HOMGSMR2
MCID: HYP834
MIFTS: 22

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 56 73 29 6
Homgsmr2 56 73
Hypomagnesemia, Seizures, and Mental Retardation Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
persistent seizure activity despite amelioration of magnesium levels


HPO:

31
hypomagnesemia, seizures, and mental retardation 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypomagnesemia, Seizures, and Mental Retardation 2

OMIM : 56 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, also known as homgsmr2, is related to charcot-marie-tooth disease, axonal, type 2dd and charcot-marie-tooth disease. 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 hypokalemia

UniProtKB/Swiss-Prot : 73 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 2 family:

Hypomagnesemia, Seizures, and Mental Retardation 1

Diseases related to Hypomagnesemia, Seizures, and Mental Retardation 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2dd 9.4 ATP1A1-AS1 ATP1A1
2 charcot-marie-tooth disease 9.2 ATP1A1-AS1 ATP1A1

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

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

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hypokalemia 31 HP:0002900
3 hyperactivity 31 HP:0000752
4 ventriculomegaly 31 HP:0002119
5 generalized-onset seizure 31 HP:0002197
6 status epilepticus 31 HP:0002133
7 hypomagnesemia 31 HP:0002917
8 renal potassium wasting 31 HP:0000128
9 self-biting 31 HP:0012169
10 polyuria 31 HP:0000103
11 renal magnesium wasting 31 HP:0005567

Symptoms via clinical synopsis from OMIM:

56
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:

(showing 1, show less)
# Title Authors PMID Year
1
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. 56 6
30388404 2018

Variations for Hypomagnesemia, Seizures, and Mental Retardation 2

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

6 (showing 4, show less) ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP1A1 NM_000701.8(ATP1A1):c.905T>C (p.Leu302Pro)SNV Pathogenic 617641 rs1557785499 1:116932211-116932211 1:116389589-116389589
2 ATP1A1 NM_000701.8(ATP1A1):c.907G>C (p.Gly303Arg)SNV Pathogenic 617642 rs1557785503 1:116932213-116932213 1:116389591-116389591
3 ATP1A1 NM_000701.8(ATP1A1):c.2576T>G (p.Met859Arg)SNV Pathogenic 617643 rs781629728 1:116943486-116943486 1:116400864-116400864
4 ATP1A1 NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg)SNV Pathogenic 619298 1:116943824-116943824 1:116401202-116401202

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

73 (showing 3, show less)
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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