA:79474
Familial Bicuspid Aortic Valve
Heart murmur, Aortic valve stenosis, Hypertension, Aortic regurgitation ORPHA:402075
Fanconi Anemia, Complementation Group A
Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Oculocerebrorenal Syndrome Of Lowe
Azoospermia, Cryptorchidism ORPHA:534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Hypertension OMIM:108050
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Portal hypertension, Vasculitis, Hypertension, Raynaud phenomenon OMIM:615688
Cockayne Syndrome B
Cryptorchidism, Arrhythmia, Hypertension, Micropenis OMIM:133540
Oligomeganephronia
Hypertension ORPHA:2260
Adams-Oliver Syndrome 1
Pulmonic stenosis, Pulmonary arterial hypertension, Hypertension, Aortic valve stenosis, Imperfor... OMIM:100300
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:115310
Alport Syndrome 3, Autosomal Dominant
Hypertension OMIM:104200
Alport Syndrome 1, X-Linked
Hypertension OMIM:301050
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Orofaciodigital Syndrome I
Hypertension, Ovarian cyst OMIM:311200
Seckel Syndrome 10
Hypertension, Congestive heart failure OMIM:617253
Senior-Boichis Syndrome
Portal hypertension, Hypertension ORPHA:84081
Glycogen Storage Disease Ia
Hypertension OMIM:232200
Renal Dysplasia
Congenital posterior urethral valve, Hypertension, Vesicovaginal fistula ORPHA:93108
Yunis-Varon Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Pulmonary arterial hypertension, Renovascul... ORPHA:3472
Glycogen Storage Disease Ib
Hypertension OMIM:232220
Myhre Syndrome
Cryptorchidism, Aortic valve stenosis, Hypertension OMIM:139210
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Secondary am... ORPHA:99413
Turner Syndrome
Primary amenorrhea, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Secondary am... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Secondary am... ORPHA:99228
Monosomy X
Primary amenorrhea, Abnormality of the ovary, Myocardial infarction, Gonadoblastoma, Secondary am... ORPHA:99226
Multiple Endocrine Neoplasia Type 1
Amenorrhea, Impotence, Hematemesis, Hypertension, Decreased male libido, Melena, Shortened QT int... ORPHA:652
Williams Syndrome
Hypogonadotropic hypogonadism, Mitral regurgitation, Polycystic ovaries, Congestive heart failure... ORPHA:904
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Myocardial infarction, Impotence, Hypertension, Budd-Chiari syndrome ORPHA:447
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Scalp-Ear-Nipple Syndrome
Hypertension OMIM:181270
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Hypertension associated with pheochromocytoma, Cervical neoplasm, Palpitations ORPHA:653
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Cockayne Syndrome
Cryptorchidism, Hypertension, Retinal hemorrhage ORPHA:191
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypertension, Myocarditis ORPHA:544482
Glycogen Storage Disease Ic
Spider hemangioma, Pulmonary arterial hypertension, Hypertension OMIM:232240
Homozygous Familial Hypercholesterolemia
Abnormal left ventricular function, Sudden cardiac death, Myocardial infarction, Supravalvular ao... ORPHA:391665
Cushing Syndrome Due To Ectopic Acth Secretion
Capillary fragility, Amenorrhea, Abnormal libido, Myocardial infarction, Prostate cancer, Seconda... ORPHA:99889
Mucopolysaccharidosis Type 2, Severe Form
Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Heart murmur, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:217093
Neurofibromatosis Type 1
Cryptorchidism, Precocious puberty, Hypertension ORPHA:636
Cranioectodermal Dysplasia 2
Hypertension OMIM:613610
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Dilated cardiomyopathy, Third degree atrioventricular block, Hyp... OMIM:619573
Mucopolysaccharidosis Type 2
Cardiomyopathy, Hypertension, Arrhythmia ORPHA:580
Xq21 Microdeletion Syndrome
Hypertension ORPHA:1435
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Cryptorchidism, Abnormality of the uterus, Hypertensive crisis, Corn... ORPHA:567
Scalp-Ear-Nipple Syndrome
Hypertension ORPHA:2036
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Vesicovaginal fistula OMIM:300896
Hardikar Syndrome
Hematemesis, Portal hypertension, Hypertension OMIM:301068
Autosomal Recessive Polycystic Kidney Disease
Portal hypertension, Hypertension, Gastrointestinal hemorrhage ORPHA:731
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Pulmonary arterial hypertension, Telangiectasia o... ORPHA:97685
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Lipodystrophy, Familial Partial, Type 7
Pulmonary arterial hypertension, Orthostatic hypotension, Hypertension OMIM:606721
Williams-Beuren Syndrome
Portal hypertension, Micropenis, Supravalvular aortic stenosis, Pulmonic stenosis, Hypertension, ... OMIM:194050
Neurofibromatosis, Type I
Hypertension OMIM:162200
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Uterine prolapse, Telangiectasia of the skin, Transient ischemic attack, Renovasc... ORPHA:286
Noonan Syndrome 1
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis, Male infertility, Hypospadias, Hy... OMIM:163950
Alström Syndrome
Hyoplasia of the Leydig cells, Abnormal coronary artery physiology, Dilated cardiomyopathy, Irreg... ORPHA:64
Blau Syndrome
Pulmonary arterial hypertension, Hypertension, Large vessel vasculitis, Pericarditis ORPHA:90340
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Retinal hemorrhage, Pulmonary arterial hypertension, Trans... ORPHA:51608
Cystinosis, Nephropathic