HOMG6
MCID: HYP445
MIFTS: 19

Hypomagnesemia 6, Renal (HOMG6)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypomagnesemia 6, Renal

MalaCards integrated aliases for Hypomagnesemia 6, Renal:

Name: Hypomagnesemia 6, Renal 58 30 13 6 74
Homg6 58 12 76
Hypomagnesemia, Type 6, Renal 41
Renal Hypomagnesemia 6 12
Renal Hypomagnesemia-6 54
Hypomagnesemia 6 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable presentation of clinical features
some people with a cnnm2 mutation are asymptomatic


HPO:

33
hypomagnesemia 6, renal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060884
OMIM 58 613882
MeSH 45 D015499
ICD10 34 E83.4
MedGen 43 C3151295
UMLS 74 C3151295

Summaries for Hypomagnesemia 6, Renal

UniProtKB/Swiss-Prot : 76 Hypomagnesemia 6: A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic.

MalaCards based summary : Hypomagnesemia 6, Renal, is also known as homg6, and has symptoms including muscle weakness, vertigo and headache. An important gene associated with Hypomagnesemia 6, Renal is CNNM2 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2). Related phenotypes are muscle weakness and vertigo

Disease Ontology : 12 A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material basis in heterozygous mutation in the CNNM2 gene on chromosome 10q24.

Description from OMIM: 613882

Related Diseases for Hypomagnesemia 6, Renal

Diseases in the Hypomagnesemia 2, Renal family:

Hypomagnesemia 3, Renal Hypomagnesemia 4, Renal
Hypomagnesemia 6, Renal

Symptoms & Phenotypes for Hypomagnesemia 6, Renal

Human phenotypes related to Hypomagnesemia 6, Renal:

33
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 vertigo 33 HP:0002321
3 headache 33 HP:0002315
4 hypomagnesemia 33 HP:0002917

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness

Genitourinary Kidneys:
defect in renal tubular reabsorption of mg(2+)

Neurologic Central Nervous System:
vertigo
headaches

Laboratory Abnormalities:
low levels of serum mg(2+) in the absence of other electrolyte disturbances

Clinical features from OMIM:

613882

UMLS symptoms related to Hypomagnesemia 6, Renal:


muscle weakness, vertigo, headache

Drugs & Therapeutics for Hypomagnesemia 6, Renal

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia 6, Renal

Genetic Tests for Hypomagnesemia 6, Renal

Genetic tests related to Hypomagnesemia 6, Renal:

# Genetic test Affiliating Genes
1 Hypomagnesemia 6, Renal 30 CNNM2

Anatomical Context for Hypomagnesemia 6, Renal

Publications for Hypomagnesemia 6, Renal

Variations for Hypomagnesemia 6, Renal

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 6, Renal:

76
# Symbol AA change Variation ID SNP ID
1 CNNM2 p.Thr568Ile VAR_065260 rs387906975

ClinVar genetic disease variations for Hypomagnesemia 6, Renal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNNM2 NM_017649.4: c.117delG deletion Pathogenic
2 CNNM2 NM_017649.4(CNNM2): c.1703C> T (p.Thr568Ile) single nucleotide variant Pathogenic rs387906975 GRCh37 Chromosome 10, 104809545: 104809545
3 CNNM2 NM_017649.4(CNNM2): c.1703C> T (p.Thr568Ile) single nucleotide variant Pathogenic rs387906975 GRCh38 Chromosome 10, 103049788: 103049788

Expression for Hypomagnesemia 6, Renal

Search GEO for disease gene expression data for Hypomagnesemia 6, Renal.

Pathways for Hypomagnesemia 6, Renal

GO Terms for Hypomagnesemia 6, Renal

Sources for Hypomagnesemia 6, Renal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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