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 56 29 13 6 71
Homg6 56 12 73
Hypomagnesemia, Type 6, Renal 39
Renal Hypomagnesemia 6 12
Renal Hypomagnesemia-6 52
Hypomagnesemia 6 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
hypomagnesemia 6, renal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060884
OMIM 56 613882
OMIM Phenotypic Series 56 PS602014
MeSH 43 D015499
ICD10 32 E83.4
MedGen 41 C3151295
UMLS 71 C3151295

Summaries for Hypomagnesemia 6, Renal

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 613882 PS602014

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:

31
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 vertigo 31 HP:0002321
3 headache 31 HP:0002315
4 hypomagnesemia 31 HP:0002917

Symptoms via clinical synopsis from OMIM:

56
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 29 CNNM2

Anatomical Context for Hypomagnesemia 6, Renal

Publications for Hypomagnesemia 6, Renal

Articles related to Hypomagnesemia 6, Renal:

# Title Authors PMID Year
1
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. 56 6
21397062 2011

Variations for Hypomagnesemia 6, Renal

ClinVar genetic disease variations for Hypomagnesemia 6, Renal:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNNM2 NM_017649.5(CNNM2):c.117del (p.Ile40fs)deletion Pathogenic 30683 rs1564803221 10:104678350-104678350 10:102918593-102918593
2 CNNM2 NM_017649.5(CNNM2):c.1703C>T (p.Thr568Ile)SNV Pathogenic 30684 rs387906975 10:104809545-104809545 10:103049788-103049788

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

73
# Symbol AA change Variation ID SNP ID
1 CNNM2 p.Thr568Ile VAR_065260 rs387906975

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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