Hypomagnesemia 3, renal

Preferred Label : Hypomagnesemia 3, renal;

Symbol : HOMG3;

CISMeF acronym : HOMG3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomagnesemia, primary, due to defect in renal tubular transport of magnesium; Hypomagnesemia, isolated renal; Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis;

Included titles and symbols : Hypercalciuria, childhood, self-limiting;

Description : Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2 ) and Mg(2 ) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the claudin 16 gene (CLDN16, 603959.0001);

Laboratory abnormalities : Hypomagnesemia; Normal serum calcium; Elevated parathyroid hormone; Hyperuricemia; Hypermagnesiuria; Hypercalciuria; Hypocitraturia; Hematuria; Abacterial leukocyturia;

Prefixed ID : #248250;

Details

Origin ID

248250;

UMLS CUI

C0268448;

Automatic exact mappings (from CISMeF team)
- Hypomagnesemia primary [MeSH concept]
- claudin 16 [ORDO Gene]
- claudin 16 [HGNC gene]
- hypomagnesemia primary [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis [ICD-11 More detail]
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis [MedDRA LLT]
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis [MedDRA LLT]
- Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) [SNOMED CT concept]
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement [ORDO Disease]
- renal hypomagnesemia 3 [DO Concept]
- renal hypomagnesemia 3 [Disease (Nov.)]
DO Cross reference
- renal hypomagnesemia 3 [DO Concept]
Genes related to phenotype
- Claudin 16 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hematuria [HPO term]
- Hypercalciuria [HPO term]
- Hypermagnesiuria [HPO term]
- Hypermetropia [HPO term]
- Hyperuricemia [HPO term]
- Hypocitraturia [HPO term]
- Hypomagnesemia [HPO term]
- Juvenile onset [HPO term]
- Myopia [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Nystagmus [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Progressive renal insufficiency [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal calcium wasting [HPO term]
- Renal magnesium wasting [HPO term]
- Renal tubular acidosis [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Tetany [HPO term]
Not associated HPO term(s)
- Abnormal circulating calcium concentration [HPO term]
ORDO concept(s)
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement [ORDO Disease]
See also inter- (CISMeF)
- hypomagnesemia primary [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis [MedDRA LLT]
- Familial hypomagnesemia with hypercalciuria and nephrocalcinosis [MedDRA LLT]
- Hypomagnesemia primary [MeSH concept]
- Primary hypomagnesemia (disorder) [SNOMED CT concept]
- hypomagnesemia primary [MeSH Supplementary Concept]
- primary hypomagnesemia [SNOMED Notion]
- primary hypomagnesemia [DO Concept]
- renal hypomagnesemia 3 [DO Concept]
- renal hypomagnesemia 3 [Disease (Nov.)]

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