MCID: HYP534
MIFTS: 29

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 54 13
Homg3 12 56 71
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Without Severe Ocular Involvement 12 56
Fhhnc Without Severe Ocular Involvement 12 56
Renal Hypomagnesemia Type 3 12 56
Primary Hypomagnesemia Due to Defect in Renal Tubular Transport of Magnesium 12
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis 71
Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis 71
Isolated Renal Hypomagnesemia 12
Primary Hypomagnesemia 69
Renal Hypomagnesemia 3 12
Hypomagnesemia 3 71
Fhhnc 71
Hhn 71

Characteristics:

Orphanet epidemiological data:

56
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult;

OMIM:

54
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:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Hypomagnesemia 3, Renal

OMIM : 54
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 primary hypomagnesemia, and has symptoms including failure to thrive, nystagmus and strabismus. An important gene associated with Hypomagnesemia 3, Renal is CLDN16 (Claudin 16). The drugs Magnesium Sulfate and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include kidney.

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.

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 3, Renal family:

Hypomagnesemia 4, Renal Hypomagnesemia 6, Renal
Hypomagnesemia 2, Renal

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

id Related Disease Score Top Affiliating Genes
1 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.6
2 primary hypomagnesemia 11.0
3 hypomagnesemia 5, renal, with ocular involvement 10.9

Symptoms & Phenotypes for Hypomagnesemia 3, Renal

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Head And Neck- Eyes:
nystagmus
strabismus
myopia
astigmatism
hyperopia

Genitourinary- Bladder:
recurrent urinary tract infections

Neurologic- Central Nervous System:
seizures

Metabolic Features:
polydipsia
incomplete distal renal tubular acidosis

Abdomen- Gastroin testinal:
feeding problems
abdominal pain

Genitourinary- Kidneys:
nephrolithiasis
nephrocalcinosis
renal calcium wasting
renal magnesium wasting
renal failure
more
Laboratory- Abnormalities:
hypomagnesemia
normal serum calcium
hypermagnesiuria
hypercalciuria
hematuria
more
Muscle Soft Tissue:
tetany


Clinical features from OMIM:

248250

Human phenotypes related to Hypomagnesemia 3, Renal:

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

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 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium Sulfate Approved, Vet_approved 7487-88-9 24083
2 Pharmaceutical Solutions
3 Analgesics
4 Anesthetics
5 Anti-Arrhythmia Agents
6 Anticonvulsants
7 calcium channel blockers
8 Calcium, Dietary
9 Central Nervous System Depressants
10 Peripheral Nervous System Agents
11 Tocolytic Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Magnesium Replacement Therapy to Prevent Acute Renal Failure in Critically Ill Patients Completed NCT01700998 Magnesium;Placebo
2 Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter Completed NCT02035046
3 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:

39
Kidney

Publications for Hypomagnesemia 3, Renal

Variations for Hypomagnesemia 3, Renal

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

71 (show all 18)
id 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 16)
id 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.715G> A (p.Gly239Arg) single nucleotide variant Pathogenic rs104893721 GRCh37 Chromosome 3, 190126225: 190126225
3 CLDN16 NM_006580.3(CLDN16): c.571G> A (p.Gly191Arg) single nucleotide variant Pathogenic rs104893722 GRCh37 Chromosome 3, 190122694: 190122694
4 CLDN16 NM_006580.3(CLDN16): c.593G> A (p.Gly198Asp) single nucleotide variant Pathogenic rs104893723 GRCh37 Chromosome 3, 190126103: 190126103
5 CLDN16 NM_006580.3(CLDN16): c.212T> G (p.Met71Arg) single nucleotide variant Pathogenic rs104893724 GRCh37 Chromosome 3, 190106120: 190106120
6 CLDN16 NM_006580.3(CLDN16): c.500T> C (p.Leu167Pro) single nucleotide variant Pathogenic rs104893725 GRCh37 Chromosome 3, 190122623: 190122623
7 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic rs104893726 GRCh37 Chromosome 3, 190126205: 190126205
8 CLDN16 NM_006580.3(CLDN16): c.698G> A (p.Gly233Asp) single nucleotide variant Pathogenic rs104893727 GRCh37 Chromosome 3, 190126208: 190126208
9 CLDN16 NM_006580.3(CLDN16): c.704C> T (p.Ser235Phe) single nucleotide variant Pathogenic rs104893728 GRCh37 Chromosome 3, 190126214: 190126214
10 CLDN16 NM_006580.3(CLDN16): c.453G> T (p.Leu151Phe) single nucleotide variant Pathogenic rs104893729 GRCh37 Chromosome 3, 190122576: 190122576
11 CLDN16 NM_006580.3(CLDN16): c.452T> G (p.Leu151Trp) single nucleotide variant Pathogenic rs104893730 GRCh37 Chromosome 3, 190122575: 190122575
12 CLDN16 NM_006580.3(CLDN16): c.434T> C (p.Leu145Pro) single nucleotide variant Pathogenic rs104893731 GRCh37 Chromosome 3, 190122557: 190122557
13 CLDN16 NM_006580.3(CLDN16): c.350G> A (p.Trp117Ter) single nucleotide variant Pathogenic rs104893732 GRCh37 Chromosome 3, 190120151: 190120151
14 CLDN16 CLDN16, LEU151PRO undetermined variant Pathogenic
15 CLDN16 NM_006580.3(CLDN16): c.831T> G (p.Tyr277Ter) single nucleotide variant Pathogenic rs121908543 GRCh37 Chromosome 3, 190127738: 190127738
16 CLDN16 NM_006580.3(CLDN16): c.823A> T (p.Lys275Ter) single nucleotide variant Pathogenic rs387906880 GRCh37 Chromosome 3, 190127730: 190127730

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
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....