IllnessHypomagnesiaemia ["Gitelman-like" included], differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Hypomagnesiemia [including "Gitelman-like"] comprising 9 core-candidate genes and altogether 14 curated genes according to the clinical signs
ID
HP0041
Number of genes
14
Accredited laboratory test
Examined sequence length
20,7 kb (Core-/Core-canditate-Genes)
28,0 kb (Extended panel: incl. additional genes)
28,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ATP1A1 | 3072 | NM_000701.8 | AD | |
BSND | 963 | NM_057176.3 | AR | |
CLCNKB | 2064 | NM_000085.5 | AR | |
CLDN16 | 918 | NM_006580.4 | AR | |
CLDN19 | 675 | NM_148960.3 | AR | |
CNNM2 | 2628 | NM_017649.5 | AD, AR | |
KCNJ10 | 1140 | NM_002241.5 | AR | |
SLC12A3 | 3093 | NM_000339.3 | AR | |
TRPM6 | 6069 | NM_017662.5 | AR | |
EGF | 3624 | NM_001963.6 | AR | |
FXYD2 | 201 | NM_001680.5 | AD | |
HNF1B | 1674 | NM_000458.4 | AD | |
KCNA1 | 1488 | NM_000217.3 | AD | |
PCBD1 | 315 | NM_000281.4 | AR |
Informations about the disease
Clinical Comment
Mineral absorption + transport disorder with selective defect in renal/intestinal Mg absorption, resulting in low Mg concentration in blood
Synonyms
- Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
- Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
- Allelic: Episodic ataxia with myokymia/ Episodic ataxia type 1 (KCNA1)
- Allelic: Hypomagnesemia, seizures + mental retardation (CNNM2)
- Allelic: Renal cell carcinoma (HNF1B)
- Allelic: Renal cysts and diabetes syndrome (HNF1B)
- Allelic: Sensorineural deafness with mild renal dysfunction (BSND)
- Bartter syndrome, type 3 (CLCNKB)
- Bartter syndrome, type 4a (BSND)
- Bartter syndrome, type 4b, digenic (CLCNKB)
- Congenital disorder of glycosylation, type IIn (SLC39A8)
- Gitelman syndrome [Potasium + magnesium depletion] (SLC12A3)
- Hyperphenylalaninemia, BH4-deficient, D (PCBD1)
- Hypomagnesemia 1, intestinal (TRPM6)
- Hypomagnesemia 2, renal (FXYD2)
- Hypomagnesemia 3, renal (CLDN16)
- Hypomagnesemia 4, renal (EGF)
- Hypomagnesemia 5, renal, with ocular involvement (CLDN19)
- Hypomagnesemia 6, renal (CNNM2)
- Hypomagnesemia 7, renal, +/- dilated cardiomyopathy (RRAGD)
- Myokymia 1 with/-out hypomagnesemia (KCNA1)
- Renal tubular salt-wasting, hypokalemic metabolic alkalosis with hypomagnesemia + hypocalciuria
- SESAME syndrome (KCNJ10)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined