Gitelman syndrome

Preferred Label : Gitelman syndrome;

Symbol : GTLMNS;

CISMeF acronym : GTLMNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Potassium and magnesium depletion;

Description : Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). For a complete description of Bartter syndrome and a discussion of related disorders, see 607364. See also pseudoaldosteronism (177200).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3, 600968.0001);

Laboratory abnormalities : Hypokalemia; Hypomagnesemia; Hypocalciuria;

Prefixed ID : #263800;

Details

Origin ID

263800;

UMLS CUI

C0268450;

Currated CISMeF NLP mapping
- Familial hypokalaemia - hypomagnesaemia [ICD-11 More detail]
- Familial hypokalemia-hypomagnesemia (disorder) [Inactive SNOMED CT concept]
- Gitelman Syndrome [NCIt concept]
- Gitelman syndrome [PASCAL descriptor]
- Gitelman syndrome [DO Concept]
- Gitelman syndrome [Disease (Nov.)]
- Gitelman syndrome [ORDO Disease]
- Gitelman syndrome (disorder) [SNOMED CT concept]
- Gitelman's syndrome [MedDRA Preferred Term]
- familial hypokalemia-hypomagnesemia [SNOMED Notion]
- gitelman syndrome [MeSH Descriptor]
- gitelman syndrome [MeSH concept]
DO Cross reference
- Gitelman syndrome [DO Concept]
Genes related to phenotype
- Solute carrier family 12 (sodium/chloride transporter), member 3 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Arthralgia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blurred vision [HPO term]
- Chondrocalcinosis [HPO term]
- Constipation [HPO term]
- Delayed puberty [HPO term]
- Enuresis [HPO term]
- Failure to thrive [HPO term]
- Fatigue [HPO term]
- Generalized muscle weakness [HPO term]
- Growth delay [HPO term]
- Hypocalciuria [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic alkalosis [HPO term]
- Hypomagnesemia [HPO term]
- Hypotension [HPO term]
- Increased circulating renin level [HPO term]
- Juvenile onset [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Nocturia [HPO term]
- Palpitations [HPO term]
- Paralysis [HPO term]
- Paresthesia [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Prolonged QT interval [HPO term]
- Recurrent fever [HPO term]
- Renal magnesium wasting [HPO term]
- Renal potassium wasting [HPO term]
- Rhabdomyolysis [HPO term]
- Salt craving [HPO term]
- Seizure [HPO term]
- Tetany [HPO term]
- Ventricular tachycardia [HPO term]
- Vertigo [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Gitelman syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypokalaemia - hypomagnesaemia [ICD-11 More detail]
- Familial hypokalemia-hypomagnesemia (disorder) [Inactive SNOMED CT concept]
- Gitelman Syndrome [NCIt concept]
- Gitelman syndrome [ORDO Disease]
- Gitelman syndrome [DO Concept]
- Gitelman syndrome [PASCAL descriptor]
- Gitelman syndrome [Disease (Nov.)]
- Gitelman syndrome (disorder) [SNOMED CT concept]
- Gitelman's syndrome [MedDRA Preferred Term]
- familial hypokalemia-hypomagnesemia [SNOMED Notion]
- gitelman syndrome [MeSH Descriptor]
- gitelman syndrome [MeSH concept]

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