Hypomagnesemia 5, renal, with or without ocular involvement

Preferred Label : Hypomagnesemia 5, renal, with or without ocular involvement;

Symbol : HOMG5;

CISMeF acronym : HOMG5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypomagnesemia, renal, with ocular involvement; Macular coloboma, bilateral, with hypercalciuria; Hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement; Fhhnc with severe ocular involvement;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the claudin 19 (CLDN19, 610036.0001);

Laboratory abnormalities : Hypomagnesemia; Normal serum calcium; Hypermagnesiuria; Hypercalciuria;

Prefixed ID : #248190;

Details

Origin ID

248190;

UMLS CUI

C4721891;

Currated CISMeF NLP mapping
- Familial hypomagnesaemia - hypercalciuria - nephrocalcinosis - severe ocular involvement [ICD-11 More detail]
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) [SNOMED CT concept]
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement [ORDO Disease]
- hypomagnesemia 5, renal, with ocular involvement [MeSH concept]
- hypomagnesemia 5, renal, with ocular involvement [MeSH Supplementary Concept]
- renal hypomagnesemia 5 [Disease (Nov.)]
- renal hypomagnesemia 5 with ocular involvement [DO Concept]
DO Cross reference
- renal hypomagnesemia 5 with ocular involvement [DO Concept]
Genes related to phenotype
- Claudin 19 [OMIM gene]
HPO term(s)
- Abnormal circulating calcium concentration [HPO term]
- Amelogenesis imperfecta [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Chronic kidney disease [HPO term]
- Hypercalciuria [HPO term]
- Hypermagnesiuria [HPO term]
- Hypomagnesemia [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Macular coloboma [HPO term]
- Myopia [HPO term]
- Nephrocalcinosis [HPO term]
- Nephrolithiasis [HPO term]
- Nystagmus [HPO term]
- Progressive renal insufficiency [HPO term]
- Recurrent urinary tract infections [HPO term]
- Renal calcium wasting [HPO term]
- Renal magnesium wasting [HPO term]
- Rod-cone dystrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Strabismus [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
ORDO concept(s)
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) [SNOMED CT concept]
- hypomagnesemia 5, renal, with ocular involvement [MeSH Supplementary Concept]
- hypomagnesemia 5, renal, with ocular involvement [MeSH concept]
- renal hypomagnesemia 5 [Disease (Nov.)]

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