Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chromogranin A
Synonyms:
ChrA

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 Chga 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 Chga by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Acid-Labile Subunit Deficiency
Mild postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty OMIM:615961
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Severe postnatal growth retardation, Short stature, Pituitary dwarfism, Im... OMIM:262700
Hypertension, Essential
Elevated diastolic blood pressure, Elevated systolic blood pressure, Elevated mean arterial pressure OMIM:145500
Pituitary Adenoma 1, Multiple Types
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... OMIM:102200
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... OMIM:610947
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Diabetes mellitus... OMIM:540000
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Increased circulating androgen concentration, Premature pubarche OMIM:145295
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Intrauterine growth retardation, Decreased... ORPHA:320
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Adrenogenital syndrome, Hyp... OMIM:103900
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Intrauterine growth retardation, Short stature OMIM:619025
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... OMIM:605373
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
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Abnormal circu... ORPHA:251274
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Skeletal muscle atrophy, Hypogonadism, Flex... OMIM:612079
Lipodystrophy, Familial Partial, Type 4
Hypertension, Skeletal muscle hypertrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Pituitary Gigantism
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Increased serum insulin-like growth facto... ORPHA:99725
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Calf muscle h... ORPHA:280356
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Pancreatitis, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Short stature, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced c... OMIM:262600
Morbid Obesity And Spermatogenic Failure
Hypertension, Type II diabetes mellitus, Hypercholesterolemia, Myocardial infarction, Hypertrigly... OMIM:615703
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Intrauterine growth retardation, Left ventricular hypertrophy, Postnatal growth ret... OMIM:616733
8P23.1 Duplication Syndrome
Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Pulmonic stenosis ORPHA:251076
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Growth delay, Pituitary hypothyroidism, Gonadotropin deficiency, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Growth delay, Pituitary hypothyroidism, Gonadotropin deficiency, H... ORPHA:71526
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostatic hypotension... ORPHA:556037
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Growth delay, Orthostatic hypotension, Increased circula... OMIM:610600
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Intrauterine growth retardation, Ventricular hypertrophy, Bradycardia, Left ventric... OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostatic hypotension... ORPHA:556030
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Short stature OMIM:618160
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Hypogonadotropic hypogonadism, Ab... OMIM:300200
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Central hypothyroidism, Postnatal growth retardation, Short stature OMIM:616113
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin l... OMIM:615474
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Syncope, Mitral regurgi... ORPHA:3092
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Congestive heart failure, A... ORPHA:225
Glycerol Kinase Deficiency
Myopathy, Adrenal insufficiency, Growth delay, Short stature, Muscular dystrophy, Hypertriglyceri... OMIM:307030
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... OMIM:615954
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Intrauterine growth retardation, Bradycardia OMIM:614654
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Growth delay, Short stature, Decreased cir... OMIM:218030
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Growth delay, Right ventricular hypertrophy, Pulmonary arterial hype... OMIM:268500
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Intrauterine growth retardation, Short stature, Splenomegaly... OMIM:609981
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, EMG: myopathic abnormal... OMIM:619040
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Preeclampsia/Eclampsia 1
Hypertension, Intrauterine growth retardation OMIM:189800
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Short stature, Hypergonadotropic hypog... ORPHA:280679
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Liddle Syndrome 2
Hypertension, Decreased circulating renin level OMIM:618114
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Intrauterine growth retardation, Elevated systol... ORPHA:275555
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Fabry Disease
Hypertension, Ventricular septal hypertrophy, Left ventricular hypertrophy, Myocardial infarction... OMIM:301500
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... ORPHA:404
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Aplasia of the left hemidiaphragm, Intrauterine growth retardation OMIM:618238
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Thyroiditis, Postnatal growth retard... OMIM:618985
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertension, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hypertriglyc... OMIM:608600
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism OMIM:264350
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Abnormal circulating renin, Epistaxis... ORPHA:403
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Potocki-Shaffer Syndrome
Hypertension, Delayed puberty, Hypothyroidism ORPHA:52022
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Hypertension, Skeletal muscle atrophy, Pri... OMIM:219080
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Left ventricular systolic dysfunction, C... OMIM:613156
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Type I diabetes mellitus, Short stature, Abnormal mitral valve morphology ORPHA:1192
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Growth delay, Splenomegaly, Steatorrhea, Adrenal calcification ORPHA:75233
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Hypertension, Pulmonary arterial hypertension, Atrial septal defect, Postn... OMIM:613355
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Pheochromocytoma, Palpitations, Increased circulating cortisol level, Medullary thy... OMIM:171400
Triple A Syndrome
Abnormality of the hypothenar eminence, Adrenal insufficiency, Abnormality of the calf musculatur... ORPHA:869
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Arrhythmia ORPHA:1345
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricula... ORPHA:369929
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis OMIM:619386
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:201910
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... OMIM:615830
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... ORPHA:31825
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Abnormal heart morphology, Hypothyroidism, Hypotension, Enla... ORPHA:85445
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Congenital Disorder Of Glycosylation, Type Iig
Intrauterine growth retardation, Rhizomelia, Left ventricular hypertrophy, Postnatal growth retar... OMIM:611209
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Decreased circulating aldosterone level, Adrenal insufficiency, Cong... ORPHA:361
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Leg m... ORPHA:43
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Non-Functioning Pituitary Adenoma
Increased serum testosterone level, Adrenal insufficiency, Abnormality of the pituitary gland, Ad... ORPHA:91349
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Neoplasm of the adrenal gland, Intracranial hemorrhage, Abnormal T-wave, Decreased ... ORPHA:231625
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Adrenogenital syndrome OMIM:202110
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Hepatomegaly, Primary adrenal insufficiency OMIM:617872
Ganglioneuroma
Abnormality of the adrenal glands, Hypertension, Gastrointestinal hemorrhage, Neoplasm of the adr... ORPHA:251992
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hypertension, Pericarditis, Pericardial effusion, Intrauterine growth retardation, ... OMIM:619487
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Increased circulating androstenedione concentra... ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Short stature, Pulm... OMIM:615355
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Arrhythmia OMIM:617021
Adrenomyodystrophy
Myopathy, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Skeletal myopathy, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitat... ORPHA:746
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:177200
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Ane Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Hypogonadotropic hypogonadism, Pitui... ORPHA:157954
Frasier Syndrome
Hypertension, Streak ovary, Decreased serum estradiol, Increased circulating gonadotropin level, ... ORPHA:347
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Hypercholesterolemia, Diabetes mellitus, Hypot... ORPHA:77296
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Decreased c... ORPHA:199296
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Abnormal endocardium morphology, Abnormal aortic valve... ORPHA:3287
Pediatric-Onset Graves Disease
Hepatomegaly, Hypertension, Increased circulating T4 level, Intrauterine growth retardation, Atri... ORPHA:525731
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Mitral regurgitation, Neonatal death, Left ventricular syst... OMIM:619167
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Primary Lipodystrophy
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, C... ORPHA:90970
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Myopathy, Hypertension, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Growth delay, Orthostatic hypoten... ORPHA:427
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Abnormal cardiac ventricular function, Hyperten... ORPHA:439232
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Aortic va... ORPHA:2299
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Hepatomegaly, Myopathy, M... ORPHA:79083
Lipodystrophy, Familial Partial, Type 3
Hypertension, Maternal diabetes, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyper... OMIM:604367
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Primary Pigmented Nodular Adrenocortical Disease
Proximal amyotrophy, Cardiac myxoma, Increased urinary cortisol level, Adrenal hyperplasia, Type ... ORPHA:189439
Kearns-Sayre Syndrome
Hypoparathyroidism, Ragged-red muscle fibers, Third degree atrioventricular block, Short stature,... OMIM:530000
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Riboflavin Transporter Deficiency
Hypertension, Skeletal muscle atrophy, Diabetes insipidus, Limb muscle weakness, Facial palsy, Hy... ORPHA:97229
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... ORPHA:444013
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Myocardial infarction,... OMIM:205400
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Postnatal growth retardation, Short stature OMIM:619489
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Alstrom Syndrome
Dilated cardiomyopathy, Hepatomegaly, Hypertension, Diabetes insipidus, Short stature, Insulin-re... OMIM:203800
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Proximal amyotrophy, Macronodular adrenal hyperplasia, Increased urinary cortisol level, Abnormal... ORPHA:189427
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level, Hypoten... OMIM:203400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Primary adren... OMIM:240300
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Mitral stenosis, Bicuspid pulmonary valve, Di... ORPHA:1686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Liddle Syndrome 3
Hypertension OMIM:618126
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension OMIM:605711
Fabry Disease
Hyperlipidemia, Short stature, Transient ischemic attack, Hypertrophic cardiomyopathy, Hypertensi... ORPHA:324
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Subara... ORPHA:36382
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Palpitations, Epistaxis, Gl... ORPHA:231580
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Reduced ejection fraction, Goiter, Li... ORPHA:254892
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Ectopic Aldosterone-Producing Tumor
Hypertension, Epistaxis, Decreased circulating renin level, Glucocortocoid-insensitive primary hy... ORPHA:231632
Coproporphyria, Hereditary
Hepatomegaly, Hypertension, Tachycardia, Splenomegaly OMIM:121300
Tsh-Secreting Pituitary Adenoma
Goiter, Ventricular arrhythmia, Abnormality of the pituitary gland, Elevated circulating thyroid-... ORPHA:91347
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Acquired Generalized Lipodystrophy
Hepatomegaly, Myopathy, Hypertension, Insulin-resistant diabetes mellitus, Cardiomyopathy, Abnorm... ORPHA:79086
Abdominal Obesity-Metabolic Syndrome 4
Myocardial infarction, Hypertension, Type II diabetes mellitus OMIM:618620
Nelson Syndrome
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Anterior hypopituitarism... ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... ORPHA:786
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Short stature ORPHA:2833
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Pheochromocyto... OMIM:171420
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Transient ischemic... ORPHA:136
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Congenital Hypothyroidism
Hypertension, Goiter, Short stature, Macroglossia, Hypogonadism, Abnormality of the thyroid gland... ORPHA:442
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Central hypothyroidism, Type II diabetes mellitus, Hypog... ORPHA:453533
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia OMIM:603278
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Xp21 Deletion Syndrome
Decreased muscle mass, Myopathy, Adrenal insufficiency, Growth delay, Hypogonadotropic hypogonadi... ORPHA:261476
Distal Monosomy 13Q
Short stature, Abnormal cardiac septum morphology, Primary adrenal insufficiency ORPHA:1590
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Anomalous pulmonary ve... ORPHA:860
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Short stature, Pulmonar... OMIM:608406
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Von Hippel-Lindau Disease
Myocarditis, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Pancreatic islet cell adenoma,... ORPHA:892
Adrenomyodystrophy
Myopathy, Short stature, Primary adrenal insufficiency ORPHA:977
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Growth delay, Cardiomyopathy, Left ventricular hypertrophy, Con... OMIM:242840
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Vasculitis, Arteritis, ... ORPHA:494424
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Hypoparathyroidism, Growth delay, Splenomegaly, He... ORPHA:231226
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Hypertension, Leiomyosarcoma, Tachycardia, Paragang... ORPHA:139411
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Nephrotic Syndrome, Type 14
Hypogonadism, Adrenal insufficiency, Hypertriglyceridemia, Hypothyroidism OMIM:617575
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Internal hemorrhage, Right ventricular hypertrophy, Tachycardia ORPHA:335
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... ORPHA:2965
Flynn-Aird Syndrome
Type II diabetes mellitus, Skeletal muscle atrophy, Primary adrenal insufficiency, Abnormality of... ORPHA:2047
Primary Membranoproliferative Glomerulonephritis
Myocardial infarction, Hypertension ORPHA:54370
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Stea... OMIM:278000
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension, Intrauterine growth... OMIM:613623
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Dextrotranspositi... OMIM:618619
Stiff-Person Syndrome
Hypertension, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Diab... OMIM:184850
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Tendon rupture, Mitral valve prolapse, Mitral regurgitation, Short statu... ORPHA:230851
Pituitary Apoplexy
Hypertension, Increased circulating prolactin concentration, Hypergonadotropic hypogonadism, Incr... ORPHA:95613
Bardet-Biedl Syndrome 1
Hypertension, Left ventricular hypertrophy, Hypogonadism, Nephrogenic diabetes insipidus, Diabete... OMIM:209900
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Growth delay, Sp... ORPHA:231214
Mogs-Cdg
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Cardiomegaly, Left ventricular hypert... ORPHA:79330
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Mildly reduced ejection fraction, Aortic valve ... ORPHA:99094
Senior-Loken Syndrome
Hypertension, Short stature ORPHA:3156
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Short stature, Orthostatic hypotension, Adrenocorticotro... OMIM:231550
Non-Functioning Paraganglioma
Cerebral hemorrhage, Episodic hyperhidrosis, Palpitations, Paraganglioma, Congestive heart failur... ORPHA:94080
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypogonadism... ORPHA:300298
Seckel Syndrome 10
Hypertension, Elevated circulating follicle stimulating hormone level, Ventricular hypertrophy, S... OMIM:617253
Amyloidosis, Familial Visceral
Hepatomegaly, Hypertension, Splenomegaly OMIM:105200
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Hypertension, Congestive heart failure OMIM:208000
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... ORPHA:1349
Monosomy 18P
Hypertension, Short stature, Hypothyroidism ORPHA:1598
Sneddon Syndrome
Hypertension, Intracranial hemorrhage ORPHA:820
Overlap Myositis
Hypertension, Perifascicular muscle fiber atrophy, Abnormal heart morphology, Pulmonary arterial ... ORPHA:206572
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Mucolipidosis Type Ii
Pulmonary insufficiency, Hip contracture, Mitral regurgitation, Abnormal mitral valve morphology,... ORPHA:576
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... ORPHA:90791
Beta-Thalassemia Intermedia
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Pulmonary arterial hypertension, Splenom... ORPHA:231222
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Growth delay,... ORPHA:54595
Neonatal Adrenoleukodystrophy
Short stature, Primary adrenal insufficiency ORPHA:44
Sheehan Syndrome
Central adrenal insufficiency, Abnormal size of pituitary gland, Orthostatic hypotension, Palpita... ORPHA:91355
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Androgen insufficiency, Orthostatic hypotension, Hypoten... ORPHA:95409
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Tachycardia, Atrial septal defect, Contractures of the i... OMIM:613870
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Low-output congestive heart failure, Fac... ORPHA:308552
Glucocorticoid Resistance, Generalized
Hypertension OMIM:615962
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... OMIM:616564
Schimke Immuno-Osseous Dysplasia
Hypertension, Intrauterine growth retardation, Growth delay, Hyperlipidemia, Short stature, Pulmo... ORPHA:1830
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Mitral valve prolapse, Hyperthyroidism, Diabetes mellitus, Hypothyroidism ORPHA:449291
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Hypertension, Short stature, Xerostomia, P... ORPHA:739
Pseudohypoaldosteronism Type 2
Hypertension, Growth delay, Short stature ORPHA:757
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... ORPHA:1457
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Hypertension, Growth delay, Mitral regurgitation, Short stature, Pulmona... OMIM:614008
Glycogen Storage Disease Ia
Decreased muscle mass, Hepatomegaly, Hypertension, Hyperlipidemia, Short stature, Pancreatitis, X... OMIM:232200
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hashimoto th... ORPHA:85138
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Hypertension, Skeletal muscle hypertrophy, Insulin-resistant diabetes mellitus, Hyp... OMIM:151660
Postorgasmic Illness Syndrome
Xerostomia, Hypertension, Palpitations, Hyperhidrosis ORPHA:279947
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Intrauterine growth retardation, Congestive heart failure OMIM:619355
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Myocardial infarction OMIM:133100
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Pulmonic stenosis, Left ventricular hypertrophy, Camptodactyly, Small thenar eminence OMIM:619148
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... ORPHA:289548
Bardet-Biedl Syndrome
Hypertension, Skeletal muscle atrophy, Short stature, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... ORPHA:363618
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Short stature OMIM:613320
Pseudoxanthoma Elasticum
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Restrictiv... ORPHA:758
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Decreased circula... ORPHA:293978
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Decreased response to growth hormone stimulation test... OMIM:615577
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Hypertension, Telangiectasia, Right ventricular hypertrophy, Pulmonary... OMIM:178600
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... ORPHA:168558
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Hypertension, Increased circulating ACTH level, Skeletal muscle atrophy OMIM:219090
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Weakness of facial musculature, Cardiomyopathy, Raynaud phenomenon,... ORPHA:247691
Xfe Progeroid Syndrome
Hypertension, Severe short stature OMIM:610965
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH level, Pituitary adenoma,... ORPHA:199299
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Primary adrenal insufficiency, Hyperthyroidism, Steatorrhea, Thymoma, ... OMIM:269200
Glycogen Storage Disease Ib
Hepatomegaly, Hypertension, Hyperlipidemia, Short stature, Pancreatitis, Xanthelasma, Delayed pub... OMIM:232220
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Short stature, Premature adrenarche, Hypog... ORPHA:98754
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Cerebral hemorrhage, Extraadrenal pheochromocytoma, Episodic hyperhidro... ORPHA:29072
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinom... ORPHA:652
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension, Delayed puberty, Short stature OMIM:208060
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Short stature, Premature adrenarche, Hypog... ORPHA:98793
Denys-Drash Syndrome
Hypertension ORPHA:220
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Hypertension, Intrauterine growth retardation, Telangiec... ORPHA:52
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Short stature, Congenital diaphragmatic hernia, Rhi... OMIM:245600
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Restrictive cardiomyopathy, Mitral s... OMIM:264800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Short stature, Premature adrenarche, Hypog... ORPHA:177904
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Short stature, Anhidrosis, Delayed puberty, Enlarged kidney ORPHA:251004
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Increased serum test... ORPHA:90794
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Hypertension, Pancreatitis, Diabetes mellitus ORPHA:69663
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Short stature, Premature adrenarche, Hypog... ORPHA:177901
Myasthenia Gravis
Myositis, Primary adrenal insufficiency, Raynaud phenomenon, Hyperthyroidism, Abnormality of the ... ORPHA:589
Schimke Immunoosseous Dysplasia
Hypertension, Intrauterine growth retardation, Cerebral ischemia, Elevated circulating thyroid-st... OMIM:242900
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Atrioventricular Septal Defect 3
Hypertension, Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hype... OMIM:600309
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Left atrial enlargement, Syncope, Atrial fibrillation,... ORPHA:75249
Prader-Willi Syndrome
Decreased muscle mass, Adrenal insufficiency, Type II diabetes mellitus, Short stature, Hypogonad... OMIM:176270
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Short stature, Flexion contracture, Centra... OMIM:616007
Spondyloenchondrodysplasia
Hypertension, Short stature, Raynaud phenomenon, Vasculitis, Hypothyroidism, Disproportionate sho... ORPHA:1855
Xq21 Microdeletion Syndrome
Hypertension, Growth delay, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:1435
Poems Syndrome
Pericardial effusion, Abnormality of the endocrine system, Pulmonary arterial hypertension, Prima... ORPHA:2905
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Cerebral hemorrhage, Extraadrenal pheochromocytoma, Episodic hyperhidro... ORPHA:276621
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Short stature, Premature adrenarche, Hypog... ORPHA:398073
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Intracranial hemorrhage, Diabetes insipidus, Hypogonadotropic hypogonad... ORPHA:91350
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Pheochromocyto... OMIM:171300
Coach Syndrome 2
Hypertension OMIM:619111
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Splenomegaly, Parotitis, Acute p... ORPHA:99827
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Progressive flexion contractures, Hypertension, Hypothyroidism ORPHA:98808
Gaucher Disease, Type I
Hepatomegaly, Hypertension, Mitral regurgitation, Epistaxis, Pulmonary arterial hypertension, Spl... OMIM:230800
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Ventricular septal defect, Bacterial endoca... ORPHA:99095
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hypertension, Growth delay, Epistaxis, Diffuse alveolar hemorrhage OMIM:614034
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Hypertension, Myocardial infarction, Coronary artery stenosis OMIM:615812
Pearson Syndrome
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Growth delay, Cardiac conduction abnorma... ORPHA:699
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Facial hypotonia, Cardiomegaly, EMG: myo... ORPHA:365
Mirage Syndrome
Adrenal insufficiency, Intracranial hemorrhage, Intrauterine growth retardation, Short stature, H... OMIM:617053
Paragangliomas 4
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Paraganglioma... OMIM:115310
Alagille Syndrome 2
Hypertension, Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Adrenoleukodystrophy
Hypogonadism, Lower limb muscle weakness, Primary adrenal insufficiency OMIM:300100
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Mitral regurgitation, Short stature, Tricuspid regurgit... OMIM:619127
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hypertension OMIM:613095
Juvenile Paget Disease
Hypertension, Short stature ORPHA:2801
C3 Glomerulopathy
Hypertension ORPHA:329918
Distal Monosomy 12Q
Growth delay, Short stature, Maturity-onset diabetes of the young, Congenital hypertrophy of left... ORPHA:96149
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Primary adrenal insufficiency ORPHA:912
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Elevated circulating parathyroid hormone level, Pheochromocytoma, Palpitatio... ORPHA:653
Buschke-Ollendorff Syndrome
Hypertension, Generalized limb muscle atrophy, Short stature, Flexion contracture ORPHA:1306
Polycythemia Vera
Hypertension, Budd-Chiari syndrome, Epistaxis, Intermittent claudication, Gastrointestinal hemorr... ORPHA:729
Caudal Regression Sequence
Decreased muscle mass, Maternal diabetes, Hypertension ORPHA:3027
Tangier Disease
Coronary artery stenosis, Facial diplegia, Hypocholesterolemia, Left ventricular hypertrophy, Hep... ORPHA:31150
Adrenomyeloneuropathy
Adrenocortical abnormality, Adrenal insufficiency, Primary adrenal insufficiency, Leg muscle stif... ORPHA:139399
Werner Syndrome
Hypertension, Thyroid carcinoma, Type II diabetes mellitus, Skeletal muscle atrophy, Short statur... ORPHA:902
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Myositis, Endocarditis, Recurrent intrapu... ORPHA:183
Methylcobalamin Deficiency Type Cble
Hypertension, Postnatal growth retardation, Intrauterine growth retardation, Lower limb hypertonia ORPHA:2169
Glycogen Storage Disease Ic
Hepatomegaly, Hypertension, Spider hemangioma, Hyperlipidemia, Pulmonary arterial hypertension, X... OMIM:232240
Nephronophthisis 2
Pulmonary insufficiency, Situs inversus totalis, Hypertension, Enlarged kidney OMIM:602088
Cranioectodermal Dysplasia 2
Hepatomegaly, Hypertension, Short stature, Rhizomelia, Splenomegaly, Left ventricular hypertrophy... OMIM:613610
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Streak ovary, Abs... ORPHA:251510
Gaisböck Syndrome
Hypertension, Elevated diastolic blood pressure, Hypercholesterolemia, Myocardial infarction, Hyp... ORPHA:90041
Arterial Tortuosity Syndrome
Hypertension, Congenital diaphragmatic hernia, Ventricular hypertrophy, Aortic regurgitation, Tel... OMIM:208050
X-Linked Cerebral Adrenoleukodystrophy
Facial myokymia, Hamstring contractures, Primary adrenal insufficiency, Male hypogonadism, Decrea... ORPHA:139396
Joubert Syndrome 14
Hypertension, Growth delay OMIM:614424
Lead Poisoning
Hypertension, Decreased circulating osteocalcin level, Delayed puberty ORPHA:330015
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertension, Growth delay, Hyperlipidemia, Short stature, Epistaxis, Pancreatitis,... ORPHA:79259
Livedoid Vasculopathy
Hypertension, Telangiectasia of the skin, Diabetes mellitus, Ischemic stroke, Graves disease ORPHA:542643
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Ventricular septal defect, Right ventricular hypertrophy, ... ORPHA:466791
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypertension, Calcinosis, Prolonged QT interval, ... ORPHA:79443
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Central adrenal insufficiency, Skeletal muscle atrophy, Macroglossia, ... ORPHA:488632
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly OMIM:618886
Alexander Disease
Hypertension, Facial palsy, Diabetes mellitus, Hypothyroidism, Hyperhidrosis, Sudden cardiac deat... ORPHA:58
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hypertension, Neonatal death, Splenomegaly, Portal hypertension, Enlarged kidney OMIM:263200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Hepatomegaly, Hypertension, Raynaud phenomenon, Splenomegaly, Hepatosplen... OMIM:615688
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Abnormal left ventricular outflow trac... ORPHA:402075
Serotonin Syndrome
Hypertension, Tachycardia, Hyperhidrosis, Rhabdomyolysis, Hypotension ORPHA:43116
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hepatomegaly, Hypertension, Male hypogonadism, Pos... ORPHA:90321
Popov-Chang syndrome
Hypertension, Short stature, Pulmonic stenosis OMIM:618428
Porphyria Variegata
Hypertension, Proximal muscle weakness in upper limbs, Tachycardia, Inappropriate antidiuretic ho... ORPHA:79473
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Myopathy, Hypertension, Hypogonadism, Hepatosplenomegaly, Gastrointestinal hemorrha... ORPHA:85450
Coach Syndrome 1
Hepatomegaly, Hypertension, Growth delay, Splenomegaly, Portal hypertension OMIM:216360
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Adrenal insufficiency OMIM:614863
Infant Botulism
Xerostomia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Hurler Syndrome
Hepatomegaly, Hypertension, Growth delay, Short stature, Macroglossia, Endocardial fibroelastosis... ORPHA:93473
Cushing Disease
Proximal amyotrophy, Adrenal hyperplasia, Increased urinary cortisol level, Hypertension, Capilla... ORPHA:96253
Ochoa Syndrome
Hypertension ORPHA:2704
Nephroblastoma
Hypertension ORPHA:654
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Systolic heart murmur, Right... ORPHA:555874
Alkaptonuria
Hypertension, Tendon rupture, Mitral valve calcification, Prostatitis, Thickened Achilles tendon,... ORPHA:56
Myhre Syndrome
Hypertension, Intrauterine growth retardation, Skeletal muscle hypertrophy, Severe short stature,... ORPHA:2588
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension, Hypothyroidism ORPHA:93256
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating follicle stimulating hormone level, Short stature, Absence of secondary sex ... ORPHA:90796
Cocaine Intoxication
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... ORPHA:90068
Hutchinson-Gilford Progeria Syndrome
Mitral valve calcification, Mitral stenosis, Raynaud phenomenon, Transient ischemic attack, Puber... ORPHA:740
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Intrauterine growth retardation, Short stature, Abnormal heart morphology,... OMIM:612289
Simple Cryoglobulinemia
Hypertension, Pericarditis, Abnormal heart morphology, Raynaud phenomenon, Myocardial infarction,... ORPHA:91139
Somatomammotropinoma
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Macroglossia, Pituitary growth h... ORPHA:314769
Atypical Werner Syndrome
Hypertension, Skeletal muscle atrophy, Mitral valve prolapse, Abnormality of circulating leptin l... ORPHA:79474
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Familial Dysautonomia
Hypertension, Growth delay, Orthostatic hypotension, Tachycardia, Hypohidrosis, Hyperhidrosis ORPHA:1764
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Primary adrenal insufficiency, Hypercholesterolemia, Xanthelasma... ORPHA:275761
Porphyria
Hypertension ORPHA:738
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Episodic hyperhidrosis, Growth delay, Orthostatic hypotension, Tachycardia OMIM:223900
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Hypertension, Decreased serum insulin-like growth factor... OMIM:301068
Alport Syndrome 1, X-Linked
Hypertension, Hypoparathyroidism OMIM:301050
Poliomyelitis
Hypertension, Hypovolemic shock, Skeletal muscle atrophy, Abnormal skeletal muscle morphology, Hy... ORPHA:2912
Acromegaly
Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation, Macroglossia, Pituitary growth h... ORPHA:963
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Hypertension OMIM:219250
Granulomatosis With Polyangiitis
Hypertension, Pericarditis, Diabetes insipidus, Prostatitis, Epistaxis, Abnormality of the hypoth... ORPHA:900
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hypertension, Mitral valve prolapse, Enlarged kidney ORPHA:730
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Cardiomegaly, Transient ischemic attac... ORPHA:91387
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Hypertension, Intrauterine growth retardation, Arrhythmia OMIM:614052
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Sickle Cell Anemia
Hepatomegaly, Hypertension, Cardiomegaly, Splenomegaly OMIM:603903
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Diffuse Cutaneous Systemic Sclerosis
Xerostomia, Pulmonary arterial hypertension, Hypertensive crisis, Telangiectasia of the skin, Con... ORPHA:220393
Acute Interstitial Pneumonia
Hypertension, Pericardial effusion ORPHA:79126
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Hypertension, Intrauterine growth retardation, Mitral valve prolapse OMIM:616914
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipid... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipid... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipid... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Hypertension, Type II diabetes mellitus, Prolonged QT interval, Hyperlipid... ORPHA:99226
Cockayne Syndrome A
Hepatomegaly, Hypertension, Thymic hormone decreased, Intrauterine growth retardation, Severe pos... OMIM:216400
Cushing Syndrome Due To Ectopic Acth Secretion
Proximal amyotrophy, Adrenal hyperplasia, Increased urinary cortisol level, Neuroendocrine neopla... ORPHA:99889
Microphthalmia, Syndromic 2
Dextrocardia, Ventricular septal defect, Adrenal insufficiency, Mitral valve prolapse, Short stat... OMIM:300166
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Atr... ORPHA:1677
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatomegaly, Third degree atrioventricular block, Hypertension, Intraute... OMIM:619573
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Hyperhidrosis, R... ORPHA:94093
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Telangiectasia of... ORPHA:3342
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... ORPHA:31826
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Growth delay, Short stature, Hypertensive crisis, Facial palsy... ORPHA:1358
Igg4-Related Retroperitoneal Fibrosis
Hypertension, Renovascular hypertension, Budd-Chiari syndrome, Large vessel vasculitis, Hashimoto... ORPHA:49041
Mucopolysaccharidosis Type 2
Hepatomegaly, Hypertension, Growth delay, Short stature, Abnormal mitral valve morphology, Macrog... ORPHA:580
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Pineal cyst, Abnormal heart morphology, Cardiom... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pineal cyst, Abnormal heart morphology, Cardiom... ORPHA:363958
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Mitral regurgitation, Short stature, ... OMIM:611962
Von Hippel-Lindau Syndrome
Hypertension, Pheochromocytoma, Paraganglioma OMIM:193300
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
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Homozygous Familial Hypercholesterolemia
Hypertension, Myocardial steatosis, Hyperlipidemia, Mitral regurgitation, Supravalvular aortic st... ORPHA:391665
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Growth delay, Short stature, Abnormal mitral valve morphology, Macroglossia, Abnorm... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Growth delay, Short stature, Abnormal mitral valve morphology, Macroglossia, Abnorm... ORPHA:217093
Galloway-Mowat Syndrome 3
Hypertension, Intrauterine growth retardation, Short stature, Camptodactyly OMIM:617729
Scalp-Ear-Nipple Syndrome
Hypertension, Type I diabetes mellitus, Hypohidrosis ORPHA:2036
17Q11 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Elevated circulating parathyroid hormone level, Hypertension, Intrau... ORPHA:97685
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Hypertension, Tachycardia, Proximal muscle weakness in u... ORPHA:79276
Cockayne Syndrome
Hepatomegaly, Hypertension, Limb hypertonia, Skeletal muscle atrophy, Retinal hemorrhage, Growth ... ORPHA:191
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Pulmonary arterial hypertension, ... OMIM:100300
Carney Complex
Cardiac myxoma, Hypertension, Thyroid carcinoma, Euthyroid multinodular goiter, Increased serum i... ORPHA:1359
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Hypertensive crisis, Pancreatitis, Diabetes mellitus ORPHA:544482
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypertension, Hypotension ORPHA:134
Myhre Syndrome
Hypertension, Ventricular septal defect, Intrauterine growth retardation, Skeletal muscle hypertr... OMIM:139210
Nephronophthisis 1
Hypertension, Growth delay OMIM:256100
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Intracranial hemorrhage, Palpitations, Subconjunctival hemorrhage, Epistaxis... ORPHA:340
Cockayne Syndrome B
Hepatomegaly, Hypertension, Intrauterine growth retardation, Splenomegaly, Severe short stature, ... OMIM:133540
Truncus Arteriosus
Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Intrauterine growth re... ORPHA:3384
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Posterior Urethral Valve
Hypertension, Postnatal growth retardation ORPHA:93110
Scalp-Ear-Nipple Syndrome
Hypertension, Abnormality of the endocrine system OMIM:181270
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Pancreatic endocrine tumor, Pheochromocytoma, Hypertension, Pituitary adenom... ORPHA:805
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia OMIM:235400
Neurofibromatosis, Type I
Hypertension, Pheochromocytoma, Short stature, Rhabdomyosarcoma, Parathyroid adenoma OMIM:162200
Aneurysm-Osteoarthritis Syndrome
Atrial fibrillation, Mitral regurgitation, Abnormal heart morphology, Aortic regurgitation, Pulmo... ORPHA:284984
D-Bifunctional Protein Deficiency
Decreased muscle mass, Hepatomegaly, Primary adrenal insufficiency, Splenomegaly OMIM:261515
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Oligomeganephronia
Congenital diaphragmatic hernia, Secundum atrial septal defect, Hypertension ORPHA:2260
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Orofaciodigital Syndrome I
Abnormal heart morphology, Hypertension, Short stature OMIM:311200
Marshall-Smith Syndrome
Hypertension, Atrial septal defect, Pulmonary arterial hypertension OMIM:602535
Acute Liver Failure
Shock, Adrenal insufficiency, Intracranial hemorrhage, Gastrointestinal hemorrhage, Hypotension ORPHA:90062
22Q11.2 Deletion Syndrome
Ventricular septal defect, Hypoparathyroidism, Tricuspid atresia, Truncus arteriosus, Short statu... ORPHA:567
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Mitral valve prolapse, Atrial fibrillation, Mitral regurgitation, Ventricu... OMIM:613795
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Hypertens... OMIM:194050
Williams Syndrome
Bicuspid aortic valve, Short stature, Cerebral ischemia, Overriding aorta, Hypertrophic cardiomyo... ORPHA:904
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... OMIM:600376
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Renal Hypoplasia