Hypomagnesemia 5, Renal, with or Without Ocular Involvement disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HOMG5 MCID: HYP827 MIFTS: 44	Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards integrated aliases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Name: Hypomagnesemia 5, Renal, with or Without Ocular Involvement ⁵⁶ ⁷³

Hypomagnesemia 5, Renal, with Ocular Involvement ⁵⁶ ²⁹ ¹³ ⁶

Fhhnc with Severe Ocular Involvement ⁵⁶ ¹² ⁵⁸ ⁷³

Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement ¹² ⁷³

Hypercalciuria-Bilateral Macular Coloboma Syndrome ¹² ⁵⁸

Renal Hypomagnesemia 5 with Ocular Involvement ¹² ¹⁵

Meier-Blumberg-Imahorn Syndrome ¹² ⁵⁸

Meier Blumberg Imahorn Syndrome ⁵² ⁴³

Homg5 ⁵⁶ ⁷³

Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement ⁵⁸

Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement ⁵⁶

Idiopathic Hypercalciuria with Bilateral Macular Colobomata ⁵²

Hypomagnesemia, Type 5, Renal, with Ocular Involvement ³⁹

Macular Coloboma, Bilateral, with Hypercalciuria ⁵⁶

Hypomagnesemia, Renal, with Ocular Involvement ⁵⁶

Bilateral Macular Coloboma with Hypercalciuria ¹²

Hypomagnesemia 5 Renal with Ocular Involvement ⁷³

Macular Coloboma Bilateral with Hypercalciuria ⁷³

Hypomagnesemia Renal with Ocular Involvement ⁷³

Hypomagnesemia 5 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
some patients have normal vision
variable severity of amelogenesis imperfecta, even within the same patient

HPO:

³¹

hypomagnesemia 5, renal, with or without ocular involvement:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Eye diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Disorders of magnesium metabolism

Orphanet: ⁵⁸

Rare eye diseases

Rare renal diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0060881

OMIM ⁵⁶ 248190

OMIM Phenotypic Series ⁵⁶ PS602014

MeSH ⁴³ C536148 D009397 D015499 more

ICD10 via Orphanet ³³ E83.4

UMLS via Orphanet ⁷² C1855466 C2931121

Orphanet ⁵⁸ ORPHA2196

MedGen ⁴¹ C1855466 C4721891

UMLS ⁷¹ C2931121

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Summaries for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

UniProtKB/Swiss-Prot : ⁷³ Hypomagnesemia 5, renal, with or without ocular involvement: A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.

MalaCards based summary : Hypomagnesemia 5, Renal, with or Without Ocular Involvement, also known as hypomagnesemia 5, renal, with ocular involvement, is related to nephrocalcinosis and nephrolithiasis. An important gene associated with Hypomagnesemia 5, Renal, with or Without Ocular Involvement is CLDN19 (Claudin 19), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cell junction organization. Affiliated tissues include eye and kidney, and related phenotypes are abnormality of retinal pigmentation and nephropathy

Disease Ontology : ¹² A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material basis in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.

OMIM : ⁵⁶ HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment (Konrad et al., 2006). Amelogenesis imperfecta may also be present in some patients (Yamaguti et al., 2017). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014. (248190)

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Related Diseases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)

#	Related Disease	Score	Top Affiliating Genes
1	nephrocalcinosis	28.0	SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
2	nephrolithiasis	28.0	SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
3	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	11.4
4	hypomagnesemia 3, renal	11.3
5	retinal degeneration	10.3
6	idiopathic hypercalciuria	10.3
7	hypomagnesemia 1, intestinal	10.1	CLDN19 CLDN16
8	nephrolithiasis, uric acid	10.1	CLDN19 CLDN16
9	hereditary lymphedema	10.0	CLDN19 CLDN16
10	hereditary lymphedema i	10.0	CLDN19 CLDN16
11	hypercalciuria, absorptive, 2	9.9	KCNJ1 CLDN16
12	bartter syndrome, type 2, antenatal	9.8	SLC12A1 KCNJ1
13	deafness, autosomal recessive 29	9.8	CLDN19 CLDN16 CLDN14
14	arthrogryposis, distal, type 3	9.8	SLC12A1 KCNJ1
15	diabetes insipidus	9.7	SLC12A1 BSND
16	mineral metabolism disease	9.7	SLC12A1 KCNJ1
17	hereditary hearing loss and deafness	9.6	CLDN14 BSND
18	bartter syndrome, type 4a, neonatal, with sensorineural deafness	9.6	KCNJ1 BSND
19	auditory system disease	9.5	CLDN14 BSND
20	autosomal recessive non-syndromic sensorineural deafness type dfnb	9.4	CLDN14 BSND
21	placenta disease	9.4	SLC12A1 KCNJ1
22	hypocalcemia, autosomal dominant 1	9.3	KCNJ1 CLDN16 BSND
23	bartter syndrome, type 1, antenatal	9.3	SLC12A1 KCNJ1 CLDN19 CLDN16
24	antenatal bartter syndrome	9.3	SLC12A1 KCNJ1 BSND
25	seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	9.3	SLC12A1 KCNJ1 BSND
26	dent disease 1	9.3	SLC12A1 KCNJ1 BSND
27	renal tubular transport disease	9.3	SLC12A1 KCNJ1 BSND
28	diabetes insipidus, nephrogenic, autosomal	9.2	SLC12A1 KCNJ1 BSND
29	liddle syndrome 1	9.2	SLC12A1 KCNJ1 BSND
30	hypokalemia	9.2	SLC12A1 KCNJ1 BSND
31	polyhydramnios	9.2	SLC12A1 KCNJ1 BSND
32	sensorineural hearing loss	9.0	KCNJ1 CLDN14 BSND
33	primary hypomagnesemia	9.0	TALDO1 SLC12A1 KCNJ1 CLDN19 CLDN16
34	gitelman syndrome	9.0	SLC12A1 KCNJ1 CLDN16 BSND
35	bartter syndrome, type 3	8.7	SLC12A1 KCNJ1 CLDN19 CLDN16 BSND
36	bartter disease	8.4	TALDO1 SLC12A1 KCNJ1 CLDN19 CLDN16 BSND

Graphical network of the top 20 diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

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Symptoms & Phenotypes for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Human phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

⁵⁸ ³¹ (show all 24)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormality of retinal pigmentation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007703
2	nephropathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000112
3	nystagmus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000639
4	myopia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000545
5	chorioretinal coloboma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000567
6	nephrolithiasis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000787
7	macular coloboma ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001116
8	abnormal calcium-phosphate regulating hormone level ³¹	hallmark (90%)		HP:0100530
9	inguinal hernia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000023
10	hematuria ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000790
11	umbilical hernia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001537
12	amelogenesis imperfecta ³¹	very rare (1%)		HP:0000705
13	strabismus ³¹			HP:0000486
14	recurrent urinary tract infections ³¹			HP:0000010
15	nephrocalcinosis ³¹			HP:0000121
16	hypercalciuria ³¹			HP:0002150
17	abnormality of calcium-phosphate metabolism ⁵⁸		Very frequent (99-80%)
18	rod-cone dystrophy ³¹			HP:0000510
19	astigmatism ³¹			HP:0000483
20	chronic kidney disease ³¹			HP:0012622
21	hypomagnesemia ³¹			HP:0002917
22	hypermagnesiuria ³¹			HP:0012608
23	renal calcium wasting ³¹			HP:0012637
24	renal magnesium wasting ³¹			HP:0005567

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
nystagmus
strabismus
myopia
astigmatism
tapetoretinal degeneration
more

Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
renal calcium wasting
renal magnesium wasting
progressive renal failure

Head And Neck Teeth:
hypoplastic enamel
amelogenesis imperfecta (in some patients)
yellow-brownish discoloration of teeth
cusp malformation
diffuse opacities
more

Genitourinary Bladder:
recurrent urinary tract infections

Laboratory Abnormalities:
hypercalciuria
hypomagnesemia
hypermagnesiuria
normal serum calcium

Clinical features from OMIM:

248190

MGI Mouse Phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.43	BSND CLDN16 CLDN19 KCNJ1 SLC12A1 TALDO1
2	renal/urinary system	MP:0005367	8.92	BSND CLDN16 KCNJ1 SLC12A1

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Drugs & Therapeutics for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Cochrane evidence based reviews: meier blumberg imahorn syndrome

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Genetic Tests for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Genetic tests related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

#	Genetic test	Affiliating Genes
1	Hypomagnesemia 5, Renal, with Ocular Involvement ²⁹	CLDN19

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Anatomical Context for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards organs/tissues related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

⁴⁰

Eye, Kidney

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Publications for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Articles related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

#	Title	Authors	PMID	Year
1	Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ⁶ ⁵⁶	Yamaguti PM...Acevedo AC	27530400	2017
2	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. ⁵⁶ ⁶	Godron A...Vargas-Poussou R	22422540	2012
3	Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. ⁶ ⁵⁶	Konrad M...Weber S	17033971	2006
4	Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome. ⁶¹ ⁵⁶	Meier W...Oetliker O	500385	1979
5	Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. ⁵⁶	Rodriguez-Soriano J...Vallo A	7947033	1994

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Genes for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Genes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CLDN19	Claudin 19	Protein Coding	1675.99	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17033971 27530400 22422540
2	CLDN16	Claudin 16	Protein Coding	7.34	DISEASES inferred ¹⁵
3	TALDO1	Transaldolase 1	Protein Coding	5.66	DISEASES inferred ¹⁵
4	CLDN14	Claudin 14	Protein Coding	5.59	DISEASES inferred ¹⁵
5	KCNJ1	Potassium Inwardly Rectifying Channel Subfamily J Member 1	Protein Coding	5.46	DISEASES inferred ¹⁵
6	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	5.41	DISEASES inferred ¹⁵
7	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	5.4	DISEASES inferred ¹⁵

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Variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

ClinVar genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

⁶ (show top 50) (show all 70) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CLDN19	NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)	SNV	Pathogenic	548636	rs118203981	1:43204211-43204211	1:42738540-42738540
2	CLDN19	NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter)	SNV	Pathogenic	548637	rs118203980	1:43205566-43205566	1:42739895-42739895
3	CLDN19	NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)	SNV	Pathogenic	560599	rs1557551678	1:43204092-43204092	1:42738421-42738421
4	CLDN19	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	SNV	Pathogenic	1361	rs118203979	1:43205676-43205676	1:42740005-42740005
5	CLDN19	NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu)	SNV	Pathogenic	1362	rs118203980	1:43205566-43205566	1:42739895-42739895
6	CLDN19	NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro)	SNV	Pathogenic	1363	rs118203981	1:43204211-43204211	1:42738540-42738540
7	CLDN19	NM_148960.3(CLDN19):c.*1698A>G	SNV	Uncertain significance	297317	rs765727450	1:43199059-43199059	1:42733388-42733388
8	CLDN19	NM_148960.3(CLDN19):c.*1621T>C	SNV	Uncertain significance	297319	rs1057515454	1:43199136-43199136	1:42733465-42733465
9	CLDN19	NM_148960.3(CLDN19):c.*1483G>T	SNV	Uncertain significance	297320	rs1051069098	1:43199274-43199274	1:42733603-42733603
10	CLDN19	NM_148960.3(CLDN19):c.*1312G>A	SNV	Uncertain significance	297323	rs972101560	1:43199445-43199445	1:42733774-42733774
11	CLDN19	NM_148960.3(CLDN19):c.*1073G>A	SNV	Uncertain significance	297324	rs1057515527	1:43199684-43199684	1:42734013-42734013
12	CLDN19	NM_148960.3(CLDN19):c.*523G>A	SNV	Uncertain significance	297333	rs776804215	1:43200234-43200234	1:42734563-42734563
13	CLDN19	NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr)	SNV	Uncertain significance	836436		1:43200786-43200786	1:42735115-42735115
14	CLDN19	NM_148960.3(CLDN19):c.*1965T>G	SNV	Uncertain significance	874437		1:43198792-43198792	1:42733121-42733121
15	CLDN19	NM_148960.3(CLDN19):c.*1925T>C	SNV	Uncertain significance	874438		1:43198832-43198832	1:42733161-42733161
16	CLDN19	NM_148960.3(CLDN19):c.*1919G>A	SNV	Uncertain significance	874439		1:43198838-43198838	1:42733167-42733167
17	CLDN19	NM_148960.3(CLDN19):c.*1909G>A	SNV	Uncertain significance	874440		1:43198848-43198848	1:42733177-42733177
18	CLDN19	NM_148960.3(CLDN19):c.*1908C>T	SNV	Uncertain significance	874441		1:43198849-43198849	1:42733178-42733178
19	CLDN19	NM_148960.3(CLDN19):c.*1829A>G	SNV	Uncertain significance	874442		1:43198928-43198928	1:42733257-42733257
20	CLDN19	NM_148960.3(CLDN19):c.*1822C>T	SNV	Uncertain significance	874443		1:43198935-43198935	1:42733264-42733264
21	CLDN19	NM_148960.3(CLDN19):c.*1772A>C	SNV	Uncertain significance	874444		1:43198985-43198985	1:42733314-42733314
22	CLDN19	NM_148960.3(CLDN19):c.*1357C>T	SNV	Uncertain significance	875352		1:43199400-43199400	1:42733729-42733729
23	CLDN19	NM_148960.3(CLDN19):c.*1336T>C	SNV	Uncertain significance	875412		1:43199421-43199421	1:42733750-42733750
24	CLDN19	NM_148960.3(CLDN19):c.*1312G>T	SNV	Uncertain significance	875414		1:43199445-43199445	1:42733774-42733774
25	CLDN19	NM_148960.3(CLDN19):c.*1172C>T	SNV	Uncertain significance	875415		1:43199585-43199585	1:42733914-42733914
26	CLDN19	NM_148960.3(CLDN19):c.*1072C>T	SNV	Uncertain significance	875416		1:43199685-43199685	1:42734014-42734014
27	CLDN19	NM_148960.3(CLDN19):c.*1008C>T	SNV	Uncertain significance	876441		1:43199749-43199749	1:42734078-42734078
28	CLDN19	NM_148960.3(CLDN19):c.*867C>G	SNV	Uncertain significance	876442		1:43199890-43199890	1:42734219-42734219
29	CLDN19	NM_148960.3(CLDN19):c.*800C>T	SNV	Uncertain significance	876443		1:43199957-43199957	1:42734286-42734286
30	CLDN19	NM_148960.3(CLDN19):c.*642G>A	SNV	Uncertain significance	876444		1:43200115-43200115	1:42734444-42734444
31	CLDN19	NM_148960.3(CLDN19):c.*624C>T	SNV	Uncertain significance	874487		1:43200133-43200133	1:42734462-42734462
32	CLDN19	NM_148960.3(CLDN19):c.*598G>T	SNV	Uncertain significance	874488		1:43200159-43200159	1:42734488-42734488
33	CLDN19	NM_148960.3(CLDN19):c.*491C>T	SNV	Uncertain significance	874489		1:43200266-43200266	1:42734595-42734595
34	CLDN19	NM_148960.3(CLDN19):c.*285C>A	SNV	Uncertain significance	874490		1:43200472-43200472	1:42734801-42734801
35	CLDN19	NM_148960.3(CLDN19):c.*177C>A	SNV	Uncertain significance	874542		1:43200580-43200580	1:42734909-42734909
36	CLDN19	NM_148960.3(CLDN19):c.*119C>T	SNV	Uncertain significance	874543		1:43200638-43200638	1:42734967-42734967
37	CLDN19	NM_148960.3(CLDN19):c.*45G>A	SNV	Uncertain significance	874544		1:43200712-43200712	1:42735041-42735041
38	CLDN19	NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu)	SNV	Uncertain significance	875465		1:43201615-43201615	1:42735944-42735944
39	CLDN19	NM_148960.3(CLDN19):c.498C>T (p.Phe166=)	SNV	Uncertain significance	875466		1:43201677-43201677	1:42736006-42736006
40	CLDN19	NM_148960.3(CLDN19):c.439G>A (p.Glu147Lys)	SNV	Uncertain significance	875467		1:43203934-43203934	1:42738263-42738263
41	CLDN19	NM_148960.3(CLDN19):c.350G>A (p.Arg117His)	SNV	Uncertain significance	875468		1:43204130-43204130	1:42738459-42738459
42	CLDN19	NM_148960.3(CLDN19):c.140A>G (p.Tyr47Cys)	SNV	Uncertain significance	876486		1:43205595-43205595	1:42739924-42739924
43	CLDN19	NM_148960.3(CLDN19):c.-150C>T	SNV	Uncertain significance	873596		1:43205884-43205884	1:42740213-42740213
44	CLDN19	NM_148960.3(CLDN19):c.-145C>T	SNV	Uncertain significance	297348	rs1057515569	1:43205879-43205879	1:42740208-42740208
45	CLDN19	NM_148960.3(CLDN19):c.*1428A>G	SNV	Uncertain significance	297321	rs149256970	1:43199329-43199329	1:42733658-42733658
46	CLDN19	NM_148960.3(CLDN19):c.*1353G>A	SNV	Uncertain significance	297322	rs745884385	1:43199404-43199404	1:42733733-42733733
47	CLDN19	NM_148960.3(CLDN19):c.*639C>T	SNV	Uncertain significance	297329	rs1030310070	1:43200118-43200118	1:42734447-42734447
48	CLDN19	NM_148960.3(CLDN19):c.*257C>T	SNV	Uncertain significance	297334	rs796637327	1:43200500-43200500	1:42734829-42734829
49	CLDN19	NM_148960.3(CLDN19):c.337A>G (p.Ile113Val)	SNV	Uncertain significance	297342	rs755364712	1:43204143-43204143	1:42738472-42738472
50	CLDN19	NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu)	SNV	Uncertain significance	297343	rs867064302	1:43204145-43204145	1:42738474-42738474

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CLDN19	p.Gly20Asp	VAR_031239	rs118203979
2	CLDN19	p.Gln57Glu	VAR_031240	rs118203980
3	CLDN19	p.Leu90Pro	VAR_031241	rs118203981

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Expression for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Search GEO for disease gene expression data for Hypomagnesemia 5, Renal, with or Without Ocular Involvement.

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Pathways for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Pathways related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Sertoli-Sertoli Cell Junction Dynamics ⁶³ Show member pathways Epithelial Tight Junctions ⁶³ Germ Cell-Sertoli Cell Junction Dynamics ⁶³	12.4	CLDN19 CLDN16 CLDN14
2	Cell junction organization ⁶⁵ Show member pathways Adherens junctions interactions ⁶⁵ Cell-Cell communication ⁶⁵ Cell-cell junction organization ⁶⁵ Cell-extracellular matrix interactions ⁶⁵ DSCAM interactions ⁶⁵ Localization of the PINCH-ILK-PARVIN complex to focal adhesions ⁶⁵ Nectin/Necl trans heterodimerization ⁶⁵ Regulation of cytoskeletal remodeling and cell spreading by IPP complex components ⁶⁵ Signal regulatory protein (SIRP) family interactions ⁶⁵ Tight junction interactions ⁶⁵ Type I hemidesmosome assembly ⁶⁵	12.2	CLDN19 CLDN16 CLDN14
3	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling ⁶⁴ Leukocyte transendothelial migration ³⁶	12.13	CLDN19 CLDN16 CLDN14
4	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.05	CLDN19 CLDN16 CLDN14
5	Pathogenic Escherichia coli infection ³⁶	11.72	CLDN19 CLDN16 CLDN14
6	Tight junction ³⁶	11.54	CLDN19 CLDN16 CLDN14
7	Cell adhesion molecules (CAMs) ³⁶	11.3	CLDN19 CLDN16 CLDN14
8	Diuretics Pathway, Pharmacodynamics ⁶⁰	10.26	SLC12A1 KCNJ1 BSND

Sources

GO Terms for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Cellular components related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.63	SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
2	plasma membrane	GO:0005886	9.43	SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
3	bicellular tight junction	GO:0005923	8.8	CLDN19 CLDN16 CLDN14

Biological processes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.61	SLC12A1 KCNJ1 CLDN16
2	cell adhesion	GO:0007155	9.58	CLDN19 CLDN16 CLDN14
3	ion transmembrane transport	GO:0034220	9.43	SLC12A1 KCNJ1 BSND
4	chloride transmembrane transport	GO:1902476	9.37	SLC12A1 BSND
5	potassium ion import across plasma membrane	GO:1990573	9.32	SLC12A1 KCNJ1
6	excretion	GO:0007588	9.16	KCNJ1 CLDN16
7	bicellular tight junction assembly	GO:0070830	9.13	CLDN19 CLDN16 CLDN14
8	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	GO:0016338	8.8	CLDN19 CLDN16 CLDN14

Molecular functions related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:0005198	8.8	CLDN19 CLDN16 CLDN14

Sources

Sources for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)

Aliases & Classifications for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards integrated aliases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Related Diseases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Symptoms & Phenotypes for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Human phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Drugs & Therapeutics for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Cochrane evidence based reviews: meier blumberg imahorn syndrome

Genetic Tests for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Genetic tests related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Anatomical Context for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards organs/tissues related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Publications for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Articles related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Genes for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Genes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement (1 elite genes):

Variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

ClinVar genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Expression for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Pathways for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Pathways related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

GO Terms for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Cellular components related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

Biological processes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

Molecular functions related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

Sources for Hypomagnesemia 5, Renal, with or Without Ocular Involvement