HOMG
MCID: PRM237
MIFTS: 44

Primary Hypomagnesemia (HOMG)

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

Aliases & Classifications for Primary Hypomagnesemia

MalaCards integrated aliases for Primary Hypomagnesemia:

Name: Primary Hypomagnesemia 12 29 6 15 70
Familial Primary Hypomagnesemia 20 70
Genetic Primary Hypomagnesemia 20 58
Primary Familial Hypomagnesemia 12
Hypomagnesemia 1, Intestinal 70
Homg 12

Characteristics:

Orphanet epidemiological data:

58
genetic primary hypomagnesemia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adolescent,Adult,Childhood; Age of death: any age;

Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060879
ICD10 32 E83.4
ICD10 via Orphanet 33 E83.4
Orphanet 58 ORPHA34526
UMLS 70 C0268448 C1865974 C4049202

Summaries for Primary Hypomagnesemia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 34526 Definition A rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption, resulting in a low Mg concentration in the blood. Epidemiology To date, more than 500 cases of Familial primary hypomagnesemia (FPH) have been described in the literature. Clinical description Clinical manifestations include weakness, fatigue, increased neuromuscular excitability (muscle fasciculation, cramps, tremor carpopedal spasms, numbness in the hands and tetany), central nervous system manifestations (lethargy, drowsiness, depression, agitation and generalized seizures ), and cardiac manifestations (atrial or ventricular tachycardia, and premature contractions). Chronic hypomagnesemia may be associated with chondrocalcinosis. Hypomagnesemia is frequently accompanied by hypocalcemia and sometimes by hypokalemia. Depending on the renal segment involved, FPH can be associated with hypercalcuria (when the defect of magnesium reabsorption is in the thick ascending limb of Henle's loop) or with hypocalcuria or normocalcuria (when the defect of magnesium reabsorption is in distal convoluted tubule). The severity of the clinical manifestations and the age of onset is variable (depends on the implicated transporter and type of inheritance. Severe and early presentation is observed in primary hypomagnesemia with secondary hypocalcemia (PHSH, recessive inheritance; see this term), while the mild phenotype is observed in older children and adults in dominant diseases. Other hereditary renal diseases are frequently associated with hypomagnesemia such as salt losing tubulopathies: classic Bartter syndrome, Gitelman syndrome, EAST syndrome, renal cysts and diabetes syndrome and autosomal dominant hypocalcemia (see these terms). Etiology Renal reabsorption of Mg occurs in the loop of Henle via a passive paracellular transport process implicating claudin-16 and claudin-19 while in the intestine and in the distal convoluted tubule (DCT), reabsorption is achieved by an active process mediated by TRPM6. FPH is caused by mutations in genes encoding key proteins with direct or indirect involvement in active Mg handling, such as CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, HNF1B and TRPM6. Diagnostic methods Clinically, Chvostek's (twitching of facial muscles in response to tapping over the area of the facial nerve) and Trousseau's (carpopedal spasm resulting from ischemia) signs can detect hypomagnesemia in a specific and sensitive manner. Diagnosis is also established by simultaneous evaluation of serum Mg and urinary Mg excretion. Presence of hypomagnesemia with adapted urinary Mg excretion (<1mmol/24h or fractional excretion (FE) < 1%) indicates an extra renal origin. Elevated fecal Mg levels indicate an intestinal defect. In contrast, hypomagnesemia with increased urinary Mg excretion (> 2 mmol/24h or FE >2%) indicates a renal origin. In mixed intestinal and renal hypomagnesemia (PHSH), the renal reabsorption defect is only observed after an intravenous magnesium load test. Diagnosis is confirmed by molecular screening of genes involved in FPH. Differential diagnosis Differential diagnosis includes isolated Mg malabsorption, hypoparathyroidism and drug toxicity (diuretics, aminoglycosides, proton pump inhibitors, pentamidin, EGF receptor antagonists, calcineurin inhibitors and platin salts). Genetic counseling Transmission is autosomal recessive or autosomal dominant. Management and treatment Treatment of FPH involves substitution with oral Mg. In cases of intolerance, patients may be treated with intramuscular Mg sulfate. Treatment and doses should be adjusted according to gastrointestinal tolerance and clinical manifestations. Intravenous Mg and calcium therapies may be given during symptomatic attacks. Prognosis Prognosis is highly dependent on the rapidity of diagnosis and treatment. Complications or death resulting from untreated convulsions or tetany may be observed in certain forms of FPH.

MalaCards based summary : Primary Hypomagnesemia, also known as familial primary hypomagnesemia, is related to hypomagnesemia 2, renal and hypomagnesemia 3, renal, and has symptoms including seizures, polydipsia and abdominal pain. An important gene associated with Primary Hypomagnesemia is CLDN16 (Claudin 16), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. The drugs Magnesium Sulfate and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include brain and kidney, and related phenotype is homeostasis/metabolism.

Disease Ontology : 12 A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.

Related Diseases for Primary Hypomagnesemia

Diseases related to Primary Hypomagnesemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 2, renal 32.7 FXYD2 CLDN16
2 hypomagnesemia 3, renal 32.0 TRPM6 FXYD2 CLDN16 AP1M1
3 hypomagnesemia 1, intestinal 32.0 TRPM7 TRPM6 PTH CLDN19 CLDN16
4 hypomagnesemia 5, renal, with or without ocular involvement 31.5 SLC12A1 KCNJ1 CLDN19 CLDN16
5 hypocalcemia, autosomal dominant 1 29.9 TRPM6 PTH CLDN16
6 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.6
7 genetic primary hypomagnesemia with normocalciuria 11.1
8 genetic primary hypomagnesemia with hypocalciuria 11.1
9 primary hypomagnesemia with refractory seizures and intellectual disability 11.1
10 familial primary hypomagnesemia with normocalciuria and normocalcemia 11.1
11 hypercalciuria, absorptive, 2 10.1 KCNJ1 CLDN16
12 deafness, autosomal recessive 29 10.1 CLDN19 CLDN16
13 familial hypocalciuric hypercalcemia 10.1 PTH CLDN19 CLDN16
14 hypoparathyroidism 10.1
15 bartter syndrome, type 2, antenatal 10.0 SLC12A1 KCNJ1
16 nephrolithiasis, calcium oxalate 10.0 SLC12A1 CLDN19 CLDN16
17 mutilating palmoplantar keratoderma with periorificial keratotic plaques 10.0 TRPM7 TRPM6
18 antenatal bartter syndrome 10.0 SLC12A1 KCNJ1
19 dent disease 1 10.0 SLC12A1 KCNJ1 CLDN16
20 renal tubular transport disease 10.0 SLC12A1 PTH KCNJ1
21 atrial standstill 1 10.0
22 mineral metabolism disease 10.0 SLC12A1 PTH KCNJ1
23 diabetes insipidus, nephrogenic, autosomal 9.9 SLC12A1 PTH KCNJ1
24 bartter syndrome, type 1, antenatal 9.9 SLC12A1 KCNJ1 CLDN19 CLDN16
25 nephrocalcinosis 9.9 SLC12A1 KCNJ1 CLDN19 CLDN16
26 hyperphosphatemia 9.8
27 autosomal recessive disease 9.8
28 rickets 9.8
29 dilated cardiomyopathy 9.8
30 diarrhea 9.8
31 seizure disorder 9.8
32 arthrogryposis, distal, type 3 9.8 SLC12A1 KCNJ1
33 gitelman syndrome 9.8 TRPM6 SLC12A1 KCNJ1 FXYD2 CLDN16
34 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.7 TRPM6 SLC12A1 KCNJ1 KCNA1
35 nephrolithiasis 9.7 SLC12A1 PTH KCNJ1 CLDN19 CLDN16
36 bartter syndrome, type 3 9.7 TRPM6 SLC12A1 KCNJ1 FXYD2 CLDN19 CLDN16
37 bartter disease 9.4 TRPM6 SLC12A1 PTH KCNJ1 FXYD2 CNNM2

Graphical network of the top 20 diseases related to Primary Hypomagnesemia:



Diseases related to Primary Hypomagnesemia

Symptoms & Phenotypes for Primary Hypomagnesemia

UMLS symptoms related to Primary Hypomagnesemia:


seizures; polydipsia; abdominal pain; polyuria; spasm

MGI Mouse Phenotypes related to Primary Hypomagnesemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 CLDN16 CLDN19 FXYD7 KCNA1 KCNJ1 PTH

Drugs & Therapeutics for Primary Hypomagnesemia

Drugs for Primary Hypomagnesemia (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 Anti-Arrhythmia Agents
4 Anesthetics
5 Hormones
6 Anticonvulsants
7 Tocolytic Agents
8 calcium channel blockers
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 Primary Hypomagnesemia

Genetic Tests for Primary Hypomagnesemia

Genetic tests related to Primary Hypomagnesemia:

# Genetic test Affiliating Genes
1 Primary Hypomagnesemia 29 CLDN16

Anatomical Context for Primary Hypomagnesemia

MalaCards organs/tissues related to Primary Hypomagnesemia:

40
Brain, Kidney

Publications for Primary Hypomagnesemia

Articles related to Primary Hypomagnesemia:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
2
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation. 6
26426912 2016
3
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations. 6
25477417 2015
4
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: the first four patients in Serbia. 6
20607983 2010
5
Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. 6
16705067 2006
6
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. 6
16501001 2006
7
Paracellin-1 and the modulation of ion selectivity of tight junctions. 6
16234325 2005
8
Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study. 6
15856319 2005
9
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. 6
11518780 2001
10
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. 6
10878661 2000
11
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. 6
10390358 1999
12
Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. 6
668721 1978
13
In-Depth Bioinformatic Study of the CLDN16 Gene and Protein: Prediction of Subcellular Localization to Mitochondria. 61
31357502 2019
14
Reversible Dilated Cardiomyopathy Due to Combination of Vitamin D-Deficient Rickets and Primary Hypomagnesemia in an 11-Month-Old Infant. 61
31073467 2018
15
Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6. 61
26273099 2015
16
Primary familial hypomagnesemia syndrome: a new approach in treatment. 61
22876566 2012
17
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. 61
19307729 2009
18
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. 61
17671655 2007
19
Etiology of nephrocalcinosis in northern Indian children. 61
17285294 2007
20
[Primary hypomagnesemia]. 61
16817383 2006
21
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. 61
16107578 2005
22
The gamma subunit of Na/K-ATPase: an exceptional, small transmembrane protein. 61
15970522 2005
23
Insights into the molecular nature of magnesium homeostasis. 61
15001450 2004
24
Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit. 61
12763862 2003
25
Primary hypomagnesemia in Thai infants: a case report with 7 years follow-up and review of literature. 61
12546321 2002
26
Primary hypomagnesemia with secondary hypocalcemia in an infant. 61
11910142 2002
27
[Magnesium metabolism in chronic primary hypomagnesemia] 61
14647662 2000
28
Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. 61
10337938 1999
29
Symptomatic hypomagnesemia in children. 61
9926514 1998
30
[Primary hypomagnesemia]. 61
9645155 1998
31
Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. 61
9297931 1997
32
Primary idiopathic hypomagnesemia in two female siblings. 61
8652964 1995
33
Magnesium metabolism in childhood. 61
8264518 1993
34
Primary hypomagnesemia with a probable double magnesium transport defect. 61
2352584 1990
35
Primary hypomagnesemia with a probable double magnesium transport defect. 61
2710272 1989
36
Effect of serum magnesium concentration on renal handling of phosphate in a patient with primary hypomagnesemia. 61
3396512 1988
37
Primary hypomagnesemia with secondary hypocalcemia. Report of a case and review of the world literature. 61
2995735 1985
38
[Case of primary hypomagnesemia with functional hypoparathyroidism]. 61
4072167 1985
39
Parathyroid hormone secretion and responsiveness to parathyroid hormone in primary hypomagnesemia. 61
6853131 1983
40
[Primary hypomagnesemia with hypocalcemia. A cause of disease in a child]. 61
7163892 1982
41
[Primary hypomagnesemia. A rare cause of hypocalcemia and convulsions in infancy]. 61
7303277 1981
42
[A case of neonatal convulsions caused by transitory normocalcemic primary hypomagnesemia. Clinical considerations]. 61
7343929 1981
43
[Primary hypomagnesemia. Clinical, diagnostic and therapeutic studies in three children (author's transl)]. 61
759840 1979
44
[Editorial: Primary hypomagnesemia]. 61
1278784 1976
45
[Study of the pathogenic mechanism of hypocalcemia in primary hypomagnesemia. Demonstration of a blockage of the mechanism of release of parathyroid hormone]. 61
1217953 1975
46
Primary hypomagnesemia. I. Absorption Studies. 61
1130118 1975
47
[Syndrome of primary hypomagnesemia with secondary hypocalcemia. Report of a case]. 61
1223632 1975
48
Pathogenesis of hypocalcemia in primary hypomagnesemia: normal end-organ responsiveness to parathyroid hormone, impaired parathyroid gland function. 61
4345201 1973
49
Distribution of divalent cations at the cellular level during primary hypomagnesemia in infancy. 61
5053136 1972
50
Primary hypomagnesemia with secondary hypocalcemia, diarrhea and insensitivity to parathyroid hormone. 61
5032685 1972

Variations for Primary Hypomagnesemia

ClinVar genetic disease variations for Primary Hypomagnesemia:

6 (show top 50) (show all 104)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLDN16 NM_006580.3(CLDN16):c.715G>A (p.Gly239Arg) SNV Pathogenic 5926 rs104893721 GRCh37: 3:190126225-190126225
GRCh38: 3:190408436-190408436
2 CLDN16 NM_006580.3(CLDN16):c.571G>A (p.Gly191Arg) SNV Pathogenic 5927 rs104893722 GRCh37: 3:190122694-190122694
GRCh38: 3:190404905-190404905
3 CLDN16 NM_006580.3(CLDN16):c.593G>A (p.Gly198Asp) SNV Pathogenic 5928 rs104893723 GRCh37: 3:190126103-190126103
GRCh38: 3:190408314-190408314
4 CLDN16 NM_006580.3(CLDN16):c.212T>G (p.Met71Arg) SNV Pathogenic 5929 rs104893724 GRCh37: 3:190106120-190106120
GRCh38: 3:190388331-190388331
5 CLDN16 NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro) SNV Pathogenic 5930 rs104893725 GRCh37: 3:190122623-190122623
GRCh38: 3:190404834-190404834
6 CLDN16 NM_006580.3(CLDN16):c.698G>A (p.Gly233Asp) SNV Pathogenic 5932 rs104893727 GRCh37: 3:190126208-190126208
GRCh38: 3:190408419-190408419
7 CLDN16 NM_006580.3(CLDN16):c.704C>T (p.Ser235Phe) SNV Pathogenic 5933 rs104893728 GRCh37: 3:190126214-190126214
GRCh38: 3:190408425-190408425
8 CLDN16 NM_006580.3(CLDN16):c.452T>G (p.Leu151Trp) SNV Pathogenic 5935 rs104893730 GRCh37: 3:190122575-190122575
GRCh38: 3:190404786-190404786
9 CLDN16 NM_006580.3(CLDN16):c.434T>C (p.Leu145Pro) SNV Pathogenic 5936 rs104893731 GRCh37: 3:190122557-190122557
GRCh38: 3:190404768-190404768
10 CLDN16 NM_006580.3(CLDN16):c.350G>A (p.Trp117Ter) SNV Pathogenic 5937 rs104893732 GRCh37: 3:190120151-190120151
GRCh38: 3:190402362-190402362
11 CLDN16 CLDN16, LEU151PRO Variation Pathogenic 5938 GRCh37:
GRCh38:
12 CLDN16 NM_006580.3(CLDN16):c.831T>G (p.Tyr277Ter) SNV Pathogenic 5940 rs121908543 GRCh37: 3:190127738-190127738
GRCh38: 3:190409949-190409949
13 CLDN16 NM_006580.3(CLDN16):c.823A>T (p.Lys275Ter) SNV Pathogenic 30405 rs387906880 GRCh37: 3:190127730-190127730
GRCh38: 3:190409941-190409941
14 CLDN16 NM_006580.3(CLDN16):c.678del (p.Gly227fs) Deletion Pathogenic 438693 rs1553809654 GRCh37: 3:190126187-190126187
GRCh38: 3:190408398-190408398
15 CLDN16 NM_006580.3(CLDN16):c.416C>T (p.Ala139Val) SNV Pathogenic 545702 rs765256758 GRCh37: 3:190120217-190120217
GRCh38: 3:190402428-190402428
16 CLDN16 NM_006580.3(CLDN16):c.545_548dup (p.Lys183delinsAsnTer) Duplication Pathogenic 545703 rs1253995767 GRCh37: 3:190122666-190122667
GRCh38: 3:190404877-190404878
17 CLDN16 NM_006580.3(CLDN16):c.602G>A (p.Gly201Glu) SNV Pathogenic 560390 rs138308105 GRCh37: 3:190126112-190126112
GRCh38: 3:190408323-190408323
18 CLDN16 NM_006580.4:c.(?_598)_(900_?)del Deletion Pathogenic 932893 GRCh37:
GRCh38:
19 CLDN16 NM_006580.3(CLDN16):c.453G>T (p.Leu151Phe) SNV Pathogenic 5934 rs104893729 GRCh37: 3:190122576-190122576
GRCh38: 3:190404787-190404787
20 CLDN16 NM_006580.3(CLDN16):c.445C>T (p.Arg149Ter) SNV Pathogenic 5925 rs104893720 GRCh37: 3:190122568-190122568
GRCh38: 3:190404779-190404779
21 CLDN16 NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) SNV Pathogenic 1028522 GRCh37: 3:190106120-190106120
GRCh38: 3:190388331-190388331
22 CLDN16 NM_006580.4(CLDN16):c.130C>T (p.Arg44Ter) SNV Pathogenic 1028523 GRCh37: 3:190120141-190120141
GRCh38: 3:190402352-190402352
23 CLDN16 NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) SNV Pathogenic 5931 rs104893726 GRCh37: 3:190126205-190126205
GRCh38: 3:190408416-190408416
24 CLDN16 NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) SNV Likely pathogenic 974421 GRCh37: 3:190126178-190126178
GRCh38: 3:190408389-190408389
25 CLDN16 NM_006580.3(CLDN16):c.427+5G>A SNV Likely pathogenic 692157 rs751959432 GRCh37: 3:190120233-190120233
GRCh38: 3:190402444-190402444
26 CLDN16 NM_006580.3(CLDN16):c.592G>C (p.Gly198Arg) SNV Likely pathogenic 802037 rs1577430815 GRCh37: 3:190122715-190122715
GRCh38: 3:190404926-190404926
27 CLDN16 NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) Insertion Uncertain significance 983144 GRCh37: 3:190122613-190122614
GRCh38: 3:190404824-190404825
28 CLDN16 NM_006580.3(CLDN16):c.327G>A (p.Val109=) SNV Uncertain significance 344449 rs528344809 GRCh37: 3:190120128-190120128
GRCh38: 3:190402339-190402339
29 CLDN16 NM_006580.3(CLDN16):c.*965G>A SNV Uncertain significance 344462 rs769075597 GRCh37: 3:190128790-190128790
GRCh38: 3:190411001-190411001
30 CLDN16 NM_006580.3(CLDN16):c.*1170G>A SNV Uncertain significance 344464 rs886058250 GRCh37: 3:190128995-190128995
GRCh38: 3:190411206-190411206
31 CLDN16 NM_006580.4(CLDN16):c.*1022G>A SNV Uncertain significance 976577 GRCh37: 3:190128847-190128847
GRCh38: 3:190411058-190411058
32 CLDN16 NM_006580.4(CLDN16):c.*1145A>G SNV Uncertain significance 976578 GRCh37: 3:190128970-190128970
GRCh38: 3:190411181-190411181
33 CLDN16 NM_006580.4(CLDN16):c.*1156G>A SNV Uncertain significance 976579 GRCh37: 3:190128981-190128981
GRCh38: 3:190411192-190411192
34 CLDN16 NM_006580.4(CLDN16):c.*868A>C SNV Uncertain significance 976616 GRCh37: 3:190128693-190128693
GRCh38: 3:190410904-190410904
35 CLDN16 NM_001378492.1(CLDN16):c.-93-323G>T SNV Uncertain significance 900562 GRCh37: 3:190105703-190105703
GRCh38: 3:190387914-190387914
36 CLDN16 NM_001378492.1(CLDN16):c.-93-272C>T SNV Uncertain significance 902248 GRCh37: 3:190105754-190105754
GRCh38: 3:190387965-190387965
37 CLDN16 NM_006580.4(CLDN16):c.218-10G>A SNV Uncertain significance 1028524 GRCh37: 3:190122541-190122541
GRCh38: 3:190404752-190404752
38 CLDN16 NM_006580.3(CLDN16):c.*1733A>G SNV Uncertain significance 344473 rs886058254 GRCh37: 3:190129558-190129558
GRCh38: 3:190411769-190411769
39 CLDN16 NM_006580.3(CLDN16):c.*724A>C SNV Uncertain significance 344456 rs886058247 GRCh37: 3:190128549-190128549
GRCh38: 3:190410760-190410760
40 CLDN16 NM_006580.3(CLDN16):c.-6C>T SNV Uncertain significance 344441 rs557493885 GRCh37: 3:190105903-190105903
GRCh38: 3:190388114-190388114
41 CLDN16 NM_006580.3(CLDN16):c.880G>A (p.Glu294Lys) SNV Uncertain significance 344451 rs756192568 GRCh37: 3:190127787-190127787
GRCh38: 3:190409998-190409998
42 CLDN16 NM_006580.3(CLDN16):c.*1348A>G SNV Uncertain significance 344468 rs753612393 GRCh37: 3:190129173-190129173
GRCh38: 3:190411384-190411384
43 CLDN16 NM_006580.3(CLDN16):c.*1491A>G SNV Uncertain significance 344471 rs113286536 GRCh37: 3:190129316-190129316
GRCh38: 3:190411527-190411527
44 CLDN16 NM_006580.3(CLDN16):c.227A>C (p.Gln76Pro) SNV Uncertain significance 344446 rs867514971 GRCh37: 3:190106135-190106135
GRCh38: 3:190388346-190388346
45 CLDN16 NM_006580.3(CLDN16):c.324+13C>G SNV Uncertain significance 344448 rs369250510 GRCh37: 3:190106245-190106245
GRCh38: 3:190388456-190388456
46 CLDN16 NM_006580.3(CLDN16):c.-136T>C SNV Uncertain significance 344439 rs534883127 GRCh37: 3:190105773-190105773
GRCh38: 3:190387984-190387984
47 CLDN16 NM_006580.3(CLDN16):c.*761A>G SNV Uncertain significance 344457 rs886058248 GRCh37: 3:190128586-190128586
GRCh38: 3:190410797-190410797
48 CLDN16 NM_006580.3(CLDN16):c.38del (p.Leu13fs) Deletion Uncertain significance 344444 rs886058244 GRCh37: 3:190105944-190105944
GRCh38: 3:190388155-190388155
49 CLDN16 NM_006580.3(CLDN16):c.-3A>T SNV Uncertain significance 344443 rs200322099 GRCh37: 3:190105906-190105906
GRCh38: 3:190388117-190388117
50 CLDN16 NM_006580.3(CLDN16):c.*768del Deletion Uncertain significance 344458 rs886058249 GRCh37: 3:190128593-190128593
GRCh38: 3:190410804-190410804

Expression for Primary Hypomagnesemia

Search GEO for disease gene expression data for Primary Hypomagnesemia.

Pathways for Primary Hypomagnesemia

Pathways related to Primary Hypomagnesemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 TRPM7 TRPM6 SLC8A1 SLC12A1 FXYD7 FXYD2
2
Show member pathways
12.05 TRPM7 TRPM6 FXYD7 FXYD2
3 11.06 SLC8A1 PTH FXYD2
4 10.97 KCNJ1 FXYD2
5 10.77 TRPM7 TRPM6
6 10.7 TRPM7 TRPM6 SLC8A1 FXYD2
7 10.59 SLC12A1 KCNJ1 FXYD2

GO Terms for Primary Hypomagnesemia

Cellular components related to Primary Hypomagnesemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 UBL4A TRPM7 TRPM6 SLC8A1 SLC12A1 KCNJ1
2 integral component of membrane GO:0016021 9.7 TRPM7 TRPM6 SLC8A1 SLC12A1 KCNJ1 KCNA1
3 plasma membrane GO:0005886 9.47 TRPM7 TRPM6 SLC8A1 SLC12A1 KCNJ1 KCNA1

Biological processes related to Primary Hypomagnesemia according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.74 TRPM7 TRPM6 SLC8A1
2 calcium ion transmembrane transport GO:0070588 9.71 TRPM7 TRPM6 SLC8A1
3 sodium ion transport GO:0006814 9.7 SLC8A1 SLC12A1 FXYD2
4 transmembrane transport GO:0055085 9.7 TRPM7 TRPM6 SLC8A1 SLC12A1 KCNA1 FXYD2
5 ion transmembrane transport GO:0034220 9.65 TRPM6 SLC12A1 KCNJ1 FXYD7 FXYD2
6 potassium ion transport GO:0006813 9.62 SLC12A1 KCNJ1 KCNA1 FXYD2
7 positive regulation of bone mineralization GO:0030501 9.6 SLC8A1 PTH
8 metal ion transport GO:0030001 9.59 TRPM6 SLC8A1
9 excretion GO:0007588 9.58 KCNJ1 CLDN16
10 calcium ion homeostasis GO:0055074 9.58 SLC8A1 PTH
11 regulation of cardiac conduction GO:1903779 9.58 SLC8A1 FXYD7 FXYD2
12 protein tetramerization GO:0051262 9.56 TRPM7 TRPM6
13 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.55 CLDN19 CLDN16
14 potassium ion import across plasma membrane GO:1990573 9.54 SLC12A1 KCNJ1 FXYD2
15 regulation of sodium ion transmembrane transporter activity GO:2000649 9.51 FXYD7 FXYD2
16 magnesium ion transmembrane transport GO:1903830 9.49 CNNM2 CLDN16
17 sodium ion export across plasma membrane GO:0036376 9.48 SLC8A1 FXYD2
18 divalent metal ion transport GO:0070838 9.46 TRPM7 TRPM6
19 regulation of ion transport GO:0043269 9.43 FXYD7 FXYD2
20 ion transport GO:0006811 9.32 TRPM7 TRPM6 SLC8A1 SLC12A1 KCNJ1 KCNA1
21 magnesium ion homeostasis GO:0010960 9.13 PTH KCNA1 CNNM2

Molecular functions related to Primary Hypomagnesemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.33 TRPM7 TRPM6 KCNA1
2 sodium channel regulator activity GO:0017080 9.26 FXYD7 FXYD2
3 magnesium ion transmembrane transporter activity GO:0015095 8.96 CNNM2 CLDN16
4 ion channel regulator activity GO:0099106 8.62 FXYD7 FXYD2

Sources for Primary Hypomagnesemia

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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