HOMG4
MCID: HYP302
MIFTS: 36

Hypomagnesemia 4, Renal (HOMG4)

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

Aliases & Classifications for Hypomagnesemia 4, Renal

MalaCards integrated aliases for Hypomagnesemia 4, Renal:

Name: Hypomagnesemia 4, Renal 57 29 13 6 70
Homg4 57 12 72
Renal Hypomagnesemia 4 12 15
Hypomagnesemia, Renal, Normocalciuric 57
Renal Hypomagnesemia Normocalciuric 72
Hypomagnesemia, Type 4, Renal 39
Hypomagnesemia 4 72

Characteristics:

HPO:

31
hypomagnesemia 4, renal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060882
OMIM® 57 611718
OMIM Phenotypic Series 57 PS602014
MeSH 44 D015499
ICD10 32 E83.4
MedGen 41 C2673648
UMLS 70 C2673648

Summaries for Hypomagnesemia 4, Renal

UniProtKB/Swiss-Prot : 72 Hypomagnesemia 4: A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.

MalaCards based summary : Hypomagnesemia 4, Renal, also known as homg4, is related to hypomagnesemia 3, renal and arthrogryposis, distal, type 3. An important gene associated with Hypomagnesemia 4, Renal is EGF (Epidermal Growth Factor), 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. Related phenotypes are global developmental delay and intellectual disability, moderate

Disease Ontology : 12 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material basis in variation in the chromosome region 4q25.

More information from OMIM: 611718 PS602014

Related Diseases for Hypomagnesemia 4, Renal

Diseases in the Hypomagnesemia 3, Renal family:

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

Diseases related to Hypomagnesemia 4, Renal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 3, renal 10.0 TRPM6 OXSR1
2 arthrogryposis, distal, type 3 9.9 WNK3 OXSR1
3 gitelman syndrome 9.9 WNK3 TRPM6
4 distal arthrogryposis 9.8 WNK3 OXSR1 EGF
5 eye disease 9.6 TRPM6 SLC12A4 EGF
6 agenesis of the corpus callosum with peripheral neuropathy 9.5 WNK3 SLC12A7 SLC12A4
7 bartter disease 8.5 WNK3 WNK2 TRPM6 SLC12A7 SLC12A4 OXSR1

Graphical network of the top 20 diseases related to Hypomagnesemia 4, Renal:



Diseases related to Hypomagnesemia 4, Renal

Symptoms & Phenotypes for Hypomagnesemia 4, Renal

Human phenotypes related to Hypomagnesemia 4, Renal:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 intellectual disability, moderate 31 very rare (1%) HP:0002342
3 hypomagnesemia 31 very rare (1%) HP:0002917
4 seizure 31 very rare (1%) HP:0001250

Clinical features from OMIM®:

611718 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Hypomagnesemia 4, Renal according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.58 TRPM6 WNK3
2 Decreased viability GR00221-A-2 9.58 TRPM6 WNK2 WNK3
3 Decreased viability GR00221-A-3 9.58 WNK2
4 Decreased viability GR00221-A-4 9.58 TRPM6 WNK2 WNK3
5 Decreased simian virus 40 (SV40) infection GR00356-A-2 8.96 OXSR1 WNK2

Drugs & Therapeutics for Hypomagnesemia 4, Renal

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia 4, Renal

Genetic Tests for Hypomagnesemia 4, Renal

Genetic tests related to Hypomagnesemia 4, Renal:

# Genetic test Affiliating Genes
1 Hypomagnesemia 4, Renal 29 EGF

Anatomical Context for Hypomagnesemia 4, Renal

Publications for Hypomagnesemia 4, Renal

Articles related to Hypomagnesemia 4, Renal:

# Title Authors PMID Year
1
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. 57 6
17671655 2007
2
Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss. 57
12584272 2003
3
Isolated autosomal recessive renal magnesium loss in two sisters. 57
3436090 1987
4
An open-label single-arm, phase II trial of zalutumumab, a human monoclonal anti-EGFR antibody, in patients with platinum-refractory squamous cell carcinoma of the head and neck. 61
24714973 2014

Variations for Hypomagnesemia 4, Renal

ClinVar genetic disease variations for Hypomagnesemia 4, Renal:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EGF NM_001963.6(EGF):c.3209C>T (p.Pro1070Leu) SNV Pathogenic 16614 rs121434567 GRCh37: 4:110925696-110925696
GRCh38: 4:110004540-110004540
2 EGF NM_001963.6(EGF):c.1801C>T (p.Arg601Ter) SNV Pathogenic 997518 GRCh37: 4:110895935-110895935
GRCh38: 4:109974779-109974779
3 EGF NM_001963.6(EGF):c.1189+1G>A SNV Pathogenic 1033874 GRCh37: 4:110882146-110882146
GRCh38: 4:109960990-109960990
4 EGF NM_001963.6(EGF):c.3487C>T (p.Arg1163Ter) SNV Pathogenic 1033875 GRCh37: 4:110932474-110932474
GRCh38: 4:110011318-110011318
5 EGF NM_001963.6(EGF):c.1258T>G (p.Leu420Val) SNV Uncertain significance 901700 GRCh37: 4:110883087-110883087
GRCh38: 4:109961931-109961931
6 EGF NM_001963.6(EGF):c.1404C>T (p.Asp468=) SNV Uncertain significance 901701 GRCh37: 4:110884420-110884420
GRCh38: 4:109963264-109963264
7 EGF NM_001963.6(EGF):c.1416T>A (p.Asp472Glu) SNV Uncertain significance 901702 GRCh37: 4:110884432-110884432
GRCh38: 4:109963276-109963276
8 EGF NM_001963.6(EGF):c.2682T>G (p.Gly894=) SNV Uncertain significance 901762 GRCh37: 4:110909813-110909813
GRCh38: 4:109988657-109988657
9 EGF NM_001963.6(EGF):c.3006-11T>G SNV Uncertain significance 902667 GRCh37: 4:110920824-110920824
GRCh38: 4:109999668-109999668
10 EGF NM_001963.6(EGF):c.*937G>T SNV Uncertain significance 902738 GRCh37: 4:110933548-110933548
GRCh38: 4:110012392-110012392
11 EGF NM_001963.6(EGF):c.*1005A>G SNV Uncertain significance 902739 GRCh37: 4:110933616-110933616
GRCh38: 4:110012460-110012460
12 EGF NM_001963.6(EGF):c.*1068G>A SNV Uncertain significance 902740 GRCh37: 4:110933679-110933679
GRCh38: 4:110012523-110012523
13 EGF NM_001963.6(EGF):c.*1220G>A SNV Uncertain significance 902741 GRCh37: 4:110933831-110933831
GRCh38: 4:110012675-110012675
14 EGF NM_001963.6(EGF):c.-228G>C SNV Uncertain significance 903585 GRCh37: 4:110834264-110834264
GRCh38: 4:109913108-109913108
15 EGF NM_001963.6(EGF):c.-361C>G SNV Uncertain significance 901633 GRCh37: 4:110834131-110834131
GRCh38: 4:109912975-109912975
16 EGF NM_001963.6(EGF):c.-342C>G SNV Uncertain significance 901634 GRCh37: 4:110834150-110834150
GRCh38: 4:109912994-109912994
17 EGF NM_001963.6(EGF):c.-273T>C SNV Uncertain significance 901635 GRCh37: 4:110834219-110834219
GRCh38: 4:109913063-109913063
18 EGF NM_001963.6(EGF):c.-270T>G SNV Uncertain significance 901636 GRCh37: 4:110834222-110834222
GRCh38: 4:109913066-109913066
19 EGF NM_001963.6(EGF):c.-60C>T SNV Uncertain significance 903587 GRCh37: 4:110834432-110834432
GRCh38: 4:109913276-109913276
20 EGF NM_001963.6(EGF):c.1575+6G>T SNV Uncertain significance 903649 GRCh37: 4:110885699-110885699
GRCh38: 4:109964543-109964543
21 EGF NM_001963.6(EGF):c.1684G>C (p.Val562Leu) SNV Uncertain significance 903650 GRCh37: 4:110890235-110890235
GRCh38: 4:109969079-109969079
22 EGF NM_001963.6(EGF):c.3292-7T>C SNV Uncertain significance 781980 rs200524686 GRCh37: 4:110929301-110929301
GRCh38: 4:110008145-110008145
23 EGF NM_001963.6(EGF):c.2337G>A (p.Thr779=) SNV Uncertain significance 901215 GRCh37: 4:110902097-110902097
GRCh38: 4:109980941-109980941
24 EGF NM_001963.6(EGF):c.2940C>T (p.His980=) SNV Uncertain significance 762136 rs140319442 GRCh37: 4:110915971-110915971
GRCh38: 4:109994815-109994815
25 EGF NM_001963.6(EGF):c.1602G>A (p.Lys534=) SNV Uncertain significance 778314 rs140682556 GRCh37: 4:110890153-110890153
GRCh38: 4:109968997-109968997
26 EGF NM_001963.6(EGF):c.3530G>C (p.Gly1177Ala) SNV Uncertain significance 347261 rs140730971 GRCh37: 4:110932517-110932517
GRCh38: 4:110011361-110011361
27 EGF NM_001963.6(EGF):c.1491T>C (p.His497=) SNV Uncertain significance 347236 rs377445081 GRCh37: 4:110885609-110885609
GRCh38: 4:109964453-109964453
28 EGF NM_001963.6(EGF):c.57T>C (p.Ser19=) SNV Uncertain significance 721901 rs767958539 GRCh37: 4:110834548-110834548
GRCh38: 4:109913392-109913392
29 EGF NM_001963.6(EGF):c.1137C>T (p.Tyr379=) SNV Uncertain significance 730986 rs971946479 GRCh37: 4:110882093-110882093
GRCh38: 4:109960937-109960937
30 EGF NM_001963.6(EGF):c.2362C>T (p.Leu788=) SNV Uncertain significance 739998 rs376855018 GRCh37: 4:110902122-110902122
GRCh38: 4:109980966-109980966
31 EGF NM_001963.6(EGF):c.2760G>A (p.Glu920=) SNV Uncertain significance 762429 rs760507781 GRCh37: 4:110914428-110914428
GRCh38: 4:109993272-109993272
32 EGF NM_001963.6(EGF):c.803C>A (p.Thr268Lys) SNV Uncertain significance 931532 GRCh37: 4:110866294-110866294
GRCh38: 4:109945138-109945138
33 EGF NM_001963.6(EGF):c.47G>C (p.Ser16Thr) SNV Uncertain significance 347225 rs200394315 GRCh37: 4:110834538-110834538
GRCh38: 4:109913382-109913382
34 EGF NM_001963.6(EGF):c.791G>A (p.Trp264Ter) SNV Uncertain significance 632423 rs867950317 GRCh37: 4:110866282-110866282
GRCh38: 4:109945126-109945126
35 EGF NM_001963.6(EGF):c.1180C>T (p.Arg394Ter) SNV Uncertain significance 632424 rs369702571 GRCh37: 4:110882136-110882136
GRCh38: 4:109960980-109960980
36 EGF NM_001963.6(EGF):c.*157G>A SNV Uncertain significance 347265 rs190671898 GRCh37: 4:110932768-110932768
GRCh38: 4:110011612-110011612
37 EGF NM_001963.6(EGF):c.2755G>A (p.Gly919Arg) SNV Uncertain significance 347251 rs886058994 GRCh37: 4:110914423-110914423
GRCh38: 4:109993267-109993267
38 EGF NM_001963.6(EGF):c.*361T>C SNV Uncertain significance 347268 rs542979630 GRCh37: 4:110932972-110932972
GRCh38: 4:110011816-110011816
39 EGF NM_001963.6(EGF):c.3073G>T (p.Ala1025Ser) SNV Uncertain significance 347254 rs149056615 GRCh37: 4:110920902-110920902
GRCh38: 4:109999746-109999746
40 EGF NM_001963.6(EGF):c.1575+6G>A SNV Uncertain significance 347237 rs148355596 GRCh37: 4:110885699-110885699
GRCh38: 4:109964543-109964543
41 EGF NM_001963.6(EGF):c.3346G>T (p.Gly1116Cys) SNV Uncertain significance 347257 rs886058995 GRCh37: 4:110929362-110929362
GRCh38: 4:110008206-110008206
42 EGF NM_001963.6(EGF):c.*561G>C SNV Uncertain significance 347274 rs11569147 GRCh37: 4:110933172-110933172
GRCh38: 4:110012016-110012016
43 EGF NM_001963.6(EGF):c.*1001C>G SNV Uncertain significance 347280 rs765122805 GRCh37: 4:110933612-110933612
GRCh38: 4:110012456-110012456
44 EGF NM_001963.6(EGF):c.*67A>G SNV Uncertain significance 347263 rs572682450 GRCh37: 4:110932678-110932678
GRCh38: 4:110011522-110011522
45 EGF NM_001963.6(EGF):c.*184A>C SNV Uncertain significance 347266 rs886058997 GRCh37: 4:110932795-110932795
GRCh38: 4:110011639-110011639
46 EGF NM_001963.6(EGF):c.-265G>T SNV Uncertain significance 347220 rs886058989 GRCh37: 4:110834227-110834227
GRCh38: 4:109913071-109913071
47 EGF NM_001963.6(EGF):c.1818T>C (p.His606=) SNV Uncertain significance 347240 rs139266578 GRCh37: 4:110895952-110895952
GRCh38: 4:109974796-109974796
48 EGF NM_001963.6(EGF):c.2088T>C (p.Tyr696=) SNV Uncertain significance 347243 rs375886742 GRCh37: 4:110901162-110901162
GRCh38: 4:109980006-109980006
49 EGF NM_001963.6(EGF):c.2608+14G>A SNV Uncertain significance 347249 rs886058992 GRCh37: 4:110909030-110909030
GRCh38: 4:109987874-109987874
50 EGF NM_001963.6(EGF):c.*835G>A SNV Uncertain significance 347275 rs886058999 GRCh37: 4:110933446-110933446
GRCh38: 4:110012290-110012290

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 4, Renal:

72
# Symbol AA change Variation ID SNP ID
1 EGF p.Pro1070Leu VAR_039474 rs121434567

Expression for Hypomagnesemia 4, Renal

Search GEO for disease gene expression data for Hypomagnesemia 4, Renal.

Pathways for Hypomagnesemia 4, Renal

GO Terms for Hypomagnesemia 4, Renal

Biological processes related to Hypomagnesemia 4, Renal according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.88 WNK3 WNK2 TRPM6 OXSR1
2 ion transport GO:0006811 9.87 TRPM6 SLC12A7 SLC12A4 KCNJ15
3 protein phosphorylation GO:0006468 9.85 WNK3 WNK2 TRPM6 OXSR1
4 intracellular signal transduction GO:0035556 9.77 WNK3 WNK2 OXSR1
5 protein autophosphorylation GO:0046777 9.71 WNK3 WNK2 OXSR1
6 potassium ion transport GO:0006813 9.67 SLC12A7 SLC12A4 KCNJ15
7 potassium ion transmembrane transport GO:0071805 9.65 SLC12A7 SLC12A4 KCNJ15
8 peptidyl-threonine phosphorylation GO:0018107 9.58 WNK3 OXSR1
9 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.56 WNK3 EGF
10 ion homeostasis GO:0050801 9.52 WNK3 WNK2
11 potassium ion homeostasis GO:0055075 9.51 SLC12A7 SLC12A4
12 chloride ion homeostasis GO:0055064 9.46 SLC12A7 SLC12A4
13 regulation of calcium ion import GO:0090279 9.43 WNK3 EGF
14 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.4 WNK3 WNK2
15 positive regulation of potassium ion import GO:1903288 9.37 WNK3 WNK2
16 negative regulation of sodium ion transport GO:0010766 9.32 WNK3 WNK2
17 ammonium import across plasma membrane GO:0140157 9.26 SLC12A7 SLC12A4
18 osmosensory signaling pathway GO:0007231 9.16 WNK3 OXSR1
19 potassium ion import across plasma membrane GO:1990573 9.13 SLC12A7 SLC12A4 KCNJ15
20 cell volume homeostasis GO:0006884 8.8 WNK3 SLC12A7 SLC12A4

Molecular functions related to Hypomagnesemia 4, Renal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.71 WNK3 WNK2 TRPM6 OXSR1
2 protein serine/threonine kinase activity GO:0004674 9.67 WNK3 WNK2 TRPM6 OXSR1
3 protein kinase binding GO:0019901 9.61 SLC12A7 SLC12A4 OXSR1
4 ammonium transmembrane transporter activity GO:0008519 9.32 SLC12A7 SLC12A4
5 chloride channel inhibitor activity GO:0019869 9.26 WNK3 WNK2
6 potassium channel inhibitor activity GO:0019870 9.16 WNK3 WNK2
7 potassium:chloride symporter activity GO:0015379 8.96 SLC12A7 SLC12A4
8 cation:chloride symporter activity GO:0015377 8.62 SLC12A7 SLC12A4

Sources for Hypomagnesemia 4, 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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