MCID: HYP550
MIFTS: 38

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 54 29 13 69
Intestinal Hypomagnesemia with Secondary Hypocalcemia 12 50 25 56 71
Intestinal Hypomagnesemia 1 12 25 71 14
Hypomagnesemic Tetany 12 50 25 71
Homg1 12 50 56 71
Hsh 50 25 56 71
Hypomagnesemia Caused by Selective Magnesium Malabsorption 12 50 56
Primary Hypomagnesemia with Secondary Hypocalcemia 12 50 56
Hypomagnesemia with Secondary Hypocalcemia 24 25 71
Hypomagnesemia Intestinal Type 1 12 50 56
Homg 25 71
Phsh 50 56
Familial Primary Hypomagnesemia with Hypocalcuria 25
Hypomagnesmic Tetany 69
Hypomagnesemia 1 71

Characteristics:

Orphanet epidemiological data:

56
primary hypomagnesemia with secondary hypocalcemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

54
Miscellaneous:
onset in infancy

Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 54 602014
Disease Ontology 12 DOID:0060883
ICD10 33 E83.4
Orphanet 56 ORPHA30924
UMLS via Orphanet 70 C1865974
ICD10 via Orphanet 34 E83.4
MeSH 42 D008286

Summaries for Hypomagnesemia 1, Intestinal

NIH Rare Diseases : 50 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. last updated: 7/20/2016

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 hypomagnesemia, seizures and tetany. 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). The drugs Inulin and Proton pump inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and skin, and related phenotype is homeostasis/metabolism.

UniProtKB/Swiss-Prot : 71 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.

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 : 54
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)

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.

Wikipedia : 72 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:

id Related Disease Score Top Affiliating Genes
1 hypomagnesemia 3, renal 10.9
2 primary hypomagnesemia 10.8
3 left-right axis malformations 9.9 MGAM TRPM6
4 chronic myelomonocytic leukemia 9.5 CLDN16 PTH
5 charcot-marie-tooth disease, type 4k 9.4 CLDN16 PTH
6 mixed receptive-expressive language disorder 9.4 CLDN16 CLDN19
7 astrakhan spotted fever 9.0 CLDN16 MGAM PTH
8 tangier disease 8.0 CLDN16 CLDN19 MGAM PTH TRPM6
9 prune belly syndome 8.0 CLDN16 CLDN19 MGAM PTH TRPM6

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:

54

Laboratory- Abnormalities:
hypocalcemia
hypomagnesemia

Muscle Soft Tissue:
tetany
muscle spasm

Neurologic- Central Nervous System:
seizures


Clinical features from OMIM:

602014

Human phenotypes related to Hypomagnesemia 1, Intestinal:

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

UMLS symptoms related to Hypomagnesemia 1, Intestinal:


seizures, spasm

MGI Mouse Phenotypes related to Hypomagnesemia 1, Intestinal:

44
id 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

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Inulin Approved, Nutraceutical 9005-80-5 24763
2
Proton pump inhibitors

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Prevalence and Intervention of Hypomagnesemia in Users of Proton-pump Inhibitors Completed NCT02518659

Search NIH Clinical Center for Hypomagnesemia 1, Intestinal

Genetic Tests for Hypomagnesemia 1, Intestinal

Genetic tests related to Hypomagnesemia 1, Intestinal:

id Genetic test Affiliating Genes
1 Hypomagnesemia 1, Intestinal 29
2 Hypomagnesemia with Secondary Hypocalcemia 24 TRPM6

Anatomical Context for Hypomagnesemia 1, Intestinal

MalaCards organs/tissues related to Hypomagnesemia 1, Intestinal:

39
Heart, Kidney, Skin

Publications for Hypomagnesemia 1, Intestinal

Variations for Hypomagnesemia 1, Intestinal

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

71
id 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 all 14)
id 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 TRPM6, 1-BP DEL, 1280A deletion Pathogenic
3 TRPM6 TRPM6, 13-BP DEL, NT3779 deletion Pathogenic
4 TRPM6 TRPM6, 1-BP DEL, 2207G deletion Pathogenic
5 TRPM6 TRPM6, IVS16DS, G-A, +1 single nucleotide variant Pathogenic
6 TRPM6 NM_017662.4(TRPM6): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs121912623 GRCh37 Chromosome 9, 77427238: 77427238
7 TRPM6 NM_017662.4(TRPM6): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs121912624 GRCh37 Chromosome 9, 77457246: 77457246
8 TRPM6 TRPM6, IVS8DS, G-C, +5 single nucleotide variant Pathogenic
9 TRPM6 TRPM6, IVS23AS, A-G, -68 single nucleotide variant Pathogenic
10 TRPM6 NM_017662.4(TRPM6): c.422C> T (p.Ser141Leu) single nucleotide variant Pathogenic rs121912625 GRCh37 Chromosome 9, 77455062: 77455062
11 TRPM6 NM_017662.4(TRPM6): c.3173A> G (p.Tyr1058Cys) single nucleotide variant Pathogenic rs797045204 GRCh37 Chromosome 9, 77397314: 77397314
12 TRPM6 NM_017662.4(TRPM6): c.2667+1G> A single nucleotide variant Pathogenic rs869025214 GRCh38 Chromosome 9, 74788613: 74788613
13 TRPM6 NM_017662.4(TRPM6): c.2495A> G (p.Tyr832Cys) single nucleotide variant Likely pathogenic rs1060499646 GRCh38 Chromosome 9, 74792667: 74792667
14 TRPM6 NM_017662.4(TRPM6): c.3357C> A (p.Cys1119Ter) single nucleotide variant Pathogenic rs1114167360 GRCh38 Chromosome 9, 74775929: 74775929

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:

id Super pathways Score Top Affiliating Genes
1 11.39 CLDN16 CLDN19
2 11.12 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:

id 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:

id 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:

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

Sources for Hypomagnesemia 1, Intestinal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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