Details of Disease

General Information of Disease (ID: DISJTYAL)

Disease Name Skin creases, congenital symmetric circumferential, 2
Synonyms
skin creases, congenital symmetric circumferential, type 2; symmetric circumferential skin creases, congenital, 2; multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2; skin creases, congenital symmetric circumferential, 2; skin creases, congenital symmetric circumferential, 2; CSCSC2; MAPRE2 multiple benign circumferential skin creases on limbs; CSCSC2
Disease Hierarchy
DISZB59K: Multiple benign circumferential skin creases on limbs
DISSCALK: Hereditary skin disorder
DISJTYAL: Skin creases, congenital symmetric circumferential, 2
Disease Identifiers
MONDO ID
MONDO_0014755
UMLS CUI
C4225225
OMIM ID
616734
MedGen ID
902880

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAPRE2 OTAE3MX4 Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.