MCID: FML315
MIFTS: 13

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 60

Characteristics:

Orphanet epidemiological data:

60
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:



Summaries for Familial Primary Hypomagnesemia with Normocalciuria and...

MalaCards based summary : Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia is related to hypomagnesemia 2, renal. 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

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 11.6

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

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

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypomagnesemia 60 33 obligate (100%) Obligate (100%) HP:0002917
2 hypermagnesiuria 60 33 obligate (100%) Obligate (100%) HP:0012608
3 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
4 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
5 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
6 intellectual disability, moderate 60 33 frequent (33%) Frequent (79-30%) HP:0002342
7 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
8 headache 60 33 frequent (33%) Frequent (79-30%) HP:0002315
9 moderate global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0011343
10 hyperactive deep tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0006801
11 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
12 microcephaly 60 33 very rare (1%) Very rare (<4-1%) HP:0000252
13 ventriculomegaly 60 33 very rare (1%) Very rare (<4-1%) HP:0002119
14 autistic behavior 60 33 very rare (1%) Very rare (<4-1%) HP:0000729
15 abnormal myelination 60 33 very rare (1%) Very rare (<4-1%) HP:0012447

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...

Publications for Familial Primary Hypomagnesemia with Normocalciuria and...

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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