HOMG6
MCID: HYP445
MIFTS: 23

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 57 29 13 6 71
Homg6 57 12 73
Hypomagnesemia, Type 6, Renal 39
Renal Hypomagnesemia 6 12
Renal Hypomagnesemia-6 20
Hypomagnesemia 6 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 613882
OMIM Phenotypic Series 57 PS602014
MeSH 44 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 57
21397062 2011
2
Anti-EGFR Therapy in Metastatic Small Bowel Adenocarcinoma: Myth or Reality? 61
32821190 2020

Variations for Hypomagnesemia 6, Renal

ClinVar genetic disease variations for Hypomagnesemia 6, Renal:

6 (show top 50) (show all 61)
# 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.2188A>G (p.Thr730Ala) SNV Uncertain significance 298648 rs886046671 10:104831551-104831551 10:103071794-103071794
4 CNNM2 NM_017649.5(CNNM2):c.*205G>A SNV Uncertain significance 298654 rs886046673 10:104837142-104837142 10:103077385-103077385
5 CNNM2 NM_017649.5(CNNM2):c.*690C>T SNV Uncertain significance 298660 rs886046675 10:104837627-104837627 10:103077870-103077870
6 CNNM2 NM_017649.5(CNNM2):c.49C>G (p.Gln17Glu) SNV Uncertain significance 298634 rs886046669 10:104678286-104678286 10:102918529-102918529
7 CNNM2 NM_017649.5(CNNM2):c.*834C>T SNV Uncertain significance 298663 rs886046677 10:104837771-104837771 10:103078014-103078014
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.-65G>A SNV Uncertain significance 298633 rs886046668 10:104678173-104678173 10:102918416-102918416
10 CNNM2 NM_017649.5(CNNM2):c.*686T>A SNV Uncertain significance 298659 rs886046674 10:104837623-104837623 10:103077866-103077866
11 CNNM2 NM_017649.5(CNNM2):c.*53G>A SNV Uncertain significance 298653 rs886046672 10:104836990-104836990 10:103077233-103077233
12 CNNM2 NM_017649.5(CNNM2):c.210G>A (p.Glu70=) SNV Uncertain significance 298636 rs886046670 10:104678447-104678447 10:102918690-102918690
13 CNNM2 NM_017649.5(CNNM2):c.*811A>G SNV Uncertain significance 298662 rs886046676 10:104837748-104837748 10:103077991-103077991
14 CNNM2 NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val) SNV Uncertain significance 298646 rs375262395 10:104816660-104816660 10:103056903-103056903
15 CNNM2 NM_017649.5(CNNM2):c.2400G>A (p.Ser800=) SNV Uncertain significance 877907 10:104836009-104836009 10:103076252-103076252
16 CNNM2 NM_017649.5(CNNM2):c.2430G>T (p.Gln810His) SNV Uncertain significance 877908 10:104836739-104836739 10:103076982-103076982
17 CNNM2 NM_017649.5(CNNM2):c.849C>T (p.Asp283=) SNV Uncertain significance 878025 10:104679086-104679086 10:102919329-102919329
18 CNNM2 NM_017649.5(CNNM2):c.*310C>T SNV Uncertain significance 878076 10:104837247-104837247 10:103077490-103077490
19 CNNM2 NM_017649.5(CNNM2):c.*519G>A SNV Uncertain significance 878077 10:104837456-104837456 10:103077699-103077699
20 CNNM2 NM_017649.5(CNNM2):c.*159G>C SNV Uncertain significance 877910 10:104837096-104837096 10:103077339-103077339
21 CNNM2 NM_017649.5(CNNM2):c.*606G>C SNV Uncertain significance 878079 10:104837543-104837543 10:103077786-103077786
22 CNNM2 NM_017649.5(CNNM2):c.1263C>G (p.Thr421=) SNV Uncertain significance 879489 10:104679500-104679500 10:102919743-102919743
23 CNNM2 NM_017649.5(CNNM2):c.2004C>T (p.Asn668=) SNV Uncertain significance 879848 10:104816652-104816652 10:103056895-103056895
24 CNNM2 NM_017649.5(CNNM2):c.2190C>T (p.Thr730=) SNV Uncertain significance 879849 10:104831553-104831553 10:103071796-103071796
25 CNNM2 NM_017649.5(CNNM2):c.2355G>C (p.Ser785=) SNV Uncertain significance 879850 10:104835964-104835964 10:103076207-103076207
26 CNNM2 NM_017649.5(CNNM2):c.2385G>T (p.Ser795=) SNV Uncertain significance 879851 10:104835994-104835994 10:103076237-103076237
27 CNNM2 NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser) SNV Uncertain significance 878022 10:104678533-104678533 10:102918776-102918776
28 CNNM2 NM_017649.5(CNNM2):c.2125G>T (p.Ala709Ser) SNV Uncertain significance 930941 10:104828437-104828437 10:103068680-103068680
29 CNNM2 NM_017649.5(CNNM2):c.1621+21dup Duplication Uncertain significance 931077 10:104679876-104679877 10:102920119-102920120
30 CNNM2 NM_017649.5(CNNM2):c.621C>T (p.Ser207=) SNV Likely benign 878024 10:104678858-104678858 10:102919101-102919101
31 CNNM2 NM_017649.5(CNNM2):c.903C>T (p.Tyr301=) SNV Benign 740699 rs140279763 10:104679140-104679140 10:102919383-102919383
32 CNNM2 NM_017649.5(CNNM2):c.564C>T (p.Ser188=) SNV Benign 298638 rs117691462 10:104678801-104678801 10:102919044-102919044
33 CNNM2 NM_017649.5(CNNM2):c.1515C>T (p.Pro505=) SNV Benign 298642 rs144140948 10:104679752-104679752 10:102919995-102919995
34 CNNM2 NM_017649.5(CNNM2):c.90C>T (p.Arg30=) SNV Benign 757526 rs202027427 10:104678327-104678327 10:102918570-102918570
35 CNNM2 NM_017649.5(CNNM2):c.1128C>T (p.Ile376=) SNV Benign 879488 10:104679365-104679365 10:102919608-102919608
36 CNNM2 NM_017649.5(CNNM2):c.411C>G (p.Gly137=) SNV Benign 878023 10:104678648-104678648 10:102918891-102918891
37 CNNM2 NM_017649.5(CNNM2):c.*543A>G SNV Benign 878078 10:104837480-104837480 10:103077723-103077723
38 CNNM2 NM_017649.5(CNNM2):c.*34C>T SNV Benign 877909 10:104836971-104836971 10:103077214-103077214
39 CNNM2 NM_017649.5(CNNM2):c.2310C>T (p.Ala770=) SNV Benign 298649 rs943037 10:104835919-104835919 10:103076162-103076162
40 CNNM2 NM_017649.5(CNNM2):c.*879G>A SNV Benign 298665 rs1046411 10:104837816-104837816 10:103078059-103078059
41 CNNM2 NM_017649.5(CNNM2):c.1842T>C (p.Ser614=) SNV Benign 298645 rs2275271 10:104814162-104814162 10:103054405-103054405
42 CNNM2 NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr) SNV Benign 298639 rs75800852 10:104678841-104678841 10:102919084-102919084
43 CNNM2 NM_017649.5(CNNM2):c.*455C>T SNV Benign 298656 rs3740389 10:104837392-104837392 10:103077635-103077635
44 CNNM2 NM_017649.5(CNNM2):c.1134C>T (p.Leu378=) SNV Benign 298641 rs2297785 10:104679371-104679371 10:102919614-102919614
45 CNNM2 NM_017649.5(CNNM2):c.2073+14T>C SNV Benign 298647 rs184406418 10:104816735-104816735 10:103056978-103056978
46 CNNM2 NM_017649.5(CNNM2):c.2544C>T (p.Asp848=) SNV Benign 298650 rs35647154 10:104836853-104836853 10:103077096-103077096
47 CNNM2 NM_017649.5(CNNM2):c.*904G>C SNV Benign 298667 rs145537350 10:104837841-104837841 10:103078084-103078084
48 CNNM2 NM_017649.5(CNNM2):c.1622-6C>T SNV Benign 298643 rs74464353 10:104809458-104809458 10:103049701-103049701
49 CNNM2 NM_017649.5(CNNM2):c.*1246G>C SNV Benign 298669 rs553490290 10:104838183-104838183 10:103078426-103078426
50 CNNM2 NM_017649.5(CNNM2):c.*891G>T SNV Benign 298666 rs185818969 10:104837828-104837828 10:103078071-103078071

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

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72 UMLS via Orphanet
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