Rare Cardiology News
Advertisement
Disease Profile
Gitelman syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Childhood
ICD-10
N15.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Potassium and magnesium depletion; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Familial hypokalemia-hypomagnesemia;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders
Summary
Gitelman
Symptoms
A preference for salty foods (salt craving)
Muscle weakness
Fatigue
Limited sports performance or endurance
Episodes of fainting
Cramps
Muscle spasms
Numbness or tingling (such as of the face)
Growth delay
Delayed puberty
Excessive thirst
Abdominal pain
Adults with Gitelman syndrome may also experience dizziness, vertigo, excessive amount of urine, urinating more at night, heart palpitations, joint pain, and vision problems.[3]
Other possible symptoms include low blood pressure, a painful joint condition called, chondrocalcinosis, prolonged QT interval (a rare heart problem that may cause irregular heartbeat, fainting, or sudden death), episodes of elevated body temperature, vomiting, constipation, bed wetting, and paralysis.[3] Additional rare symptoms have been described in single cases.[3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Hypokalemia |
Low blood potassium levels
|
0002900 |
30%-79% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hypomagnesemia |
Low blood magnesium levels
|
0002917 |
Low-to-normal blood pressure | 0002632 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Prolonged QT interval | 0001657 | |
5%-29% of people have these symptoms | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Enuresis | 0000805 | |
Hypermagnesemia |
High blood magnesium levels
|
0002918 |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Metabolic alkalosis | 0200114 | |
Muscle spasm | 0003394 | |
Nausea and vomiting | 0002017 | |
Nocturia | 0000017 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Renal potassium wasting | 0000128 | |
Salt craving | 0030083 | |
1%-4% of people have these symptoms | ||
Abnormal T-wave | 0005135 | |
Arthralgia |
Joint pain
|
0002829 |
Blurred vision | 0000622 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Chondrocalcinosis |
Calcium deposits in joints
|
0000934 |
Constipation | 0002019 | |
Decreased urinary potassium | 0012364 | |
Diabetic ketoacidosis | 0001953 | |
Diarrhea |
Watery stool
|
0002014 |
Excessive daytime somnolence |
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ] |
0001262 |
Focal segmental glomerulosclerosis | 0000097 | |
Focal-onset |
Seizure affecting one half of brain
|
0007359 |
Gout | 0001997 | |
Graves disease | 0100647 | |
Hashimoto thyroiditis | 0000872 | |
Headache |
Headaches
|
0002315 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Insomnia |
Difficulty staying or falling asleep
|
0100785 |
Iron deficiency |
0001891 | |
Maternal diabetes |
gestational diabetes
|
0009800 |
Mitochondrial |
0006789 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Cancer of the pancreas
Pancreatic tumor
[ more ] |
0002894 | |
Palpitations |
Missed heart beat
Skipped heart beat
[ more ] |
0001962 |
Paralysis |
Inability to move
|
0003470 |
Parathyroid adenoma | 0002897 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Pericardial effusion |
Fluid around heart
|
0001698 |
Polydipsia |
Extreme thirst
|
0001959 |
Primary hyperaldosteronism | 0011736 | |
Prolonged PR interval | 0012248 | |
Prominent U wave | 0025072 | |
Raynaud phenomenon | 0030880 | |
Renal Fanconi syndrome | 0001994 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Rhabdomyolysis |
Breakdown of skeletal muscle
|
0003201 |
Scleroderma | 0100324 | |
Seizure | 0001250 | |
ST segment depression | 0012250 | |
Syncope |
Fainting spell
|
0001279 |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ] |
0000360 |
Tubulointerstitial nephritis | 0001970 | |
Type I |
Type 1 diabetes
Type I diabetes
[ more ] |
0100651 |