MAPRE2 gene related symptoms and diseases

All the information presented here about the MAPRE2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAPRE2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormality of the pinna Very Common - Between 80% and 100% cases
Microphthalmia Very Common - Between 80% and 100% cases
Hypospadias Very Common - Between 80% and 100% cases
Pectus excavatum Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MAPRE2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Posteriorly rotated ears
  • Upslanted palpebral fissure
  • Narrow mouth
  • Low-set, posteriorly rotated ears
  • Blepharophimosis
  • Short neck
  • Microtia
  • Seizures

And 79 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MAPRE2 gene

Here you will find a list of rare diseases related to the MAPRE2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Alternate names

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds, skin creases, multiple benign ring-shaped, of limbs, kunze-riehm syndrome, ccsf, circumferential skin creases, kunze type, michelin tire baby syndrome

Description

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

Most common symptoms of MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

SOURCES: ORPHANET OMIM

SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Description

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Most common symptoms of SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

SOURCES: OMIM


Potential gene panels for MAPRE2 gene

MAPRE2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAPRE2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like JSRP1 SHMT1 RPN2 SIX3 ARSB TNK2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more