ORPHA:358
Gitelman syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gitelman syndrome | |
| fr | Syndrome de Gitelman | |
| de | Gitelman-Syndrom | |
| es | Síndrome de Gitelman | |
| it | Sindrome di Gitelman | |
| nl | Syndroom van Gitelman | |
| pt | Síndrome Gitelman | Hipomagnesémia-hipocaliémia renotubular primária com hipocalciúria |
| pl | Zespół Gitelmana | Pierwotna kanalikowa hipomagnezemia hipokalcemiczna z hipokalcurią |
| cs | Gitelmanův syndrom | Primární renální tubulární hypomagnezémie-hypokalemie s hypokalciurií |
| uk | Синдром Гітельмана | |
| zh | Gitelman综合征 | 原发性肾小管性低钾性低镁血症伴低尿钙 |
| tr | Gitelman sendromu | Hipokalsiüri ile seyreden primer renal tübüler hipokalemik hipomagnezemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263800 | E | validated | |
| ICD-10 | N15.8 | NTBT | attributed | validated |
| ICD-11 | 5C64.41 | NTBT | index | validated |
| MONDO | 0009904 | E | validated | |
| MeSH | D053579 | E | validated | |
| UMLS | C0268450 | E | validated | |
| GARD | 8547 | E | validated | |
| MedDRA | 10062906 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCNKB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2027 | ENSG00000184908 | 602023 | 1p36.13 | chloride voltage-gated channel Kb | 20931281[PMID]_19265611[PMID]_18667063[PMID] |
| SLC12A3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10912 | ENSG00000070915 | 600968 | 16q13 | solute carrier family 12 member 3 | 22169961[PMID]_22990302[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
68 annotations · validated 2019-04-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002900 | Hypokalemia | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001508 | Failure to thrive | |
| HP:0002917 | Hypomagnesemia | |
| HP:0002632 | Low-to-normal blood pressure | |
| HP:0001324 | Muscle weakness | |
| HP:0001657 | Prolonged QT interval | |
| Occasional (29-5%) | ||
| HP:0000823 | Delayed puberty | |
| HP:0000805 | Enuresis | |
| HP:0001952 | Glucose intolerance | |
| HP:0002918 | Hypermagnesemia | |
| HP:0002901 | Hypocalcemia | |
| HP:0000855 | Insulin resistance | |
| HP:0200114 | Metabolic alkalosis | |
| HP:0003394 | Muscle spasm | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000017 | Nocturia | |
| HP:0000093 | Proteinuria | |
| HP:0000128 | Renal potassium wasting | |
| HP:0030083 | Salt craving | |
| Very rare (<4-1%) | ||
| HP:0005135 | Abnormal T-wave | |
| HP:0002829 | Arthralgia | |
| HP:0000622 | Blurred vision | |
| HP:0002514 | Cerebral calcification | |
| HP:0000934 | Chondrocalcinosis | |
| HP:0002019 | Constipation | |
| HP:0012364 | Decreased urinary potassium | |
| HP:0001953 | Diabetic ketoacidosis | |
| HP:0002014 | Diarrhea | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0000097 | Focal segmental glomerulosclerosis | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001997 | Gout | |
| HP:0100647 | Graves disease | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0002315 | Headache | |
| HP:0000975 | Hyperhidrosis | |
| HP:0100785 | Insomnia | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0009800 | Maternal diabetes | |
| HP:0006789 | Mitochondrial encephalopathy | |
| HP:0003326 | Myalgia | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0001962 | Palpitations | |
| HP:0003470 | Paralysis | |
| HP:0002897 | Parathyroid adenoma | |
| HP:0003401 | Paresthesia | |
| HP:0001698 | Pericardial effusion | |
| HP:0001959 | Polydipsia | |
| HP:0011736 | Primary hyperaldosteronism | |
| HP:0012248 | Prolonged PR interval | |
| HP:0025072 | Prominent U wave | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0001994 | Renal Fanconi syndrome | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0002098 | Respiratory distress | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0012250 | ST segment depression | |
| HP:0100324 | Scleroderma | |
| HP:0001279 | Syncope | |
| HP:0000360 | Tinnitus | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0000020 | Urinary incontinence | |
| HP:0002619 | Varicose veins | |
| HP:0001663 | Ventricular fibrillation | |
| HP:0002321 | Vertigo | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28003083[PMID]_30596175[PMID]_19508680[PMID]_30867665[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/358
- This record as JSON: /data/d/358.json