MCID: FML315
MIFTS: 16

Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia

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

Aliases & Classifications for Familial Primary Hypomagnesemia with Normocalciuria and...

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:

Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism


Summaries for Familial Primary Hypomagnesemia with Normocalciuria and...

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). Affiliated tissues include brain, and related phenotypes are hypomagnesemia and hypermagnesiuria

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

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 11.7
2 schizophrenia 9.2 EGF CNNM2

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

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 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
4 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
5 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
6 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
7 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
8 moderate global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011343
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%)

Drugs & Therapeutics for Familial Primary Hypomagnesemia with Normocalciuria and...

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

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

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

MalaCards organs/tissues related to Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia:

40
Brain

Publications for Familial Primary Hypomagnesemia with Normocalciuria and...

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

Variations for Familial Primary Hypomagnesemia with Normocalciuria and...

Expression for Familial Primary Hypomagnesemia with Normocalciuria and...

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

Pathways for Familial Primary Hypomagnesemia with Normocalciuria and...

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

Sources for Familial Primary Hypomagnesemia with Normocalciuria and...

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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