HOMG5
MCID: HYP827
MIFTS: 44
|
Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
|
|
MalaCards integrated aliases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:
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
ICD10:
33
Orphanet: 58
![]() ![]() ![]() External Ids:
|
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. 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 and kidney, and related phenotypes are abnormality of retinal pigmentation and nephropathy 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) |
Human phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:58 31 (show all 24)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:248190MGI Mouse Phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:45
|
Cochrane evidence based reviews: meier blumberg imahorn syndrome |
MalaCards organs/tissues related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:40
Eye,
Kidney
|
Articles related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:
|
ClinVar genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:6 (show top 50) (show all 70)
UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:73
|
Search
GEO
for disease gene expression data 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:
|
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:
|
|