Hypomagnesemia 1, intestinal

Preferred Label : Hypomagnesemia 1, intestinal;

Symbol : HOMG1;

CISMeF acronym : HOMG; HOMG1; HSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HSH; HOMG; Hypomagnesemia, intestinal, with secondary hypocalcemia; Hypomagnesemia with secondary hypocalcemia; Hypomagnesemic tetany;

Description : Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by very low serum magnesium levels. Hypocalcemia is a secondary consequence of parathyroid failure and parathyroid hormone resistance as a result of severe magnesium deficiency. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany. Untreated, the disease may be fatal or lead to severe neurologic damage. Treatment includes immediate administration of magnesium, usually intravenously, followed by life-long high-dose oral magnesium (reviewed by Knoers, 2009). - Genetic Heterogeneity of Hypomagnesemia A form of hypomagnesemia due to kidney defects and high urinary magnesium excretion associated with hypocalciuria (HOMG2; 154020) is caused by mutation in the FXYD2 gene (601814). Renal hypomagnesemia-3 (HOMG3; 248250), associated with hypercalciuria and nephrocalcinosis, is caused by mutation in the CLDN16 gene (603959). Renal hypomagnesemia-4 (HOMG4; 611718), which is normocalciuric, is caused by mutation in the EGF gene (131530). Renal hypomagnesemia-5 (HOMG5; 248190), associated with hypercalciuria, nephrocalcinosis, and severe ocular involvement, is caused by mutation in the CLDN19 gene (610036). Renal hypomagnesemia-6 (HOMG6; 613882) is caused by mutation in the CNNM2 gene (607803). Patients with Gitelman syndrome (263800) and Bartter syndrome (see 241200) also show hypomagnesemia, and steatorrhea and severe chronic diarrhea states, such as Crohn disease (see 226600) and Whipple disease, that can result in severe hypomagnesemia.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily M, member 6 gene (TRPM6, 607009.0001);

Laboratory abnormalities : Hypomagnesemia; Hypocalcemia;

Prefixed ID : #602014;

Details

Origin ID

602014;

UMLS CUI

C1865974;

Automatic exact mappings (from CISMeF team)
- Hypomagnesaemia due to selective magnesium malabsorption [ICD-11 More detail]
- Hypomagnesemic tetany (disorder) [SNOMED CT concept]
- Primary hypomagnesemia with secondary hypocalcemia [ORDO Disease]
- TRPM6 wt Allele [NCIt concept]
- hypomagnesemia primary [MeSH Supplementary Concept]
- primary hypomagnesemia [DO Concept]
Currated CISMeF NLP mapping
- Hypomagnesemia with secondary hypocalcemia (disorder) [SNOMED CT concept]
- hypomagnesemia 1, intestinal [MeSH concept]
- hypomagnesemia 1, intestinal [MeSH Supplementary Concept]
- intestinal hypomagnesemia 1 [DO Concept]
- intestinal hypomagnesemia 1 [Disease (Nov.)]
DO Cross reference
- intestinal hypomagnesemia 1 [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily M, member 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypocalcemia [HPO term]
- Hypomagnesemia [HPO term]
- Infantile onset [HPO term]
- Muscle spasm [HPO term]
- Muscle spasm [HPO term]
- Seizure [HPO term]
- Tetany [HPO term]
ORDO concept(s)
- Primary hypomagnesemia with secondary hypocalcemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomagnesemia with secondary hypocalcemia (disorder) [SNOMED CT concept]
- Primary hypomagnesemia with secondary hypocalcemia [ORDO Disease]
- hypomagnesemia 1, intestinal [MeSH Supplementary Concept]
- hypomagnesemia 1, intestinal [MeSH concept]
- intestinal hypomagnesemia 1 [DO Concept]
- intestinal hypomagnesemia 1 [Disease (Nov.)]

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