IllnessHypomagnesiämie, hyperkalziurisch; Differentialdiagnose
Summary
Short information
Comprehensive differential diagnostic panel for hyperkalciuric Hypomagnesiemia comprising 4 curated genes according to the clinical signs
ID
HP0040
Number of genes
3
Accredited laboratory test
Examined sequence length
4,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Informations about the disease
Clinical Comment
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (ORPHA:306516): CLDN16, CKLDN19
Bartter syndrome (ORPHA:112): CLCNKA
Synonyms
- ALias: Familial hypomagnesemia with secondary hypocalcemia
- Alias: Familial primary hypomagnesemia with hypercalciuria + nephrocalcinosis (CLDN16, CLDN19)
- Alias: Michellis-Castrillo syndrome
- Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
- Allelic: Hyperparathyroidism, neonatal (CASR)
- Allelic: Hypocalcemia, AD (CASR)
- Allelic: Hypocalciuric hypercalcemia, type I (CASR)
- Bartter syndrome, type 3 (CLCNKB)
- Hypocalcemia, AD, with Bartter syndrome (CASR)
- Hypomagnesemia 3, renal (CLDN16)
- Hypomagnesemia 5, renal, with ocular involvement (CLDN19)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E83.4
Bioinformatics and clinical interpretation
No text defined