HOMG5
MCID: HYP827
MIFTS: 29

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 58 76
Hypomagnesemia 5, Renal, with Ocular Involvement 58 30 13 6
Fhhnc with Severe Ocular Involvement 58 12 60 76
Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement 12 76
Hypercalciuria-Bilateral Macular Coloboma Syndrome 12 60
Meier-Blumberg-Imahorn Syndrome 12 60
Meier Blumberg Imahorn Syndrome 54 45
Homg5 58 76
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 60
Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement 58
Idiopathic Hypercalciuria with Bilateral Macular Colobomata 54
Hypomagnesemia, Type 5, Renal, with Ocular Involvement 41
Macular Coloboma, Bilateral, with Hypercalciuria 58
Hypomagnesemia, Renal, with Ocular Involvement 58
Renal Hypomagnesemia 5 with Ocular Involvement 12
Bilateral Macular Coloboma with Hypercalciuria 12
Hypomagnesemia 5 Renal with Ocular Involvement 76
Macular Coloboma Bilateral with Hypercalciuria 76
Hypomagnesemia Renal with Ocular Involvement 76
Hypomagnesemia 5 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

33
hypomagnesemia 5, renal, with or without ocular involvement:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis and hypomagnesemia 3, renal. An important gene associated with Hypomagnesemia 5, Renal, with or Without Ocular Involvement is CLDN19 (Claudin 19). Affiliated tissues include kidney and eye, 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 : 58 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:

# Related Disease Score Top Affiliating Genes
1 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
2 hypomagnesemia 3, renal 11.1
3 idiopathic hypercalciuria 10.3

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

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

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
3 nephropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000112
4 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
5 chorioretinal coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000567
6 nephrolithiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000787
7 macular coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001116
8 abnormal calcium-phosphate regulating hormone level 33 hallmark (90%) HP:0100530
9 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
10 hematuria 60 33 frequent (33%) Frequent (79-30%) HP:0000790
11 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
12 amelogenesis imperfecta 33 very rare (1%) HP:0000705
13 strabismus 33 HP:0000486
14 hypercalciuria 33 HP:0002150
15 nephrocalcinosis 33 HP:0000121
16 abnormality of calcium-phosphate metabolism 60 Very frequent (99-80%)
17 recurrent urinary tract infections 33 HP:0000010
18 rod-cone dystrophy 33 HP:0000510
19 astigmatism 33 HP:0000483
20 chronic kidney disease 33 HP:0012622
21 hypomagnesemia 33 HP:0002917
22 renal calcium wasting 33 HP:0012637
23 hypermagnesiuria 33 HP:0012608
24 renal magnesium wasting 33 HP:0005567

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
myopia
astigmatism
tapetoretinal degeneration
more
Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
renal calcium wasting
progressive renal failure
renal magnesium wasting

Head And Neck Teeth:
hypoplastic enamel
amelogenesis imperfecta (in some patients)
yellow-brownish discoloration of teeth
cusp malformation
diffuse opacities
more
Laboratory Abnormalities:
hypercalciuria
hypomagnesemia
hypermagnesiuria
normal serum calcium

Genitourinary Bladder:
recurrent urinary tract infections

Clinical features from OMIM:

248190

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 30 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:

42
Kidney, Eye

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

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

# Title Authors Year
1
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2017
2
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. ( 22422540 )
2012
3
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. ( 17033971 )
2006
4
Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome. ( 500385 )
1979

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:

76
# 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

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLDN19 NM_148960.2(CLDN19): c.59G> A (p.Gly20Asp) single nucleotide variant Pathogenic rs118203979 GRCh37 Chromosome 1, 43205676: 43205676
2 CLDN19 NM_148960.2(CLDN19): c.59G> A (p.Gly20Asp) single nucleotide variant Pathogenic rs118203979 GRCh38 Chromosome 1, 42740005: 42740005
3 CLDN19 NM_148960.2(CLDN19): c.169C> G (p.Gln57Glu) single nucleotide variant Pathogenic rs118203980 GRCh37 Chromosome 1, 43205566: 43205566
4 CLDN19 NM_148960.2(CLDN19): c.169C> G (p.Gln57Glu) single nucleotide variant Pathogenic rs118203980 GRCh38 Chromosome 1, 42739895: 42739895
5 CLDN19 NM_148960.2(CLDN19): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs118203981 GRCh37 Chromosome 1, 43204211: 43204211
6 CLDN19 NM_148960.2(CLDN19): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs118203981 GRCh38 Chromosome 1, 42738540: 42738540
7 CLDN19 NM_148960.2(CLDN19): c.269T> G (p.Leu90Arg) single nucleotide variant Pathogenic rs118203981 GRCh37 Chromosome 1, 43204211: 43204211
8 CLDN19 NM_148960.2(CLDN19): c.269T> G (p.Leu90Arg) single nucleotide variant Pathogenic rs118203981 GRCh38 Chromosome 1, 42738540: 42738540
9 CLDN19 NM_148960.2(CLDN19): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs118203980 GRCh37 Chromosome 1, 43205566: 43205566
10 CLDN19 NM_148960.2(CLDN19): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs118203980 GRCh38 Chromosome 1, 42739895: 42739895
11 CLDN19 NM_148960.2(CLDN19): c.388G> T (p.Gly130Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 43204092: 43204092
12 CLDN19 NM_148960.2(CLDN19): c.388G> T (p.Gly130Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 42738421: 42738421

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

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

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

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75 UMLS via Orphanet
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