MCID: HYP302
MIFTS: 18

Hypomagnesemia 4, Renal

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

Aliases & Classifications for Hypomagnesemia 4, Renal

MalaCards integrated aliases for Hypomagnesemia 4, Renal:

Name: Hypomagnesemia 4, Renal 57 29 13 6 73
Homg4 57 12 75
Hypomagnesemia, Renal, Normocalciuric 57
Renal Hypomagnesemia Normocalciuric 75
Hypomagnesemia, Type 4, Renal 40
Renal Hypomagnesemia 4 12
Hypomagnesemia 4 75

Characteristics:

HPO:

32
hypomagnesemia 4, renal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611718
Disease Ontology 12 DOID:0060882
ICD10 33 E83.4
MedGen 42 C2673648
MeSH 44 D015499
UMLS 73 C2673648

Summaries for Hypomagnesemia 4, Renal

UniProtKB/Swiss-Prot : 75 Hypomagnesemia 4: A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.

MalaCards based summary : Hypomagnesemia 4, Renal, is also known as homg4. An important gene associated with Hypomagnesemia 4, Renal is EGF (Epidermal Growth Factor). Related phenotypes are seizures and global developmental delay

Disease Ontology : 12 A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material basis in variation in the chromosome region 4q25.

Description from OMIM: 611718

Related Diseases for Hypomagnesemia 4, Renal

Diseases in the Hypomagnesemia 2, Renal family:

Hypomagnesemia 3, Renal Hypomagnesemia 4, Renal
Hypomagnesemia 6, Renal

Symptoms & Phenotypes for Hypomagnesemia 4, Renal

Clinical features from OMIM:

611718

Human phenotypes related to Hypomagnesemia 4, Renal:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 global developmental delay 32 very rare (1%) HP:0001263
3 intellectual disability, moderate 32 very rare (1%) HP:0002342
4 hypomagnesemia 32 very rare (1%) HP:0002917

Drugs & Therapeutics for Hypomagnesemia 4, Renal

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia 4, Renal

Genetic Tests for Hypomagnesemia 4, Renal

Genetic tests related to Hypomagnesemia 4, Renal:

# Genetic test Affiliating Genes
1 Hypomagnesemia 4, Renal 29 EGF

Anatomical Context for Hypomagnesemia 4, Renal

Publications for Hypomagnesemia 4, Renal

Variations for Hypomagnesemia 4, Renal

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 4, Renal:

75
# Symbol AA change Variation ID SNP ID
1 EGF p.Pro1070Leu VAR_039474 rs121434567

ClinVar genetic disease variations for Hypomagnesemia 4, Renal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EGF NM_001963.5(EGF): c.3209C> T (p.Pro1070Leu) single nucleotide variant Pathogenic rs121434567 GRCh37 Chromosome 4, 110925696: 110925696
2 EGF NM_001963.5(EGF): c.3209C> T (p.Pro1070Leu) single nucleotide variant Pathogenic rs121434567 GRCh38 Chromosome 4, 110004540: 110004540

Expression for Hypomagnesemia 4, Renal

Search GEO for disease gene expression data for Hypomagnesemia 4, Renal.

Pathways for Hypomagnesemia 4, Renal

GO Terms for Hypomagnesemia 4, Renal

Sources for Hypomagnesemia 4, Renal

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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