Edema, and Dyspnea

Diseases related with Edema and Dyspnea

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

Top matches:

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.

INFANT ACUTE RESPIRATORY DISTRESS SYNDROME Is also known as infant ards|rds of prematurity|hyaline membrane disease|neonatal respiratory distress syndrome|hyaline membrane disease, formerly|infant respiratory distress syndrome

Related symptoms:

  • Respiratory distress
  • Edema
  • Premature birth
  • Tachypnea
  • Neonatal respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANT ACUTE RESPIRATORY DISTRESS SYNDROME

Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see {178600}), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008). Genetic Heterogeneity of Pulmonary Venoocclusive DiseaseSee also PVOD2 (OMIM ), caused by mutation in the EIF2AK4 gene (OMIM ) on chromosome 15q15.

PULMONARY VENOOCCLUSIVE DISEASE Is also known as pvod

Related symptoms:

  • Hypertension
  • Edema
  • Congestive heart failure
  • Dyspnea
  • Pulmonary arterial hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY VENOOCCLUSIVE DISEASE

Related symptoms:

  • Pain
  • Respiratory distress
  • Cardiomyopathy
  • Edema
  • Atrial septal defect


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1Y; CMD1Y

Other less relevant matches:

FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY Is also known as familial or idiopathic restrictive cardiomyopathy

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Fatigue
  • Dyspnea
  • Ascites


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY

Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).

Related symptoms:

  • Anemia
  • Respiratory distress
  • Atrial septal defect
  • Edema
  • Hernia


SOURCES: OMIM MENDELIAN

More info about HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 Is also known as arvc1|arrhythmogenic right ventricular cardiomyopathy 1

Related symptoms:

  • Fever
  • Cardiomyopathy
  • Edema
  • Myopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).

FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction|lacrimal puncta, absence of

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Respiratory distress
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

Top 5 symptoms//phenotypes associated to Edema and Dyspnea

Symptoms // Phenotype % cases
Respiratory distress Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Pulmonary edema Uncommon - Between 30% and 50% cases
Tachycardia Uncommon - Between 30% and 50% cases
Syncope Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Dyspnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Atrial fibrillation Left ventricular noncompaction Sudden cardiac death Dilated cardiomyopathy Left ventricular noncompaction cardiomyopathy Peripheral edema Palpitations Ventricular tachycardia Abnormal myocardium morphology

Rare Symptoms - Less than 30% cases

Abnormal left ventricle morphology Ascites Hepatomegaly Hydrops fetalis Arrhythmia Ventricular arrhythmia Bundle branch block Left bundle branch block Myocarditis Abnormal facial shape Left ventricular hypertrophy Atrioventricular block Cardiomyopathy Atrial septal defect Tachypnea Myocardial infarction Decreased activity of the pyruvate dehydrogenase complex Pulmonary embolism Hypoplastic left heart Right bundle branch block Exercise intolerance Mitral regurgitation Patent ductus arteriosus Ventricular septal defect Premature birth Neonatal hypotonia Lactic acidosis Muscular hypotonia of the trunk Concave nasal ridge Acidosis Gait ataxia Dysphagia Muscular hypotonia Nystagmus Generalized hypotonia Global developmental delay Wolff-Parkinson-White syndrome Abnormal thrombosis Restrictive cardiomyopathy Conjunctivitis Dacryocystitis Lacrimal duct atresia Rhinorrhea Nasolacrimal duct obstruction Periorbital edema Nasal obstruction Chronic sinusitis Cellulitis Epiphora Sinusitis Intellectual disability Astigmatism Erythema Recurrent infections Downslanted palpebral fissures Hypertelorism Abnormality of the fascia Noncompaction cardiomyopathy Permanent atrial fibrillation Biventricular hypertrophy Right ventricular failure Seizures Abnormality of the left ventricular outflow tract Sinoatrial block Cardiomegaly Pulmonary arterial hypertension Lymphedema Congenital diaphragmatic hernia Hernia Anemia Ventricular flutter Oliguria Thromboembolism Elevated pulmonary artery pressure Pulmonary venous occlusion Cystic hygroma Abnormal ventricular filling Increased pulmonary vascular resistance Elevated jugular venous pressure Pain Tricuspid regurgitation Heart murmur Fatigue Failure to thrive Hypertrophic cardiomyopathy Pericardial effusion Varicose veins Chest pain Coronary artery atherosclerosis Abnormal right ventricle morphology T-wave inversion in the right precordial leads Dilatation of the ventricular cavity ST segment elevation Right ventricular cardiomyopathy T-wave inversion Myofibrillar myopathy Multiple lipomas Elevated erythrocyte sedimentation rate Neonatal respiratory distress Nonimmune hydrops fetalis Ventricular fibrillation Atelectasis Disseminated intravascular coagulation Cardiac arrest Hypertension Dilatation Myopathy Fever Facial edema Dacryocystocele


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