Details of Disease | DrugMAP

General Information of Disease (ID: DIS6BAPZ)

Disease Name	Multiple benign circumferential skin creases on limbs 1
Synonyms	skin creases, congenital symmetric circumferential, 1; CSCSC1; symmetric circumferential skin creases, congenital, 1
Disease Hierarchy	DISZB59K: Multiple benign circumferential skin creases on limbs DISSCALK: Hereditary skin disorder DIS6BAPZ: Multiple benign circumferential skin creases on limbs 1
Disease Identifiers	MONDO ID MONDO_0020738 UMLS CUI C4551592 OMIM ID 156610 MedGen ID 1631916

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBB	OTBT6W48	Definitive	Autosomal dominant	[1]
MAPRE2	OTAE3MX4	Definitive	Autosomal recessive	[1]
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References

1	Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014.