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MCID: BRT004
MIFTS: 56
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Bartter Disease
Categories:
Ear diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Bartter Disease:
Characteristics:Orphanet epidemiological data:58
bartter syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Sweden),1-9/100000 (Kuwait); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Anatomical: Nephrological diseases Ear diseases
ICD10:
33
Orphanet: 58
Rare renal diseases |
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Genetics Home Reference :
25
Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.
In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.
Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness).
Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.
MalaCards based summary : Bartter Disease, also known as bartter syndrome, is related to infantile bartter syndrome with sensorineural deafness and bartter syndrome, type 4a, neonatal, with sensorineural deafness. An important gene associated with Bartter Disease is KCNJ1 (Potassium Inwardly Rectifying Channel Subfamily J Member 1), and among its related pathways/superpathways are Aldosterone-regulated sodium reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Spironolactone and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and cortex, and related phenotypes are short stature and abnormality of metabolism/homeostasis NIH Rare Diseases : 52 Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium , sodium , chloride , and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios ). Affected infants typically do not grow and gain weight as expected (failure to thrive ). Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia ) can cause muscle weakness, cramping, and fatigue. Bartter syndrome is caused by mutations in any one of at least 5 genes and is usually inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the age of onset, severity, and the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on restoring and maintaining the proper balance of fluids and electrolytes in the body. KEGG : 36 Bartter syndrome (BARTS) is a heterogeneous rare disease unified by autosomal recessive transmission. BS is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression. Wikipedia : 74 Bartter syndrome is a rare inherited disease characterised by a defect in the thick ascending limb of... more... |
Human phenotypes related to Bartter Disease:58 31
GenomeRNAi Phenotypes related to Bartter Disease according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Bartter Disease:45
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Drugs for Bartter Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 25)
Interventional clinical trials:
Inferred drug relations via UMLS 71 / NDF-RT 50 :
Cochrane evidence based reviews: bartter syndrome |
Genetic tests related to Bartter Disease:
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MalaCards organs/tissues related to Bartter Disease:40
Kidney,
Bone,
Cortex,
Adrenal Cortex,
Lung,
Brain,
Eye
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Bartter Disease:
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Articles related to Bartter Disease:(show top 50) (show all 706)
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Genes related to Bartter Disease (0 elite genes):(show all 24) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Bartter Disease:6 (show all 21)
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Search
GEO
for disease gene expression data for Bartter Disease.
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Pathways related to Bartter Disease according to KEGG:36
Pathways related to Bartter Disease according to GeneCards Suite gene sharing:
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Cellular components related to Bartter Disease according to GeneCards Suite gene sharing:
Biological processes related to Bartter Disease according to GeneCards Suite gene sharing:(show all 19)
Molecular functions related to Bartter Disease according to GeneCards Suite gene sharing:
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