Edema, and Mitral valve prolapse

Diseases related with Edema and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Edema and Mitral valve prolapse that can help you solving undiagnosed cases.

Top matches:

X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.

CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Is also known as valvular heart disease, congenital|xmvd|myxomatous valvular dystrophy, x-linked

Related symptoms:

  • Edema
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Mitral valve prolapse
  • Mitral regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1

Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Hernia
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD

Other less relevant matches:

Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.

CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME Is also known as fibrosing serositis, familial|hypertrophic synovitis, congenital familial|pac syndrome|camptodactyly-arthropathy-pericarditis syndrome|arthropathy-camptodactyly syndrome|cacp syndrome|jacobs syndrome|pericarditis-arthropathy-camptodactyly syndrome|cap syn

Related symptoms:

  • Pain
  • Flexion contracture
  • Dyspnea
  • Arthritis
  • Camptodactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Top 5 symptoms//phenotypes associated to Edema and Mitral valve prolapse

Symptoms // Phenotype % cases
Mitral regurgitation Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Tricuspid regurgitation Hydrops fetalis Seizures Atrial septal defect Skin rash Visual loss Stroke Cutis marmorata Inguinal hernia Blue sclerae Scoliosis

Rare Symptoms - Less than 30% cases

Retinal hemorrhage Behavioral abnormality Cognitive impairment Intermittent claudication Premature occlusive vascular stenosis Peau d'orange Abnormality of skin pigmentation Intellectual disability Angioid streaks of the fundus Medial calcification of large arteries Thromboembolism Chest pain Camptodactyly Pectus excavatum Osteoporosis Glaucoma Neonatal hypotonia Myalgia Joint hyperflexibility Arachnodactyly Peripheral arterial stenosis Ischemic stroke Bruising susceptibility Pain Retinal detachment Pulmonary edema Cutis laxa Hyperextensible skin Angina pectoris Exertional dyspnea Arteriosclerosis Medial calcification of medium-sized arteries Hernia Cerebral hemorrhage Atrial fibrillation Aortic regurgitation Mitral stenosis Pulmonic stenosis Myocardial infarction Spontaneous abortion Atherosclerosis Visual impairment Hypertension Pulmonary artery atresia Reduced visual acuity Gastrointestinal hemorrhage Macular degeneration Ventricular septal defect Muscle weakness Cardiac arrest Generalized hypotonia Muscular hypotonia Hypermethioninemia Intellectual disability, progressive Personality disorder Cholelithiasis Biconcave vertebral bodies Ventricular tachycardia Atrioventricular block Progressive muscle weakness Homocystinuria Cerebral edema Myotonia Alzheimer disease Thin ribs Centrally nucleated skeletal muscle fibers Neurofibrillary tangles Abnormal EKG Heart block Facial diplegia Insulin resistance Cerebral atrophy Decreased fetal movement Polyhydramnios Myopathy Intellectual disability, severe Atrial flutter Arrhythmia Respiratory distress Dysphagia Dementia Skeletal muscle atrophy Hypogonadism Cerebral cortical atrophy Respiratory failure Peripheral neuropathy Mental deterioration Premature birth Motor delay Feeding difficulties in infancy Muscular dystrophy Talipes Delayed speech and language development Lower limb muscle weakness Unsteady gait Ptosis Tachycardia Sensory neuropathy Cataract Brain atrophy Nonimmune hydrops fetalis Cerebral calcification Testicular atrophy Restrictive cardiomyopathy Pulmonary insufficiency Excessive wrinkled skin Arterial stenosis Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Lack of skin elasticity Choroidal neovascularization Abnormality of the cerebral vasculature Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Ectopic calcification Abnormal endocardium morphology Telangiectasia of the skin Hyperkeratotic papule Abnormal atrioventricular valve morphology Erythematous papule Subretinal fluid Peripapillary chorioretinal atrophy Generalized arterial calcification Localized skin lesion Arterial calcification Metamorphopsia Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Striae distensae Multiple lipomas First degree atrioventricular block Intrauterine growth retardation Scarring Hypothyroidism Abnormality of cardiovascular system morphology Renal insufficiency Blindness Cardiomyopathy Growth delay Small for gestational age Ring fibers Percussion myotonia Obsessive-compulsive trait Narcolepsy Excessive daytime sleepiness Frontal balding Retinopathy Papule Chorioretinal atrophy Intracranial hemorrhage Abnormal retinal morphology Hypermelanotic macule Coronary artery atherosclerosis Hemiplegia/hemiparesis Acne Abnormality of the thorax Redundant skin Pruritus Nephrocalcinosis Subcutaneous nodule Abnormality of the cardiovascular system Abnormality of the skin Sudden cardiac death Postural instability Precocious atherosclerosis Sclerocornea Generalized osteoporosis Pulmonic valve myxoma Cholestasis Neoplasm of the skin Easy fatigability Heart murmur Dilatation of the cerebral artery Growth hormone excess Subarachnoid hemorrhage Edema of the lower limbs Endocarditis Orthopnea Increased inflammatory response Bacterial endocarditis Cardiac myxoma Flexion contracture Syncope Dyspnea Arthritis Abnormality of the foot Abdominal distention Elbow flexion contracture Coxa vara Pleural effusion Pericardial effusion Abnormal joint morphology Arthropathy Pericarditis Uveitis Juvenile rheumatoid arthritis Cardiomegaly Ascites Wrist flexion contracture Patent foramen ovale Abnormality of metabolism/homeostasis Short chordae tendineae of the mitral valve Short chordae tendineae of the tricuspid valve Abnormal heart morphology Tetralogy of Fallot Aortic valve stenosis Bicuspid aortic valve Aortic aneurysm Subvalvular aortic stenosis Myxomatous mitral valve degeneration Hydronephrosis Abnormal cardiac septum morphology Cyanosis Hydroureter Coma Tricuspid valve prolapse Arteria lusoria Tricuspid atresia Urethral diverticulum Kyphosis High, narrow palate Abnormality of the sternum Calcification of falx cerebri Yellow papule Fever Headache Jaundice Confusion Synovitis Hip pain Transient ischemic attack Aggressive behavior Megalocornea Soft skin Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Failure to thrive Abnormality of the skeletal system Depressivity Kyphoscoliosis Pectus carinatum Hallux valgus Hepatic steatosis Hypopigmentation of the skin Limitation of joint mobility Dental crowding Tall stature Aspiration Pancreatitis Schizophrenia Brittle hair Ectopia lentis Obsessive-compulsive behavior Disproportionate tall stature Pulmonary embolism Keratoconus Increased susceptibility to fractures Pleuritis Sensorineural hearing impairment Flexion contracture of toe Iridocyclitis Constrictive pericarditis Serositis Congenital finger flexion contractures Coxa magna Flattened metatarsal heads Flattened metacarpal heads Synovial hypertrophy Pericardial constriction Digital flexor tenosynovitis Generalized morning stiffness Hearing impairment Cleft palate Corneal dystrophy Gait disturbance Abnormality of the dentition Umbilical hernia Pes planus Conductive hearing impairment Hip dislocation Joint hypermobility Recurrent fractures Microcornea Hip dysplasia High myopia Abnormality of epiphysis morphology Congenital hip dislocation Medial calcification of small arteries


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