Edema, and Respiratory insufficiency

Diseases related with Edema and Respiratory insufficiency

In the following list you will find some of the most common rare diseases related to Edema and Respiratory insufficiency 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

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 Is also known as lccs3|multiple contracture syndrome, israeli bedouin type b

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Edema
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Other less relevant matches:

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY Is also known as carbamoyl phosphate synthetase i deficiency|carbamoyl-phosphate synthetase deficiency|cps i deficiency|carbamoyl-phosphate synthetase i deficiency|cps1 deficiency|cps1d

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Respiratory insufficiency

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Fatigue Congestive heart failure Abdominal pain Cerebral edema Acidosis Pain Increased serum lactate Pericardial effusion Ascites Anemia Failure to thrive Hypertension Muscle weakness Skeletal muscle atrophy Neonatal respiratory distress Coma Generalized hypotonia Pulmonary edema Confusion Encephalopathy Cerebral atrophy Babinski sign Dysphagia Compensated hemolytic anemia Schistocytosis Pyropoikilocytosis Recurrent thromboembolism Increased mean corpuscular hemoglobin concentration Portal vein thrombosis Increased intracellular sodium Increased red cell hemolysis by shear stress Spasticity Cognitive impairment Gait disturbance Dysarthria Exercise-induced hemolysis Respiratory distress Chronic hemolytic anemia Thromboembolism Abnormality of the liver Muscular dystrophy Hemolytic anemia Dehydration Hepatitis Hyperbilirubinemia Cholelithiasis Limb-girdle muscular dystrophy Hyperkalemia Reticulocytosis Antiphospholipid antibody positivity Increased serum ferritin Esophageal varix Generalized edema Dementia Elliptocytosis Gastritis Intermittent jaundice Stomatocytosis Hemoglobinuria Spherocytosis Emotional lability Cerebral cortical atrophy Hyperammonemia Irritability Stroke Lethargy Generalized tonic-clonic seizures Hepatic steatosis Focal-onset seizure Generalized-onset seizure Aminoaciduria Focal impaired awareness seizure Muscular hypotonia Diabetes insipidus Alkalosis Microvesicular hepatic steatosis Decerebrate rigidity Respiratory alkalosis Hypoargininemia Protein avoidance Episodic ammonia intoxication Vomiting Intellectual disability Rigidity Amyotrophic lateral sclerosis Aggressive behavior Chorea Neuronal loss in central nervous system Stereotypy Respiratory insufficiency due to muscle weakness Apathy Personality changes Elevated hepatic transaminase Agitation Semantic dementia Global brain atrophy Insomnia Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Disinhibition Primitive reflex Perseveration Bulimia Pallor Tubular atrophy Jaundice Metabolic acidosis Decreased activity of mitochondrial complex IV Intrauterine growth retardation Ventricular septal defect Thrombocytopenia Patent ductus arteriosus Arrhythmia EEG abnormality Oligohydramnios Decreased activity of mitochondrial complex I Decreased liver function Extramedullary hematopoiesis Sideroblastic anemia Nystagmus Strabismus Tremor Developmental regression Abnormality of the cerebral white matter Caesarian section Increased serum pyruvate Tetraparesis Congenital contracture Premature birth Tachypnea Atelectasis Disseminated intravascular coagulation Flexion contracture Arthrogryposis multiplex congenita Pterygium Multiple joint contractures Severe lactic acidosis Neurogenic bladder Multiple pterygia Polyhydramnios Decreased fetal movement Bradycardia Ragged-red muscle fibers Abnormality of mitochondrial metabolism Poor appetite Brain atrophy Progressive neurologic deterioration Splenomegaly Diffuse mesangial sclerosis Hypercholesterolemia Hypoalbuminemia Pyloric stenosis Glomerulosclerosis Focal segmental glomerulosclerosis Hypoproteinemia Abnormality of the renal tubule Delayed eruption of permanent teeth Nephrotic syndrome Steroid-resistant nephrotic syndrome Congenital nephrotic syndrome Mesangial hypercellularity Elevated amniotic fluid alpha-fetoprotein Podocyte foot process effacement Heavy proteinuria Hepatomegaly Fever Hyperlipidemia Abdominal distention Leukoencephalopathy Growth delay Progressive encephalopathy Increased CSF lactate Myelopathy Vegetative state Skin erosion Infantile encephalopathy Encephalomalacia Cerebellar edema Renal insufficiency Stage 5 chronic kidney disease Recurrent infections Hypothyroidism Gastroesophageal reflux Proteinuria Abnormality of the kidney Respiratory tract infection Scarring Small for gestational age Low plasma citrulline


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