MCID: HYP550
MIFTS: 38

Hypomagnesemia 1, Intestinal

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

Aliases & Classifications for Hypomagnesemia 1, Intestinal

MalaCards integrated aliases for Hypomagnesemia 1, Intestinal:

Name: Hypomagnesemia 1, Intestinal 53 28 13 69
Intestinal Hypomagnesemia with Secondary Hypocalcemia 12 49 24 55 71
Hypomagnesemic Tetany 53 12 49 24 71
Homg1 53 12 49 55 71
Hsh 53 49 24 55 71
Intestinal Hypomagnesemia 1 12 24 71 14
Hypomagnesemia Caused by Selective Magnesium Malabsorption 12 49 55
Primary Hypomagnesemia with Secondary Hypocalcemia 12 49 55
Hypomagnesemia with Secondary Hypocalcemia 53 24 71
Hypomagnesemia Intestinal Type 1 12 49 55
Homg 53 24 71
Phsh 49 55
Hypomagnesemia, Intestinal, with Secondary Hypocalcemia 53
Familial Primary Hypomagnesemia with Hypocalcuria 24
Hypomagnesemia with Secondary Hypocalcemia; Hsh 53
Hypomagnesmic Tetany 69
Hypomagnesemia 1 71

Characteristics:

Orphanet epidemiological data:

55
primary hypomagnesemia with secondary hypocalcemia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

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


Classifications:



External Ids:

OMIM 53 602014
Disease Ontology 12 DOID:0060883
ICD10 32 E83.4
Orphanet 55 ORPHA30924
UMLS via Orphanet 70 C1865974
ICD10 via Orphanet 33 E83.4
MeSH 41 D008286

Summaries for Hypomagnesemia 1, Intestinal

NIH Rare Diseases : 49 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 primary hypomagnesemia and hypomagnesemia 3, renal, and has symptoms including seizures, tetany and hypocalcemia. 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 phenotype is homeostasis/metabolism.

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 : 24 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 : 53 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 : 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.

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:

# Related Disease Score Top Affiliating Genes
1 primary hypomagnesemia 29.4 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 9.7 CLDN16 PTH
5 chronic kidney failure 9.5 CLDN16 PTH
6 nephrocalcinosis 9.4 CLDN16 CLDN19
7 mineral metabolism disease 9.4 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 tetany 31 HP:0001281
3 hypocalcemia 31 HP:0002901
4 hypomagnesemia 31 HP:0002917

UMLS symptoms related to Hypomagnesemia 1, Intestinal:


spasm, seizures

MGI Mouse Phenotypes related to Hypomagnesemia 1, Intestinal:

43
# 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 28 TRPM6

Anatomical Context for Hypomagnesemia 1, Intestinal

MalaCards organs/tissues related to Hypomagnesemia 1, Intestinal:

38
Skin, Kidney, Heart

Publications for Hypomagnesemia 1, Intestinal

Articles related to Hypomagnesemia 1, Intestinal:

# Title Authors Year
1
Genetic background of HSH in three Polish families and a patient with an X;9 translocation. ( 16267500 )
2006
2
Primary hypomagnesemia with secondary hypocalcemia in an infant. ( 11910142 )
2002
3
Primary hypomagnesemia with secondary hypocalcemia. Report of a case and review of the world literature. ( 2995735 )
1985
4
Primary hypomagnesemia with secondary hypocalcemia, diarrhea and insensitivity to parathyroid hormone. ( 5032685 )
1972
5
Primary hypomagnesemia with secondary hypocalcemia in an infant. ( 5637791 )
1968

Variations for Hypomagnesemia 1, Intestinal

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

71
# 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)
# 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 GRCh37 Chromosome 9, 77407583: 77407583
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:

# 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:

# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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