MCID: HYP646
MIFTS: 17

Hypomagnesemia, Seizures, and Mental Retardation

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Hypomagnesemia, Seizures, and Mental Retardation

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

Name: Hypomagnesemia, Seizures, and Mental Retardation 57 75 29 6 40
Homgsmr 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (1 family)

Miscellaneous:
de novo mutation in heterozygotes
onset in the first year of life
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:

32
hypomagnesemia, seizures, and mental retardation:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypomagnesemia, Seizures, and Mental Retardation

OMIM : 57 Hypomagnesemia, seizures, and mental retardation is a disorder 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, is also known as homgsmr. An important gene associated with Hypomagnesemia, Seizures, and Mental Retardation is CNNM2 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2). Related phenotypes are microcephaly and intellectual disability

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Hypomagnesemia, Seizures, and Mental Retardation

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (1 family)

Neurologic Central Nervous System:
delayed psychomotor development
mental retardation
poor or absent speech
seizures
reduced myelination (1 patient)
more
Genitourinary Kidneys:
urinary magnesium wasting

Laboratory Abnormalities:
low serum magnesium


Clinical features from OMIM:

616418

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

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 hypomagnesemia 32 HP:0002917

Drugs & Therapeutics for Hypomagnesemia, Seizures, and Mental Retardation

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

Genetic Tests for Hypomagnesemia, Seizures, and Mental Retardation

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

# Genetic test Affiliating Genes
1 Hypomagnesemia, Seizures, and Mental Retardation 29 CNNM2

Anatomical Context for Hypomagnesemia, Seizures, and Mental Retardation

Publications for Hypomagnesemia, Seizures, and Mental Retardation

Variations for Hypomagnesemia, Seizures, and Mental Retardation

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

75
# 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:

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 Pathogenic rs794726858 GRCh37 Chromosome 10, 104679043: 104679043
6 CNNM2 NM_017649.4(CNNM2): c.806C> G (p.Ser269Trp) single nucleotide variant Pathogenic rs794726858 GRCh38 Chromosome 10, 102919286: 102919286

Expression for Hypomagnesemia, Seizures, and Mental Retardation

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

Pathways for Hypomagnesemia, Seizures, and Mental Retardation

GO Terms for Hypomagnesemia, Seizures, and Mental Retardation

Sources for Hypomagnesemia, Seizures, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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