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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Hypomagnesemia 4, Renal (C567127)
Child Nodes:
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5583

Name:

Hypomagnesemia 4, Renal

Definition:

Alternative IDs:

OMIM:611718

ParentIDs:

MESH:D015499

TreeNumbers:

C12.777.419.815/C567127 |C13.351.968.419.815/C567127 |C16.320.565.861/C567127 |C18.452.648.861/C567127

Synonyms:

HOMG4 |Hypomagnesemia, Renal, Normocalciuric

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C567127
MeSH: C567127
OMIM: 611718;

Genes: EGF;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001263	Global developmental delay	HP:0040284
3	HP:0002917	Hypomagnesemia	HP:0040284
4	HP:0002342	Intellectual disability, moderate	HP:0040284
5	HP:0001250	Seizure	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001963.5(EGF):c.3209C>T (p.Pro1070Leu)	1950	EGF	Pathogenic	121434567	RCV000018089;	N	MedGen:C2673648,OMIM:611718	4	110925696	110925696	NM_001963.5:c.3209C>T	NP_001954.2:p.Pro1070Leu	NC_000004.11:g.110925696C>T	OMIM Allelic Variant:131530.0001	C2673648 611718 Hypomagnesemia 4, renal