User Posts: Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Salt Wasting Kidney Tubule Disorder
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A salt-wasting kidney tubule disorder means the tiny tubes in the kidneys cannot take salt back into the blood the way they should. Because salt pulls water, ...

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Classic Bartter Syndrome
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Classic Bartter syndrome is a rare, lifelong, inherited kidney salt-wasting disorder. It mainly happens because a small protein channel in the kidney does not ...

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Adult Bartter Syndrome
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Adult Bartter syndrome is a salt-wasting kidney tubule disorder that usually begins in late childhood, the teen years, or even in adult life. The kidney’s ...

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Bartter Disease Type 3
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Bartter disease type 3 is a rare, inherited kidney condition. The kidneys normally reabsorb salt (sodium chloride) from the urine back into the blood. In type ...

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Lethal Popliteal Pterygium Syndrome (LPPS)
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Lethal popliteal pterygium syndrome (LPPS) is a very rare genetic condition present from birth. Babies are born with tight skin bands or webs across one or ...

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Bartsocas-Papas Syndrome 1 (BPS1)
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Bartsocas-Papas syndrome 1 (BPS1) is a very rare, inherited birth condition. It mainly affects the skin and tissues that come from the outer layer of the ...

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X-linked Cardioskeletal Myopathy and Neutropenia
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X-linked cardioskeletal myopathy and neutropenia is a rare, inherited disease that mainly affects boys. It harms the heart muscle (cardiomyopathy), skeletal ...

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TAZ- Related Dilated Cardiomyopathy
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TAZ-related dilated cardiomyopathy is a heart muscle disease caused by changes (mutations) in the TAFAZZIN (TAZ) gene on the X chromosome. The TAZ gene makes a ...

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Cardioskeletal Myopathy–Neutropenia Syndrome
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Cardioskeletal myopathy–neutropenia syndrome is a rare, inherited condition that mainly affects the heart muscle, skeletal (body) muscles, and white blood ...

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Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 
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Cardioskeletal myopathy with neutropenia and abnormal mitochondria  clinicians know this mostly as Barth syndrome, an ultra-rare, X-linked mitochondrial ...

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3-Methylglutaconic Aciduria Type 2
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3-methylglutaconic aciduria type 2 is a rare, inherited condition that almost always affects boys. It is also called Barth syndrome. It happens because of a ...

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Barth Syndrome
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Barth syndrome is a rare genetic condition that mostly affects boys. It is caused by changes (mutations) in a gene called TAFAZZIN (TAZ) on the X chromosome. ...

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Baroreflex Syndrome
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Baroreflex syndrome—often called afferent baroreflex failure—is a rare problem in the body’s blood-pressure “autopilot.” Normally, stretch sensors in the ...

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Baroreflex Failure
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Baroreflex failure is a disorder of the body’s automatic blood-pressure control system. In healthy people, pressure sensors (baroreceptors) in the carotid ...

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Baryta Miners’ Disease
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Baryta miners’ disease is a lung dust disease that happens after breathing barium sulfate dust for a long time, usually in barite (barytes) mines or dusty jobs ...

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Barium Pneumoconiosis
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Barium pneumoconiosis is a lung condition that happens when a person breathes in barium dust for many months or years, usually at work. The dust is most often ...

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Barium Lung Disease
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Barium lung disease, also called baritosis, is a type of pneumoconiosis (dust-related lung disease) that happens after breathing in barium dust for a long ...

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Baritosis
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Baritosis is a harmless (“benign”) form of pneumoconiosis that happens when people breathe in tiny particles of barium sulfate dust at work (for example, when ...

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Bardet-Biedl Syndrome Caused by Mutation in the BBS9 Gene (BBS9-BBS)
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Bardet-Biedl syndrome caused by mutation in the BBS9 gene (BBS9-BBS) is a rare, inherited disease that affects many organs. It happens because tiny hair-like ...

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Bardet–Biedl Syndrome 9 (BBS9)
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Bardet–Biedl syndrome 9 (BBS9) is a type of Bardet–Biedl syndrome (BBS) that happens when a child inherits harmful changes (pathogenic variants) in the BBS9 ...

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