MCID: HYP534
MIFTS: 37

Hypomagnesemia 3, Renal

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

Aliases & Classifications for Hypomagnesemia 3, Renal

MalaCards integrated aliases for Hypomagnesemia 3, Renal:

Name: Hypomagnesemia 3, Renal 53 13
Homg3 53 12 55 71
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Without Severe Ocular Involvement 12 55
Fhhnc Without Severe Ocular Involvement 12 55
Renal Hypomagnesemia Type 3 12 55
Hypomagnesemia, Primary, Due to Defect in Renal Tubular Transport of Magnesium 53
Primary Hypomagnesemia Due to Defect in Renal Tubular Transport of Magnesium 12
Hypomagnesemia, Familial, with Hypercalciuria and Nephrocalcinosis 53
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 71
Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis 71
Hypomagnesemia, Isolated Renal 53
Isolated Renal Hypomagnesemia 12
Primary Hypomagnesemia 69
Renal Hypomagnesemia 3 12
Hypomagnesemia 3 71
Fhhnc 71
Hhn 71

Characteristics:

Orphanet epidemiological data:

55
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult;

OMIM:

53
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:

31
hypomagnesemia 3, renal:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypomagnesemia 3, Renal

OMIM : 53 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 seizures, abdominal pain and polyuria. 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.

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.

UniProtKB/Swiss-Prot : 71 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.

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 11.9
2 hypomagnesemia 2, renal 11.1
3 hypomagnesemia 5, renal, with ocular involvement 11.0
4 hypercalciuria, absorptive, 2 10.8
5 nephrocalcinosis 10.8

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:

53
Neurologic Central Nervous System:
seizures

Genitourinary Kidneys:
polyuria
nephrocalcinosis
nephrolithiasis
renal calcium wasting
renal failure
more
Head And Neck Eyes:
nystagmus
strabismus
myopia
astigmatism
hyperopia

Laboratory Abnormalities:
hyperuricemia
hypercalciuria
hematuria
hypomagnesemia
hypermagnesiuria
more
Genitourinary Bladder:
recurrent urinary tract infections

Abdomen Gastroin testinal:
abdominal pain
feeding problems

Metabolic Features:
polydipsia
incomplete distal renal tubular acidosis

Growth Other:
failure to thrive

Muscle Soft Tissue:
tetany


Clinical features from OMIM:

248250

Human phenotypes related to Hypomagnesemia 3, Renal:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 abdominal pain 31 HP:0002027
3 polyuria 31 HP:0000103
4 polydipsia 31 HP:0001959
5 nystagmus 31 HP:0000639
6 failure to thrive 31 HP:0001508
7 feeding difficulties in infancy 31 HP:0008872
8 hyperuricemia 31 HP:0002149
9 strabismus 31 HP:0000486
10 myopia 31 HP:0000545
11 hypercalciuria 31 HP:0002150
12 hematuria 31 HP:0000790
13 tetany 31 HP:0001281
14 nephrocalcinosis 31 HP:0000121
15 nephrolithiasis 31 HP:0000787
16 recurrent urinary tract infections 31 HP:0000010
17 astigmatism 31 HP:0000483
18 renal tubular acidosis 31 HP:0001947
19 hypermetropia 31 HP:0000540
20 hypomagnesemia 31 HP:0002917
21 chronic kidney disease 31 HP:0012622
22 renal calcium wasting 31 HP:0012637
23 hypermagnesiuria 31 HP:0012608
24 renal magnesium wasting 31 HP:0005567
25 hypocitraturia 31 HP:0012405

UMLS symptoms related to Hypomagnesemia 3, Renal:


polydipsia, seizures, polyuria, abdominal pain

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 7487-88-9 24083
2 Analgesics
3 Anesthetics
4 Anti-Arrhythmia Agents
5 Anticonvulsants
6 calcium channel blockers
7 Calcium, Dietary
8 Central Nervous System Depressants
9 Peripheral Nervous System Agents
10 Tocolytic Agents

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 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:

38
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
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry. ( 25366522 )
2014
5
Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement. ( 25182135 )
2014
6
Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 25410674 )
2014
7
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
8
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene. ( 23538362 )
2013
9
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 23301036 )
2013
10
Correction: Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis. ( 24137494 )
2013
11
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. ( 22422540 )
2012
12
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations. ( 21633858 )
2012
13
Impaired paracellular ion transport in the loop of Henle causes familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 22731731 )
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 in 2 sisters. ( 18327378 )
2008
17
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. ( 18003771 )
2008
18
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings. ( 18253757 )
2008
19
Two cases of familial hypomagnesemia with hypercalciuria and nephrocalcinosis: dental findings. ( 17078738 )
2006
20
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
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:

71 (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 all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLDN16 NM_006580.3(CLDN16): c.823A> T (p.Lys275Ter) single nucleotide variant Pathogenic rs387906880 GRCh37 Chromosome 3, 190127730: 190127730
2 CLDN16 NM_006580.3(CLDN16): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs104893720 GRCh37 Chromosome 3, 190122568: 190122568
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.571G> A (p.Gly191Arg) single nucleotide variant Pathogenic rs104893722 GRCh37 Chromosome 3, 190122694: 190122694
5 CLDN16 NM_006580.3(CLDN16): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs104893723 GRCh37 Chromosome 3, 190126103: 190126103
6 CLDN16 NM_006580.3(CLDN16): c.212T> G (p.Met71Arg) single nucleotide variant Pathogenic rs104893724 GRCh37 Chromosome 3, 190106120: 190106120
7 CLDN16 NM_006580.3(CLDN16): c.500T> C (p.Leu167Pro) single nucleotide variant Pathogenic rs104893725 GRCh37 Chromosome 3, 190122623: 190122623
8 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic rs104893726 GRCh37 Chromosome 3, 190126205: 190126205
9 CLDN16 NM_006580.3(CLDN16): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs104893727 GRCh37 Chromosome 3, 190126208: 190126208
10 CLDN16 NM_006580.3(CLDN16): c.704C> T (p.Ser235Phe) single nucleotide variant Pathogenic rs104893728 GRCh37 Chromosome 3, 190126214: 190126214
11 CLDN16 NM_006580.3(CLDN16): c.453G> T (p.Leu151Phe) single nucleotide variant Pathogenic rs104893729 GRCh37 Chromosome 3, 190122576: 190122576
12 CLDN16 NM_006580.3(CLDN16): c.452T> G (p.Leu151Trp) single nucleotide variant Pathogenic rs104893730 GRCh37 Chromosome 3, 190122575: 190122575
13 CLDN16 NM_006580.3(CLDN16): c.434T> C (p.Leu145Pro) single nucleotide variant Pathogenic rs104893731 GRCh37 Chromosome 3, 190122557: 190122557
14 CLDN16 NM_006580.3(CLDN16): c.350G> A (p.Trp117Ter) single nucleotide variant Pathogenic rs104893732 GRCh37 Chromosome 3, 190120151: 190120151
15 CLDN16 CLDN16, LEU151PRO undetermined variant Pathogenic
16 CLDN16 NM_006580.3(CLDN16): c.831T> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121908543 GRCh37 Chromosome 3, 190127738: 190127738
17 CLDN16 NM_006580.3(CLDN16): c.678delT (p.Gly227Valfs) deletion Pathogenic GRCh37 Chromosome 3, 190126188: 190126188

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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
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41 MeSH
42 MESH via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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