MAGED2 gene related symptoms and diseases

All the information presented here about the MAGED2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAGED2 gene

Symptoms // Phenotype % Cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Premature birth Uncommon - Between 30% and 50% cases
Nephrocalcinosis Uncommon - Between 30% and 50% cases
Hypercalciuria Uncommon - Between 30% and 50% cases
Hypokalemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MAGED2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hyponatremia
  • Polyuria
  • Hyperaldosteronism
  • Renal salt wasting
  • Alkalosis
  • Increased circulating renin level
  • Hypokalemic alkalosis
  • Hypochloremia

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MAGED2 gene

Here you will find a list of rare diseases related to the MAGED2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ANTENATAL BARTTER SYNDROME


Alternate names

ANTENATAL BARTTER SYNDROME Is also known as bartter syndrome, furosemide type, hyperprostaglandin e syndrome, bartter syndrome, furosemide-amiloride type

Description

Antenatal Bartter syndrome is a phenotypic variant of Bartter syndrome (see this term) presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome


More info about ANTENATAL BARTTER SYNDROME

SOURCES: ORPHANET

BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5


Description

Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016).

Most common symptoms of BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5

  • Polyhydramnios
  • Premature birth
  • Nephrocalcinosis
  • Hypercalciuria
  • Hypokalemia


More info about BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5

SOURCES: OMIM


Potential gene panels for MAGED2 gene

Bartter syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Bartter syndrome and related disorders NGS panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1

More info about this panel

Bartter syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Bartter syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1

More info about this panel

Bartter syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Bartter syndrome and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1

More info about this panel

Bartter syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Bartter syndrome that also includes the following genes: SLC12A1 MAGED2 BSND CLCNKA CLCNKB KCNJ1

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

MAGED2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAGED2 gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel


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