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Gene: Chga MGI:88394

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chromogranin A
Synonyms:
ChrA

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty OMIM:615961
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... OMIM:262700
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Myocardial infarction OMIM:608320
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hyperaldosteronism OMIM:605635
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Combined Oxidative Phosphorylation Deficiency 50
Intrauterine growth retardation, Adrenal insufficiency, Short stature OMIM:619025
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:610947
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Apparent Mineralocorticoid Excess
Short stature, Hypertension, Abnormality of circulating cortisol level, Left ventricular hypertro... ORPHA:320
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... ORPHA:171445
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Pituitary Gigantism
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... ORPHA:99725
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Hypertension, Type II diab... OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension, Pancreatitis ORPHA:79084
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
8P23.1 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis ORPHA:251076
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Flexion contracture, Hypertension, Left ventricular hypertrophy, In... OMIM:616733
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... ORPHA:556037
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating corticosterone level, Increased circulating 18-hyd... OMIM:610600
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Congestive heart failure, Bradycardia, Left ventricular hy... OMIM:619048
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Postnatal growth retardation, Abnormal circulating corticosterone level,... ORPHA:556030
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia, Increased circulating androgen conce... ORPHA:228346
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... ORPHA:225
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm... OMIM:609981
Apparent Mineralocorticoid Excess
Short stature, Growth delay, Hypertension, Decreased circulating aldosterone level, Decreased cir... OMIM:218030
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... OMIM:619040
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... ORPHA:86812
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension OMIM:264350
Liddle Syndrome 2
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri... ORPHA:3208
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatomegaly, Elevated circulating thyroid-stimulating hormone con... OMIM:617872
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Aplasia of the left hemidiaphragm, Adrenal insufficiency OMIM:618238
Preeclampsia
Elevated diastolic blood pressure, Hypertension, Elevated systolic blood pressure, Type I diabete... ORPHA:275555
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypotension OMIM:611489
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Potocki-Shaffer Syndrome
Hypertension, Hypothyroidism, Delayed puberty ORPHA:52022
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:608600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... OMIM:618985
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... OMIM:219080
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph... OMIM:617713
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Hypertension, Abnormal mitral valve morphology, Short stature ORPHA:1192
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Hyperlipidemia, Hypertension, Myopathy, Muscular dyst... OMIM:615980
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Intrauterine growth retardation, Decreased level of coenzyme Q10 in... OMIM:614654
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy, Intrauterine growth retardation OMIM:620145
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Liddle Syndrome 1
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Wolman Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Growth delay, Adrenal insufficiency, Steatorrhea ORPHA:75233
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr... OMIM:613156
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Triple A Syndrome
Short stature, Abnormality of the calf musculature, Adrenal insufficiency, Abnormality of the hyp... ORPHA:869
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Leg m... ORPHA:43
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... OMIM:171400
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Short stature, Adrenocorticotropin... OMIM:231550
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Adrenal insufficiency, Pancreatitis OMIM:619386
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Short stature, Limb joint contracture, Ce... OMIM:612079
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Aa Amyloidosis
Hepatomegaly, Abnormal heart morphology, Adrenal insufficiency, Hypotension, Hypothyroidism, Enla... ORPHA:85445
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... ORPHA:31825
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Short stature, Isosexual precocious pub... ORPHA:90795
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... ORPHA:251992
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Tangier Disease
Hepatomegaly, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Facial diplegia, Distal ... OMIM:205400
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Noonan Syndrome 8
Ventricular septal defect, Short stature, Mitral regurgitation, Pulmonic stenosis, Atrial septal ... OMIM:615355
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Pericardial effusion, Hepato... OMIM:619487
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogen... OMIM:202010
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyro... ORPHA:525731
Hyperaldosteronism, Familial, Type Iii
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cardiomyop... ORPHA:746
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Myopathy ORPHA:363400
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... ORPHA:347
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, H... OMIM:604367
Paget Disease Of Bone 6
Left ventricular hypertrophy OMIM:616833
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di... ORPHA:79083
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Growth delay, Adrenal insufficiency, Increased circulating ... ORPHA:427
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Heart murmur, EMG... OMIM:615418
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:618620
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Short stature, Ragged-red muscle fibers, Primary adrenal i... OMIM:530000
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Alstrom Syndrome
Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:203800
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Limb muscle weakness, Diabetes... ORPHA:97229
Congenital Isolated Acth Deficiency
Hypotension, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199296
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Decreased circulating aldosterone level, Increased circulating renin level, Hypoten... OMIM:203400
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad... ORPHA:231632
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Hypertension, Type II diabetes mellitus, Hypercholes... OMIM:615812
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Short stature, Delayed ... ORPHA:324
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth retardation, Decre... ORPHA:453533
Coproporphyria, Hereditary
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly OMIM:121300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... OMIM:615925
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Atrial fibrillation, Facial palsy, Quadriceps muscle weakness... ORPHA:254892
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... ORPHA:136
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Hyperhidrosis, Hypertension, Proximal limb muscle stiffness, Asym... OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Nelson Syndrome
Increased urinary cortisol level, Lower limb muscle weakness, Quadriceps muscle atrophy, Pituitar... ORPHA:199244
Stiff Skin Syndrome
Hypertension, Short stature, Type II diabetes mellitus ORPHA:2833
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Primary adrenal insuf... ORPHA:261476
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Hyperh... ORPHA:860
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic endocrine tumor, Myocarditis, Ad... ORPHA:892
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Severe shor... OMIM:617253
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... ORPHA:494424
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Adrenomyodystrophy
Myopathy, Primary adrenal insufficiency, Short stature ORPHA:977
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Right ventricular hypertrophy ORPHA:335
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Hypoplasia of the musculature, High-output congestive hear... ORPHA:231226
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Hypertension, Adrenocortical adenoma, P... ORPHA:139411
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Skeletal muscle atrophy, Primary adrenal insufficiency, Type II... ORPHA:2047
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr... ORPHA:1349
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke OMIM:182410
Adenohypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95512
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Portal hypertension, Splenomegaly, Hep... OMIM:278000
Panhypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95513
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Palpitations, Para... ORPHA:94080
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Inappropriate antidiuretic ... ORPHA:79330
Senior-Loken Syndrome
Hypertension, Short stature ORPHA:3156
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Growth delay, Hypogonadism, Adrenal insufficiency, Abnormality of the hypotha... ORPHA:300298
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Distal Deletion 13Q
Abnormal cardiac septum morphology, Primary adrenal insufficiency, Short stature ORPHA:1590
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, High-output c... ORPHA:231214
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Short stature ORPHA:44
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, High-output congestive heart failure, Spleno... ORPHA:231222
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... ORPHA:371428
Reni Syndrome
Hypogonadism, Hypertriglyceridemia, Hypothyroidism, Adrenal insufficiency OMIM:617575
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Disproportionate short-trunk short stature, Le... OMIM:619698
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Sheehan Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:91355
Monosomy 18P
Hypertension, Hypothyroidism, Short stature ORPHA:1598
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Short stature, Postnatal growth retardation, Camptodactyly, Left ventricular hypertro... OMIM:611209
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism, Short stature OMIM:617763
Overlap Myositis
Proximal muscle weakness in upper limbs, Diabetes mellitus, Raynaud phenomenon, Perifascicular mu... ORPHA:206572
Amyloidosis, Familial Visceral
Splenomegaly, Hypertension, Hepatomegaly OMIM:105200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... ORPHA:308552
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... OMIM:201810
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... ORPHA:576
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Orthostatic hypotension, Adrenal hypoplasia, Myocardial inf... ORPHA:95409
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Hypothyroidism ORPHA:449291
Pseudohypoaldosteronism Type 2
Growth delay, Hypertension, Short stature ORPHA:757
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia OMIM:603278
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Abnormality of thyroid physiology, Short stature, Congestive heart fai... ORPHA:1830
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Cardiomegaly, Postnatal growth retardation, Hypertension, Pulmonary arterial hyper... OMIM:613320
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Nestor-Guillermo Progeria Syndrome
Short stature, Left atrial enlargement, Decreased serum leptin, Flexion contracture, Right bundle... OMIM:614008
Glycogen Storage Disease Ia
Hepatomegaly, Decreased muscle mass, Short stature, Hyperlipidemia, Growth delay, Xanthelasma, Hy... OMIM:232200
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... OMIM:151660
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Short stature, Mitral valve prolapse, Mitral regurgit... OMIM:616564
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Short stature, Hypertension, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Hypertension, Hypogonadism, Left ventricular h... OMIM:209900
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Congestive heart failure, Intrauterine growth retardation OMIM:619355
Vici Syndrome
Postnatal growth retardation, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, M... OMIM:242840
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Elevated circulating thyroid-stimulating hormone concentration, Dispro... OMIM:242900
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Adrenal calcif... ORPHA:85138
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Pituitary adenoma, Increased circulating ACTH level, Skeletal muscle atrophy OMIM:219090
Postorgasmic Illness Syndrome
Hypertension, Xerostomia, Palpitations, Hyperhidrosis ORPHA:279947
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C... ORPHA:29072
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Hypertension, Second degree atrioventricular block, ... OMIM:617021
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Short stature, Chronic pancreatitis, Growth dela... OMIM:307030
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Congenital diaphragmatic hernia, ... OMIM:245600
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... ORPHA:363618
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Chromosome 13Q33-Q34 Deletion Syndrome
Short stature, Small thenar eminence, Pulmonic stenosis, Camptodactyly, Left ventricular hypertrophy OMIM:619148
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Decreased circ... ORPHA:199299
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... ORPHA:75249
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Arteriosclerosis, Severe Juvenile
Hypertension, Short stature, Myocardial infarction, Delayed puberty OMIM:208060
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in... ORPHA:90794
Alagille Syndrome
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Hypertension, Delayed pubert... ORPHA:52
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Congenital diaphragmatic hernia OMIM:166300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy OMIM:618321
Mirage Syndrome
Short stature, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Intracranial hemorrhage, Adren... OMIM:617053
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Short stature, Hypertension, Delayed puberty, Enlarged kidney ORPHA:251004
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ... OMIM:269200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension, Hyperaldosteronism, Increased circulating renin level, Short stature OMIM:612780
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Glycogen Storage Disease Ib
Hepatomegaly, Short stature, Splenomegaly, Hyperlipidemia, Xanthelasma, Hypertension, Delayed pub... OMIM:232220
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Episodic hype... ORPHA:276621
Denys-Drash Syndrome
Hypertension ORPHA:220
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus, Hypertension, Pancreatitis ORPHA:69663
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... ORPHA:1435
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... OMIM:208000
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Short stature, Myocardial infarction, Conges... ORPHA:902
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ... OMIM:115310
Prader-Willi Syndrome
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:176270
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Myasthenia Gravis
Myositis, Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus mor... ORPHA:589
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Primary adrenal ins... ORPHA:2905
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Coach Syndrome 2
Hypertension OMIM:619111
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... OMIM:230800
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of... ORPHA:1329
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Hypertension, Torticollis, Hypothyroidism ORPHA:98808
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... ORPHA:365
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hy... ORPHA:90041
Nephronophthisis 18
Hypertension OMIM:615862
Lead Poisoning
Hypertension, Decreased circulating osteocalcin level, Delayed puberty ORPHA:330015
Heme Oxygenase 1 Deficiency
Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Growth delay, Hypertension OMIM:614034
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Decreased response to growth hormone stimula... ORPHA:699
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency, Lower limb muscle weakness OMIM:300100
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Internal hemorrhage, Hepa... ORPHA:99827
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hyperhidrosis, G... OMIM:614653
Nephronophthisis 2
Situs inversus totalis, Hypertension, Pulmonary insufficiency, Enlarged kidney OMIM:602088
Alagille Syndrome 2
Atrial septal defect, Hypertension, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Hypertension, Lower limb hypertonia, Intrauterine growth retardation ORPHA:2169
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Spondyloenchondrodysplasia
Short stature, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculi... ORPHA:1855
Juvenile Paget Disease
Hypertension, Short stature ORPHA:2801
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Hypertriglyceridemia, Short st... OMIM:619127
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... ORPHA:466791
Caudal Regression Syndrome
Hypertension, Decreased muscle mass, Maternal diabetes ORPHA:3027
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
C3 Glomerulopathy
Hypertension ORPHA:329918
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Leg mus... ORPHA:139399
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Primary adrenal insufficiency, Short stature ORPHA:912
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... ORPHA:653
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis OMIM:615510
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Distal Deletion 12Q
Diabetes mellitus, Short stature, Maturity-onset diabetes of the young, Pituitary adenoma, Elbow ... ORPHA:96149
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... ORPHA:251510
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Primary adrenal insufficiency, Hamstring contractures, Faci... ORPHA:139396
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Short stature, Epistaxis, Hyperlipidemia, Thyroiditis, Growth... ORPHA:79259
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hyperte... ORPHA:58
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79443
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Growth delay, Ventricular septal defect OMIM:614424
Livedoid Vasculopathy
Diabetes mellitus, Telangiectasia of the skin, Hypertension, Ischemic stroke, Graves disease ORPHA:542643
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Porphyria Variegata
Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia, Proximal muscle weakness... ORPHA:79473
Cockayne Syndrome Type 1
Hepatomegaly, Foot joint contracture, Postnatal growth retardation, Hypohidrosis, Hypertension, M... ORPHA:90321
Birk-Landau-Perez Syndrome
Facial hypotonia, Growth delay, Hypertension, Intrauterine growth retardation, Limb hypertonia OMIM:617595
Glycogen Storage Disease Ic
Hepatomegaly, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hypertension,... OMIM:232240
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Portal hypertension, Raynaud phenomenon, Splenomegaly, Dilated cardiomyopathy, Vasc... OMIM:615688
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Ochoa Syndrome
Hypertension ORPHA:2704
Cranioectodermal Dysplasia 2
Hepatomegaly, Short stature, Rhizomelia, Splenomegaly, Hypertension, Atrial septal defect, Left v... OMIM:613610
Serotonin Syndrome
Tachycardia, Rhabdomyolysis, Hyperhidrosis, Hypertension, Hypotension ORPHA:43116
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Splenomegaly, Growth delay, Hypertension OMIM:216360
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... ORPHA:85450
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Hypertension, Arrhythmia, Neonatal death, Intrauterine growth retardation, Hypertro... OMIM:614052
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Hypertension, Growth delay OMIM:619758
Infant Botulism
Hypertension, Xerostomia, Cardiac arrest, Hypotension ORPHA:178478
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Adrenal insufficiency OMIM:614863
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Hyperthyroidism, Ventricular septal defect, Decreased response to growth... ORPHA:488632
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Short stature, Camptodactyly of f... ORPHA:93473
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hypertension, Dextrocardia, Hepatomegaly OMIM:613095
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Atypical Werner Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Hypertriglyceridemia, Telangiectasia of the skin, Sho... ORPHA:79474
Nephroblastoma
Hypertension ORPHA:654
Hardikar Syndrome
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Short stat... OMIM:301068
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Short stature,... OMIM:616007
Myhre Syndrome
Severe short stature, Precocious puberty, Skeletal muscle hypertrophy, Hypertension, Abnormal car... ORPHA:2588
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hematochezia, Hyperten... OMIM:615846
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hormone level, En... ORPHA:90796
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Hypotension ORPHA:93256
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Short stature, Shortened PR interval, ... OMIM:614947
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... ORPHA:56
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Growth delay, Hypertension OMIM:223900
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Adrenal calcification, Primary adrenal insufficiency, Hypovolemia, Hepatosp... ORPHA:275761
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypohidrosis, Hyperhidrosis, Hypertension, Growth delay ORPHA:1764
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Congenital diaphragmatic hernia, Flexion contractu... OMIM:208050
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... ORPHA:227982
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Short stature, Hypoplasia o... OMIM:612289
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension OMIM:301050
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Diabetes insipidu... ORPHA:900
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... ORPHA:227990
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Pulmonary ... ORPHA:220393
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Mitral valve prolapse, Enlarged kidney, Pituitary growth hormone cell adenoma ORPHA:730
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... ORPHA:91387
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Hypertension, Intrauterine growth retardation, Mitral valve prolapse OMIM:616914
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... ORPHA:3342
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension ORPHA:79126
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Ventricular septal defect, Dext... OMIM:300166
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Hypertension, Neonatal death, Enlar... OMIM:263200
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis... ORPHA:466677
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Short stature, High urinary gonadotropin level, Myo... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Short stature, High urinary gonadotropin level, Myo... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Short stature, High urinary gonadotropin level, Myo... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Short stature, High urinary gonadotropin level, Myo... ORPHA:99226
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertensi... OMIM:619573
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hyperhidrosis, Hypertension, Bradycardia, Hypote... ORPHA:94093
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ... OMIM:220111
Cockayne Syndrome A
Anhidrosis, Hepatomegaly, Hip contracture, Short stature, Splenomegaly, Hypertension, Severe post... OMIM:216400
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... ORPHA:1358
Igg4-Related Retroperitoneal Fibrosis
Renovascular hypertension, Large vessel vasculitis, Hypertension, Budd-Chiari syndrome, Hashimoto... ORPHA:49041
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Mitral valve prolapse, Hypertension, ... OMIM:611962
Renal Hypoplasia, Bilateral
Growth delay, Hypertension, Short stature ORPHA:97362
Sickle Cell Disease
Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly OMIM:603903
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... ORPHA:1359
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Von Hippel-Lindau Syndrome
Hypertension, Pheochromocytoma, Paraganglioma OMIM:193300
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature... ORPHA:580
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Short stature, Rhabdomyosarcoma, Precocious puberty, Renovascular hyp... ORPHA:97685
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Bartter Syndrome Type 4
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... ORPHA:89938
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Camptodactyl... ORPHA:217085
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension OMIM:612926
Galloway-Mowat Syndrome 3
Hypertension, Short stature, Camptodactyly, Intrauterine growth retardation OMIM:617729
Beta-Ketothiolase Deficiency
Hypertension, Hypotension, Hepatomegaly ORPHA:134
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Cockayne Syndrome
Anhidrosis, Skeletal muscle atrophy, Diabetes mellitus, Severe short stature, Hepatomegaly, Postn... ORPHA:191
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Camptodactyl... ORPHA:217093
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Hypertension, Hypohidrosis ORPHA:2036
Acute Intermittent Porphyria
Proximal muscle weakness in upper limbs, Tachycardia, Hyperhidrosis, Proximal muscle weakness in ... ORPHA:79276
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperhidrosis, Intracranial hemorrhage, Melena, Hyper... ORPHA:340
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Myocarditis, Hypertension, Pancreatitis, Hypertensive crisis ORPHA:544482
Nephronophthisis 1
Growth delay, Hypertension OMIM:256100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Myhre Syndrome
Ventricular septal defect, Short stature, Pericardial effusion, Generalized muscle hypertrophy, B... OMIM:139210
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
D-Bifunctional Protein Deficiency
Splenomegaly, Hepatomegaly, Decreased muscle mass, Primary adrenal insufficiency OMIM:261515
Posterior Urethral Valve
Postnatal growth retardation, Hypertension ORPHA:93110
Neurofibromatosis, Type I
Short stature, Rhabdomyosarcoma, Hypertension, Pheochromocytoma, Parathyroid adenoma OMIM:162200
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Hype... ORPHA:805
Cockayne Syndrome B
Anhidrosis, Hepatomegaly, Severe short stature, Postnatal growth retardation, Splenomegaly, Hyper... OMIM:133540
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... ORPHA:284984
Marshall-Smith Syndrome
Ventricular septal defect, Short stature, Premature ventricular contraction, Hypertension, Atrial... OMIM:602535
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Precocious puberty, Splenomegaly, Growth ... OMIM:270400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia OMIM:235400
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Rec... OMIM:606721
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hypertensive crisis, Hyperthyroidism, Ventricula... ORPHA:567
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Williams-Beuren Syndrome
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Short s... OMIM:194050
Scalp-Ear-Nipple Syndrome
Short stature, Cardiac myxoma, Congestive heart failure, Hypohidrosis, Hypertension, Supraventric... OMIM:181270
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension OMIM:613834
Oligomeganephronia
Secundum atrial septal defect, Hypertension, Congenital diaphragmatic hernia ORPHA:2260
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Tendon xanthomatosi... ORPHA:391665
Wagro Syndrome
Hypertension OMIM:612469
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Hypothyroidism,... ORPHA:904
Xfe Progeroid Syndrome
Hypertension, Severe short stature OMIM:610965
Papillorenal Syndrome
Hypertension, Short stature OMIM:120330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Adrenal insufficiency, Hypotension ORPHA:90062
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Nephronophthisis-Like Nephropathy 1
Hypertension, Chronic pancreatitis OMIM:613159
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit... OMIM:613795
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Proportionate short stature, Telangiectasia OMIM:234100
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Hypertension, Neonatal deat... OMIM:194080
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... ORPHA:394
Renal Hypoplasia
Hypertension ORPHA:93101
Apert Syndrome
Hypertension ORPHA:87
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Pulmonary embolism ORPHA:567546
Pallister-Hall Syndrome
Ventricular septal defect, Short stature, Adrenal hypoplasia, Precocious puberty, Adrenocorticotr... ORPHA:672
Postinfectious Vasculitis
Cerebral vasculitis, Orchitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke,... ORPHA:48435
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth retardation, Renovascula... ORPHA:3472
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Growth delay, Hypertension, Calcinosis, Splenomegaly OMIM:617913
Neurofibromatosis Type 1
Short stature, Abnormality of the endocrine system, Precocious puberty, Hypertension, Pheochromoc... ORPHA:636
Orofaciodigital Syndrome I
Hypertension, Short stature, Abnormal heart morphology OMIM:311200
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Rhizomelia, Short stature, Hepatosplenomegaly, Macroglossia, Hypertension OMIM:266920
Blau Syndrome
Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe OMIM:186580
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard... ORPHA:51608
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Pancreatitis, Myocardial infarction ORPHA:90038
Senior-Boichis Syndrome
Hypertension, Portal hypertension, Hepatosplenomegaly ORPHA:84081
Orofaciodigital Syndrome Type 4
Severe short stature, Camptodactyly of finger, Primary adrenal insufficiency, Growth delay, Intra... ORPHA:2753
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Arima Syndrome
Growth delay, Hypertension, Hepatomegaly OMIM:243910
Alport Syndrome
Hypertension ORPHA:63
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Au-Kline Syndrome
Hypertension OMIM:616580
Blau Syndrome
Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Xerostomia, Large vessel vascu... ORPHA:90340
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, Upper limb muscle weakness, Hypertension, Dista... ORPHA:139417
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Growth delay,... ORPHA:731
Orofaciodigital Syndrome Type 1
Hypertension, Exocrine pancreatic insufficiency ORPHA:2750
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Short stature, Hypohidrosis, Growth delay, Hypertension, Neonatal death, Atrial septal defect, Co... OMIM:308205
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Hypertension, Intrauterine growth retardation OMIM:300896
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Pierson Syndrome
Hypertension, Retinal hemorrhage, Skeletal muscle atrophy OMIM:609049
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Renal Dysplasia
Hypertension, Enlarged kidney ORPHA:93108
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Budd-Chiari syndrome, Myocardial infarction, Pulmonary embolism ORPHA:447
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic attack, Short sta... ORPHA:286

Histopathology

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

There is no histopathology data for Chga

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chga.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Chgatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chgatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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