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

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)

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	Heredity
ATP1A1	3072	182310	AD
BSND	963	606412	AR
CLCNKB	2064	602023	AR
CLDN16	918	603959	AR
CLDN19	675	610036	AR
CNNM2	2628	607803	AD, AR
KCNJ10	1140	602208	AR
SLC12A3	3093	600968	AR
TRPM6	6069	607009	AR
EGF	3624	131530	AR
FXYD2	201	601814	AD
HNF1B	1674	189907	AD
KCNA1	1488	176260	AD
PCBD1	315	126090	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

E83.4

Bioinformatics and clinical interpretation

No text defined