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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessHypomagnesiämie, hyperkalziurisch; Differentialdiagnose

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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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CASR3237AD, AR
CLDN16918AR
CLDN19675AR

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