MCID: FML315
MIFTS: 14

Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia

Categories: Nephrological diseases, Metabolic diseases, Rare diseases, Genetic 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 59

Characteristics:

Orphanet epidemiological data:

59
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 EGF (Epidermal Growth Factor). 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 11.4

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

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

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypomagnesemia 59 32 obligate (100%) Obligate (100%) HP:0002917
2 hypermagnesiuria 59 32 obligate (100%) Obligate (100%) HP:0012608
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
5 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
6 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
7 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
8 poor speech 59 32 frequent (33%) Frequent (79-30%) HP:0002465
9 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
10 hyperactive deep tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0006801
11 moderate global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0011343
12 microcephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0000252
13 autistic behavior 59 32 very rare (1%) Very rare (<4-1%) HP:0000729
14 ventriculomegaly 59 32 very rare (1%) Very rare (<4-1%) HP:0002119
15 abnormal myelination 59 32 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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