HOMGSMR
MCID: HYP830
MIFTS: 19

Hypomagnesemia, Seizures, and Mental Retardation 1 (HOMGSMR)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Hypomagnesemia, Seizures, and Mental Retardation 1

MalaCards integrated aliases for Hypomagnesemia, Seizures, and Mental Retardation 1:

Name: Hypomagnesemia, Seizures, and Mental Retardation 1 58
Hypomagnesemia, Seizures, and Mental Retardation 58 76 30 6 41
Homgsmr 58 76
Homgsmr1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
autosomal recessive (1 family)

Miscellaneous:
onset in the first year of life
de novo mutation in heterozygotes
seizures may be refractory to treatment
one consanguineous family with a recessive mutation has been reported (last curated june 2015)
patients with recessive mutations have a more severe phenotype


HPO:

33
hypomagnesemia, seizures, and mental retardation 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypomagnesemia, Seizures, and Mental Retardation 1

OMIM : 58 HOMGSMR1 is characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development (summary by Arjona et al., 2014). (616418)

MalaCards based summary : Hypomagnesemia, Seizures, and Mental Retardation 1, also known as hypomagnesemia, seizures, and mental retardation, is related to hypomagnesemia, seizures, and mental retardation 2. An important gene associated with Hypomagnesemia, Seizures, and Mental Retardation 1 is CNNM2 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2). Related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 76 Hypomagnesemia, seizures, and mental retardation: A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development.

Related Diseases for Hypomagnesemia, Seizures, and Mental Retardation 1

Diseases in the Hypomagnesemia, Seizures, and Mental Retardation 1 family:

Hypomagnesemia, Seizures, and Mental Retardation 2

Diseases related to Hypomagnesemia, Seizures, and Mental Retardation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypomagnesemia, seizures, and mental retardation 2 11.2

Symptoms & Phenotypes for Hypomagnesemia, Seizures, and Mental Retardation 1

Human phenotypes related to Hypomagnesemia, Seizures, and Mental Retardation 1:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 global developmental delay 33 HP:0001263
4 microcephaly 33 HP:0000252
5 absent speech 33 HP:0001344
6 hypomagnesemia 33 HP:0002917

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
mental retardation
delayed psychomotor development
poor or absent speech
reduced myelination (1 patient)
more
Head And Neck Head:
microcephaly (1 family)

Laboratory Abnormalities:
low serum magnesium

Genitourinary Kidneys:
urinary magnesium wasting

Clinical features from OMIM:

616418

Drugs & Therapeutics for Hypomagnesemia, Seizures, and Mental Retardation 1

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia, Seizures, and Mental Retardation 1

Genetic Tests for Hypomagnesemia, Seizures, and Mental Retardation 1

Genetic tests related to Hypomagnesemia, Seizures, and Mental Retardation 1:

# Genetic test Affiliating Genes
1 Hypomagnesemia, Seizures, and Mental Retardation 30 CNNM2

Anatomical Context for Hypomagnesemia, Seizures, and Mental Retardation 1

Publications for Hypomagnesemia, Seizures, and Mental Retardation 1

Variations for Hypomagnesemia, Seizures, and Mental Retardation 1

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia, Seizures, and Mental Retardation 1:

76
# Symbol AA change Variation ID SNP ID
1 CNNM2 p.Glu122Lys VAR_073848 rs786205909
2 CNNM2 p.Ser269Trp VAR_073849 rs794726858
3 CNNM2 p.Leu330Phe VAR_073850
4 CNNM2 p.Glu357Lys VAR_073851 rs786205910

ClinVar genetic disease variations for Hypomagnesemia, Seizures, and Mental Retardation 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNNM2 NM_017649.4(CNNM2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs786205909 GRCh37 Chromosome 10, 104678601: 104678601
2 CNNM2 NM_017649.4(CNNM2): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs786205909 GRCh38 Chromosome 10, 102918844: 102918844
3 CNNM2 NM_017649.4(CNNM2): c.1069G> A (p.Glu357Lys) single nucleotide variant Pathogenic rs786205910 GRCh37 Chromosome 10, 104679306: 104679306
4 CNNM2 NM_017649.4(CNNM2): c.1069G> A (p.Glu357Lys) single nucleotide variant Pathogenic rs786205910 GRCh38 Chromosome 10, 102919549: 102919549
5 CNNM2 NM_017649.4(CNNM2): c.806C> G (p.Ser269Trp) single nucleotide variant Likely pathogenic rs794726858 GRCh37 Chromosome 10, 104679043: 104679043
6 CNNM2 NM_017649.4(CNNM2): c.806C> G (p.Ser269Trp) single nucleotide variant Likely pathogenic rs794726858 GRCh38 Chromosome 10, 102919286: 102919286

Expression for Hypomagnesemia, Seizures, and Mental Retardation 1

Search GEO for disease gene expression data for Hypomagnesemia, Seizures, and Mental Retardation 1.

Pathways for Hypomagnesemia, Seizures, and Mental Retardation 1

GO Terms for Hypomagnesemia, Seizures, and Mental Retardation 1

Sources for Hypomagnesemia, Seizures, and Mental Retardation 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....