Details of Disease | DrugMAP

General Information of Disease (ID: DISZB59K)

Disease Name	Multiple benign circumferential skin creases on limbs
Synonyms	Michelin tyre baby syndrome; Michelin tire baby syndrome; skin creases, multiple benign ring-shaped, of limbs; Kunze Riehm syndrome; Kunze-Riehm syndrome; circumferential skin creases, Kunze type; CSCSC; congenital circumferential skin folds; CCSF
Disease Hierarchy	DIS9YPUQ: Dermatological disease DISZB59K: Multiple benign circumferential skin creases on limbs
Disease Identifiers	MONDO ID MONDO_0007990 MESH ID C537575 UMLS CUI C0473586 MedGen ID 96881 Orphanet ID 2505 SNOMED CT ID 239142006

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	Supportive	Autosomal dominant	[1]
MAPRE2	OTAE3MX4	Supportive	Autosomal dominant	[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.