HOMG3
MCID: HYP534
MIFTS: 46

Hypomagnesemia 3, Renal (HOMG3)

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

Aliases & Classifications for Hypomagnesemia 3, Renal

MalaCards integrated aliases for Hypomagnesemia 3, Renal:

Name: Hypomagnesemia 3, Renal 57 13 6
Homg3 57 12 58 72
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Without Severe Ocular Involvement 12 58
Fhhnc Without Severe Ocular Involvement 12 58
Renal Hypomagnesemia Type 3 12 58
Renal Hypomagnesemia 3 12 15
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 72
Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis 72
Hypomagnesemia, Isolated Renal 57
Isolated Renal Hypomagnesemia 12
Hypomagnesemia, Type 3, Renal 39
Primary Hypomagnesemia 70
Hypomagnesemia 3 72
Fhhnc 72
Hhn 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


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). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). 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) (Updated 05-Apr-2021)

MalaCards based summary : Hypomagnesemia 3, Renal, also known as homg3, is related to primary hypomagnesemia and familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis, and has symptoms including seizures, polydipsia and abdominal pain. An important gene associated with Hypomagnesemia 3, Renal is CLDN16 (Claudin 16), and among its related pathways/superpathways are Mineral absorption and Diuretics Pathway, Pharmacodynamics. The drugs Magnesium Sulfate and Anti-Arrhythmia Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney and brain, and related phenotypes are failure to thrive and nystagmus

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 : 72 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 3, Renal family:

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

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 primary hypomagnesemia 30.1 TRPM6 FXYD2 CLDN16 AP1M1
2 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
3 hypomagnesemia 5, renal, with or without ocular involvement 11.0
4 acute cystitis 10.6
5 end stage renal disease 10.6
6 urinary tract infection 10.5
7 rickets 10.5
8 pathologic nystagmus 10.5
9 nephrocalcinosis 10.4
10 anisocoria 10.3
11 coloboma of macula 10.3
12 strabismus 10.3
13 cryptorchidism, unilateral or bilateral 10.3
14 astigmatism 10.3
15 leukemia, acute lymphoblastic 10.3
16 urolithiasis 10.3
17 neuroretinitis 10.3
18 hypospadias 10.3
19 hypoparathyroidism 10.3
20 primary hyperparathyroidism 10.3
21 chondrocalcinosis 10.3
22 hyperinsulinism 10.3
23 amelogenesis imperfecta 10.3
24 gingivitis 10.3
25 retinitis 10.3
26 arthropathy 10.3
27 cataract 10.3
28 chorioretinitis 10.3
29 mechanical strabismus 10.3
30 hypoglycemia 10.3
31 hypercalciuria, absorptive, 2 10.1
32 autosomal recessive disease 10.1
33 kidney disease 10.1
34 hypomagnesemia 2, renal 10.0 FXYD2 CLDN16
35 hypomagnesemia 1, intestinal 10.0 TRPM6 CLDN16
36 nephrolithiasis 10.0
37 bartter syndrome, type 3 9.9 TRPM6 FXYD2 CLDN16
38 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.9 TRPM6 KCNJ16
39 branchiootic syndrome 1 9.9
40 myopia 9.9
41 renal osteodystrophy 9.9
42 hyperparathyroidism 9.9
43 renal tubular acidosis 9.9
44 hyperuricemia 9.9
45 chronic kidney disease 9.9
46 distal renal tubular acidosis 9.9
47 slipped capital femoral epiphysis 9.9
48 hypocalcemia, autosomal dominant 1 9.9 TRPM6 CLDN16
49 hypomagnesemia 4, renal 9.8 TRPM6 OXSR1
50 gitelman syndrome 9.7 TRPM6 KCNJ16 FXYD2 CLDN16

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



Diseases related to Hypomagnesemia 3, Renal

Symptoms & Phenotypes for Hypomagnesemia 3, Renal

Human phenotypes related to Hypomagnesemia 3, Renal:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures

Head And Neck Eyes:
nystagmus
strabismus
myopia
astigmatism
hyperopia

Laboratory Abnormalities:
hyperuricemia
hematuria
hypercalciuria
hypomagnesemia
hypermagnesiuria
more
Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
renal calcium wasting
renal magnesium wasting
polyuria
more
Genitourinary Bladder:
recurrent urinary tract infections

Growth Other:
failure to thrive

Metabolic Features:
polydipsia
incomplete distal renal tubular acidosis

Abdomen Gastrointestinal:
abdominal pain
feeding problems

Muscle Soft Tissue:
tetany

Clinical features from OMIM®:

248250 (Updated 05-Apr-2021)

UMLS symptoms related to Hypomagnesemia 3, Renal:


seizures; polydipsia; abdominal pain; polyuria

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 Anti-Arrhythmia Agents
3 Anesthetics
4 Analgesics
5 Anticonvulsants
6 Tocolytic Agents
7 calcium channel blockers
8 Hormones
9 Calcium, Dietary
10
Calcium Nutraceutical 7440-70-2 271

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:

40
Kidney, Brain

Publications for Hypomagnesemia 3, Renal

Articles related to Hypomagnesemia 3, Renal:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation. 57 6
26426912 2016
2
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. 57 6
16705067 2006
3
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. 57 6
16501001 2006
4
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. 6 57
14628289 2003
5
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. 6 57
10878661 2000
6
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. 6 57
10390358 1999
7
Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. 6 57
668721 1978
8
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations. 6
25477417 2015
9
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. 57
22422540 2012
10
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: the first four patients in Serbia. 6
20607983 2010
11
Paracellin-1 and the modulation of ion selectivity of tight junctions. 6
16234325 2005
12
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. 6
15856319 2005
13
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. 6
11518780 2001
14
Clinical presentation and outcome in primary familial hypomagnesaemia. 57
9579153 1998
15
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. 57
7637271 1995
16
Isolated autosomal recessive renal magnesium loss in two sisters. 57
3436090 1987
17
Hypomagnesaemia of hereditary renal origin. 57
3153319 1987
18
Primary hypomagnesaemia. A case report and literature review. 57
3595652 1987
19
Renal magnesium and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: effect of oral phosphorus and magnesium supplements. 57
4000339 1985
20
Primary hypomagnesaemia, an autosomal recessive inherited disease? 57
6132241 1983
21
Incomplete distal renal tubular acidosis in hypomagnesemia-dependent hypocalcemia. 57
1267554 1976
22
Asymptomatic chronic hypomagnesemia and hypokalemia in a child: Cell membrane disease. 57
1245942 1976
23
Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone). 57
5071957 1972
24
[Demonstration of the familial nature of chronic congenital hypomagnesemia]. 57
5425829 1970
25
Primary hypomagnesaemia with secondary hypocalcaemia in an infant. 57
4163945 1967
26
Hypomagnesemia of unknown etiology. 57
5923603 1966
27
In-Depth Bioinformatic Study of the CLDN16 Gene and Protein: Prediction of Subcellular Localization to Mitochondria. 61
31357502 2019
28
Reversible Dilated Cardiomyopathy Due to Combination of Vitamin D-Deficient Rickets and Primary Hypomagnesemia in an 11-Month-Old Infant. 61
31073467 2018
29
Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6. 61
26273099 2015
30
Primary familial hypomagnesemia syndrome: a new approach in treatment. 61
22876566 2012
31
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. 61
19307729 2009
32
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. 61
17671655 2007
33
Etiology of nephrocalcinosis in northern Indian children. 61
17285294 2007
34
[Primary hypomagnesemia]. 61
16817383 2006
35
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. 61
16107578 2005
36
The gamma subunit of Na/K-ATPase: an exceptional, small transmembrane protein. 61
15970522 2005
37
Insights into the molecular nature of magnesium homeostasis. 61
15001450 2004
38
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit. 61
12763862 2003
39
Primary hypomagnesemia in Thai infants: a case report with 7 years follow-up and review of literature. 61
12546321 2002
40
Primary hypomagnesemia with secondary hypocalcemia in an infant. 61
11910142 2002
41
[Magnesium metabolism in chronic primary hypomagnesemia] 61
14647662 2000
42
Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. 61
10337938 1999
43
Symptomatic hypomagnesemia in children. 61
9926514 1998
44
[Primary hypomagnesemia]. 61
9645155 1998
45
Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. 61
9297931 1997
46
Primary idiopathic hypomagnesemia in two female siblings. 61
8652964 1995
47
Magnesium metabolism in childhood. 61
8264518 1993
48
Primary hypomagnesemia with a probable double magnesium transport defect. 61
2352584 1990
49
Primary hypomagnesemia with a probable double magnesium transport defect. 61
2710272 1989
50
Effect of serum magnesium concentration on renal handling of phosphate in a patient with primary hypomagnesemia. 61
3396512 1988

Variations for Hypomagnesemia 3, Renal

ClinVar genetic disease variations for Hypomagnesemia 3, Renal:

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLDN16 NM_006580.3(CLDN16):c.908C>G (p.Thr303Arg) SNV Pathogenic 5939 rs121908542 GRCh37: 3:190127815-190127815
GRCh38: 3:190410026-190410026
2 CLDN16 NM_006580.3(CLDN16):c.715G>A (p.Gly239Arg) SNV Pathogenic 5926 rs104893721 GRCh37: 3:190126225-190126225
GRCh38: 3:190408436-190408436
3 CLDN16 NM_006580.3(CLDN16):c.571G>A (p.Gly191Arg) SNV Pathogenic 5927 rs104893722 GRCh37: 3:190122694-190122694
GRCh38: 3:190404905-190404905
4 CLDN16 NM_006580.3(CLDN16):c.593G>A (p.Gly198Asp) SNV Pathogenic 5928 rs104893723 GRCh37: 3:190126103-190126103
GRCh38: 3:190408314-190408314
5 CLDN16 NM_006580.3(CLDN16):c.212T>G (p.Met71Arg) SNV Pathogenic 5929 rs104893724 GRCh37: 3:190106120-190106120
GRCh38: 3:190388331-190388331
6 CLDN16 NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro) SNV Pathogenic 5930 rs104893725 GRCh37: 3:190122623-190122623
GRCh38: 3:190404834-190404834
7 CLDN16 NM_006580.3(CLDN16):c.698G>A (p.Gly233Asp) SNV Pathogenic 5932 rs104893727 GRCh37: 3:190126208-190126208
GRCh38: 3:190408419-190408419
8 CLDN16 NM_006580.3(CLDN16):c.704C>T (p.Ser235Phe) SNV Pathogenic 5933 rs104893728 GRCh37: 3:190126214-190126214
GRCh38: 3:190408425-190408425
9 CLDN16 NM_006580.3(CLDN16):c.452T>G (p.Leu151Trp) SNV Pathogenic 5935 rs104893730 GRCh37: 3:190122575-190122575
GRCh38: 3:190404786-190404786
10 CLDN16 NM_006580.3(CLDN16):c.434T>C (p.Leu145Pro) SNV Pathogenic 5936 rs104893731 GRCh37: 3:190122557-190122557
GRCh38: 3:190404768-190404768
11 CLDN16 NM_006580.3(CLDN16):c.350G>A (p.Trp117Ter) SNV Pathogenic 5937 rs104893732 GRCh37: 3:190120151-190120151
GRCh38: 3:190402362-190402362
12 CLDN16 CLDN16, LEU151PRO Variation Pathogenic 5938 GRCh37:
GRCh38:
13 CLDN16 NM_006580.3(CLDN16):c.831T>G (p.Tyr277Ter) SNV Pathogenic 5940 rs121908543 GRCh37: 3:190127738-190127738
GRCh38: 3:190409949-190409949
14 CLDN16 NM_006580.3(CLDN16):c.823A>T (p.Lys275Ter) SNV Pathogenic 30405 rs387906880 GRCh37: 3:190127730-190127730
GRCh38: 3:190409941-190409941
15 CLDN16 NM_006580.3(CLDN16):c.678del (p.Gly227fs) Deletion Pathogenic 438693 rs1553809654 GRCh37: 3:190126187-190126187
GRCh38: 3:190408398-190408398
16 CLDN16 NM_006580.3(CLDN16):c.416C>T (p.Ala139Val) SNV Pathogenic 545702 rs765256758 GRCh37: 3:190120217-190120217
GRCh38: 3:190402428-190402428
17 CLDN16 NM_006580.3(CLDN16):c.545_548dup (p.Lys183delinsAsnTer) Duplication Pathogenic 545703 rs1253995767 GRCh37: 3:190122666-190122667
GRCh38: 3:190404877-190404878
18 CLDN16 NM_006580.3(CLDN16):c.602G>A (p.Gly201Glu) SNV Pathogenic 560390 rs138308105 GRCh37: 3:190126112-190126112
GRCh38: 3:190408323-190408323
19 CLDN16 NM_006580.4:c.(?_598)_(900_?)del Deletion Pathogenic 932893 GRCh37:
GRCh38:
20 CLDN16 NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) SNV Pathogenic 5931 rs104893726 GRCh37: 3:190126205-190126205
GRCh38: 3:190408416-190408416
21 CLDN16 NM_006580.3(CLDN16):c.453G>T (p.Leu151Phe) SNV Pathogenic 5934 rs104893729 GRCh37: 3:190122576-190122576
GRCh38: 3:190404787-190404787
22 CLDN16 NM_006580.3(CLDN16):c.445C>T (p.Arg149Ter) SNV Pathogenic 5925 rs104893720 GRCh37: 3:190122568-190122568
GRCh38: 3:190404779-190404779
23 CLDN16 NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) SNV Pathogenic 1028522 GRCh37: 3:190106120-190106120
GRCh38: 3:190388331-190388331
24 CLDN16 NM_006580.4(CLDN16):c.130C>T (p.Arg44Ter) SNV Pathogenic 1028523 GRCh37: 3:190120141-190120141
GRCh38: 3:190402352-190402352
25 CLDN16 NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) SNV Likely pathogenic 974421 GRCh37: 3:190126178-190126178
GRCh38: 3:190408389-190408389
26 CLDN16 NM_006580.3(CLDN16):c.427+5G>A SNV Likely pathogenic 692157 rs751959432 GRCh37: 3:190120233-190120233
GRCh38: 3:190402444-190402444
27 CLDN16 NM_006580.3(CLDN16):c.592G>C (p.Gly198Arg) SNV Likely pathogenic 802037 rs1577430815 GRCh37: 3:190122715-190122715
GRCh38: 3:190404926-190404926
28 CLDN16 NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) Insertion Uncertain significance 983144 GRCh37: 3:190122613-190122614
GRCh38: 3:190404824-190404825
29 CLDN16 NM_006580.3(CLDN16):c.327G>A (p.Val109=) SNV Uncertain significance 344449 rs528344809 GRCh37: 3:190120128-190120128
GRCh38: 3:190402339-190402339
30 CLDN16 NM_006580.3(CLDN16):c.*965G>A SNV Uncertain significance 344462 rs769075597 GRCh37: 3:190128790-190128790
GRCh38: 3:190411001-190411001
31 CLDN16 NM_006580.3(CLDN16):c.*1170G>A SNV Uncertain significance 344464 rs886058250 GRCh37: 3:190128995-190128995
GRCh38: 3:190411206-190411206
32 CLDN16 NM_006580.4(CLDN16):c.*1022G>A SNV Uncertain significance 976577 GRCh37: 3:190128847-190128847
GRCh38: 3:190411058-190411058
33 CLDN16 NM_006580.4(CLDN16):c.*1145A>G SNV Uncertain significance 976578 GRCh37: 3:190128970-190128970
GRCh38: 3:190411181-190411181
34 CLDN16 NM_006580.4(CLDN16):c.*1156G>A SNV Uncertain significance 976579 GRCh37: 3:190128981-190128981
GRCh38: 3:190411192-190411192
35 CLDN16 NM_006580.4(CLDN16):c.*868A>C SNV Uncertain significance 976616 GRCh37: 3:190128693-190128693
GRCh38: 3:190410904-190410904
36 CLDN16 NM_001378492.1(CLDN16):c.-93-323G>T SNV Uncertain significance 900562 GRCh37: 3:190105703-190105703
GRCh38: 3:190387914-190387914
37 CLDN16 NM_001378492.1(CLDN16):c.-93-272C>T SNV Uncertain significance 902248 GRCh37: 3:190105754-190105754
GRCh38: 3:190387965-190387965
38 CLDN16 NM_006580.4(CLDN16):c.218-10G>A SNV Uncertain significance 1028524 GRCh37: 3:190122541-190122541
GRCh38: 3:190404752-190404752
39 CLDN16 NM_006580.3(CLDN16):c.*1733A>G SNV Uncertain significance 344473 rs886058254 GRCh37: 3:190129558-190129558
GRCh38: 3:190411769-190411769
40 CLDN16 NM_006580.3(CLDN16):c.*724A>C SNV Uncertain significance 344456 rs886058247 GRCh37: 3:190128549-190128549
GRCh38: 3:190410760-190410760
41 CLDN16 NM_006580.3(CLDN16):c.-6C>T SNV Uncertain significance 344441 rs557493885 GRCh37: 3:190105903-190105903
GRCh38: 3:190388114-190388114
42 CLDN16 NM_006580.3(CLDN16):c.880G>A (p.Glu294Lys) SNV Uncertain significance 344451 rs756192568 GRCh37: 3:190127787-190127787
GRCh38: 3:190409998-190409998
43 CLDN16 NM_006580.3(CLDN16):c.*1348A>G SNV Uncertain significance 344468 rs753612393 GRCh37: 3:190129173-190129173
GRCh38: 3:190411384-190411384
44 CLDN16 NM_006580.3(CLDN16):c.*1491A>G SNV Uncertain significance 344471 rs113286536 GRCh37: 3:190129316-190129316
GRCh38: 3:190411527-190411527
45 CLDN16 NM_006580.3(CLDN16):c.227A>C (p.Gln76Pro) SNV Uncertain significance 344446 rs867514971 GRCh37: 3:190106135-190106135
GRCh38: 3:190388346-190388346
46 CLDN16 NM_006580.3(CLDN16):c.324+13C>G SNV Uncertain significance 344448 rs369250510 GRCh37: 3:190106245-190106245
GRCh38: 3:190388456-190388456
47 CLDN16 NM_006580.3(CLDN16):c.-136T>C SNV Uncertain significance 344439 rs534883127 GRCh37: 3:190105773-190105773
GRCh38: 3:190387984-190387984
48 CLDN16 NM_006580.3(CLDN16):c.*761A>G SNV Uncertain significance 344457 rs886058248 GRCh37: 3:190128586-190128586
GRCh38: 3:190410797-190410797
49 CLDN16 NM_006580.3(CLDN16):c.38del (p.Leu13fs) Deletion Uncertain significance 344444 rs886058244 GRCh37: 3:190105944-190105944
GRCh38: 3:190388155-190388155
50 CLDN16 NM_006580.3(CLDN16):c.-3A>T SNV Uncertain significance 344443 rs200322099 GRCh37: 3:190105906-190105906
GRCh38: 3:190388117-190388117

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

72 (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 rs968906940
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 rs127070425
17 CLDN16 p.Arg216Thr VAR_017236
18 CLDN16 p.Ser235Pro VAR_017237

Expression for Hypomagnesemia 3, Renal

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

Pathways for Hypomagnesemia 3, Renal

Pathways related to Hypomagnesemia 3, Renal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.73 TRPM6 FXYD2
2 10.09 OXSR1 FXYD2

GO Terms for Hypomagnesemia 3, Renal

Cellular components related to Hypomagnesemia 3, Renal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 8.62 EPGN AP1M1

Biological processes related to Hypomagnesemia 3, Renal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.33 TRPM6 KCNJ16 FXYD2
2 potassium ion import across plasma membrane GO:1990573 8.96 KCNJ16 FXYD2
3 ion transport GO:0006811 8.92 TRPM6 KCNJ16 FXYD2 CLDN16

Sources for Hypomagnesemia 3, Renal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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