Skin Creases, Congenital Symmetric Circumferential, 1 (CSCSC1)

Alias:

Michelin Tire Baby Syndrome

Cscsc1

Skin Creases, Multiple Benign Ring-Shaped, of Limbs

Congenital Symmetric Circumferential Skin Creases 1

Circumferential Skin Creases, Kunze Type

Skin Crease, Circumferential, Symmetric, Congenital, Type 1

Multiple Benign Circumferential Skin Creases on Limbs 1

Symmetric Circumferential Skin Creases, Congenital, 1

Multiple Benign Ring-Shaped Skin Creases of Limbs

Circumferential Skin Creases Kunze Type

Csc-Kt

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Skin Creases, Congenital Symmetric Circumferential, 1, also known as michelin tire baby syndrome, is related to multiple benign circumferential skin creases on limbs and tubulinopathy. An important gene associated with Skin Creases, Congenital Symmetric Circumferential, 1 is TUBB (Tubulin Beta Class I), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include skin and smooth muscle, and related phenotypes are micrognathia and pectus excavatum

Related ID：

MALACARDS：SKN063

OMIM：156610

MESH：D003483