HOMGSMR1
MCID: HYP830
MIFTS: 22

Hypomagnesemia, Seizures, and Mental Retardation 1 (HOMGSMR1)

Categories: Genetic diseases, Mental diseases, Nephrological 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 57 72 29 6
Hypomagnesemia, Seizures, and Mental Retardation 57 39
Homgsmr1 57 72
Homgsmr 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
hypomagnesemia, seizures, and mental retardation 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypomagnesemia, Seizures, and Mental Retardation 1

OMIM® : 57 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) (Updated 20-May-2021)

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). Affiliated tissues include brain, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 72 Hypomagnesemia, seizures, and mental retardation 1: 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 2 family:

Hypomagnesemia, Seizures, and Mental Retardation 1

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 11.0

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 absent speech 31 HP:0001344
5 hypomagnesemia 31 HP:0002917
6 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 1 29 CNNM2

Anatomical Context for Hypomagnesemia, Seizures, and Mental Retardation 1

MalaCards organs/tissues related to Hypomagnesemia, Seizures, and Mental Retardation 1:

40
Brain

Publications for Hypomagnesemia, Seizures, and Mental Retardation 1

Articles related to Hypomagnesemia, Seizures, and Mental Retardation 1:

# Title Authors PMID Year
1
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. 6 57
24699222 2014

Variations for Hypomagnesemia, Seizures, and Mental Retardation 1

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

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNNM2 NM_017649.5(CNNM2):c.143T>C (p.Leu48Pro) SNV Pathogenic 996041 GRCh37: 10:104678380-104678380
GRCh38: 10:102918623-102918623
2 CNNM2 NM_017649.5(CNNM2):c.942C>G (p.Tyr314Ter) SNV Pathogenic 996042 GRCh37: 10:104679179-104679179
GRCh38: 10:102919422-102919422
3 CNNM2 NM_017649.5(CNNM2):c.955CTG[2] (p.Leu321del) Microsatellite Pathogenic 996043 GRCh37: 10:104679192-104679194
GRCh38: 10:102919435-102919437
4 CNNM2 NM_017649.5(CNNM2):c.970G>A (p.Val324Met) SNV Pathogenic 996044 GRCh37: 10:104679207-104679207
GRCh38: 10:102919450-102919450
5 CNNM2 NM_017649.5(CNNM2):c.1253T>C (p.Leu418Pro) SNV Pathogenic 996045 GRCh37: 10:104679490-104679490
GRCh38: 10:102919733-102919733
6 CNNM2 NC_000010.10:g.(?_104678237)_(104816721_?)del Deletion Pathogenic 996052 GRCh37: 10:104678237-104816721
GRCh38:
7 CNNM2 NM_017649.5(CNNM2):c.1842_1844del (p.Ser614_Glu615delinsArg) Deletion Pathogenic 996053 GRCh37: 10:104814162-104814164
GRCh38: 10:103054405-103054407
8 CNNM2 NM_017649.5(CNNM2):c.2384C>T (p.Ser795Leu) SNV Pathogenic 996054 GRCh37: 10:104835993-104835993
GRCh38: 10:103076236-103076236
9 CNNM2 NM_017649.5(CNNM2):c.2389C>T (p.Arg797Ter) SNV Pathogenic 996055 GRCh37: 10:104835998-104835998
GRCh38: 10:103076241-103076241
10 CNNM2 NM_017649.5(CNNM2):c.364G>A (p.Glu122Lys) SNV Pathogenic 192323 rs786205909 GRCh37: 10:104678601-104678601
GRCh38: 10:102918844-102918844
11 CNNM2 NM_017649.5(CNNM2):c.1069G>A (p.Glu357Lys) SNV Pathogenic 192324 rs786205910 GRCh37: 10:104679306-104679306
GRCh38: 10:102919549-102919549
12 CNNM2 NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) SNV Likely pathogenic 192325 rs794726858 GRCh37: 10:104679043-104679043
GRCh38: 10:102919286-102919286
13 CNNM2 NM_017649.5(CNNM2):c.1621+7270T>C SNV Uncertain significance 1030420 GRCh37: 10:104687128-104687128
GRCh38: 10:102927371-102927371
14 CNNM2 NM_017649.5(CNNM2):c.1016G>A (p.Gly339Asp) SNV Uncertain significance 996056 GRCh37: 10:104679253-104679253
GRCh38: 10:102919496-102919496
15 CNNM2 NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser) SNV Likely benign 802633 rs988049940 GRCh37: 10:104835849-104835849
GRCh38: 10:103076092-103076092
16 CNNM2 NM_017649.5(CNNM2):c.1094C>T (p.Ser365Phe) SNV Benign 996057 GRCh37: 10:104679331-104679331
GRCh38: 10:102919574-102919574

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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