Hypomagnesemia 5, Renal, with or Without Ocular Involvement disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Eye diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Disorders of magnesium metabolism

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

MeSH ⁴³ C536148 D009397 D015499 more

ICD10 via Orphanet ³³ E83.4

UMLS via Orphanet ⁷² C1855466 C2931121

Orphanet ⁵⁸ ORPHA2196

MedGen ⁴¹ C1855466 C4721891

UMLS ⁷¹ C2931121

Sources

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)

Sources

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:

Sources

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

Sources

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

Sources

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

Sources

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

Sources

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	Yamaguti PM...Acevedo AC	27530400	2017
2	Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. ⁵⁶ ⁶	Godron A...Vargas-Poussou R	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	Konrad M...Weber S	17033971	2006
4	Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome. ⁶¹ ⁵⁶	Meier W...Oetliker O	500385	1979
5	Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. ⁵⁶	Rodriguez-Soriano J...Vallo A	7947033	1994

Sources

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

Genes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CLDN19	Claudin 19	Protein Coding	1676.26	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	22422540 27530400 17033971
2	CLDN16	Claudin 16	Protein Coding	7.31	DISEASES inferred ¹⁵
3	TALDO1	Transaldolase 1	Protein Coding	5.67	DISEASES inferred ¹⁵
4	CLDN14	Claudin 14	Protein Coding	5.62	DISEASES inferred ¹⁵
5	KCNJ1	Potassium Inwardly Rectifying Channel Subfamily J Member 1	Protein Coding	5.49	DISEASES inferred ¹⁵
6	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	5.45	DISEASES inferred ¹⁵
7	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	5.43	DISEASES inferred ¹⁵

Sources

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

Sources

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.

Sources

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	Sertoli-Sertoli Cell Junction Dynamics ⁶³ Show member pathways Epithelial Tight Junctions ⁶³ Germ Cell-Sertoli Cell Junction Dynamics ⁶³	12.39	CLDN19 CLDN16 CLDN14
2	Cell junction organization ⁶⁵ Show member pathways Adherens junctions interactions ⁶⁵ Cell-Cell communication ⁶⁵ Cell-cell junction organization ⁶⁵ Cell-extracellular matrix interactions ⁶⁵ DSCAM interactions ⁶⁵ Localization of the PINCH-ILK-PARVIN complex to focal adhesions ⁶⁵ Nectin/Necl trans heterodimerization ⁶⁵ Regulation of cytoskeletal remodeling and cell spreading by IPP complex components ⁶⁵ Signal regulatory protein (SIRP) family interactions ⁶⁵ Tight junction interactions ⁶⁵ Type I hemidesmosome assembly ⁶⁵	12.2	CLDN19 CLDN16 CLDN14
3	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways ⁶⁴ Leukocyte transendothelial migration ³⁶	12.13	CLDN19 CLDN16 CLDN14
4	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.05	CLDN19 CLDN16 CLDN14
5	Pathogenic Escherichia coli infection ³⁶	11.74	CLDN19 CLDN16 CLDN14
6	Tight junction ³⁶	11.56	CLDN19 CLDN16 CLDN14
7	Cell adhesion molecules (CAMs) ³⁶	11.3	CLDN19 CLDN16 CLDN14
8	Diuretics Pathway, Pharmacodynamics ⁶⁰	10.26	SLC12A1 KCNJ1 BSND

Sources

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

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)

Aliases & Classifications for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards integrated aliases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

Anatomical Context for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards organs/tissues related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

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

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

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

Genes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement (1 elite genes):

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

ClinVar genetic disease 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:

Expression 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:

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:

Biological processes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

Molecular functions related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

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