HOMG1
MCID: HYP550
MIFTS: 45

Hypomagnesemia 1, Intestinal (HOMG1)

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

Aliases & Classifications for Hypomagnesemia 1, Intestinal

MalaCards integrated aliases for Hypomagnesemia 1, Intestinal:

Name: Hypomagnesemia 1, Intestinal 57 29 13 6 70
Intestinal Hypomagnesemia with Secondary Hypocalcemia 12 20 43 58 72
Hypomagnesemic Tetany 57 12 20 43 72
Homg1 57 12 20 58 72
Hsh 57 20 43 58 72
Intestinal Hypomagnesemia 1 12 43 72 15
Hypomagnesemia Caused by Selective Magnesium Malabsorption 12 20 58
Primary Hypomagnesemia with Secondary Hypocalcemia 12 20 58
Hypomagnesemia with Secondary Hypocalcemia 57 43 72
Hypomagnesemia Intestinal Type 1 12 20 58
Homg 57 43 72
Phsh 20 58
Hypomagnesemia, Intestinal, with Secondary Hypocalcemia 57
Familial Primary Hypomagnesemia with Hypocalcuria 43
Hypomagnesemia with Secondary Hypocalcemia; Hsh 57
Hypomagnesemia, Secondary Hypocalcemia 39
Hypomagnesmic Tetany 70
Hypomagnesemia 1 72

Characteristics:

Orphanet epidemiological data:

58
primary hypomagnesemia with secondary hypocalcemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
hypomagnesemia 1, intestinal:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060883
OMIM® 57 602014
OMIM Phenotypic Series 57 PS602014
MeSH 44 D008286
ICD10 32 E83.4
ICD10 via Orphanet 33 E83.4
UMLS via Orphanet 71 C1865974
Orphanet 58 ORPHA30924
UMLS 70 C1321780 C1865974

Summaries for Hypomagnesemia 1, Intestinal

MedlinePlus Genetics : 43 Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia).Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is described as "secondary" because it occurs as a consequence of hypomagnesemia.Shortages of magnesium and calcium can cause neurological problems that begin in infancy, including painful muscle spasms (tetany) and seizures. If left untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at the expected rate (failure to thrive), and heart failure.

MalaCards based summary : Hypomagnesemia 1, Intestinal, also known as intestinal hypomagnesemia with secondary hypocalcemia, is related to hypomagnesemia 3, renal and primary hypomagnesemia, and has symptoms including seizures and spasm. An important gene associated with Hypomagnesemia 1, Intestinal is TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6), and among its related pathways/superpathways are Mineral absorption and Peroxisome. The drugs Inulin and Proton Pump Inhibitors have been mentioned in the context of this disorder. Related phenotypes are tetany and hypocalcemia

Disease Ontology : 12 A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material basis in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.

GARD : 20 Familial hypomagnesemia with secondary hypocalcemia is a disease characterized by very low magnesium levels in the blood. The disease begins during the first months of life with generalized and recurrent seizures which do not improve with usual treatment. Additional features include tetany ( spasms of the hands and feet, cramps, spasm of the voice box (larynx), and overactive neurological reflexes), failure to thrive, restlessness, tremors, muscle spasms, and bluish skin around the mouth (perioral cyanosis). Abnormal heart rhythm ( cardiac arrhythmia ) may be observed. The low levels of magnesium result in low levels of parathyroid hormone (PTH) and in low levels of calcium in the bloods ( hypocalcemia ). It is caused by mutations in the TRPM6 gene. Inheritance is autosomal recessive. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment involves giving magnesium, usually in the vein (intravenously), followed by life-long high-dose oral magnesium.

OMIM® : 57 Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (review by Knoers, 2009). (602014) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Hypomagnesemia 1: A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage.

Wikipedia : 73 Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting... more...

Related Diseases for Hypomagnesemia 1, Intestinal

Diseases related to Hypomagnesemia 1, Intestinal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 3, renal 31.8 TRPM6 CLDN16
2 primary hypomagnesemia 31.5 TRPM7 TRPM6 PTH CLDN19 CLDN16
3 hypocalcemia, autosomal dominant 1 30.7 TRPM6 PTH CLDN16
4 autosomal recessive disease 10.5
5 seizure disorder 10.2
6 hypomagnesemia 5, renal, with or without ocular involvement 10.2 CLDN19 CLDN16
7 bartter syndrome, type 1, antenatal 10.2 CLDN19 CLDN16
8 mutilating palmoplantar keratoderma with periorificial keratotic plaques 10.2 TRPM7 TRPM6
9 deafness, autosomal recessive 29 10.2 CLDN19 CLDN16
10 basal ganglia calcification 10.1
11 rickets 10.1
12 diarrhea 10.1
13 cerebral atrophy 10.1
14 bartter syndrome, type 3 10.1 TRPM6 CLDN19 CLDN16
15 gitelman syndrome 10.1 TRPM6 CLDN16
16 familial hypocalciuric hypercalcemia 10.0 PTH CLDN19 CLDN16
17 hereditary lymphedema 10.0 CLDN19 CLDN16
18 molybdenum cofactor deficiency, complementation group b 10.0 MOCS2 MOCS1
19 molybdenum cofactor deficiency 10.0 MOCS2 MOCS1
20 molybdenum cofactor deficiency, complementation group c 10.0 MOCS2 MOCS1
21 nephrolithiasis 10.0 PTH CLDN19 CLDN16
22 tremor 10.0
23 hereditary lymphedema i 10.0 CLDN19 CLDN16
24 molybdenum cofactor deficiency, complementation group a 10.0 MOCS2 MOCS1
25 encephalomalacia 10.0 MOCS2 MOCS1
26 alkaptonuria 9.9 MOCS2 MOCS1
27 bartter disease 9.9 TRPM6 PTH CLDN19 CLDN16
28 sulfite oxidase deficiency, isolated 9.9 MOCS2 MOCS1
29 nephrolithiasis, calcium oxalate 9.9 CLDN19 CLDN16
30 metal metabolism disorder 9.8 PTH MOCS2 MOCS1
31 chondrodysplasia punctata syndrome 9.7 PEX26 PEX12
32 zellweger spectrum disorder 9.6 PEX26 PEX12 PEX1
33 peroxisome biogenesis disorder 1a 9.6 PEX26 PEX12 PEX1
34 peroxisomal biogenesis disorder 9.6 PEX26 PEX12 PEX1
35 refsum disease, classic 9.6 PEX26 PEX12 PEX1
36 peroxisomal disease 9.6 PEX26 PEX12 PEX1
37 neonatal adrenoleukodystrophy 9.6 PEX26 PEX12 PEX1
38 adrenoleukodystrophy 9.6 PEX26 PEX12 PEX1
39 rhizomelic chondrodysplasia punctata 9.3 PEX26 PEX12 PEX1 MOCS2
40 peroxisome biogenesis disorder 1b 9.3 PEX26 PEX12 PEX1 MOCS2
41 zellweger syndrome 9.3 PEX26 PEX12 PEX1 MOCS2

Graphical network of the top 20 diseases related to Hypomagnesemia 1, Intestinal:



Diseases related to Hypomagnesemia 1, Intestinal

Symptoms & Phenotypes for Hypomagnesemia 1, Intestinal

Human phenotypes related to Hypomagnesemia 1, Intestinal:

31
# Description HPO Frequency HPO Source Accession
1 tetany 31 HP:0001281
2 hypocalcemia 31 HP:0002901
3 hypomagnesemia 31 HP:0002917
4 muscle spasm 31 HP:0003394
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures

Laboratory Abnormalities:
hypocalcemia
hypomagnesemia

Muscle Soft Tissue:
tetany
muscle spasm

Clinical features from OMIM®:

602014 (Updated 20-May-2021)

UMLS symptoms related to Hypomagnesemia 1, Intestinal:


seizures; spasm

MGI Mouse Phenotypes related to Hypomagnesemia 1, Intestinal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.28 CLDN16 CLDN19 MOCS2 PEX1 PEX26 PTH

Drugs & Therapeutics for Hypomagnesemia 1, Intestinal

Drugs for Hypomagnesemia 1, Intestinal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Inulin Approved, Investigational, Nutraceutical 9005-80-5 24763
2 Proton Pump Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inulin- a Potential Preventive Dietary Supplement Against PPI Induced Hypomagnesemia Completed NCT02518659

Search NIH Clinical Center for Hypomagnesemia 1, Intestinal

Genetic Tests for Hypomagnesemia 1, Intestinal

Genetic tests related to Hypomagnesemia 1, Intestinal:

# Genetic test Affiliating Genes
1 Hypomagnesemia 1, Intestinal 29 TRPM6

Anatomical Context for Hypomagnesemia 1, Intestinal

Publications for Hypomagnesemia 1, Intestinal

Articles related to Hypomagnesemia 1, Intestinal:

(show all 21)
# Title Authors PMID Year
1
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. 6 57
23942199 2014
2
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. 57 6
12032568 2002
3
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. 57 6
12032570 2002
4
Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. 6 57
9285786 1997
5
Against all odds: blended phenotypes of three single-gene defects. 6
26813946 2016
6
Inherited forms of renal hypomagnesemia: an update. 57
18818955 2009
7
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. 6
16107578 2005
8
Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. 6
14976260 2004
9
Familial hypomagnesaemia with secondary hypocalcaemia: a new case that indicates autosomal recessive inheritance. 57
11916323 2001
10
LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability. 57
11385574 2001
11
TRP-PLIK, a bifunctional protein with kinase and ion channel activities. 57
11161216 2001
12
Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint. 57
8168840 1994
13
Case report: hypomagnesaemia in a patient with acromesomelic dysplasia. 57
8281387 1993
14
Familial hypomagnesaemia with secondary hypocalcaemia--autosomal or X-linked inheritance? 57
1770801 1991
15
Primary hypomagnesaemia, an autosomal recessive inherited disease? 57
6132241 1983
16
Parathyroid hormone secretion and responsiveness to parathyroid hormone in primary hypomagnesemia. 57
6853131 1983
17
Primary hypomagnesaemia, an X-borne allele? 57
6132053 1983
18
[Magnesium deficiency in children]. 57
6762859 1982
19
[Demonstration of the familial nature of chronic congenital hypomagnesemia]. 57
5425829 1970
20
Tetany due to hypomagnesaemia with secondary hypocalcaemia. 57
5419995 1970
21
A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6. 61
30911400 2019

Variations for Hypomagnesemia 1, Intestinal

ClinVar genetic disease variations for Hypomagnesemia 1, Intestinal:

6 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPM6 NM_017662.5(TRPM6):c.1769C>G (p.Ser590Ter) SNV Pathogenic 3575 rs121912622 GRCh37: 9:77417054-77417054
GRCh38: 9:74802138-74802138
2 TRPM6 NM_017662.5(TRPM6):c.1280del (p.His427fs) Deletion Pathogenic 3577 rs1587538382 GRCh37: 9:77431613-77431613
GRCh38: 9:74816697-74816697
3 TRPM6 TRPM6, 13-BP DEL, NT3779 Deletion Pathogenic 3578 GRCh37:
GRCh38:
4 TRPM6 NM_017662.5(TRPM6):c.2208del (p.Arg736fs) Deletion Pathogenic 3579 rs1587520094 GRCh37: 9:77415200-77415200
GRCh38: 9:74800284-74800284
5 TRPM6 NM_017662.5(TRPM6):c.2009+1G>A SNV Pathogenic 3580 rs1587522206 GRCh37: 9:77416813-77416813
GRCh38: 9:74801897-74801897
6 TRPM6 NM_017662.5(TRPM6):c.1420C>T (p.Arg474Ter) SNV Pathogenic 3581 rs121912623 GRCh37: 9:77427238-77427238
GRCh38: 9:74812322-74812322
7 TRPM6 NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter) SNV Pathogenic 3582 rs121912624 GRCh37: 9:77457246-77457246
GRCh38: 9:74842330-74842330
8 TRPM6 NM_017662.5(TRPM6):c.1010+5G>C SNV Pathogenic 3583 rs1587543641 GRCh37: 9:77436580-77436580
GRCh38: 9:74821664-74821664
9 TRPM6 TRPM6, IVS23AS, A-G, -68 SNV Pathogenic 3584 GRCh37:
GRCh38:
10 TRPM6 NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu) SNV Pathogenic 3585 rs121912625 GRCh37: 9:77455062-77455062
GRCh38: 9:74840146-74840146
11 TRPM6 NM_017662.5(TRPM6):c.3173A>G (p.Tyr1058Cys) SNV Pathogenic 210059 rs797045204 GRCh37: 9:77397314-77397314
GRCh38: 9:74782398-74782398
12 TRPM6 NM_017662.5(TRPM6):c.2667+1G>A SNV Pathogenic 218238 rs869025214 GRCh37: 9:77403529-77403529
GRCh38: 9:74788613-74788613
13 TRPM6 NM_017662.5(TRPM6):c.3357C>A (p.Cys1119Ter) SNV Pathogenic 427900 rs1114167360 GRCh37: 9:77390845-77390845
GRCh38: 9:74775929-74775929
14 TRPM7 NM_017672.6(TRPM7):c.3137G>A (p.Gly1046Asp) SNV Pathogenic 974783 GRCh37: 15:50891345-50891345
GRCh38: 15:50599148-50599148
15 TRPM6 NM_017662.5(TRPM6):c.841+1G>A SNV Pathogenic 1030275 GRCh37: 9:77442693-77442693
GRCh38: 9:74827777-74827777
16 TRPM6 NM_017662.5(TRPM6):c.2495A>G (p.Tyr832Cys) SNV Likely pathogenic 403726 rs1060499646 GRCh37: 9:77407583-77407583
GRCh38: 9:74792667-74792667
17 TRPM6 NM_017662.5(TRPM6):c.*2017G>A SNV Uncertain significance 367268 rs1057515626 GRCh37: 9:77337512-77337512
GRCh38: 9:74722596-74722596
18 TRPM6 NM_017662.5(TRPM6):c.*742_*743AT[4] Microsatellite Uncertain significance 367282 rs377601263 GRCh37: 9:77338778-77338779
GRCh38: 9:74723862-74723863
19 TRPM6 NM_017662.5(TRPM6):c.945G>A (p.Val315=) SNV Uncertain significance 367328 rs755989609 GRCh37: 9:77436650-77436650
GRCh38: 9:74821734-74821734
20 TRPM6 NM_017662.5(TRPM6):c.*516A>G SNV Uncertain significance 367288 rs1057515634 GRCh37: 9:77339013-77339013
GRCh38: 9:74724097-74724097
21 TRPM6 NM_017662.5(TRPM6):c.3798G>A (p.Glu1266=) SNV Uncertain significance 367308 rs148075951 GRCh37: 9:77377789-77377789
GRCh38: 9:74762873-74762873
22 TRPM6 NM_017662.5(TRPM6):c.*234G>T SNV Uncertain significance 912918 GRCh37: 9:77339295-77339295
GRCh38: 9:74724379-74724379
23 TRPM6 NM_017662.5(TRPM6):c.*189G>A SNV Uncertain significance 912919 GRCh37: 9:77339340-77339340
GRCh38: 9:74724424-74724424
24 TRPM6 NM_017662.5(TRPM6):c.*180C>T SNV Uncertain significance 912920 GRCh37: 9:77339349-77339349
GRCh38: 9:74724433-74724433
25 TRPM6 NM_017662.5(TRPM6):c.*162A>G SNV Uncertain significance 912921 GRCh37: 9:77339367-77339367
GRCh38: 9:74724451-74724451
26 TRPM6 NM_017662.5(TRPM6):c.4508C>T (p.Ser1503Leu) SNV Uncertain significance 912964 GRCh37: 9:77377079-77377079
GRCh38: 9:74762163-74762163
27 TRPM6 NM_017662.5(TRPM6):c.4291C>A (p.Pro1431Thr) SNV Uncertain significance 912965 GRCh37: 9:77377296-77377296
GRCh38: 9:74762380-74762380
28 TRPM6 NM_017662.5(TRPM6):c.4153G>T (p.Val1385Phe) SNV Uncertain significance 912966 GRCh37: 9:77377434-77377434
GRCh38: 9:74762518-74762518
29 TRPM6 NM_017662.5(TRPM6):c.3891G>T (p.Arg1297Ser) SNV Uncertain significance 912967 GRCh37: 9:77377696-77377696
GRCh38: 9:74762780-74762780
30 TRPM6 NM_017662.5(TRPM6):c.3863G>A (p.Gly1288Glu) SNV Uncertain significance 912968 GRCh37: 9:77377724-77377724
GRCh38: 9:74762808-74762808
31 TRPM6 NM_017662.5(TRPM6):c.2362G>A (p.Ala788Thr) SNV Uncertain significance 913008 GRCh37: 9:77411686-77411686
GRCh38: 9:74796770-74796770
32 TRPM6 NM_017662.5(TRPM6):c.2087C>T (p.Thr696Met) SNV Uncertain significance 913009 GRCh37: 9:77415321-77415321
GRCh38: 9:74800405-74800405
33 TRPM6 NM_017662.5(TRPM6):c.2066G>T (p.Arg689Leu) SNV Uncertain significance 913010 GRCh37: 9:77415342-77415342
GRCh38: 9:74800426-74800426
34 TRPM6 NM_017662.5(TRPM6):c.1647A>G (p.Arg549=) SNV Uncertain significance 367321 rs148657084 GRCh37: 9:77418794-77418794
GRCh38: 9:74803878-74803878
35 TRPM6 NM_017662.5(TRPM6):c.*108C>T SNV Uncertain significance 367293 rs530527539 GRCh37: 9:77339421-77339421
GRCh38: 9:74724505-74724505
36 TRPM6 NM_017662.5(TRPM6):c.3211A>G (p.Asn1071Asp) SNV Uncertain significance 367310 rs2274922 GRCh37: 9:77390991-77390991
GRCh38: 9:74776075-74776075
37 TRPM6 NM_017662.5(TRPM6):c.2445T>C (p.His815=) SNV Uncertain significance 367313 rs200248159 GRCh37: 9:77407633-77407633
GRCh38: 9:74792717-74792717
38 TRPM6 NM_017662.5(TRPM6):c.263C>T (p.Thr88Met) SNV Uncertain significance 367330 rs191344898 GRCh37: 9:77457149-77457149
GRCh38: 9:74842233-74842233
39 TRPM6 NM_017662.5(TRPM6):c.*527G>A SNV Uncertain significance 367287 rs202063887 GRCh37: 9:77339002-77339002
GRCh38: 9:74724086-74724086
40 TRPM6 NM_017662.5(TRPM6):c.*1914A>C SNV Uncertain significance 367270 rs1057515628 GRCh37: 9:77337615-77337615
GRCh38: 9:74722699-74722699
41 TRPM6 NM_017662.5(TRPM6):c.*1380T>C SNV Uncertain significance 367273 rs761376874 GRCh37: 9:77338149-77338149
GRCh38: 9:74723233-74723233
42 TRPM6 NM_017662.5(TRPM6):c.*302T>C SNV Uncertain significance 367290 rs1057515636 GRCh37: 9:77339227-77339227
GRCh38: 9:74724311-74724311
43 TRPM6 NM_017662.5(TRPM6):c.*737A>G SNV Uncertain significance 367284 rs1057515632 GRCh37: 9:77338792-77338792
GRCh38: 9:74723876-74723876
44 TRPM6 NM_017662.5(TRPM6):c.5936-8C>T SNV Uncertain significance 367296 rs746674627 GRCh37: 9:77339670-77339670
GRCh38: 9:74724754-74724754
45 TRPM6 NM_017662.5(TRPM6):c.*82G>A SNV Uncertain significance 367294 rs1057515637 GRCh37: 9:77339447-77339447
GRCh38: 9:74724531-74724531
46 TRPM6 NM_017662.5(TRPM6):c.2786G>T (p.Trp929Leu) SNV Uncertain significance 367311 rs1057515639 GRCh37: 9:77400923-77400923
GRCh38: 9:74786007-74786007
47 TRPM6 NM_017662.5(TRPM6):c.113+12A>C SNV Uncertain significance 367331 rs201888532 GRCh37: 9:77473573-77473573
GRCh38: 9:74858657-74858657
48 TRPM6 NM_017662.5(TRPM6):c.*1868C>T SNV Uncertain significance 367271 rs192845997 GRCh37: 9:77337661-77337661
GRCh38: 9:74722745-74722745
49 TRPM6 NM_017662.5(TRPM6):c.2319G>C (p.Gln773His) SNV Uncertain significance 367317 rs143164660 GRCh37: 9:77411729-77411729
GRCh38: 9:74796813-74796813
50 TRPM6 NM_017662.5(TRPM6):c.*886C>T SNV Uncertain significance 367277 rs550306103 GRCh37: 9:77338643-77338643
GRCh38: 9:74723727-74723727

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 1, Intestinal:

72
# Symbol AA change Variation ID SNP ID
1 TRPM6 p.Ser141Leu VAR_019963 rs121912625
2 TRPM6 p.Leu708Pro VAR_071480
3 TRPM6 p.Glu872Gly VAR_071481
4 TRPM6 p.Tyr1053Cys VAR_071482
5 TRPM6 p.Leu1143Pro VAR_071483
6 TRPM6 p.Ser1754Asn VAR_071484

Expression for Hypomagnesemia 1, Intestinal

Search GEO for disease gene expression data for Hypomagnesemia 1, Intestinal.

Pathways for Hypomagnesemia 1, Intestinal

Pathways related to Hypomagnesemia 1, Intestinal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 TRPM7 TRPM6
2 10.71 PEX26 PEX12 PEX1
3
Show member pathways
10.62 MOCS2 MOCS1
4 10.35 TRPM7 TRPM6

GO Terms for Hypomagnesemia 1, Intestinal

Cellular components related to Hypomagnesemia 1, Intestinal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.33 PEX26 PEX12 PEX1
2 integral component of peroxisomal membrane GO:0005779 9.26 PEX26 PEX12
3 peroxisomal membrane GO:0005778 9.13 PEX26 PEX12 PEX1
4 molybdopterin synthase complex GO:0019008 8.62 MOCS2 MOCS1

Biological processes related to Hypomagnesemia 1, Intestinal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bicellular tight junction assembly GO:0070830 9.46 CLDN19 CLDN16
2 peroxisome organization GO:0007031 9.43 PEX12 PEX1
3 protein tetramerization GO:0051262 9.4 TRPM7 TRPM6
4 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.37 CLDN19 CLDN16
5 divalent metal ion transport GO:0070838 9.32 TRPM7 TRPM6
6 molybdopterin cofactor biosynthetic process GO:0032324 9.26 MOCS2 MOCS1
7 Mo-molybdopterin cofactor biosynthetic process GO:0006777 9.16 MOCS2 MOCS1
8 protein targeting to peroxisome GO:0006625 9.13 PEX26 PEX12 PEX1
9 protein import into peroxisome matrix GO:0016558 8.8 PEX26 PEX12 PEX1

Molecular functions related to Hypomagnesemia 1, Intestinal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 8.96 TRPM7 TRPM6
2 protein C-terminus binding GO:0008022 8.8 PEX26 PEX12 PEX1

Sources for Hypomagnesemia 1, Intestinal

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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