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HOMG5
MCID: HYP827
MIFTS: 29
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Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Eye diseases Nephrological diseases
ICD10:
35
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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) |
Diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:60 33 (show all 24)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:248190 |
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Cochrane evidence based reviews: meier blumberg imahorn syndrome |
MalaCards organs/tissues related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:42
Kidney,
Eye
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Articles related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:
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Genes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:76
ClinVar genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:6 (show all 12)
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Search
GEO
for disease gene expression data for Hypomagnesemia 5, Renal, with or Without Ocular Involvement.
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