Hypomagnesemia 2, renal

Preferred Label : Hypomagnesemia 2, renal;

Symbol : HOMG2;

CISMeF acronym : HOMG2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Magnesium loss, isolated renal; Magnesium wasting, renal;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the FXYD domain-containing ion transport regulator 2 gene (FXYD2, 601814.0001);

Laboratory abnormalities : Hypomagnesemia; Hypocalciuria; Normal parathyroid hormone; Hypokalemia; Hypermagnesuria;

Prefixed ID : #154020;

Details

Origin ID

154020;

UMLS CUI

C1835171;

Currated CISMeF NLP mapping
- Autosomal dominant primary hypomagnesemia with hypocalciuria [ORDO Disease]
- Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) [SNOMED CT concept]
- Hypomagnesaemia with hypocalciuria [ICD-11 More detail]
- Hypomagnesemia 2, renal [MeSH concept]
- Renal magnesium wasting [ICD-11 More detail]
- Renal magnesium wasting [HPO term]
- hypomagnesemia 2, renal [MeSH Supplementary Concept]
- renal hypomagnesemia 2 [DO Concept]
DO Cross reference
- renal hypomagnesemia 2 [DO Concept]
False automatic mappings
- Renal magnesium wasting [HPO term]
Genes related to phenotype
- Fxyd domain-containing ion transport regulator 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chondrocalcinosis [HPO term]
- Generalized muscle weakness [HPO term]
- Hypocalciuria [HPO term]
- Hypokalemia [HPO term]
- Hypomagnesemia [HPO term]
- Renal insufficiency [HPO term]
- Renal magnesium wasting [HPO term]
- Seizure [HPO term]
- Usually autosomal dominant [HPO term]
ORDO concept(s)
- Autosomal dominant primary hypomagnesemia with hypocalciuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant primary hypomagnesemia with hypocalciuria [ORDO Disease]
- Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) [SNOMED CT concept]
- Hypomagnesemia 2, renal [MeSH concept]
- Renal magnesium wasting [HPO term]
- Renal magnesium wasting [ICD-11 More detail]
- hypomagnesemia 2, renal [MeSH Supplementary Concept]
- renal hypomagnesemia 2 [DO Concept]

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