Hypertension, and Coronary artery atherosclerosis

Diseases related with Hypertension and Coronary artery atherosclerosis

In the following list you will find some of the most common rare diseases related to Hypertension and Coronary artery atherosclerosis that can help you solving undiagnosed cases.

Top matches:

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (OMIM ).

Related symptoms:

  • Seizures
  • Hypertension
  • Congestive heart failure
  • Arrhythmia
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about LONG QT SYNDROME 13; LQT13

AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 Is also known as familial thoracic aortic aneurysm with livedo reticularis and iris flocculi

Related symptoms:

  • Hypertension
  • Dilatation
  • Patent ductus arteriosus
  • Coloboma
  • Myocardial infarction


SOURCES: OMIM MESH MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Congestive heart failure
  • Obesity
  • Diabetes mellitus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO CEP19 DEFICIENCY

Other less relevant matches:

Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 6; PDB6

Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

FAMILIAL AORTIC DISSECTION Is also known as aortic aneurysm, familial thoracic|annuloaortic ectasia|cystic medial necrosis of aorta|aortic dissection, familial|aneurysm, thoracic aortic|faa1

Related symptoms:

  • Cataract
  • Flexion contracture
  • Hypertension
  • Dilatation
  • Pectus excavatum


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL AORTIC DISSECTION

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh

Related symptoms:

  • Hypertension
  • Dyspnea
  • Arthralgia
  • Hepatic steatosis
  • Sudden cardiac death


SOURCES: ORPHANET MENDELIAN

More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE Is also known as fpld1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, kobberling type

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Obesity
  • Diabetes mellitus
  • Hepatic steatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Top 5 symptoms//phenotypes associated to Hypertension and Coronary artery atherosclerosis

Symptoms // Phenotype % cases
Myocardial infarction Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Hypercholesterolemia Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Hepatic steatosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Coronary artery atherosclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Premature coronary artery atherosclerosis Bicuspid aortic valve Cutis marmorata Aortic dissection Lipoatrophy Atherosclerosis Thoracic aortic aneurysm Exertional dyspnea Diabetes mellitus Insulin resistance Ascending aortic dissection Aortic aneurysm Patent ductus arteriosus Aortic root aneurysm Peripheral arterial stenosis Left ventricular failure Xanthomatosis Dilatation

Rare Symptoms - Less than 30% cases

Stroke Epidermal acanthosis Hyperlipidemia Hepatomegaly Mitral regurgitation Cystic medial necrosis of the aorta Paroxysmal dyspnea Aortic atherosclerosis Cardiomegaly Descending aortic dissection Chest pain Aortic valve stenosis Aortic regurgitation Descending thoracic aorta aneurysm Carotid artery dilatation Abdominal aortic aneurysm Dilatation of the cerebral artery Pancreatitis Acanthosis nigricans Polycystic ovaries Increased LDL cholesterol concentration Hyperglycemia Loss of gluteal subcutaneous adipose tissue Loss of subcutaneous adipose tissue in limbs Prominent superficial veins Insulin-resistant diabetes mellitus Abnormality of the musculature Coloboma Decreased HDL cholesterol concentration Iris flocculi Obesity Reduced subcutaneous adipose tissue Lipodystrophy Infertility Hyperinsulinemia Absent eyebrow Pes planus Arachnodactyly Aplasia/Hypoplasia of the eyebrow Premature graying of hair Emphysema Bruising susceptibility High, narrow palate Pneumothorax Tall stature Ischemic stroke Cardiomyopathy Abnormality of the sternum Abnormality iris morphology Hemoptysis Hypovolemia Dural ectasia Intracranial hemorrhage Prenatal maternal abnormality Sparse scalp hair Abnormality of connective tissue Ventricular hypertrophy Transient ischemic attack Sparse hair Subarachnoid hemorrhage Seizures Basal cell carcinoma Maternal diabetes Thin skin Abnormality of the face Generalized hirsutism Skeletal muscle hypertrophy Aplasia/Hypoplasia of the skin Secondary amenorrhea Hyperuricemia Oligomenorrhea Preeclampsia Amenorrhea Abnormality of the neck Hyperlipoproteinemia Calf muscle pseudohypertrophy Dysmenorrhea Loss of facial adipose tissue Eclampsia Prominent veins on trunk Abnormality of skeletal muscle fiber size Primary amenorrhea Hirsutism Scleroderma Papillary renal cell carcinoma Prematurely aged appearance Absent eyelashes Premature skin wrinkling Alopecia universalis Inguinal hernia Squamous cell carcinoma of the skin Abnormality of the pulmonary artery Mitral valve calcification Coronary artery stenosis Cirrhosis Loss of eyelashes Pulmonary carcinoid tumor Abnormality of the intrahepatic bile duct Myopathy Splenomegaly Hepatosplenomegaly Myalgia Hypertrophic cardiomyopathy Retrognathia Myocardial steatosis Hypertelorism Abnormality of the liver Cataract Elevated alkaline phosphatase Nephrocalcinosis Bone pain Nephrolithiasis Left ventricular hypertrophy Osteoarthritis Recurrent fractures Pain Neoplasm Hearing impairment Oligospermia Azoospermia Type II diabetes mellitus Intellectual disability Pectus excavatum Cardiac arrest Arrhythmia Paralysis Tachycardia Postural instability Syncope Atrial fibrillation Ventricular arrhythmia Moyamoya phenomenon Atrioventricular block Prolonged QT interval Pulmonary embolism Paroxysmal atrial fibrillation Torsade de pointes Ascending tubular aorta aneurysm Flexion contracture Retinal detachment Scoliosis Ketoacidosis Cerebral artery atherosclerosis Abnormal internal carotid artery morphology Abnormal eye physiology Abnormality of the cardiovascular system Glucose intolerance Truncal obesity Abdominal obesity Premature arteriosclerosis Acute pancreatitis Absence of subcutaneous fat Increased adipose tissue around the neck Eruptive xanthomas Increased facial adipose tissue Increased subcutaneous truncal adipose tissue Abnormal tendon morphology Abnormality of nervous system physiology Coarctation of aorta Optic neuropathy Hypoplastic left heart Cystic medial necrosis Dyspnea Arthralgia Sudden cardiac death Heart murmur Angina pectoris Coronary artery aneurysm Precocious atherosclerosis Renal artery stenosis Supravalvular aortic stenosis Tendon xanthomatosis Renal steatosis Calcification of the aorta Marked muscular hypertrophy


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