HOMG5
MCID: HYP827
MIFTS: 42

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 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:

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
ICD10 via Orphanet 33 E83.4
UMLS via Orphanet 72 C1855466 C2931121
Orphanet 58 ORPHA2196
UMLS 71 C2931121

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, calcium oxalate. 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, 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 : 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)

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 33)
# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 27.9 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
2 nephrolithiasis, calcium oxalate 27.4 TALDO1 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14
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 hereditary lymphedema 10.0 CLDN19 CLDN16
9 hereditary lymphedema i 10.0 CLDN19 CLDN16
10 hypercalciuria, absorptive, 2 9.9 KCNJ1 CLDN16
11 deafness, autosomal recessive 29 9.8 CLDN19 CLDN16 CLDN14
12 diabetes insipidus 9.7 SLC12A1 BSND
13 hypocalcemia, autosomal dominant 1 9.6 CLDN16 BSND
14 hereditary hearing loss and deafness 9.6 CLDN14 BSND
15 bartter syndrome, type 4a, neonatal, with sensorineural deafness 9.6 KCNJ1 BSND
16 placenta disease 9.5 SLC12A1 KCNJ1
17 auditory system disease 9.5 CLDN14 BSND
18 bartter syndrome, type 1, antenatal 9.3 SLC12A1 KCNJ1 CLDN19 CLDN16
19 primary hypomagnesemia 9.3 SLC12A1 KCNJ1 CLDN19 CLDN16
20 bartter syndrome, type 2, antenatal 9.3 SLC12A1 KCNJ1 BSND
21 antenatal bartter syndrome 9.3 SLC12A1 KCNJ1 BSND
22 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.3 SLC12A1 KCNJ1 BSND
23 dent disease 1 9.2 SLC12A1 KCNJ1 BSND
24 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.2 CLDN14 BSND
25 renal tubular transport disease 9.2 SLC12A1 KCNJ1 BSND
26 gitelman syndrome 9.2 SLC12A1 KCNJ1 BSND
27 diabetes insipidus, nephrogenic, autosomal 9.2 SLC12A1 KCNJ1 BSND
28 liddle syndrome 1 9.2 SLC12A1 KCNJ1 BSND
29 hypokalemia 9.2 SLC12A1 KCNJ1 BSND
30 polyhydramnios 9.2 SLC12A1 KCNJ1 BSND
31 bartter syndrome, type 3 9.0 SLC12A1 KCNJ1 CLDN19 BSND
32 mineral metabolism disease 8.7 SLC12A1 KCNJ1 CLDN19 CLDN16 BSND
33 bartter disease 8.6 TALDO1 SLC12A1 KCNJ1 CLDN16 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 rod-cone dystrophy 31 HP:0000510
14 strabismus 31 HP:0000486
15 recurrent urinary tract infections 31 HP:0000010
16 hypercalciuria 31 HP:0002150
17 nephrocalcinosis 31 HP:0000121
18 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
19 astigmatism 31 HP:0000483
20 chronic kidney disease 31 HP:0012622
21 hypomagnesemia 31 HP:0002917
22 renal calcium wasting 31 HP:0012637
23 hypermagnesiuria 31 HP:0012608
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
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 Bladder:
recurrent urinary tract infections

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

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

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. 56 6
27530400 2017
2
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. 56 6
22422540 2012
3
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. 56 6
17033971 2006
4
Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome. 61 56
500385 1979
5
Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. 56
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLDN19 NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)SNV Pathogenic 1361 rs118203979 1:43205676-43205676 1:42740005-42740005
2 CLDN19 NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu)SNV Pathogenic 1362 rs118203980 1:43205566-43205566 1:42739895-42739895
3 CLDN19 NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro)SNV Pathogenic 1363 rs118203981 1:43204211-43204211 1:42738540-42738540
4 CLDN19 NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)SNV Pathogenic 548636 rs118203981 1:43204211-43204211 1:42738540-42738540
5 CLDN19 NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter)SNV Pathogenic 548637 rs118203980 1:43205566-43205566 1:42739895-42739895
6 CLDN19 NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)SNV Pathogenic 560599 rs1557551678 1:43204092-43204092 1:42738421-42738421

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

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
12.39 CLDN19 CLDN16 CLDN14
2
Show member pathways
12.2 CLDN19 CLDN16 CLDN14
3
Show member pathways
12.13 CLDN19 CLDN16 CLDN14
4
Show member pathways
12.05 CLDN19 CLDN16 CLDN14
5 11.74 CLDN19 CLDN16 CLDN14
6 11.56 CLDN19 CLDN16 CLDN14
7 11.3 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 9.54 SLC12A1 KCNJ1 CLDN16
2 ion transmembrane transport GO:0034220 9.33 SLC12A1 KCNJ1 BSND
3 chloride transmembrane transport GO:1902476 9.32 SLC12A1 BSND
4 potassium ion import across plasma membrane GO:1990573 9.26 SLC12A1 KCNJ1
5 excretion GO:0007588 8.96 KCNJ1 CLDN16
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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