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 57 75
Hypomagnesemia 5, Renal, with Ocular Involvement 57 29 13 6
Fhhnc with Severe Ocular Involvement 57 12 59 75
Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement 12 75
Hypercalciuria-Bilateral Macular Coloboma Syndrome 12 59
Meier-Blumberg-Imahorn Syndrome 12 59
Meier Blumberg Imahorn Syndrome 53 44
Homg5 57 75
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 59
Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement 57
Idiopathic Hypercalciuria with Bilateral Macular Colobomata 53
Hypomagnesemia, Type 5, Renal, with Ocular Involvement 40
Macular Coloboma, Bilateral, with Hypercalciuria 57
Hypomagnesemia, Renal, with Ocular Involvement 57
Renal Hypomagnesemia 5 with Ocular Involvement 12
Bilateral Macular Coloboma with Hypercalciuria 12
Hypomagnesemia 5 Renal with Ocular Involvement 75
Macular Coloboma Bilateral with Hypercalciuria 75
Hypomagnesemia Renal with Ocular Involvement 75
Hypomagnesemia 5 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
hypomagnesemia 5, renal, with or without ocular involvement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248190
Disease Ontology 12 DOID:0060881
Orphanet 59 ORPHA2196
ICD10 via Orphanet 34 E83.4
UMLS via Orphanet 74 C2931121 C1855466
MedGen 42 C1855466
UMLS 73 C2931121

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

UniProtKB/Swiss-Prot : 75 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 inguinal hernia

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)

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 11.2
2 hypomagnesemia 3, renal 11.1
3 idiopathic hypercalciuria 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
3 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
4 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
5 nephropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000112
6 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
7 chorioretinal coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000567
8 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
9 nephrolithiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000787
10 abnormality of calcium-phosphate metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0100530
11 macular coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001116
12 hypercalciuria 32 HP:0002150
13 nephrocalcinosis 32 HP:0000121
14 recurrent urinary tract infections 32 HP:0000010
15 tapetoretinal degeneration 32 HP:0000547
16 hypomagnesemia 32 HP:0002917
17 chronic kidney disease 32 HP:0012622
18 renal calcium wasting 32 HP:0012637
19 hypermagnesiuria 32 HP:0012608
20 renal magnesium wasting 32 HP:0005567

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:

41
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
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:

75
# 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

3 CDC
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17 ExPASy
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33 ICD10
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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