MCID: HYP445
MIFTS: 19

Hypomagnesemia 6, Renal

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

Aliases & Classifications for Hypomagnesemia 6, Renal

MalaCards integrated aliases for Hypomagnesemia 6, Renal:

Name: Hypomagnesemia 6, Renal 57 29 13 6 73
Homg6 57 12 75
Hypomagnesemia, Type 6, Renal 40
Renal Hypomagnesemia 6 12
Renal Hypomagnesemia-6 53
Hypomagnesemia 6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hypomagnesemia 6, renal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613882
Disease Ontology 12 DOID:0060884
ICD10 33 E83.4
MedGen 42 C3151295
MeSH 44 D015499
UMLS 73 C3151295

Summaries for Hypomagnesemia 6, Renal

UniProtKB/Swiss-Prot : 75 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 headache, vertigo and muscle weakness. 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
defect in renal tubular reabsorption of mg(2+)

Neurologic Central Nervous System:
headaches
vertigo

Muscle Soft Tissue:
muscle weakness

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


Clinical features from OMIM:

613882

Human phenotypes related to Hypomagnesemia 6, Renal:

32
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 vertigo 32 HP:0002321
3 headache 32 HP:0002315
4 hypomagnesemia 32 HP:0002917

UMLS symptoms related to Hypomagnesemia 6, Renal:


headache, vertigo, muscle weakness

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 29 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:

75
# 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 CNNM2, 1-BP DEL, 117G 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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