HOMGSMR2
MCID: HYP834
MIFTS: 19

Hypomagnesemia, Seizures, and Mental Retardation 2 (HOMGSMR2)

Categories: Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Hypomagnesemia, Seizures, and Mental Retardation 2

MalaCards integrated aliases for Hypomagnesemia, Seizures, and Mental Retardation 2:

Name: Hypomagnesemia, Seizures, and Mental Retardation 2 57 74 29 6
Homgsmr2 57 74
Hypomagnesemia, Seizures, and Mental Retardation Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
persistent seizure activity despite amelioration of magnesium levels


HPO:

32
hypomagnesemia, seizures, and mental retardation 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MedGen 42 CN258187

Summaries for Hypomagnesemia, Seizures, and Mental Retardation 2

OMIM : 57 HOMGSMR2 is characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation, and are associated with significantly impaired intellectual development (Schlingmann et al., 2018). For a discussion of genetic heterogeneity of HOMGSMR, see 616418. (618314)

MalaCards based summary : Hypomagnesemia, Seizures, and Mental Retardation 2, is also known as homgsmr2. An important gene associated with Hypomagnesemia, Seizures, and Mental Retardation 2 is ATP1A1 (ATPase Na+/K+ Transporting Subunit Alpha 1). Related phenotypes are global developmental delay and hyperactivity

UniProtKB/Swiss-Prot : 74 Hypomagnesemia, seizures, and mental retardation 2: An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability.

Related Diseases for Hypomagnesemia, Seizures, and Mental Retardation 2

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

Hypomagnesemia, Seizures, and Mental Retardation 2

Symptoms & Phenotypes for Hypomagnesemia, Seizures, and Mental Retardation 2

Human phenotypes related to Hypomagnesemia, Seizures, and Mental Retardation 2:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 hyperactivity 32 HP:0000752
3 ventriculomegaly 32 HP:0002119
4 generalized-onset seizure 32 HP:0002197
5 status epilepticus 32 HP:0002133
6 hypomagnesemia 32 HP:0002917
7 renal potassium wasting 32 HP:0000128
8 self-biting 32 HP:0012169
9 polyuria 32 HP:0000103
10 renal magnesium wasting 32 HP:0005567

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
global developmental delay
dilated ventricles
generalized seizures
incomplete myelination
status epilepticus, recurrent
more
Laboratory Abnormalities:
hypomagnesemia
hypokalemia, intermittent

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
self-biting
autism or autism spectrum disorder

Genitourinary Kidneys:
renal potassium wasting
polyuria
renal magnesium wasting, severe intractable
medullary hyperechogenicity

Clinical features from OMIM:

618314

Drugs & Therapeutics for Hypomagnesemia, Seizures, and Mental Retardation 2

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia, Seizures, and Mental Retardation 2

Genetic Tests for Hypomagnesemia, Seizures, and Mental Retardation 2

Genetic tests related to Hypomagnesemia, Seizures, and Mental Retardation 2:

# Genetic test Affiliating Genes
1 Hypomagnesemia, Seizures, and Mental Retardation 2 29 ATP1A1

Anatomical Context for Hypomagnesemia, Seizures, and Mental Retardation 2

Publications for Hypomagnesemia, Seizures, and Mental Retardation 2

Articles related to Hypomagnesemia, Seizures, and Mental Retardation 2:

# Title Authors PMID Year
1
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. 8 71
30388404 2018

Variations for Hypomagnesemia, Seizures, and Mental Retardation 2

ClinVar genetic disease variations for Hypomagnesemia, Seizures, and Mental Retardation 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A1 NM_000701.8(ATP1A1): c.905T> C (p.Leu302Pro) single nucleotide variant Pathogenic 1:116932211-116932211 1:116389589-116389589
2 ATP1A1 NM_000701.8(ATP1A1): c.907G> C (p.Gly303Arg) single nucleotide variant Pathogenic 1:116932213-116932213 1:116389591-116389591
3 ATP1A1 NM_000701.8(ATP1A1): c.2576T> G (p.Met859Arg) single nucleotide variant Pathogenic 1:116943486-116943486 1:116400864-116400864

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia, Seizures, and Mental Retardation 2:

74
# Symbol AA change Variation ID SNP ID
1 ATP1A1 p.Leu302Arg VAR_081937
2 ATP1A1 p.Gly303Arg VAR_081938
3 ATP1A1 p.Met859Arg VAR_081939

Expression for Hypomagnesemia, Seizures, and Mental Retardation 2

Search GEO for disease gene expression data for Hypomagnesemia, Seizures, and Mental Retardation 2.

Pathways for Hypomagnesemia, Seizures, and Mental Retardation 2

GO Terms for Hypomagnesemia, Seizures, and Mental Retardation 2

Sources for Hypomagnesemia, Seizures, and Mental Retardation 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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