HOMG6
MCID: HYP445
MIFTS: 22

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 3, Renal family:

Hypomagnesemia 2, 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. 6 56
21397062 2011

Variations for Hypomagnesemia 6, Renal

ClinVar genetic disease variations for Hypomagnesemia 6, Renal:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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
3 CNNM2 NM_017649.5(CNNM2):c.849C>T (p.Asp283=)SNV Uncertain significance 878025 10:104679086-104679086 10:102919329-102919329
4 CNNM2 NM_017649.5(CNNM2):c.*606G>CSNV Uncertain significance 878079 10:104837543-104837543 10:103077786-103077786
5 CNNM2 NM_017649.5(CNNM2):c.*811A>GSNV Uncertain significance 298662 rs886046676 10:104837748-104837748 10:103077991-103077991
6 CNNM2 NM_017649.5(CNNM2):c.*834C>TSNV Uncertain significance 298663 rs886046677 10:104837771-104837771 10:103078014-103078014
7 CNNM2 NM_017649.5(CNNM2):c.49C>G (p.Gln17Glu)SNV Uncertain significance 298634 rs886046669 10:104678286-104678286 10:102918529-102918529
8 CNNM2 NM_017649.5(CNNM2):c.1764C>T (p.Tyr588=)SNV Uncertain significance 298644 rs747058788 10:104809606-104809606 10:103049849-103049849
9 CNNM2 NM_017649.5(CNNM2):c.1263C>G (p.Thr421=)SNV Uncertain significance 879489 10:104679500-104679500 10:102919743-102919743
10 CNNM2 NM_017649.5(CNNM2):c.2004C>T (p.Asn668=)SNV Uncertain significance 879848 10:104816652-104816652 10:103056895-103056895
11 CNNM2 NM_017649.5(CNNM2):c.2190C>T (p.Thr730=)SNV Uncertain significance 879849 10:104831553-104831553 10:103071796-103071796
12 CNNM2 NM_017649.5(CNNM2):c.2355G>C (p.Ser785=)SNV Uncertain significance 879850 10:104835964-104835964 10:103076207-103076207
13 CNNM2 NM_017649.5(CNNM2):c.2385G>T (p.Ser795=)SNV Uncertain significance 879851 10:104835994-104835994 10:103076237-103076237
14 CNNM2 NM_017649.5(CNNM2):c.2400G>A (p.Ser800=)SNV Uncertain significance 877907 10:104836009-104836009 10:103076252-103076252
15 CNNM2 NM_017649.5(CNNM2):c.2430G>T (p.Gln810His)SNV Uncertain significance 877908 10:104836739-104836739 10:103076982-103076982
16 CNNM2 NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser)SNV Uncertain significance 878022 10:104678533-104678533 10:102918776-102918776
17 CNNM2 NM_017649.5(CNNM2):c.*159G>CSNV Uncertain significance 877910 10:104837096-104837096 10:103077339-103077339
18 CNNM2 NM_017649.5(CNNM2):c.*310C>TSNV Uncertain significance 878076 10:104837247-104837247 10:103077490-103077490
19 CNNM2 NM_017649.5(CNNM2):c.*519G>ASNV Uncertain significance 878077 10:104837456-104837456 10:103077699-103077699
20 CNNM2 NM_017649.5(CNNM2):c.*686T>ASNV Uncertain significance 298659 rs886046674 10:104837623-104837623 10:103077866-103077866
21 CNNM2 NM_017649.5(CNNM2):c.*53G>ASNV Uncertain significance 298653 rs886046672 10:104836990-104836990 10:103077233-103077233
22 CNNM2 NM_017649.5(CNNM2):c.*690C>TSNV Uncertain significance 298660 rs886046675 10:104837627-104837627 10:103077870-103077870
23 CNNM2 NM_017649.5(CNNM2):c.210G>A (p.Glu70=)SNV Uncertain significance 298636 rs886046670 10:104678447-104678447 10:102918690-102918690
24 CNNM2 NM_017649.5(CNNM2):c.2188A>G (p.Thr730Ala)SNV Uncertain significance 298648 rs886046671 10:104831551-104831551 10:103071794-103071794
25 CNNM2 NM_017649.5(CNNM2):c.*205G>ASNV Uncertain significance 298654 rs886046673 10:104837142-104837142 10:103077385-103077385
26 CNNM2 NM_017649.5(CNNM2):c.-65G>ASNV Uncertain significance 298633 rs886046668 10:104678173-104678173 10:102918416-102918416
27 CNNM2 NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val)SNV Uncertain significance 298646 rs375262395 10:104816660-104816660 10:103056903-103056903
28 CNNM2 NM_017649.5(CNNM2):c.621C>T (p.Ser207=)SNV Likely benign 878024 10:104678858-104678858 10:102919101-102919101
29 CNNM2 NM_017649.5(CNNM2):c.903C>T (p.Tyr301=)SNV Benign/Likely benign 740699 10:104679140-104679140 10:102919383-102919383
30 CNNM2 NM_017649.5(CNNM2):c.1515C>T (p.Pro505=)SNV Benign/Likely benign 298642 rs144140948 10:104679752-104679752 10:102919995-102919995
31 CNNM2 NM_017649.5(CNNM2):c.564C>T (p.Ser188=)SNV Benign/Likely benign 298638 rs117691462 10:104678801-104678801 10:102919044-102919044
32 CNNM2 NM_017649.5(CNNM2):c.1842T>C (p.Ser614=)SNV Benign 298645 rs2275271 10:104814162-104814162 10:103054405-103054405
33 CNNM2 NM_017649.5(CNNM2):c.*3C>TSNV Benign 298651 rs2296568 10:104836940-104836940 10:103077183-103077183
34 CNNM2 NM_017649.5(CNNM2):c.*52C>TSNV Benign 298652 rs367767821 10:104836989-104836989 10:103077232-103077232
35 CNNM2 NM_017649.5(CNNM2):c.*311G>ASNV Benign 298655 rs376027544 10:104837248-104837248 10:103077491-103077491
36 CNNM2 NM_017649.5(CNNM2):c.*794G>ASNV Benign 298661 rs41287480 10:104837731-104837731 10:103077974-103077974
37 CNNM2 NM_017649.5(CNNM2):c.*891G>TSNV Benign 298666 rs185818969 10:104837828-104837828 10:103078071-103078071
38 CNNM2 NM_017649.5(CNNM2):c.*904G>CSNV Benign 298667 rs145537350 10:104837841-104837841 10:103078084-103078084
39 CNNM2 NM_017649.5(CNNM2):c.113G>A (p.Arg38Gln)SNV Benign 298635 rs76057237 10:104678350-104678350 10:102918593-102918593
40 CNNM2 NM_017649.5(CNNM2):c.-110A>TSNV Benign 298632 rs555951352 10:104678128-104678128 10:102918371-102918371
41 CNNM2 NM_017649.5(CNNM2):c.342G>T (p.Thr114=)SNV Benign 298637 rs375416482 10:104678579-104678579 10:102918822-102918822
42 CNNM2 NM_017649.5(CNNM2):c.801C>T (p.Cys267=)SNV Benign 298640 rs367789750 10:104679038-104679038 10:102919281-102919281
43 CNNM2 NM_017649.5(CNNM2):c.2073+14T>CSNV Benign 298647 rs184406418 10:104816735-104816735 10:103056978-103056978
44 CNNM2 NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr)SNV Benign 298639 rs75800852 10:104678841-104678841 10:102919084-102919084
45 CNNM2 NM_017649.5(CNNM2):c.1134C>T (p.Leu378=)SNV Benign 298641 rs2297785 10:104679371-104679371 10:102919614-102919614
46 CNNM2 NM_017649.5(CNNM2):c.1622-6C>TSNV Benign 298643 rs74464353 10:104809458-104809458 10:103049701-103049701
47 CNNM2 NM_017649.5(CNNM2):c.*879G>ASNV Benign 298665 rs1046411 10:104837816-104837816 10:103078059-103078059
48 CNNM2 NM_017649.5(CNNM2):c.90C>T (p.Arg30=)SNV Benign 757526 10:104678327-104678327 10:102918570-102918570
49 CNNM2 NM_017649.5(CNNM2):c.411C>G (p.Gly137=)SNV Benign 878023 10:104678648-104678648 10:102918891-102918891
50 CNNM2 NM_017649.5(CNNM2):c.*543A>GSNV Benign 878078 10:104837480-104837480 10:103077723-103077723

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
Content
Loading form....