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

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 57 72
Hypomagnesemia 5, Renal, with Ocular Involvement 57 29 13 6 70
Fhhnc with Severe Ocular Involvement 57 12 58 72
Meier Blumberg Imahorn Syndrome 20 44 70
Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement 12 72
Hypercalciuria-Bilateral Macular Coloboma Syndrome 12 58
Renal Hypomagnesemia 5 with Ocular Involvement 12 15
Meier-Blumberg-Imahorn Syndrome 12 58
Homg5 57 72
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 58
Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement 57
Idiopathic Hypercalciuria with Bilateral Macular Colobomata 20
Hypomagnesemia, Type 5, Renal, with Ocular Involvement 39
Macular Coloboma, Bilateral, with Hypercalciuria 57
Hypomagnesemia, Renal, with Ocular Involvement 57
Bilateral Macular Coloboma with Hypercalciuria 12
Hypomagnesemia 5 Renal with Ocular Involvement 72
Macular Coloboma Bilateral with Hypercalciuria 72
Hypomagnesemia Renal with Ocular Involvement 72
Hypomagnesemia 5 72

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®:

57 (Updated 20-May-2021)
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:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060881
OMIM® 57 248190
OMIM Phenotypic Series 57 PS602014
ICD10 via Orphanet 33 E83.4
UMLS via Orphanet 71 C1855466 C2931121
Orphanet 58 ORPHA2196
UMLS 70 C1855466 C2931121

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

UniProtKB/Swiss-Prot : 72 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 Salmonella infection (KEGG). Affiliated tissues include eye, kidney and placenta, and related phenotypes are nystagmus and abnormality of retinal pigmentation

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® : 57 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) (Updated 20-May-2021)

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 35)
# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 29.7 SLC12A1 KCNJ1 CLDN19 CLDN16
2 nephrolithiasis 29.1 SLC12A1 KCNJ1 CLDN19 CLDN16 BSND
3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
4 hypomagnesemia 3, renal 10.9
5 retinal degeneration 10.3
6 idiopathic hypercalciuria 10.3
7 hypomagnesemia 1, intestinal 10.1 CLDN19 CLDN16
8 familial hypocalciuric hypercalcemia 10.0 CLDN19 CLDN16
9 hereditary lymphedema 10.0 CLDN19 CLDN16
10 hereditary lymphedema i 10.0 CLDN19 CLDN16
11 hypercalciuria, absorptive, 2 10.0 KCNJ1 CLDN16
12 bartter syndrome, type 2, antenatal 9.9 SLC12A1 KCNJ1
13 arthrogryposis, distal, type 3 9.9 SLC12A1 KCNJ1
14 deafness, autosomal recessive 29 9.8 CLDN19 CLDN16 CLDN14
15 nephrolithiasis, calcium oxalate 9.8 SLC12A1 CLDN19 CLDN16
16 mineral metabolism disease 9.8 SLC12A1 KCNJ1
17 hereditary hearing loss and deafness 9.8 CLDN14 BSND
18 bartter syndrome, type 4a, neonatal, with sensorineural deafness 9.7 KCNJ1 BSND
19 hypocalcemia, autosomal dominant 1 9.7 CLDN16 BSND
20 placenta disease 9.7 SLC12A1 KCNJ1
21 pseudohypoaldosteronism 9.6 SLC12A1 KCNJ1
22 bartter syndrome, type 1, antenatal 9.5 SLC12A1 KCNJ1 CLDN19 CLDN16
23 primary hypomagnesemia 9.5 SLC12A1 KCNJ1 CLDN19 CLDN16
24 antenatal bartter syndrome 9.5 SLC12A1 KCNJ1 BSND
25 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.5 SLC12A1 KCNJ1 BSND
26 renal tubular transport disease 9.5 SLC12A1 KCNJ1 BSND
27 liddle syndrome 1 9.5 SLC12A1 KCNJ1 BSND
28 diabetes insipidus, nephrogenic, autosomal 9.5 SLC12A1 KCNJ1 BSND
29 hypokalemia 9.5 SLC12A1 KCNJ1 BSND
30 polyhydramnios 9.5 SLC12A1 KCNJ1 BSND
31 gitelman syndrome 9.3 SLC12A1 KCNJ1 CLDN16 BSND
32 dent disease 1 9.3 SLC12A1 KCNJ1 CLDN16 BSND
33 sensorineural hearing loss 9.2 SLC12A1 KCNJ1 CLDN14 BSND
34 bartter syndrome, type 3 9.1 SLC12A1 KCNJ1 CLDN19 CLDN16 BSND
35 bartter disease 8.8 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND

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



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:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
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 nephrocalcinosis 31 HP:0000121
15 hypercalciuria 31 HP:0002150
16 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
17 recurrent urinary tract infections 31 HP:0000010
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®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
strabismus
myopia
astigmatism
tapetoretinal degeneration
more
Laboratory Abnormalities:
hypercalciuria
hypomagnesemia
hypermagnesiuria
normal serum calcium

Head And Neck Teeth:
hypoplastic enamel
amelogenesis imperfecta (in some patients)
yellow-brownish discoloration of teeth
cusp malformation
diffuse opacities
more
Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
renal calcium wasting
renal magnesium wasting
progressive renal failure

Genitourinary Bladder:
recurrent urinary tract infections

Clinical features from OMIM®:

248190 (Updated 20-May-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 BSND CLDN16 KCNJ1 SLC12A1

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

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

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, Placenta

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. 57 6
27530400 2017
2
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. 6 57
22422540 2012
3
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. 57 6
17033971 2006
4
Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome. 57 61
500385 1979
5
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
6
Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. 57
7947033 1994

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 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLDN19 NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu) SNV Pathogenic 1362 rs118203980 GRCh37: 1:43205566-43205566
GRCh38: 1:42739895-42739895
2 CLDN19 NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro) SNV Pathogenic 1363 rs118203981 GRCh37: 1:43204211-43204211
GRCh38: 1:42738540-42738540
3 CLDN19 NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg) SNV Pathogenic 548636 rs118203981 GRCh37: 1:43204211-43204211
GRCh38: 1:42738540-42738540
4 CLDN19 NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter) SNV Pathogenic 548637 rs118203980 GRCh37: 1:43205566-43205566
GRCh38: 1:42739895-42739895
5 CLDN19 NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys) SNV Pathogenic 560599 rs1557551678 GRCh37: 1:43204092-43204092
GRCh38: 1:42738421-42738421
6 CLDN16 NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr) SNV Likely pathogenic 930213 GRCh37: 3:190106185-190106185
GRCh38: 3:190388396-190388396
7 CLDN19 NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp) SNV Likely pathogenic 1361 rs118203979 GRCh37: 1:43205676-43205676
GRCh38: 1:42740005-42740005
8 CLDN19 NM_148960.3(CLDN19):c.530T>G (p.Leu177Arg) SNV Likely pathogenic 974422 GRCh37: 1:43201645-43201645
GRCh38: 1:42735974-42735974
9 CLDN19 NM_148960.3(CLDN19):c.*1621T>C SNV Uncertain significance 297319 rs1057515454 GRCh37: 1:43199136-43199136
GRCh38: 1:42733465-42733465
10 CLDN19 NM_148960.3(CLDN19):c.*1353G>A SNV Uncertain significance 297322 rs745884385 GRCh37: 1:43199404-43199404
GRCh38: 1:42733733-42733733
11 CLDN19 NM_148960.3(CLDN19):c.337A>G (p.Ile113Val) SNV Uncertain significance 297342 rs755364712 GRCh37: 1:43204143-43204143
GRCh38: 1:42738472-42738472
12 CLDN19 NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu) SNV Uncertain significance 297343 rs867064302 GRCh37: 1:43204145-43204145
GRCh38: 1:42738474-42738474
13 CLDN19 NM_148960.3(CLDN19):c.*1312G>A SNV Uncertain significance 297323 rs972101560 GRCh37: 1:43199445-43199445
GRCh38: 1:42733774-42733774
14 CLDN19 NM_148960.3(CLDN19):c.*547C>T SNV Uncertain significance 297330 rs549719300 GRCh37: 1:43200210-43200210
GRCh38: 1:42734539-42734539
15 CLDN19 NM_148960.3(CLDN19):c.*1073G>A SNV Uncertain significance 297324 rs1057515527 GRCh37: 1:43199684-43199684
GRCh38: 1:42734013-42734013
16 CLDN19 NM_148960.3(CLDN19):c.*523G>A SNV Uncertain significance 297333 rs776804215 GRCh37: 1:43200234-43200234
GRCh38: 1:42734563-42734563
17 CLDN19 NM_148960.3(CLDN19):c.*1312G>T SNV Uncertain significance 875414 GRCh37: 1:43199445-43199445
GRCh38: 1:42733774-42733774
18 CLDN19 NM_148960.3(CLDN19):c.*1172C>T SNV Uncertain significance 875415 GRCh37: 1:43199585-43199585
GRCh38: 1:42733914-42733914
19 CLDN19 NM_148960.3(CLDN19):c.*1072C>T SNV Uncertain significance 875416 GRCh37: 1:43199685-43199685
GRCh38: 1:42734014-42734014
20 CLDN19 NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu) SNV Uncertain significance 875465 GRCh37: 1:43201615-43201615
GRCh38: 1:42735944-42735944
21 CLDN19 NM_148960.3(CLDN19):c.498C>T (p.Phe166=) SNV Uncertain significance 875466 GRCh37: 1:43201677-43201677
GRCh38: 1:42736006-42736006
22 CLDN19 NM_148960.3(CLDN19):c.439G>A (p.Glu147Lys) SNV Uncertain significance 875467 GRCh37: 1:43203934-43203934
GRCh38: 1:42738263-42738263
23 CLDN19 NM_148960.3(CLDN19):c.350G>A (p.Arg117His) SNV Uncertain significance 875468 GRCh37: 1:43204130-43204130
GRCh38: 1:42738459-42738459
24 CLDN19 NM_148960.3(CLDN19):c.*1008C>T SNV Uncertain significance 876441 GRCh37: 1:43199749-43199749
GRCh38: 1:42734078-42734078
25 CLDN19 NM_148960.3(CLDN19):c.*867C>G SNV Uncertain significance 876442 GRCh37: 1:43199890-43199890
GRCh38: 1:42734219-42734219
26 CLDN19 NM_148960.3(CLDN19):c.*800C>T SNV Uncertain significance 876443 GRCh37: 1:43199957-43199957
GRCh38: 1:42734286-42734286
27 CLDN19 NM_148960.3(CLDN19):c.*642G>A SNV Uncertain significance 876444 GRCh37: 1:43200115-43200115
GRCh38: 1:42734444-42734444
28 CLDN19 NM_148960.3(CLDN19):c.140A>G (p.Tyr47Cys) SNV Uncertain significance 876486 GRCh37: 1:43205595-43205595
GRCh38: 1:42739924-42739924
29 CLDN19 NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr) SNV Uncertain significance 836436 GRCh37: 1:43200786-43200786
GRCh38: 1:42735115-42735115
30 CLDN19 NM_148960.3(CLDN19):c.65T>C (p.Ile22Thr) SNV Uncertain significance 297346 rs140913043 GRCh37: 1:43205670-43205670
GRCh38: 1:42739999-42739999
31 CLDN19 NM_148960.3(CLDN19):c.-150C>T SNV Uncertain significance 873596 GRCh37: 1:43205884-43205884
GRCh38: 1:42740213-42740213
32 CLDN19 NM_148960.3(CLDN19):c.*1965T>G SNV Uncertain significance 874437 GRCh37: 1:43198792-43198792
GRCh38: 1:42733121-42733121
33 CLDN19 NM_148960.3(CLDN19):c.*1925T>C SNV Uncertain significance 874438 GRCh37: 1:43198832-43198832
GRCh38: 1:42733161-42733161
34 CLDN19 NM_148960.3(CLDN19):c.*1919G>A SNV Uncertain significance 874439 GRCh37: 1:43198838-43198838
GRCh38: 1:42733167-42733167
35 CLDN19 NM_148960.3(CLDN19):c.*1909G>A SNV Uncertain significance 874440 GRCh37: 1:43198848-43198848
GRCh38: 1:42733177-42733177
36 CLDN19 NM_148960.3(CLDN19):c.*1908C>T SNV Uncertain significance 874441 GRCh37: 1:43198849-43198849
GRCh38: 1:42733178-42733178
37 CLDN19 NM_148960.3(CLDN19):c.*1829A>G SNV Uncertain significance 874442 GRCh37: 1:43198928-43198928
GRCh38: 1:42733257-42733257
38 CLDN19 NM_148960.3(CLDN19):c.*1822C>T SNV Uncertain significance 874443 GRCh37: 1:43198935-43198935
GRCh38: 1:42733264-42733264
39 CLDN19 NM_148960.3(CLDN19):c.*1772A>C SNV Uncertain significance 874444 GRCh37: 1:43198985-43198985
GRCh38: 1:42733314-42733314
40 CLDN19 NM_148960.3(CLDN19):c.*624C>T SNV Uncertain significance 874487 GRCh37: 1:43200133-43200133
GRCh38: 1:42734462-42734462
41 CLDN19 NM_148960.3(CLDN19):c.*598G>T SNV Uncertain significance 874488 GRCh37: 1:43200159-43200159
GRCh38: 1:42734488-42734488
42 CLDN19 NM_148960.3(CLDN19):c.*491C>T SNV Uncertain significance 874489 GRCh37: 1:43200266-43200266
GRCh38: 1:42734595-42734595
43 CLDN19 NM_148960.3(CLDN19):c.*285C>A SNV Uncertain significance 874490 GRCh37: 1:43200472-43200472
GRCh38: 1:42734801-42734801
44 CLDN19 NM_148960.3(CLDN19):c.*177C>A SNV Uncertain significance 874542 GRCh37: 1:43200580-43200580
GRCh38: 1:42734909-42734909
45 CLDN19 NM_148960.3(CLDN19):c.*119C>T SNV Uncertain significance 874543 GRCh37: 1:43200638-43200638
GRCh38: 1:42734967-42734967
46 CLDN19 NM_148960.3(CLDN19):c.*45G>A SNV Uncertain significance 874544 GRCh37: 1:43200712-43200712
GRCh38: 1:42735041-42735041
47 CLDN19 NM_148960.3(CLDN19):c.*1357C>T SNV Uncertain significance 875352 GRCh37: 1:43199400-43199400
GRCh38: 1:42733729-42733729
48 CLDN19 NM_148960.3(CLDN19):c.*1336T>C SNV Uncertain significance 875412 GRCh37: 1:43199421-43199421
GRCh38: 1:42733750-42733750
49 CLDN19 NM_148960.3(CLDN19):c.*735G>C SNV Uncertain significance 297328 rs142957479 GRCh37: 1:43200022-43200022
GRCh38: 1:42734351-42734351
50 CLDN19 NM_148960.3(CLDN19):c.-145C>T SNV Uncertain significance 297348 rs1057515569 GRCh37: 1:43205879-43205879
GRCh38: 1:42740208-42740208

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

72
# 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

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.

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
Show member pathways
12.4 CLDN19 CLDN16 CLDN14
2
Show member pathways
12.23 CLDN19 CLDN16 CLDN14
3
Show member pathways
12.16 CLDN19 CLDN16 CLDN14
4
Show member pathways
12.08 CLDN19 CLDN16 CLDN14
5
Show member pathways
11.99 CLDN19 CLDN16 CLDN14
6 11.56 CLDN19 CLDN16 CLDN14
7 11.31 CLDN19 CLDN16 CLDN14
8 10.26 SLC12A1 KCNJ1 BSND

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 plasma membrane GO:0005886 9.43 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
2 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 9.5 SLC12A1 KCNJ1 BSND
4 chloride transmembrane transport GO:1902476 9.37 SLC12A1 BSND
5 potassium ion import across plasma membrane GO:1990573 9.26 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 for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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