Hypertension, and Hypertrophic cardiomyopathy

Diseases related with Hypertension and Hypertrophic cardiomyopathy

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

Top matches:

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Dyspnea
  • Hypertrophic cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Dyspnea
  • Hypertrophic cardiomyopathy


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 Is also known as cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure
  • Hypertrophic cardiomyopathy


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8

Other less relevant matches:

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

PLATELET GLYCOPROTEIN IV DEFICIENCY Is also known as cd36 deficiency|bdplt10|bleeding disorder, platelet-type, 10

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Thrombocytopenia
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy


SOURCES: OMIM MESH MENDELIAN

More info about PLATELET GLYCOPROTEIN IV DEFICIENCY

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Medium match TAKAYASU ARTERITIS

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

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

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Hypertension and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Left ventricular hypertrophy Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Hypertrophic cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventricular hypertrophy Dilated cardiomyopathy Dyspnea Gait disturbance Fatigue Myalgia Dilatation Chest pain

Rare Symptoms - Less than 30% cases

Hypertriglyceridemia Insulin resistance Mental deterioration Myocardial infarction Exercise intolerance Skeletal muscle atrophy Respiratory insufficiency Asymmetric septal hypertrophy Arrhythmia Elevated serum creatine phosphokinase Proximal muscle weakness Back pain Skeletal muscle hypertrophy Retinopathy Pain Hepatomegaly Aortic regurgitation Exertional dyspnea Restrictive cardiomyopathy Atrial fibrillation Left atrial enlargement Sudden cardiac death Fever Palpitations Endocardial fibrosis Loss of subcutaneous adipose tissue in limbs Preeclampsia Secondary amenorrhea Hyperuricemia Loss of facial adipose tissue Insulin-resistant diabetes mellitus Oligomenorrhea Maternal diabetes Abnormality of the neck Dysmenorrhea Calf muscle pseudohypertrophy Prominent superficial veins Aplasia/Hypoplasia of the skin Xanthomatosis Decreased HDL cholesterol concentration Hyperlipoproteinemia Suicidal ideation Abnormality of the musculature Myocardial fibrosis Lipoatrophy Thin skin Splenomegaly Diabetes mellitus Hepatosplenomegaly Infertility Cirrhosis Hirsutism Hepatic steatosis Amenorrhea Epidermal acanthosis Primary amenorrhea Abnormality of the face Eclampsia Generalized hirsutism Acanthosis nigricans Pancreatitis Atherosclerosis Increased cerebral lipofuscin Polycystic ovaries Lipodystrophy Hyperinsulinemia Hyperglycemia Coronary artery atherosclerosis Reduced subcutaneous adipose tissue Macular hypopigmentation Left ventricular systolic dysfunction Prominent veins on trunk Cone/cone-rod dystrophy Cardiomegaly Psychosis Decreased liver function Cardiac arrest Hyperlipidemia Muscle flaccidity Autophagic vacuoles Ventricular tachycardia Skeletal myopathy Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Progressive visual loss Ventricular arrhythmia Abnormal electroretinogram Neurodevelopmental delay Generalized amyotrophy Abnormal retinal morphology Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Myofibrillar myopathy Reduced ejection fraction Pigmentary retinopathy Distal sensory impairment Wolff-Parkinson-White syndrome Visual loss Abnormality of skeletal muscle fiber size Loss of gluteal subcutaneous adipose tissue Marked muscular hypertrophy Intellectual disability Global developmental delay Cognitive impairment Visual impairment Myopia Respiratory distress Depressivity Pes cavus Distal amyotrophy Hyperactivity Increased inflammatory response Myocardial necrosis Ventricular preexcitation Impaired myocardial contractility Abnormality of the eye Abnormality of the liver Scarring Exercise-induced muscle cramps Retinal pigment epithelial mottling Limb muscle weakness Reduced visual acuity Subcutaneous nodule Hypertensive crisis Sensorineural hearing impairment Thrombocytopenia Abnormal bleeding Spontaneous abortion Purpura Prolonged bleeding time Abnormality of the endocrine system Macrothrombocytopenia Giant platelets Ataxia Peripheral neuropathy Bicuspid pulmonary valve Hyperreflexia Intellectual disability, severe Abnormality of cardiovascular system morphology Encephalopathy Increased serum lactate Febrile seizures EMG abnormality Ragged-red muscle fibers Slurred speech Ophthalmoparesis Thoracic aorta calcification Abnormality of the left ventricular outflow tract Progressive sensorineural hearing impairment Aortic aneurysm Mitral regurgitation Abnormality of the mitochondrion Ventricular fibrillation T-wave inversion Ventricular septal defect Atrial septal defect Abnormal heart morphology Coarctation of aorta Aortic valve stenosis Bicuspid aortic valve Heart murmur Mitral atresia Hypoplastic left heart Double outlet right ventricle Aortic dissection Mitral stenosis Thoracic aortic aneurysm Aortic valve calcification Aortic arch aneurysm Ascending aortic dissection Hypoplastic aortic arch Cystic medial necrosis Multiple lipomas Progressive external ophthalmoplegia Arteritis Hemoptysis Arthritis Neurological speech impairment Migraine Pulmonary arterial hypertension Anorexia Skin ulcer Vasculitis Psoriasiform dermatitis Abnormal heart valve morphology Gangrene Weight loss Cerebral ischemia Reduced consciousness/confusion Abnormal aortic valve morphology Inflammatory abnormality of the eye Abnormal pattern of respiration Arterial stenosis Ascending tubular aorta aneurysm Abnormal endocardium morphology Amaurosis fugax Gastrointestinal infarctions Arthralgia Hyperhidrosis Mild global developmental delay Muscular dystrophy Lower limb pain Increased serum pyruvate Increased adipose tissue Scoliosis Ptosis Flexion contracture Dysphagia Short neck Respiratory failure Rigidity Scapular winging Anemia Dysphonia Spinal rigidity Rimmed vacuoles Limb-girdle muscle weakness Axial muscle weakness Stiff neck Scapuloperoneal weakness Limited neck flexion Hip flexor weakness Seizures Glycogen accumulation in muscle fiber lysosomes


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