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.
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).
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
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
Search interest in MAPRE2
Potential gene panels for MAPRE2 gene
MAPRE2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MAPRE2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRICKLE2 SLC16A1 PMM2 COASY TSFM AGRN WDPCP