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Renal hypomagnesemia 2(HOMG2)

MedGen UID:
320542
Concept ID:
C1835171
Disease or Syndrome
Synonyms: HOMG2; Magnesium loss, isolated renal
SNOMED CT: Autosomal dominant primary hypomagnesemia with hypocalciuria (725393000); Isolated renal magnesium wasting (725393000); HOMG2 - renal hypomagnesemia type 2 (725393000); Isolated autosomal dominant hypomagnesemia (725393000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FXYD2 (11q23.3)
 
Monarch Initiative: MONDO:0007937
OMIM®: 154020
Orphanet: ORPHA34528

Definition

Autosomal dominant renal hypomagnesium wasting (HOMG2) is characterized by hypomagnesemia due to renal magnesium loss and is associated with hypocalciuria. Patients may have convulsions and muscle cramps, but they may also be asymptomatic except for the development of chondrocalcinosis at an adult age (summary by Knoers, 2009 and de Baaij et al., 2015). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014. [from OMIM]

Clinical features

From HPO
Hypocalciuria
MedGen UID:
9381
Concept ID:
C0020599
Disease or Syndrome
An abnormally decreased calcium concentration in the urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Renal magnesium wasting
MedGen UID:
1811452
Concept ID:
C5574944
Finding
High urine magnesium in the presence of hypomagnesemia.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Chondrocalcinosis
MedGen UID:
154303
Concept ID:
C0553730
Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Generalized muscle weakness
MedGen UID:
155433
Concept ID:
C0746674
Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hypomagnesemia
MedGen UID:
57481
Concept ID:
C0151723
Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal hypomagnesemia 2
Follow this link to review classifications for Renal hypomagnesemia 2 in Orphanet.

Professional guidelines

PubMed

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Hamed SA
Expert Rev Clin Pharmacol 2019 Jan;12(1):61-90. Epub 2019 Jan 11 doi: 10.1080/17512433.2019.1555468. PMID: 30501441
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Sakaguchi Y
Clin Exp Nephrol 2022 May;26(5):379-384. Epub 2022 Jan 25 doi: 10.1007/s10157-022-02182-4. PMID: 35076791Free PMC Article
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Drug Ther Bull 2013 Mar;51(3):33-6. doi: 10.1136/dtb.2013.1.0169. PMID: 23482516

Diagnosis

Ray E, Mohan K, Ahmad S, Wolf MTF
Adv Kidney Dis Health 2023 Mar;30(2):148-163. doi: 10.1053/j.akdh.2022.12.001. PMID: 36868730Free PMC Article
Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Al-Aly Z, Maddukuri G, Xie Y
Am J Kidney Dis 2020 Apr;75(4):497-507. Epub 2019 Oct 10 doi: 10.1053/j.ajkd.2019.07.012. PMID: 31606235
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118

Therapy

Wang B, Bonkovsky HL, Lim JK, Balwani M
Gastroenterology 2023 Mar;164(3):484-491. Epub 2023 Jan 13 doi: 10.1053/j.gastro.2022.11.034. PMID: 36642627Free PMC Article
Sakaguchi Y
Clin Exp Nephrol 2022 May;26(5):379-384. Epub 2022 Jan 25 doi: 10.1007/s10157-022-02182-4. PMID: 35076791Free PMC Article
Jain N, Reilly RF
Curr Opin Nephrol Hypertens 2017 Jul;26(4):250-255. doi: 10.1097/MNH.0000000000000327. PMID: 28375869
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Drug Ther Bull 2013 Mar;51(3):33-6. doi: 10.1136/dtb.2013.1.0169. PMID: 23482516

Prognosis

Gadoth A, Nisnboym M, Alcalay Y, Zubkov A, Schwartz I, Schwartz D, Abboud M, Rubinek T, Yossepowitch O, Weinstein T
Neurol Neuroimmunol Neuroinflamm 2023 Nov;10(6) Epub 2023 Aug 17 doi: 10.1212/NXI.0000000000200155. PMID: 37591767Free PMC Article
Sakaguchi Y
Clin Exp Nephrol 2022 May;26(5):379-384. Epub 2022 Jan 25 doi: 10.1007/s10157-022-02182-4. PMID: 35076791Free PMC Article
Tseng MH, Konrad M, Ding JJ, Lin SH
Biomed J 2022 Feb;45(1):74-87. Epub 2021 Nov 10 doi: 10.1016/j.bj.2021.11.002. PMID: 34767995Free PMC Article
Wolf MT
Curr Opin Pediatr 2017 Apr;29(2):187-198. doi: 10.1097/MOP.0000000000000450. PMID: 27906866Free PMC Article
Choueiri TK, Escudier B, Powles T, Tannir NM, Mainwaring PN, Rini BI, Hammers HJ, Donskov F, Roth BJ, Peltola K, Lee JL, Heng DYC, Schmidinger M, Agarwal N, Sternberg CN, McDermott DF, Aftab DT, Hessel C, Scheffold C, Schwab G, Hutson TE, Pal S, Motzer RJ; METEOR investigators
Lancet Oncol 2016 Jul;17(7):917-927. Epub 2016 Jun 5 doi: 10.1016/S1470-2045(16)30107-3. PMID: 27279544

Clinical prediction guides

Gu WJ, Duan XJ, Liu XZ, Cen Y, Tao LY, Lyu J, Yin HY
Br J Anaesth 2023 Nov;131(5):861-870. Epub 2023 Sep 7 doi: 10.1016/j.bja.2023.08.005. PMID: 37684164
Düğer H, Bostan H, Gül Ü, Uçan B, Hepşen S, Sakız D, Akhanlı P, Çakal E, Kızılgül M
J Endocrinol Invest 2023 Sep;46(9):1935-1940. Epub 2023 Mar 16 doi: 10.1007/s40618-023-02064-w. PMID: 36929458
Tseng MH, Konrad M, Ding JJ, Lin SH
Biomed J 2022 Feb;45(1):74-87. Epub 2021 Nov 10 doi: 10.1016/j.bj.2021.11.002. PMID: 34767995Free PMC Article
Ferrè S, Igarashi P
Pediatr Nephrol 2019 Aug;34(8):1325-1335. Epub 2018 Jul 1 doi: 10.1007/s00467-018-3990-7. PMID: 29961928Free PMC Article
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118

Recent systematic reviews

Huang CY, Yang CC, Hung KC, Jiang MY, Huang YT, Hwang JC, Hsieh CC, Chuang MH, Chen JY
PeerJ 2022;10:e14203. Epub 2022 Oct 11 doi: 10.7717/peerj.14203. PMID: 36248710Free PMC Article
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Upala S, Jaruvongvanich V, Wijarnpreecha K, Sanguankeo A
QJM 2016 Jul;109(7):453-459. Epub 2016 Mar 24 doi: 10.1093/qjmed/hcw048. PMID: 27016536
Cheungpasitporn W, Thongprayoon C, Harindhanavudhi T, Edmonds PJ, Erickson SB
Endocr Res 2016 May;41(2):142-7. Epub 2016 Mar 2 doi: 10.3109/07435800.2015.1094088. PMID: 26934195
Santi M, Milani GP, Simonetti GD, Fossali EF, Bianchetti MG, Lava SA
Pediatr Pulmonol 2016 Feb;51(2):196-202. Epub 2015 Dec 10 doi: 10.1002/ppul.23356. PMID: 26663706

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