HOMG2
MCID: HYP210
MIFTS: 35

Hypomagnesemia 2, Renal (HOMG2)

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

Aliases & Classifications for Hypomagnesemia 2, Renal

MalaCards integrated aliases for Hypomagnesemia 2, Renal:

Name: Hypomagnesemia 2, Renal 57 73
Homg2 57 12 53 59 75
Autosomal Dominant Primary Hypomagnesemia with Hypocalciuria 12 53 59
Magnesium Wasting, Renal 57 53 55
Renal Magnesium Wasting 75 29 6
Renal Hypomagnesemia 2 12 53 75
Isolated Autosomal Dominant Hypomagnesemia 53 59
Isolated Renal Magnesium Wasting 53 59
Magnesium Loss, Isolated Renal 57 53
Renal Hypomagnesemia Type 2 53 59
Hypomagnesemia with Hypocalciuria 75
Renal Hypomagnesemia, Dominant 6
Dominant Renal Hypomagnesemia 75
Isolated Renal Magnesium Loss 75
Hypomagnesemia, Type 2, Renal 40
Hypomagnesemia-2, Renal 13
Hypomagnesemia 2 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant primary hypomagnesemia with hypocalciuria
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypomagnesemia 2, renal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 154020
Disease Ontology 12 DOID:0060885
ICD10 33 E83.4
Orphanet 59 ORPHA34528
UMLS via Orphanet 74 C1835171
ICD10 via Orphanet 34 E83.4
MedGen 42 C1835171
MeSH 44 D015499
UMLS 73 C1835171

Summaries for Hypomagnesemia 2, Renal

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 34528Disease definitionAutosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.EpidemiologyTo date, only one large pedigree with 18 affected individuals has been reported in the literature.Clinical descriptionADPHH can be detected in childhood or in adult life. Most affected individuals are asymptomatic but patients may suffer from generalized convulsions. In adulthood, chondrocalcinosis may be observed.EtiologyADPHH is caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localized on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. A similar phenotype is observed in about 45-65% of patients with mutations in the HNF1Bgene (hepatocyte nuclear factor 1B; 17q12), which encodes a transcription factor expressed in renal epithelia. Indeed, this transcription factor stimulates transcriptional expression of the FXYD2 gene. Hypokalemia is observed in 46% of patients with HNF1B gene mutations.Diagnostic methodsDiagnosis relies on a hypomagnesemia, hypermagnesuria and hypocalciuria phenotype. In patients with FXYD2 mutations, no hypokalemia or metabolic alkalosis is observed. In contrast, in patients with HNF1B mutations, hypokalemia can be detected. Diagnosis is confirmed by the genetic screening of the genes FXYD2 and HNF1B.Differential diagnosisDifferential diagnosis includes all causes of renal hypomagnesemia, particularly diseases associated with hypocalciuria such as Gitelman syndrome, EAST syndrome and familial primary hypomagnesemia with normocalciuria and normocalcemia (see these terms).Antenatal diagnosisPrenatal diagnosis relies on detection of bilateral hyperechogenic kidneys of normal or moderately enlarged size by ultrasound in patients with HNF1B mutations.Genetic counselingTransmission is autosomal dominant. Genetic counseling may be proposed and the recurrence risk is 50%.Management and treatmentManagement is mainly symptomatic and includes oral magnesium supplements.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypomagnesemia 2, Renal, also known as homg2, is related to isolated autosomal dominant hypomagnesemia, glaudemans type and hypomagnesemia 5, renal, with or without ocular involvement, and has symptoms including seizures and weakness. An important gene associated with Hypomagnesemia 2, Renal is FXYD2 (FXYD Domain Containing Ion Transport Regulator 2). The drugs Magnesium oxide and Zinc have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are seizures and renal insufficiency

Disease Ontology : 12 A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material basis in heterozygous mutation in the FXYD2 gene on chromosome 11q23.

UniProtKB/Swiss-Prot : 75 Hypomagnesemia 2: A disorder due to primary renal wasting of magnesium. Plasma levels of other electrolytes are normal. The only abnormality found, in addition to low magnesium levels, is lowered renal excretion of calcium resulting in hypocalciuria.

Description from OMIM: 154020

Related Diseases for Hypomagnesemia 2, Renal

Graphical network of the top 20 diseases related to Hypomagnesemia 2, Renal:



Diseases related to Hypomagnesemia 2, Renal

Symptoms & Phenotypes for Hypomagnesemia 2, Renal

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dysesthesias of face and hands

Muscle Soft Tissue:
chondrocalcinosis
muscle cramping, especially of legs
generalized weakness

Laboratory Abnormalities:
hypokalemia
hypocalciuria
hypomagnesemia
normal parathyroid hormone
hypermagnesuria

Genitourinary Kidneys:
renal magnesium wasting
decreased renal calcium excretion
renal failure (rare)


Clinical features from OMIM:

154020

Human phenotypes related to Hypomagnesemia 2, Renal:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 renal insufficiency 32 occasional (7.5%) HP:0000083
3 hypokalemia 32 HP:0002900
4 generalized muscle weakness 32 HP:0003324
5 chondrocalcinosis 32 HP:0000934
6 hypocalciuria 32 HP:0003127
7 hypomagnesemia 32 HP:0002917
8 renal magnesium wasting 32 HP:0005567

UMLS symptoms related to Hypomagnesemia 2, Renal:


seizures, weakness

GenomeRNAi Phenotypes related to Hypomagnesemia 2, Renal according to GeneCards Suite gene sharing:

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.83 FXYD2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.83 FXYD2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.83 FXYD2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.83 HNF1B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.83 HNF1B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.83 HNF1B
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.83 FXYD2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.83 HNF1B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.83 FXYD2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.83 HNF1B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.83 HNF1B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.83 FXYD2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.83 FXYD2 HNF1B
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.83 FXYD2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.66 FXYD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 FXYD2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.66 FXYD2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.66 HNF1B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.66 FXYD2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.66 FXYD2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.66 HNF1B
22 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.66 FXYD2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.66 HNF1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.66 FXYD2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.66 FXYD2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.66 FXYD2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.66 FXYD2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 HNF1B
29 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.66 HNF1B
30 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.66 HNF1B
31 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.66 FXYD2 HNF1B
32 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.66 FXYD2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.66 HNF1B
34 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.66 HNF1B
35 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.66 FXYD2

Drugs & Therapeutics for Hypomagnesemia 2, Renal

Drugs for Hypomagnesemia 2, Renal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Magnesium oxide Approved Not Applicable 1309-48-4 14792
2
Zinc Approved, Investigational Not Applicable 7440-66-6
3 Insulin, Globin Zinc Not Applicable
4 Magnesium Supplement Not Applicable
5 insulin Not Applicable
6 Hypoglycemic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Impact of Magnesium Supplementation on Insulin Resistance and Secretion in Renal Transplant Recipients Completed NCT01291030 Not Applicable

Search NIH Clinical Center for Hypomagnesemia 2, Renal

Genetic Tests for Hypomagnesemia 2, Renal

Genetic tests related to Hypomagnesemia 2, Renal:

# Genetic test Affiliating Genes
1 Renal Magnesium Wasting 29 FXYD2

Anatomical Context for Hypomagnesemia 2, Renal

MalaCards organs/tissues related to Hypomagnesemia 2, Renal:

41
Kidney

Publications for Hypomagnesemia 2, Renal

Articles related to Hypomagnesemia 2, Renal:

# Title Authors Year
1
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. ( 17033971 )
2006

Variations for Hypomagnesemia 2, Renal

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 2, Renal:

75
# Symbol AA change Variation ID SNP ID
1 FXYD2 p.Gly41Arg VAR_013280 rs28938168

ClinVar genetic disease variations for Hypomagnesemia 2, Renal:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 FXYD2 NM_021603.3(FXYD2): c.115G> A (p.Gly39Arg) single nucleotide variant Pathogenic rs28938168 GRCh37 Chromosome 11, 117693139: 117693139
2 FXYD2 NM_021603.3(FXYD2): c.115G> A (p.Gly39Arg) single nucleotide variant Pathogenic rs28938168 GRCh38 Chromosome 11, 117822424: 117822424
3 FXYD2 NM_001680.4(FXYD2): c.*215G> A single nucleotide variant Likely benign rs41304349 GRCh37 Chromosome 11, 117690879: 117690879
4 FXYD2 NM_001680.4(FXYD2): c.*215G> A single nucleotide variant Likely benign rs41304349 GRCh38 Chromosome 11, 117820164: 117820164
5 FXYD2 NM_001680.4(FXYD2): c.*124T> A single nucleotide variant Uncertain significance rs756608243 GRCh37 Chromosome 11, 117690970: 117690970
6 FXYD2 NM_001680.4(FXYD2): c.*124T> A single nucleotide variant Uncertain significance rs756608243 GRCh38 Chromosome 11, 117820255: 117820255
7 FXYD2 NM_001680.4(FXYD2): c.*105C> T single nucleotide variant Likely benign rs78017409 GRCh37 Chromosome 11, 117690989: 117690989
8 FXYD2 NM_001680.4(FXYD2): c.*105C> T single nucleotide variant Likely benign rs78017409 GRCh38 Chromosome 11, 117820274: 117820274
9 FXYD2 NM_001680.4(FXYD2): c.*78C> A single nucleotide variant Likely benign rs114952534 GRCh37 Chromosome 11, 117691016: 117691016
10 FXYD2 NM_001680.4(FXYD2): c.*78C> A single nucleotide variant Likely benign rs114952534 GRCh38 Chromosome 11, 117820301: 117820301
11 FXYD2 NM_001680.4(FXYD2): c.183C> T (p.Ile61=) single nucleotide variant Likely benign rs201669990 GRCh37 Chromosome 11, 117691405: 117691405
12 FXYD2 NM_001680.4(FXYD2): c.183C> T (p.Ile61=) single nucleotide variant Likely benign rs201669990 GRCh38 Chromosome 11, 117820690: 117820690
13 CNNM2 NM_017649.4(CNNM2): c.*53G> A single nucleotide variant Uncertain significance rs886046672 GRCh37 Chromosome 10, 104836990: 104836990
14 CNNM2 NM_017649.4(CNNM2): c.801C> T (p.Cys267=) single nucleotide variant Likely benign rs367789750 GRCh37 Chromosome 10, 104679038: 104679038
15 CNNM2 NM_017649.4(CNNM2): c.801C> T (p.Cys267=) single nucleotide variant Likely benign rs367789750 GRCh38 Chromosome 10, 102919281: 102919281
16 CNNM2 NM_017649.4(CNNM2): c.1515C> T (p.Pro505=) single nucleotide variant Uncertain significance rs144140948 GRCh37 Chromosome 10, 104679752: 104679752
17 CNNM2 NM_017649.4(CNNM2): c.1515C> T (p.Pro505=) single nucleotide variant Uncertain significance rs144140948 GRCh38 Chromosome 10, 102919995: 102919995
18 CNNM2 NM_017649.4(CNNM2): c.*3C> T single nucleotide variant Benign rs2296568 GRCh37 Chromosome 10, 104836940: 104836940
19 CNNM2 NM_017649.4(CNNM2): c.*3C> T single nucleotide variant Benign rs2296568 GRCh38 Chromosome 10, 103077183: 103077183
20 CNNM2 NM_017649.4(CNNM2): c.*53G> A single nucleotide variant Uncertain significance rs886046672 GRCh38 Chromosome 10, 103077233: 103077233
21 CNNM2 NM_017649.4(CNNM2): c.*690C> T single nucleotide variant Uncertain significance rs886046675 GRCh37 Chromosome 10, 104837627: 104837627
22 CNNM2 NM_017649.4(CNNM2): c.*690C> T single nucleotide variant Uncertain significance rs886046675 GRCh38 Chromosome 10, 103077870: 103077870
23 FXYD2 NM_001680.4(FXYD2): c.*176T> G single nucleotide variant Benign rs11999 GRCh37 Chromosome 11, 117690918: 117690918
24 FXYD2 NM_001680.4(FXYD2): c.*176T> G single nucleotide variant Benign rs11999 GRCh38 Chromosome 11, 117820203: 117820203
25 FXYD2 NM_001680.4(FXYD2): c.*71G> A single nucleotide variant Likely benign rs565539331 GRCh37 Chromosome 11, 117691023: 117691023
26 FXYD2 NM_001680.4(FXYD2): c.*71G> A single nucleotide variant Likely benign rs565539331 GRCh38 Chromosome 11, 117820308: 117820308
27 FXYD2 NM_001680.4(FXYD2): c.195G> A (p.Glu65=) single nucleotide variant Likely benign rs144519777 GRCh37 Chromosome 11, 117691393: 117691393
28 FXYD2 NM_001680.4(FXYD2): c.195G> A (p.Glu65=) single nucleotide variant Likely benign rs144519777 GRCh38 Chromosome 11, 117820678: 117820678
29 FXYD2 NM_001680.4(FXYD2): c.76G> A (p.Val26Ile) single nucleotide variant Likely benign rs149878562 GRCh37 Chromosome 11, 117693184: 117693184
30 FXYD2 NM_001680.4(FXYD2): c.76G> A (p.Val26Ile) single nucleotide variant Likely benign rs149878562 GRCh38 Chromosome 11, 117822469: 117822469
31 CNNM2 NM_017649.4(CNNM2): c.-65G> A single nucleotide variant Uncertain significance rs886046668 GRCh37 Chromosome 10, 104678173: 104678173
32 CNNM2 NM_017649.4(CNNM2): c.-65G> A single nucleotide variant Uncertain significance rs886046668 GRCh38 Chromosome 10, 102918416: 102918416
33 CNNM2 NM_017649.4(CNNM2): c.604G> A (p.Ala202Thr) single nucleotide variant Likely benign rs75800852 GRCh37 Chromosome 10, 104678841: 104678841
34 CNNM2 NM_017649.4(CNNM2): c.604G> A (p.Ala202Thr) single nucleotide variant Likely benign rs75800852 GRCh38 Chromosome 10, 102919084: 102919084
35 CNNM2 NM_017649.4(CNNM2): c.1134C> T (p.Leu378=) single nucleotide variant Benign rs2297785 GRCh37 Chromosome 10, 104679371: 104679371
36 CNNM2 NM_017649.4(CNNM2): c.1134C> T (p.Leu378=) single nucleotide variant Benign rs2297785 GRCh38 Chromosome 10, 102919614: 102919614
37 CNNM2 NM_017649.4(CNNM2): c.1622-6C> T single nucleotide variant Likely benign rs74464353 GRCh37 Chromosome 10, 104809458: 104809458
38 CNNM2 NM_017649.4(CNNM2): c.1622-6C> T single nucleotide variant Likely benign rs74464353 GRCh38 Chromosome 10, 103049701: 103049701
39 CNNM2 NM_017649.4(CNNM2): c.*205G> A single nucleotide variant Uncertain significance rs886046673 GRCh37 Chromosome 10, 104837142: 104837142
40 CNNM2 NM_017649.4(CNNM2): c.*205G> A single nucleotide variant Uncertain significance rs886046673 GRCh38 Chromosome 10, 103077385: 103077385
41 CNNM2 NM_017649.4(CNNM2): c.*879G> A single nucleotide variant Benign rs1046411 GRCh37 Chromosome 10, 104837816: 104837816
42 CNNM2 NM_017649.4(CNNM2): c.*879G> A single nucleotide variant Benign rs1046411 GRCh38 Chromosome 10, 103078059: 103078059
43 CNNM2 NM_017649.4(CNNM2): c.*904G> C single nucleotide variant Likely benign rs145537350 GRCh37 Chromosome 10, 104837841: 104837841
44 CNNM2 NM_017649.4(CNNM2): c.*904G> C single nucleotide variant Likely benign rs145537350 GRCh38 Chromosome 10, 103078084: 103078084
45 FXYD2 NM_001680.4(FXYD2): c.45C> T (p.Asp15=) single nucleotide variant Likely benign rs35705701 GRCh37 Chromosome 11, 117693413: 117693413
46 FXYD2 NM_001680.4(FXYD2): c.45C> T (p.Asp15=) single nucleotide variant Likely benign rs35705701 GRCh38 Chromosome 11, 117822698: 117822698
47 FXYD2 NM_001680.4(FXYD2): c.*188C> T single nucleotide variant Uncertain significance rs886047704 GRCh37 Chromosome 11, 117690906: 117690906
48 FXYD2 NM_001680.4(FXYD2): c.*188C> T single nucleotide variant Uncertain significance rs886047704 GRCh38 Chromosome 11, 117820191: 117820191
49 FXYD2 NM_001680.4(FXYD2): c.*6+6C> A single nucleotide variant Likely benign rs11827585 GRCh37 Chromosome 11, 117691375: 117691375
50 FXYD2 NM_001680.4(FXYD2): c.*6+6C> A single nucleotide variant Likely benign rs11827585 GRCh38 Chromosome 11, 117820660: 117820660

Expression for Hypomagnesemia 2, Renal

Search GEO for disease gene expression data for Hypomagnesemia 2, Renal.

Pathways for Hypomagnesemia 2, Renal

GO Terms for Hypomagnesemia 2, Renal

Biological processes related to Hypomagnesemia 2, Renal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 8.62 CLDN16 FXYD2

Sources for Hypomagnesemia 2, Renal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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