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MCID: FML315
MIFTS: 22

Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Familial Primary Hypomagnesemia with Normocalciuria and...

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MalaCards integrated aliases for Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia:

Name: Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia 58

Characteristics:

Orphanet epidemiological data:

58
familial primary hypomagnesemia with normocalciuria and normocalcemia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy; Age of death: any age;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


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Summaries for Familial Primary Hypomagnesemia with Normocalciuria and...

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MalaCards based summary : Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia is related to hypomagnesemia 2, renal and schizophrenia. An important gene associated with Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia is CNNM2 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2). Related phenotypes are hypomagnesemia and hypermagnesiuria

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Related Diseases for Familial Primary Hypomagnesemia with Normocalciuria and...

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Diseases related to Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypomagnesemia 2, renal 11.5
2 schizophrenia 9.5 EGF CNNM2

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Symptoms & Phenotypes for Familial Primary Hypomagnesemia with Normocalciuria and...

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Human phenotypes related to Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypomagnesemia 58 31 obligate (100%) Obligate (100%) HP:0002917
2 hypermagnesiuria 58 31 obligate (100%) Obligate (100%) HP:0012608
3 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
4 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
5 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
6 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
7 moderate global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011343
8 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
9 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
10 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
11 seizure 31 frequent (33%) HP:0001250
12 microcephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000252
13 ventriculomegaly 58 31 very rare (1%) Very rare (<4-1%) HP:0002119
14 autistic behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000729
15 abnormal myelination 58 31 very rare (1%) Very rare (<4-1%) HP:0012447
16 seizures 58 Frequent (79-30%)
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Drugs & Therapeutics for Familial Primary Hypomagnesemia with Normocalciuria and...

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Search Clinical Trials , NIH Clinical Center for Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia

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Genetic Tests for Familial Primary Hypomagnesemia with Normocalciuria and...

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Anatomical Context for Familial Primary Hypomagnesemia with Normocalciuria and...

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Publications for Familial Primary Hypomagnesemia with Normocalciuria and...

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Articles related to Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia:

# Title Authors PMID Year
1
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. 6
24699222 2014
2
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. 6
21397062 2011
3
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. 6
17671655 2007
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Variations for Familial Primary Hypomagnesemia with Normocalciuria and...

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ClinVar genetic disease variations for Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia:

6 (show top 50) (show all 188)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EGF NM_001963.6(EGF):c.3209C>T (p.Pro1070Leu) SNV Pathogenic 16614 rs121434567 4:110925696-110925696 4:110004540-110004540
2 CNNM2 NM_017649.5(CNNM2):c.117del (p.Ile40fs) Deletion Pathogenic 30683 rs1564803221 10:104678350-104678350 10:102918593-102918593
3 CNNM2 NM_017649.5(CNNM2):c.1703C>T (p.Thr568Ile) SNV Pathogenic 30684 rs387906975 10:104809545-104809545 10:103049788-103049788
4 CNNM2 NM_017649.5(CNNM2):c.364G>A (p.Glu122Lys) SNV Pathogenic 192323 rs786205909 10:104678601-104678601 10:102918844-102918844
5 CNNM2 NM_017649.5(CNNM2):c.1069G>A (p.Glu357Lys) SNV Pathogenic 192324 rs786205910 10:104679306-104679306 10:102919549-102919549
6 CNNM2 NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) SNV Likely pathogenic 192325 rs794726858 10:104679043-104679043 10:102919286-102919286
7 EGF NM_001963.6(EGF):c.47G>C (p.Ser16Thr) SNV Uncertain significance 347225 rs200394315 4:110834538-110834538 4:109913382-109913382
8 EGF NM_001963.6(EGF):c.3530G>C (p.Gly1177Ala) SNV Uncertain significance 347261 rs140730971 4:110932517-110932517 4:110011361-110011361
9 EGF NM_001963.6(EGF):c.1491T>C (p.His497=) SNV Uncertain significance 347236 rs377445081 4:110885609-110885609 4:109964453-109964453
10 EGF NM_001963.6(EGF):c.57T>C (p.Ser19=) SNV Uncertain significance 721901 rs767958539 4:110834548-110834548 4:109913392-109913392
11 EGF NM_001963.6(EGF):c.1137C>T (p.Tyr379=) SNV Uncertain significance 730986 rs971946479 4:110882093-110882093 4:109960937-109960937
12 EGF NM_001963.6(EGF):c.2362C>T (p.Leu788=) SNV Uncertain significance 739998 rs376855018 4:110902122-110902122 4:109980966-109980966
13 EGF NM_001963.6(EGF):c.2760G>A (p.Glu920=) SNV Uncertain significance 762429 rs760507781 4:110914428-110914428 4:109993272-109993272
14 CNNM2 NM_017649.5(CNNM2):c.296C>G (p.Thr99Ser) SNV Uncertain significance 878022 10:104678533-104678533 10:102918776-102918776
15 CNNM2 NM_017649.5(CNNM2):c.2125G>T (p.Ala709Ser) SNV Uncertain significance 930941 10:104828437-104828437 10:103068680-103068680
16 CNNM2 NM_017649.5(CNNM2):c.1621+21dup Duplication Uncertain significance 931077 10:104679876-104679877 10:102920119-102920120
17 EGF NM_001963.6(EGF):c.803C>A (p.Thr268Lys) SNV Uncertain significance 931532 4:110866294-110866294 4:109945138-109945138
18 EGF NM_001963.6(EGF):c.-361C>G SNV Uncertain significance 901633 4:110834131-110834131 4:109912975-109912975
19 EGF NM_001963.6(EGF):c.-342C>G SNV Uncertain significance 901634 4:110834150-110834150 4:109912994-109912994
20 EGF NM_001963.6(EGF):c.-273T>C SNV Uncertain significance 901635 4:110834219-110834219 4:109913063-109913063
21 EGF NM_001963.6(EGF):c.-270T>G SNV Uncertain significance 901636 4:110834222-110834222 4:109913066-109913066
22 EGF NM_001963.6(EGF):c.-60C>T SNV Uncertain significance 903587 4:110834432-110834432 4:109913276-109913276
23 EGF NM_001963.6(EGF):c.1575+6G>T SNV Uncertain significance 903649 4:110885699-110885699 4:109964543-109964543
24 EGF NM_001963.6(EGF):c.1684G>C (p.Val562Leu) SNV Uncertain significance 903650 4:110890235-110890235 4:109969079-109969079
25 EGF NM_001963.6(EGF):c.3292-7T>C SNV Uncertain significance 781980 rs200524686 4:110929301-110929301 4:110008145-110008145
26 EGF NM_001963.6(EGF):c.2940C>T (p.His980=) SNV Uncertain significance 762136 rs140319442 4:110915971-110915971 4:109994815-109994815
27 EGF NM_001963.6(EGF):c.1602G>A (p.Lys534=) SNV Uncertain significance 778314 rs140682556 4:110890153-110890153 4:109968997-109968997
28 EGF NM_001963.6(EGF):c.2337G>A (p.Thr779=) SNV Uncertain significance 901215 4:110902097-110902097 4:109980941-109980941
29 EGF NM_001963.6(EGF):c.791G>A (p.Trp264Ter) SNV Uncertain significance 632423 rs867950317 4:110866282-110866282 4:109945126-109945126
30 EGF NM_001963.6(EGF):c.1180C>T (p.Arg394Ter) SNV Uncertain significance 632424 rs369702571 4:110882136-110882136 4:109960980-109960980
31 EGF NM_001963.6(EGF):c.*1001C>G SNV Uncertain significance 347280 rs765122805 4:110933612-110933612 4:110012456-110012456
32 CNNM2 NM_017649.5(CNNM2):c.2188A>G (p.Thr730Ala) SNV Uncertain significance 298648 rs886046671 10:104831551-104831551 10:103071794-103071794
33 EGF NM_001963.6(EGF):c.*157G>A SNV Uncertain significance 347265 rs190671898 4:110932768-110932768 4:110011612-110011612
34 EGF NM_001963.6(EGF):c.2755G>A (p.Gly919Arg) SNV Uncertain significance 347251 rs886058994 4:110914423-110914423 4:109993267-109993267
35 EGF NM_001963.6(EGF):c.*361T>C SNV Uncertain significance 347268 rs542979630 4:110932972-110932972 4:110011816-110011816
36 CNNM2 NM_017649.5(CNNM2):c.*205G>A SNV Uncertain significance 298654 rs886046673 10:104837142-104837142 10:103077385-103077385
37 CNNM2 NM_017649.5(CNNM2):c.*690C>T SNV Uncertain significance 298660 rs886046675 10:104837627-104837627 10:103077870-103077870
38 EGF NM_001963.6(EGF):c.3073G>T (p.Ala1025Ser) SNV Uncertain significance 347254 rs149056615 4:110920902-110920902 4:109999746-109999746
39 EGF NM_001963.6(EGF):c.1575+6G>A SNV Uncertain significance 347237 rs148355596 4:110885699-110885699 4:109964543-109964543
40 CNNM2 NM_017649.5(CNNM2):c.49C>G (p.Gln17Glu) SNV Uncertain significance 298634 rs886046669 10:104678286-104678286 10:102918529-102918529
41 EGF NM_001963.6(EGF):c.3346G>T (p.Gly1116Cys) SNV Uncertain significance 347257 rs886058995 4:110929362-110929362 4:110008206-110008206
42 EGF NM_001963.6(EGF):c.*561G>C SNV Uncertain significance 347274 rs11569147 4:110933172-110933172 4:110012016-110012016
43 CNNM2 NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val) SNV Uncertain significance 298646 rs375262395 10:104816660-104816660 10:103056903-103056903
44 CNNM2 NM_017649.5(CNNM2):c.*834C>T SNV Uncertain significance 298663 rs886046677 10:104837771-104837771 10:103078014-103078014
45 EGF NM_001963.6(EGF):c.*67A>G SNV Uncertain significance 347263 rs572682450 4:110932678-110932678 4:110011522-110011522
46 EGF NM_001963.6(EGF):c.*184A>C SNV Uncertain significance 347266 rs886058997 4:110932795-110932795 4:110011639-110011639
47 EGF NM_001963.6(EGF):c.-265G>T SNV Uncertain significance 347220 rs886058989 4:110834227-110834227 4:109913071-109913071
48 EGF NM_001963.6(EGF):c.1818T>C (p.His606=) SNV Uncertain significance 347240 rs139266578 4:110895952-110895952 4:109974796-109974796
49 EGF NM_001963.6(EGF):c.2088T>C (p.Tyr696=) SNV Uncertain significance 347243 rs375886742 4:110901162-110901162 4:109980006-109980006
50 EGF NM_001963.6(EGF):c.2608+14G>A SNV Uncertain significance 347249 rs886058992 4:110909030-110909030 4:109987874-109987874
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Expression for Familial Primary Hypomagnesemia with Normocalciuria and...

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Search GEO for disease gene expression data for Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia.
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Pathways for Familial Primary Hypomagnesemia with Normocalciuria and...

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GO Terms for Familial Primary Hypomagnesemia with Normocalciuria and...

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Sources for Familial Primary Hypomagnesemia with Normocalciuria and...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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