MCID: HYP550
MIFTS: 35

Hypomagnesemia 1, Intestinal

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

Aliases & Classifications for Hypomagnesemia 1, Intestinal

MalaCards integrated aliases for Hypomagnesemia 1, Intestinal:

Name: Hypomagnesemia 1, Intestinal 57 29 13 6 73
Intestinal Hypomagnesemia with Secondary Hypocalcemia 12 53 25 59 75
Hypomagnesemic Tetany 57 12 53 25 75
Homg1 57 12 53 59 75
Hsh 57 53 25 59 75
Intestinal Hypomagnesemia 1 12 25 75 15
Hypomagnesemia Caused by Selective Magnesium Malabsorption 12 53 59
Primary Hypomagnesemia with Secondary Hypocalcemia 12 53 59
Hypomagnesemia with Secondary Hypocalcemia 57 25 75
Hypomagnesemia Intestinal Type 1 12 53 59
Homg 57 25 75
Phsh 53 59
Hypomagnesemia, Intestinal, with Secondary Hypocalcemia 57
Familial Primary Hypomagnesemia with Hypocalcuria 25
Hypomagnesemia with Secondary Hypocalcemia; Hsh 57
Hypomagnesemia, Secondary Hypocalcemia 40
Hypomagnesmic Tetany 73
Hypomagnesemia 1 75

Characteristics:

Orphanet epidemiological data:

59
primary hypomagnesemia with secondary hypocalcemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
hypomagnesemia 1, intestinal:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 602014
Disease Ontology 12 DOID:0060883
ICD10 33 E83.4
Orphanet 59 ORPHA30924
UMLS via Orphanet 74 C1865974
ICD10 via Orphanet 34 E83.4
MeSH 44 D008286

Summaries for Hypomagnesemia 1, Intestinal

NIH Rare Diseases : 53 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.

MalaCards based summary : Hypomagnesemia 1, Intestinal, also known as intestinal hypomagnesemia with secondary hypocalcemia, is related to primary hypomagnesemia and hypomagnesemia 3, renal, 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 Tight junction and Cell adhesion molecules (CAMs). Affiliated tissues include skin, kidney and heart, and related phenotypes are seizures and tetany

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.

Genetics Home Reference : 25 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).

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 primary hypomagnesemia 28.1 CLDN16 CLDN19 MGAM PTH TRPM6
2 hypomagnesemia 3, renal 11.0
3 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.9 MGAM TRPM6
4 hypophosphatemic rickets with hypercalciuria, hereditary 9.6 CLDN16 PTH
5 chronic kidney failure 9.2 CLDN16 PTH
6 nephrocalcinosis 9.1 CLDN16 CLDN19
7 mineral metabolism disease 9.1 CLDN16 MGAM PTH

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



Diseases related to Hypomagnesemia 1, Intestinal

Symptoms & Phenotypes for Hypomagnesemia 1, Intestinal

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle spasm
tetany

Laboratory Abnormalities:
hypomagnesemia
hypocalcemia

Neurologic Central Nervous System:
seizures


Clinical features from OMIM:

602014

Human phenotypes related to Hypomagnesemia 1, Intestinal:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 tetany 32 HP:0001281
3 hypocalcemia 32 HP:0002901
4 hypomagnesemia 32 HP:0002917

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 9.02 CLDN16 CLDN19 MGAM PTH TRPM6

Drugs & Therapeutics for Hypomagnesemia 1, Intestinal

Search Clinical Trials , 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

MalaCards organs/tissues related to Hypomagnesemia 1, Intestinal:

41
Skin, Kidney, Heart

Publications for Hypomagnesemia 1, Intestinal

Articles related to Hypomagnesemia 1, Intestinal:

# Title Authors Year
1
Hypomagnesemic tetany of ruminants. ( 3061613 )
1988

Variations for Hypomagnesemia 1, Intestinal

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

75
# 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

ClinVar genetic disease variations for Hypomagnesemia 1, Intestinal:

6
(show top 50) (show all 158)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPM6 NM_017662.4(TRPM6): c.1769C> G (p.Ser590Ter) single nucleotide variant Pathogenic rs121912622 GRCh37 Chromosome 9, 77417054: 77417054
2 TRPM6 NM_017662.4(TRPM6): c.1769C> G (p.Ser590Ter) single nucleotide variant Pathogenic rs121912622 GRCh38 Chromosome 9, 74802138: 74802138
3 TRPM6 TRPM6, 1-BP DEL, 1280A deletion Pathogenic
4 TRPM6 TRPM6, 13-BP DEL, NT3779 deletion Pathogenic
5 TRPM6 TRPM6, 1-BP DEL, 2207G deletion Pathogenic
6 TRPM6 TRPM6, IVS16DS, G-A, +1 single nucleotide variant Pathogenic
7 TRPM6 NM_017662.4(TRPM6): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs121912623 GRCh37 Chromosome 9, 77427238: 77427238
8 TRPM6 NM_017662.4(TRPM6): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs121912623 GRCh38 Chromosome 9, 74812322: 74812322
9 TRPM6 NM_017662.4(TRPM6): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121912624 GRCh37 Chromosome 9, 77457246: 77457246
10 TRPM6 NM_017662.4(TRPM6): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121912624 GRCh38 Chromosome 9, 74842330: 74842330
11 TRPM6 TRPM6, IVS8DS, G-C, +5 single nucleotide variant Pathogenic
12 TRPM6 TRPM6, IVS23AS, A-G, -68 single nucleotide variant Pathogenic
13 TRPM6 NM_017662.4(TRPM6): c.422C> T (p.Ser141Leu) single nucleotide variant Pathogenic rs121912625 GRCh37 Chromosome 9, 77455062: 77455062
14 TRPM6 NM_017662.4(TRPM6): c.422C> T (p.Ser141Leu) single nucleotide variant Pathogenic rs121912625 GRCh38 Chromosome 9, 74840146: 74840146
15 TRPM6 NM_017662.4(TRPM6): c.3173A> G (p.Tyr1058Cys) single nucleotide variant Pathogenic rs797045204 GRCh37 Chromosome 9, 77397314: 77397314
16 TRPM6 NM_017662.4(TRPM6): c.3173A> G (p.Tyr1058Cys) single nucleotide variant Pathogenic rs797045204 GRCh38 Chromosome 9, 74782398: 74782398
17 TRPM6 NM_017662.4(TRPM6): c.2667+1G> A single nucleotide variant Pathogenic rs869025214 GRCh38 Chromosome 9, 74788613: 74788613
18 TRPM6 NM_017662.4(TRPM6): c.2667+1G> A single nucleotide variant Pathogenic rs869025214 GRCh37 Chromosome 9, 77403529: 77403529
19 TRPM6 NM_017662.4(TRPM6): c.*2017G> A single nucleotide variant Uncertain significance rs1057515626 GRCh37 Chromosome 9, 77337512: 77337512
20 TRPM6 NM_017662.4(TRPM6): c.*2017G> A single nucleotide variant Uncertain significance rs1057515626 GRCh38 Chromosome 9, 74722596: 74722596
21 TRPM6 NM_017662.4(TRPM6): c.*1868C> T single nucleotide variant Uncertain significance rs192845997 GRCh37 Chromosome 9, 77337661: 77337661
22 TRPM6 NM_017662.4(TRPM6): c.*1868C> T single nucleotide variant Uncertain significance rs192845997 GRCh38 Chromosome 9, 74722745: 74722745
23 TRPM6 NM_017662.4(TRPM6): c.*913T> C single nucleotide variant Uncertain significance rs113586292 GRCh37 Chromosome 9, 77338616: 77338616
24 TRPM6 NM_017662.4(TRPM6): c.*913T> C single nucleotide variant Uncertain significance rs113586292 GRCh38 Chromosome 9, 74723700: 74723700
25 TRPM6 NM_017662.4(TRPM6): c.*843G> A single nucleotide variant Uncertain significance rs1057515630 GRCh37 Chromosome 9, 77338686: 77338686
26 TRPM6 NM_017662.4(TRPM6): c.*843G> A single nucleotide variant Uncertain significance rs1057515630 GRCh38 Chromosome 9, 74723770: 74723770
27 TRPM6 NM_017662.4(TRPM6): c.*804_*805delAT deletion Benign rs143924458 GRCh37 Chromosome 9, 77338724: 77338725
28 TRPM6 NM_017662.4(TRPM6): c.*804_*805delAT deletion Benign rs143924458 GRCh38 Chromosome 9, 74723808: 74723809
29 TRPM6 NM_017662.4(TRPM6): c.*802A> T single nucleotide variant Uncertain significance rs545113884 GRCh37 Chromosome 9, 77338727: 77338727
30 TRPM6 NM_017662.4(TRPM6): c.*802A> T single nucleotide variant Uncertain significance rs545113884 GRCh38 Chromosome 9, 74723811: 74723811
31 TRPM6 NM_017662.4(TRPM6): c.*156A> G single nucleotide variant Uncertain significance rs141484675 GRCh37 Chromosome 9, 77339373: 77339373
32 TRPM6 NM_017662.4(TRPM6): c.*156A> G single nucleotide variant Uncertain significance rs141484675 GRCh38 Chromosome 9, 74724457: 74724457
33 TRPM6 NM_017662.4(TRPM6): c.*108C> T single nucleotide variant Uncertain significance rs530527539 GRCh37 Chromosome 9, 77339421: 77339421
34 TRPM6 NM_017662.4(TRPM6): c.*108C> T single nucleotide variant Uncertain significance rs530527539 GRCh38 Chromosome 9, 74724505: 74724505
35 TRPM6 NM_017662.4(TRPM6): c.5360G> T (p.Ser1787Ile) single nucleotide variant Uncertain significance rs1057515638 GRCh37 Chromosome 9, 77354766: 77354766
36 TRPM6 NM_017662.4(TRPM6): c.5360G> T (p.Ser1787Ile) single nucleotide variant Uncertain significance rs1057515638 GRCh38 Chromosome 9, 74739850: 74739850
37 TRPM6 NM_017662.4(TRPM6): c.5171C> T (p.Thr1724Ile) single nucleotide variant Uncertain significance rs56290308 GRCh37 Chromosome 9, 77357506: 77357506
38 TRPM6 NM_017662.4(TRPM6): c.5171C> T (p.Thr1724Ile) single nucleotide variant Uncertain significance rs56290308 GRCh38 Chromosome 9, 74742590: 74742590
39 TRPM6 NM_017662.4(TRPM6): c.4750A> G (p.Lys1584Glu) single nucleotide variant Benign rs2274924 GRCh37 Chromosome 9, 77376647: 77376647
40 TRPM6 NM_017662.4(TRPM6): c.4750A> G (p.Lys1584Glu) single nucleotide variant Benign rs2274924 GRCh38 Chromosome 9, 74761731: 74761731
41 TRPM6 NM_017662.4(TRPM6): c.4707A> T (p.Ala1569=) single nucleotide variant Uncertain significance rs34550263 GRCh37 Chromosome 9, 77376690: 77376690
42 TRPM6 NM_017662.4(TRPM6): c.4707A> T (p.Ala1569=) single nucleotide variant Uncertain significance rs34550263 GRCh38 Chromosome 9, 74761774: 74761774
43 TRPM6 NM_017662.4(TRPM6): c.4177G> A (p.Val1393Ile) single nucleotide variant Benign rs3750425 GRCh37 Chromosome 9, 77377410: 77377410
44 TRPM6 NM_017662.4(TRPM6): c.4177G> A (p.Val1393Ile) single nucleotide variant Benign rs3750425 GRCh38 Chromosome 9, 74762494: 74762494
45 TRPM6 NM_017662.4(TRPM6): c.3821A> G (p.Gln1274Arg) single nucleotide variant Uncertain significance rs34608911 GRCh37 Chromosome 9, 77377766: 77377766
46 TRPM6 NM_017662.4(TRPM6): c.3821A> G (p.Gln1274Arg) single nucleotide variant Uncertain significance rs34608911 GRCh38 Chromosome 9, 74762850: 74762850
47 TRPM6 NM_017662.4(TRPM6): c.3798G> A (p.Glu1266=) single nucleotide variant Uncertain significance rs148075951 GRCh37 Chromosome 9, 77377789: 77377789
48 TRPM6 NM_017662.4(TRPM6): c.3798G> A (p.Glu1266=) single nucleotide variant Uncertain significance rs148075951 GRCh38 Chromosome 9, 74762873: 74762873
49 TRPM6 NM_017662.4(TRPM6): c.2786G> T (p.Trp929Leu) single nucleotide variant Uncertain significance rs1057515639 GRCh37 Chromosome 9, 77400923: 77400923
50 TRPM6 NM_017662.4(TRPM6): c.2786G> T (p.Trp929Leu) single nucleotide variant Uncertain significance rs1057515639 GRCh38 Chromosome 9, 74786007: 74786007

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 11.39 CLDN16 CLDN19
2 11.11 CLDN16 CLDN19
3 10.74 CLDN16 CLDN19

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 bicellular tight junction GO:0005923 8.62 CLDN16 CLDN19

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

# Name GO ID Score Top Affiliating Genes
1 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 8.62 CLDN16 CLDN19

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.62 CLDN16 CLDN19

Sources for Hypomagnesemia 1, Intestinal

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74 UMLS via Orphanet
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