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skin creases, congenital symmetric circumferential, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

skin creases, congenital symmetric circumferential, 2

MONDO:0014755

Also known as:CSCSC2MAPRE2 multiple benign circumferential skin creases on limbsmultiple benign circumferential skin creases on limbs caused by mutation in MAPRE2

Overview

GeneticsAutosomal dominant · MAPRE2 (chr 18)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intellectual disability, Hypoplasia of the corpus callosum, Microphthalmia, and Enlarged brain ventricles (ventriculomegaly) and others; and common findings: Epicanthus, Seizure, Short palpebral fissure, and Posteriorly rotated ears and others. 52 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Seizure, Intellectual disability, Enlarged brain ventricles (ventriculomegaly)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MAPRE2 encodes microtubule associated protein RP/EB family member 2 (327 aa). Adapter protein that is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. Highest expression in Brain Spinal cord cervical c-1 (127.9 TPM) and Brain Cerebellar Hemisphere (108.9 TPM).

Skin creases, congenital symmetric circumferential, 2 is associated with mutations in the MAPRE2 gene on chromosome 18.

MAPRE2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MAPRE2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 9 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616734

GARD

Genetic and Rare Diseases Info Center

GARD:16156

Questions for Your Care Team

→Should I pursue genetic testing for MAPRE2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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skin creases, congenital symmetric circumferential, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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