HOMGSMR2
MCID: HYP834
MIFTS: 16

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 58 76 6
Homgsmr2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
persistent seizure activity despite amelioration of magnesium levels


Classifications:



Summaries for Hypomagnesemia, Seizures, and Mental Retardation 2

OMIM : 58 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 ventriculomegaly

UniProtKB/Swiss-Prot : 76 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:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 ventriculomegaly 33 HP:0002119
3 status epilepticus 33 HP:0002133
4 hyperactivity 33 HP:0000752
5 hypomagnesemia 33 HP:0002917
6 renal potassium wasting 33 HP:0000128
7 self-biting 33 HP:0012169
8 polyuria 33 HP:0000103
9 renal magnesium wasting 33 HP:0005567
10 generalized-onset seizure 33 HP:0002197

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
generalized seizures
dilated ventricles
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

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 Year
1
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. ( 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 Assembly Location
1 ATP1A1 NM_000701.8(ATP1A1): c.905T> C (p.Leu302Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 116932211: 116932211
2 ATP1A1 NM_000701.8(ATP1A1): c.905T> C (p.Leu302Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 116389589: 116389589
3 ATP1A1 NM_000701.8(ATP1A1): c.907G> C (p.Gly303Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 116932213: 116932213
4 ATP1A1 NM_000701.8(ATP1A1): c.907G> C (p.Gly303Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 116389591: 116389591
5 ATP1A1 NM_000701.8(ATP1A1): c.2576T> G (p.Met859Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 116943486: 116943486
6 ATP1A1 NM_000701.8(ATP1A1): c.2576T> G (p.Met859Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 116400864: 116400864

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
20 FMA
29 GO
30 GTR
31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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47 MGI
50 NCI
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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
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