MAPKAPK3 gene related symptoms and diseases

All the information presented here about the MAPKAPK3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAPKAPK3 gene

Symptoms // Phenotype % Cases
Visual loss Very Common - Between 80% and 100% cases
Rod-cone dystrophy Very Common - Between 80% and 100% cases
Reduced visual acuity Very Common - Between 80% and 100% cases
Scarring Very Common - Between 80% and 100% cases
Macular dystrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MAPKAPK3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Macular atrophy
  • Retinal atrophy
  • Choroidal neovascularization
  • Macular scar
  • Geographic atrophy
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Rare diseases associated to MAPKAPK3 gene

Here you will find a list of rare diseases related to the MAPKAPK3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY


Alternate names

MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY Is also known as mcrpe, martinique crinkled retinal pigment epitheliopathy

Description

Patterned macular dystrophy-3 (MDPT3), also called Martinique crinkled retinal pigment epitheliopathy, appears in the fourth or fifth decade of life and is characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina. Polypoid choroidal vasculopathy, choroidal neovascularization, or atrophic fibrous macular scarring can cause reduced visual acuity after age 50. Late-stage MDPT3 consists of a retinitis pigmentosa (RP; see {268000})-like phenotype due to death of retinal pigment epithelium (RPE) and photoreceptor cells. The dry desert land pattern observed on fundus examination corresponds to an irregular thickness of the Bruch membrane and the RPE, with a scalloped elevation ('crinkling') of the RPE observed on optical coherence tomography (OCT). Full-field electroretinography may be normal at preclinical and early stages of the dystrophy, but later cone and rod responses are severely reduced, consistent with progressive photoreceptor cell dysfunction and death at the final state (summary by Meunier et al., 2016).For a general phenotypic description and discussion of genetic heterogeneity of patterned macular dystrophy, see MDPT1 (OMIM ).

Most common symptoms of MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY

  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Scarring
  • Macular dystrophy


More info about MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY

SOURCES: ORPHANET OMIM


Potential gene panels for MAPKAPK3 gene

MAPKAPK3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAPKAPK3 gene.

More info about this panel


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