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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

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Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
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:

5584

Name:

Hypomagnesemia 5, Renal, with Ocular Involvement

Definition:

Alternative IDs:

OMIM:248190

ParentIDs:

MESH:D015499|MESH:D015785

TreeNumbers:

C11.270/C565423 |C12.777.419.815/C565423 |C13.351.968.419.815/C565423 |C16.320.290/C565423 |C16.320.565.861/C565423 |C18.452.648.861/C565423

Synonyms:

FHHNC WITH SEVERE OCULAR INVOLVEMENT |HOMG5 |Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement |Hypomagnesemia, Renal, with Ocular Involvement |Macular Coloboma, Bilateral, with Hypercalciuria

Slim Mappings:

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

Reference:

MedGen: C565423
MeSH: C565423
OMIM: 248190;

Genes: CLDN19;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0012622	Chronic kidney disease
3	HP:0002150	Hypercalciuria
4	HP:0012608	Hypermagnesiuria
5	HP:0002917	Hypomagnesemia
6	HP:0001116	Macular coloboma
7	HP:0000545	Myopia
8	HP:0000121	Nephrocalcinosis
9	HP:0000787	Nephrolithiasis
10	HP:0000639	Nystagmus
11	HP:0000547	obsolete Tapetoretinal degeneration
12	HP:0000010	Recurrent urinary tract infections
13	HP:0012637	Renal calcium wasting
14	HP:0005567	Renal magnesium wasting

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
NM_148960.2(CLDN19):c.269T>C (p.Leu90Pro)	149461	CLDN19	Pathogenic	118203981	RCV000001428;	N	MedGen:C1855466,OMIM:248190	1	43204211	43204211	NM_148960.2:c.269T>C	NP_683763.2:p.Leu90Pro	NC_000001.10:g.43204211A>G	OMIM Allelic Variant:610036.0003	C1855466 248190 Hypomagnesemia 5, renal, with ocular involvement
NM_148960.2(CLDN19):c.169C>G (p.Gln57Glu)	149461	CLDN19	Pathogenic	118203980	RCV000001427;	N	MedGen:C1855466,OMIM:248190	1	43205566	43205566	NM_148960.2:c.169C>G	NP_683763.2:p.Gln57Glu	NC_000001.10:g.43205566G>C	OMIM Allelic Variant:610036.0002	C1855466 248190 Hypomagnesemia 5, renal, with ocular involvement
NM_148960.2(CLDN19):c.59G>A (p.Gly20Asp)	149461	CLDN19	Pathogenic	118203979	RCV000001426;	N	MedGen:C1855466,OMIM:248190	1	43205676	43205676	NM_148960.2:c.59G>A	NP_683763.2:p.Gly20Asp	NC_000001.10:g.43205676C>T	OMIM Allelic Variant:610036.0001	C1855466 248190 Hypomagnesemia 5, renal, with ocular involvement