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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/248250
http://purl.bioontology.org/ontology/OMIM/248250
|
|---|---|
| Preferred Name | HYPOMAGNESEMIA 3, RENAL |
| Synonyms |
HOMG3
HYPOMAGNESEMIA, ISOLATED RENAL
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING
HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HOMG3
HYPOMAGNESEMIA, ISOLATED RENAL
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING
HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM
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|---|---|
| prefLabel | HYPOMAGNESEMIA 3, RENAL
|
| Gene Symbol |
CLDN16
PCLN1
HOMG3
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| notation | 248250
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| Scope Statement | Hypercalciuria and/or nephrolithiasis occurs in heterozygotes [MISCELLANEOUS]
Onset in early childhood [MISCELLANEOUS]
Caused by mutation in the claudin 16 gene (CLDN16, 603959.0001) [MOLECULAR BASIS]
Presenting symptoms - recurrent UTI, polyuria/polydipsia, hematuria, and abacterial leukocyturia [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 3q27
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| tui | T047
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| cui |
C0268448
C3151482
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