MCID: HYP534
MIFTS: 37

Hypomagnesemia 3, Renal

Categories: Genetic diseases, Nephrological diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypomagnesemia 3, Renal

MalaCards integrated aliases for Hypomagnesemia 3, Renal:

Name: Hypomagnesemia 3, Renal 57 13
Homg3 57 12 59 75
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Without Severe Ocular Involvement 12 59
Fhhnc Without Severe Ocular Involvement 12 59
Renal Hypomagnesemia Type 3 12 59
Hypomagnesemia, Primary, Due to Defect in Renal Tubular Transport of Magnesium 57
Primary Hypomagnesemia Due to Defect in Renal Tubular Transport of Magnesium 12
Hypomagnesemia, Familial, with Hypercalciuria and Nephrocalcinosis 57
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 75
Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis 75
Hypomagnesemia, Isolated Renal 57
Isolated Renal Hypomagnesemia 12
Hypomagnesemia, Type 3, Renal 40
Primary Hypomagnesemia 73
Renal Hypomagnesemia 3 12
Hypomagnesemia 3 75
Fhhnc 75
Hhn 75

Characteristics:

Orphanet epidemiological data:

59
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia
hypercalciuria and/or nephrolithiasis occurs in heterozygotes


HPO:

32
hypomagnesemia 3, renal:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypomagnesemia 3, Renal

OMIM : 57 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014). (248250)

MalaCards based summary : Hypomagnesemia 3, Renal, also known as homg3, is related to familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis and hypomagnesemia 2, renal, and has symptoms including abdominal pain, polyuria and seizures. An important gene associated with Hypomagnesemia 3, Renal is CLDN16 (Claudin 16). The drugs Magnesium Sulfate and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are recurrent urinary tract infections and polyuria

UniProtKB/Swiss-Prot : 75 Hypomagnesemia 3: A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis. Recurrent urinary tract infections and kidney stones are often observed. In spite of hypercalciuria, patients do not show hypocalcemia.

Disease Ontology : 12 A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material basis in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.

Related Diseases for Hypomagnesemia 3, Renal

Diseases in the Hypomagnesemia 2, Renal family:

Hypomagnesemia 3, Renal Hypomagnesemia 4, Renal
Hypomagnesemia 6, Renal

Diseases related to Hypomagnesemia 3, Renal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.7
2 hypomagnesemia 2, renal 11.3
3 hypomagnesemia 5, renal, with ocular involvement 11.0
4 nephrocalcinosis 10.8
5 rickets 10.1
6 chondrocalcinosis 10.1
7 hyperparathyroidism 10.1
8 slipped capital femoral epiphysis 10.1

Graphical network of the top 20 diseases related to Hypomagnesemia 3, Renal:



Diseases related to Hypomagnesemia 3, Renal

Symptoms & Phenotypes for Hypomagnesemia 3, Renal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
strabismus
myopia
astigmatism
hyperopia

Growth Other:
failure to thrive

Laboratory Abnormalities:
hyperuricemia
hypercalciuria
hematuria
hypomagnesemia
hypermagnesiuria
more
Muscle Soft Tissue:
tetany

Genitourinary Bladder:
recurrent urinary tract infections

Neurologic Central Nervous System:
seizures

Metabolic Features:
polydipsia
incomplete distal renal tubular acidosis

Abdomen Gastrointestinal:
abdominal pain
feeding problems

Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
renal calcium wasting
renal failure
polyuria
more

Clinical features from OMIM:

248250

Human phenotypes related to Hypomagnesemia 3, Renal:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 recurrent urinary tract infections 32 HP:0000010
2 polyuria 32 HP:0000103
3 nephrocalcinosis 32 HP:0000121
4 astigmatism 32 HP:0000483
5 strabismus 32 HP:0000486
6 hypermetropia 32 HP:0000540
7 myopia 32 HP:0000545
8 nystagmus 32 HP:0000639
9 nephrolithiasis 32 HP:0000787
10 hematuria 32 HP:0000790
11 seizures 32 HP:0001250
12 tetany 32 HP:0001281
13 failure to thrive 32 HP:0001508
14 renal tubular acidosis 32 HP:0001947
15 polydipsia 32 HP:0001959
16 abdominal pain 32 HP:0002027
17 hyperuricemia 32 HP:0002149
18 hypercalciuria 32 HP:0002150
19 hypomagnesemia 32 HP:0002917
20 renal magnesium wasting 32 HP:0005567
21 feeding difficulties in infancy 32 HP:0008872
22 hypocitraturia 32 HP:0012405
23 hypermagnesiuria 32 HP:0012608
24 chronic kidney disease 32 HP:0012622
25 renal calcium wasting 32 HP:0012637

UMLS symptoms related to Hypomagnesemia 3, Renal:


abdominal pain, polyuria, seizures, polydipsia

Drugs & Therapeutics for Hypomagnesemia 3, Renal

Drugs for Hypomagnesemia 3, Renal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Investigational, Vet_approved Not Applicable 7487-88-9 24083
2 Analgesics Not Applicable
3 Anesthetics Not Applicable
4 Anti-Arrhythmia Agents Not Applicable
5 Anticonvulsants Not Applicable
6 calcium channel blockers Not Applicable
7 Calcium, Dietary Not Applicable
8 Central Nervous System Depressants Not Applicable
9 Peripheral Nervous System Agents Not Applicable
10 Tocolytic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill Patients Terminated NCT01426165 Not Applicable Magnesium Sulfate

Search NIH Clinical Center for Hypomagnesemia 3, Renal

Genetic Tests for Hypomagnesemia 3, Renal

Anatomical Context for Hypomagnesemia 3, Renal

MalaCards organs/tissues related to Hypomagnesemia 3, Renal:

41
Kidney

Publications for Hypomagnesemia 3, Renal

Articles related to Hypomagnesemia 3, Renal:

(show all 25)
# Title Authors Year
1
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair. ( 27007868 )
2016
2
First Report of a Novel Missense CLDN19 Mutations Causing Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in a Chinese Family. ( 25555744 )
2015
3
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25720051 )
2015
4
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25410674 )
2014
5
Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement. ( 25182135 )
2014
6
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry. ( 25366522 )
2014
7
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene. ( 23538362 )
2013
8
Bilateral slipped capital femoral epiphysis in a male adolescent with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), chronic renal failure, and severe hyperparathyroidism. ( 23455761 )
2013
9
Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis. ( 24137494 )
2013
10
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 23301036 )
2013
11
Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 22731731 )
2012
12
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. ( 22422540 )
2012
13
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations. ( 21633858 )
2012
14
A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. ( 21848011 )
2011
15
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. ( 19165416 )
2009
16
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings. ( 18253757 )
2008
17
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 18003771 )
2008
18
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in 2 sisters. ( 18327378 )
2008
19
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail. ( 16501001 )
2006
20
Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findings. ( 17078738 )
2006
21
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. ( 16047219 )
2005
22
[Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]. ( 15574250 )
2004
23
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 12720080 )
2003
24
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 11518780 )
2001
25
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 7637271 )
1995

Variations for Hypomagnesemia 3, Renal

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 3, Renal:

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CLDN16 p.Gly239Arg VAR_008172 rs104893721
2 CLDN16 p.Met71Arg VAR_008173 rs104893724
3 CLDN16 p.Leu167Pro VAR_008174 rs104893725
4 CLDN16 p.Gly191Arg VAR_008175 rs104893722
5 CLDN16 p.Gly198Asp VAR_008176 rs104893723
6 CLDN16 p.Phe232Cys VAR_008177 rs104893726
7 CLDN16 p.Gly233Asp VAR_008178 rs104893727
8 CLDN16 p.Ser235Phe VAR_008179 rs104893728
9 CLDN16 p.His141Asp VAR_017228
10 CLDN16 p.Leu145Pro VAR_017229 rs104893731
11 CLDN16 p.Arg149Leu VAR_017230
12 CLDN16 p.Leu151Phe VAR_017231 rs104893729
13 CLDN16 p.Leu151Pro VAR_017232
14 CLDN16 p.Leu151Trp VAR_017233 rs104893730
15 CLDN16 p.Gly198Ala VAR_017234
16 CLDN16 p.Ala209Thr VAR_017235
17 CLDN16 p.Arg216Thr VAR_017236
18 CLDN16 p.Ser235Pro VAR_017237

ClinVar genetic disease variations for Hypomagnesemia 3, Renal:

6
(show top 50) (show all 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLDN16 NM_006580.3(CLDN16): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs104893720 GRCh37 Chromosome 3, 190122568: 190122568
2 CLDN16 NM_006580.3(CLDN16): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs104893720 GRCh38 Chromosome 3, 190404779: 190404779
3 CLDN16 NM_006580.3(CLDN16): c.715G> A (p.Gly239Arg) single nucleotide variant Pathogenic rs104893721 GRCh37 Chromosome 3, 190126225: 190126225
4 CLDN16 NM_006580.3(CLDN16): c.715G> A (p.Gly239Arg) single nucleotide variant Pathogenic rs104893721 GRCh38 Chromosome 3, 190408436: 190408436
5 CLDN16 NM_006580.3(CLDN16): c.571G> A (p.Gly191Arg) single nucleotide variant Pathogenic rs104893722 GRCh37 Chromosome 3, 190122694: 190122694
6 CLDN16 NM_006580.3(CLDN16): c.571G> A (p.Gly191Arg) single nucleotide variant Pathogenic rs104893722 GRCh38 Chromosome 3, 190404905: 190404905
7 CLDN16 NM_006580.3(CLDN16): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs104893723 GRCh37 Chromosome 3, 190126103: 190126103
8 CLDN16 NM_006580.3(CLDN16): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs104893723 GRCh38 Chromosome 3, 190408314: 190408314
9 CLDN16 NM_006580.3(CLDN16): c.212T> G (p.Met71Arg) single nucleotide variant Pathogenic rs104893724 GRCh37 Chromosome 3, 190106120: 190106120
10 CLDN16 NM_006580.3(CLDN16): c.212T> G (p.Met71Arg) single nucleotide variant Pathogenic rs104893724 GRCh38 Chromosome 3, 190388331: 190388331
11 CLDN16 NM_006580.3(CLDN16): c.500T> C (p.Leu167Pro) single nucleotide variant Pathogenic rs104893725 GRCh37 Chromosome 3, 190122623: 190122623
12 CLDN16 NM_006580.3(CLDN16): c.500T> C (p.Leu167Pro) single nucleotide variant Pathogenic rs104893725 GRCh38 Chromosome 3, 190404834: 190404834
13 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic rs104893726 GRCh37 Chromosome 3, 190126205: 190126205
14 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic rs104893726 GRCh38 Chromosome 3, 190408416: 190408416
15 CLDN16 NM_006580.3(CLDN16): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs104893727 GRCh37 Chromosome 3, 190126208: 190126208
16 CLDN16 NM_006580.3(CLDN16): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs104893727 GRCh38 Chromosome 3, 190408419: 190408419
17 CLDN16 NM_006580.3(CLDN16): c.704C> T (p.Ser235Phe) single nucleotide variant Pathogenic rs104893728 GRCh37 Chromosome 3, 190126214: 190126214
18 CLDN16 NM_006580.3(CLDN16): c.704C> T (p.Ser235Phe) single nucleotide variant Pathogenic rs104893728 GRCh38 Chromosome 3, 190408425: 190408425
19 CLDN16 NM_006580.3(CLDN16): c.453G> T (p.Leu151Phe) single nucleotide variant Pathogenic rs104893729 GRCh37 Chromosome 3, 190122576: 190122576
20 CLDN16 NM_006580.3(CLDN16): c.453G> T (p.Leu151Phe) single nucleotide variant Pathogenic rs104893729 GRCh38 Chromosome 3, 190404787: 190404787
21 CLDN16 NM_006580.3(CLDN16): c.452T> G (p.Leu151Trp) single nucleotide variant Pathogenic rs104893730 GRCh37 Chromosome 3, 190122575: 190122575
22 CLDN16 NM_006580.3(CLDN16): c.452T> G (p.Leu151Trp) single nucleotide variant Pathogenic rs104893730 GRCh38 Chromosome 3, 190404786: 190404786
23 CLDN16 NM_006580.3(CLDN16): c.434T> C (p.Leu145Pro) single nucleotide variant Pathogenic rs104893731 GRCh37 Chromosome 3, 190122557: 190122557
24 CLDN16 NM_006580.3(CLDN16): c.434T> C (p.Leu145Pro) single nucleotide variant Pathogenic rs104893731 GRCh38 Chromosome 3, 190404768: 190404768
25 CLDN16 NM_006580.3(CLDN16): c.350G> A (p.Trp117Ter) single nucleotide variant Pathogenic rs104893732 GRCh37 Chromosome 3, 190120151: 190120151
26 CLDN16 NM_006580.3(CLDN16): c.350G> A (p.Trp117Ter) single nucleotide variant Pathogenic rs104893732 GRCh38 Chromosome 3, 190402362: 190402362
27 CLDN16 CLDN16, LEU151PRO undetermined variant Pathogenic
28 CLDN16 NM_006580.3(CLDN16): c.831T> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121908543 GRCh37 Chromosome 3, 190127738: 190127738
29 CLDN16 NM_006580.3(CLDN16): c.831T> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121908543 GRCh38 Chromosome 3, 190409949: 190409949
30 CLDN16 NM_006580.3(CLDN16): c.823A> T (p.Lys275Ter) single nucleotide variant Pathogenic rs387906880 GRCh37 Chromosome 3, 190127730: 190127730
31 CLDN16 NM_006580.3(CLDN16): c.823A> T (p.Lys275Ter) single nucleotide variant Pathogenic rs387906880 GRCh38 Chromosome 3, 190409941: 190409941
32 CLDN16 NM_006580.3(CLDN16): c.324+10T> C single nucleotide variant Benign rs1491994 GRCh37 Chromosome 3, 190106242: 190106242
33 CLDN16 NM_006580.3(CLDN16): c.324+10T> C single nucleotide variant Benign rs1491994 GRCh38 Chromosome 3, 190388453: 190388453
34 CLDN16 NM_006580.3(CLDN16): c.166delG (p.Ala56Leufs) deletion Benign/Likely benign rs368234054 GRCh37 Chromosome 3, 190106074: 190106074
35 CLDN16 NM_006580.3(CLDN16): c.166delG (p.Ala56Leufs) deletion Benign/Likely benign rs368234054 GRCh38 Chromosome 3, 190388285: 190388285
36 CLDN16 NM_006580.3(CLDN16): c.-82A> G single nucleotide variant Uncertain significance rs886058243 GRCh38 Chromosome 3, 190388038: 190388038
37 CLDN16 NM_006580.3(CLDN16): c.-82A> G single nucleotide variant Uncertain significance rs886058243 GRCh37 Chromosome 3, 190105827: 190105827
38 CLDN16 NM_006580.3(CLDN16): c.-6C> T single nucleotide variant Uncertain significance rs557493885 GRCh38 Chromosome 3, 190388114: 190388114
39 CLDN16 NM_006580.3(CLDN16): c.-6C> T single nucleotide variant Uncertain significance rs557493885 GRCh37 Chromosome 3, 190105903: 190105903
40 CLDN16 NM_006580.3(CLDN16): c.255C> G (p.Phe85Leu) single nucleotide variant Likely benign rs149116671 GRCh38 Chromosome 3, 190388374: 190388374
41 CLDN16 NM_006580.3(CLDN16): c.255C> G (p.Phe85Leu) single nucleotide variant Likely benign rs149116671 GRCh37 Chromosome 3, 190106163: 190106163
42 CLDN16 NM_006580.3(CLDN16): c.*761A> G single nucleotide variant Uncertain significance rs886058248 GRCh38 Chromosome 3, 190410797: 190410797
43 CLDN16 NM_006580.3(CLDN16): c.*761A> G single nucleotide variant Uncertain significance rs886058248 GRCh37 Chromosome 3, 190128586: 190128586
44 CLDN16 NM_006580.3(CLDN16): c.*1178C> T single nucleotide variant Uncertain significance rs533709248 GRCh38 Chromosome 3, 190411214: 190411214
45 CLDN16 NM_006580.3(CLDN16): c.*1178C> T single nucleotide variant Uncertain significance rs533709248 GRCh37 Chromosome 3, 190129003: 190129003
46 CLDN16 NM_006580.3(CLDN16): c.-136T> C single nucleotide variant Uncertain significance rs534883127 GRCh38 Chromosome 3, 190387984: 190387984
47 CLDN16 NM_006580.3(CLDN16): c.-136T> C single nucleotide variant Uncertain significance rs534883127 GRCh37 Chromosome 3, 190105773: 190105773
48 CLDN16 NM_006580.3(CLDN16): c.-5G> A single nucleotide variant Uncertain significance rs777259905 GRCh38 Chromosome 3, 190388115: 190388115
49 CLDN16 NM_006580.3(CLDN16): c.-5G> A single nucleotide variant Uncertain significance rs777259905 GRCh37 Chromosome 3, 190105904: 190105904
50 CLDN16 NM_006580.3(CLDN16): c.880G> A (p.Glu294Lys) single nucleotide variant Uncertain significance rs756192568 GRCh38 Chromosome 3, 190409998: 190409998

Expression for Hypomagnesemia 3, Renal

Search GEO for disease gene expression data for Hypomagnesemia 3, Renal.

Pathways for Hypomagnesemia 3, Renal

GO Terms for Hypomagnesemia 3, Renal

Sources for Hypomagnesemia 3, Renal

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