GPX4 gene related symptoms and diseases

All the information presented here about the GPX4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GPX4 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hyperphosphatemia Very Common - Between 80% and 100% cases
Spondylometaphyseal dysplasia Very Common - Between 80% and 100% cases
Flared iliac wings Very Common - Between 80% and 100% cases
11 pairs of ribs Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GPX4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Myocarditis
  • Hypoplastic iliac wing
  • Flat acetabular roof
  • Delayed epiphyseal ossification
  • Metaphyseal cupping
  • Cone-shaped epiphyses of the phalanges of the hand
  • Cardiorespiratory arrest
  • Heart block

And 62 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GPX4 gene

Here you will find a list of rare diseases related to the GPX4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Alternate names

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia, metaphyseal chondrodysplasia, congenital lethal

Description

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

Most common symptoms of SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

SOURCES: MESH ORPHANET OMIM


Potential gene panels for GPX4 gene

Spondylometaphyseal dysplasia, Sedaghatian type (sequence analysis of GPX4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GPX4 gene.

More info about this panel
Portugal.

Spondylometaphyseal dysplasia, Sedaghatian type (sequence analysis of GPX4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GPX4 gene.

More info about this panel
Portugal.

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel
United States.

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel
United States.

GPX4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPX4 gene.

More info about this panel
United States.

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