MCID: HYP527
MIFTS: 26

Hypomagnesemia 5, Renal, with Ocular Involvement

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Hypomagnesemia 5, Renal, with Ocular Involvement

MalaCards integrated aliases for Hypomagnesemia 5, Renal, with Ocular Involvement:

Name: Hypomagnesemia 5, Renal, with Ocular Involvement 57 29 13 6 73
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 73
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


HPO:

32
hypomagnesemia 5, renal, with ocular involvement:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 248190
Disease Ontology 12 DOID:0060881
ICD10 33 E83.4
Orphanet 59 ORPHA2196
ICD10 via Orphanet 34 E83.4
UMLS via Orphanet 74 C2931121 C1855466
MedGen 42 C1855466

Summaries for Hypomagnesemia 5, Renal, with Ocular Involvement

UniProtKB/Swiss-Prot : 75 Hypomagnesemia 5: 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 Ocular Involvement, also known as fhhnc with severe 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 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.

Description from OMIM: 248190

Related Diseases for Hypomagnesemia 5, Renal, with Ocular Involvement

Diseases related to Hypomagnesemia 5, Renal, with 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 11.1
2 hypomagnesemia 3, renal 11.0

Symptoms & Phenotypes for Hypomagnesemia 5, Renal, with Ocular Involvement

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
myopia
tapetoretinal degeneration
macular coloboma

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

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 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 Ocular Involvement

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia 5, Renal, with Ocular Involvement

Genetic Tests for Hypomagnesemia 5, Renal, with Ocular Involvement

Genetic tests related to Hypomagnesemia 5, Renal, with Ocular Involvement:

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

Anatomical Context for Hypomagnesemia 5, Renal, with Ocular Involvement

MalaCards organs/tissues related to Hypomagnesemia 5, Renal, with Ocular Involvement:

41
Kidney, Eye

Publications for Hypomagnesemia 5, Renal, with Ocular Involvement

Variations for Hypomagnesemia 5, Renal, with Ocular Involvement

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 5, Renal, with 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 Ocular Involvement:

6
# 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

Expression for Hypomagnesemia 5, Renal, with Ocular Involvement

Search GEO for disease gene expression data for Hypomagnesemia 5, Renal, with Ocular Involvement.

Pathways for Hypomagnesemia 5, Renal, with Ocular Involvement

GO Terms for Hypomagnesemia 5, Renal, with Ocular Involvement

Sources for Hypomagnesemia 5, Renal, with Ocular Involvement

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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
Content
Loading form....