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Hypomagnesemia 1, intestinal(HOMG1)

MedGen UID:
355596
Concept ID:
C1865974
Disease or Syndrome
Synonyms: HOMG1; Hypomagnesemia with Secondary Hypocalcemia; HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA; HYPOMAGNESEMIC TETANY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hypomagnesemia with secondary hypocalcemia (711151004); Hypomagnesemic tetany (711151004); Intestinal hypomagnesemia 1 (711151004); Intestinal hypomagnesemia with secondary hypocalcemia (711151004); Familial primary hypomagnesemia with hypocalcuria (711151004)
 
Gene (location): TRPM6 (9q21.13)
OMIM®: 602014
Orphanet: ORPHA30924

Definition

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 (review 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. [from OMIM]

Additional description

From GHR
Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia).Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is described as "secondary" because it occurs as a consequence of hypomagnesemia.Shortages of magnesium and calcium can cause neurological problems that begin in infancy, including painful muscle spasms (tetany) and seizures. If left untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at the expected rate (failure to thrive), and heart failure.  https://ghr.nlm.nih.gov/condition/hypomagnesemia-with-secondary-hypocalcemia

Clinical features

Hypocalcemia
MedGen UID:
5705
Concept ID:
C0020598
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Tetany
MedGen UID:
11748
Concept ID:
C0039621
Disease or Syndrome
A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)
Hypomagnesemia
MedGen UID:
57481
Concept ID:
C0151723
Finding
An abnormally decreased magnesium concentration in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypomagnesemia 1, intestinal

Recent clinical studies

Etiology

Agus ZS
Curr Opin Nephrol Hypertens 2016 Jul;25(4):301-7. doi: 10.1097/MNH.0000000000000238. PMID: 27219040
Cools E, Missant C
Acta Anaesthesiol Belg 2014;65(1):1-8. PMID: 24988822
Corleto VD, Festa S, Di Giulio E, Annibale B
Curr Opin Endocrinol Diabetes Obes 2014 Feb;21(1):3-8. doi: 10.1097/MED.0000000000000031. PMID: 24310148
Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG
Eur J Hum Genet 2014 Apr;22(4):497-504. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.178. PMID: 23942199Free PMC Article
Hedberg J, Haenni A
Obes Surg 2012 Nov;22(11):1708-13. doi: 10.1007/s11695-012-0709-x. PMID: 22773141

Diagnosis

Patel S, Rayanagoudar G, Gelding S
BMJ Case Rep 2016 Sep 13;2016 doi: 10.1136/bcr-2016-216870. PMID: 27624449
Altıncık A, Schlingmann KP, Tosun MS
J Clin Res Pediatr Endocrinol 2016 Mar 5;8(1):101-4. Epub 2015 Dec 18 doi: 10.4274/jcrpe.2254. PMID: 26759217Free PMC Article
Kamate M, Singh N, Patil S
Indian Pediatr 2015 Jun;52(6):521-2. PMID: 26121732
Katayama K, Povalko N, Yatsuga S, Nishioka J, Kakuma T, Matsuishi T, Koga Y
Brain Dev 2015 Mar;37(3):292-8. Epub 2014 Jun 28 doi: 10.1016/j.braindev.2014.06.006. PMID: 24985022
Turnock M, Pagnoux C, Shore K
J Dig Dis 2014 Aug;15(8):459-62. doi: 10.1111/1751-2980.12155. PMID: 24798177

Therapy

Agus ZS
Curr Opin Nephrol Hypertens 2016 Jul;25(4):301-7. doi: 10.1097/MNH.0000000000000238. PMID: 27219040
Kamate M, Singh N, Patil S
Indian Pediatr 2015 Jun;52(6):521-2. PMID: 26121732
Swaminathan K
Indian J Pharmacol 2015 May-Jun;47(3):330-1. doi: 10.4103/0253-7613.157135. PMID: 26069375Free PMC Article
Cools E, Missant C
Acta Anaesthesiol Belg 2014;65(1):1-8. PMID: 24988822
Turnock M, Pagnoux C, Shore K
J Dig Dis 2014 Aug;15(8):459-62. doi: 10.1111/1751-2980.12155. PMID: 24798177

Prognosis

Altıncık A, Schlingmann KP, Tosun MS
J Clin Res Pediatr Endocrinol 2016 Mar 5;8(1):101-4. Epub 2015 Dec 18 doi: 10.4274/jcrpe.2254. PMID: 26759217Free PMC Article
Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG
Eur J Hum Genet 2014 Apr;22(4):497-504. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.178. PMID: 23942199Free PMC Article
Zhao Z, Pei Y, Huang X, Liu Y, Yang W, Sun J, Si N, Xing X, Li M, Wang O, Jiang Y, Zhang X, Xia W
Am J Nephrol 2013;37(6):541-8. Epub 2013 May 16 doi: 10.1159/000350886. PMID: 23689795
Mashhadi MA, Heidari Z, Zakeri Z
Iran J Kidney Dis 2013 Jan;7(1):23-7. PMID: 23314138

Clinical prediction guides

Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG
Eur J Hum Genet 2014 Apr;22(4):497-504. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.178. PMID: 23942199Free PMC Article
Zhao Z, Pei Y, Huang X, Liu Y, Yang W, Sun J, Si N, Xing X, Li M, Wang O, Jiang Y, Zhang X, Xia W
Am J Nephrol 2013;37(6):541-8. Epub 2013 May 16 doi: 10.1159/000350886. PMID: 23689795
Mashhadi MA, Heidari Z, Zakeri Z
Iran J Kidney Dis 2013 Jan;7(1):23-7. PMID: 23314138

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