KEGG   DISEASE: Congenital symmetric circumferential skin creases
H01579                      Disease                                

Congenital symmetric circumferential skin creases;
Kunze-Riehm syndrome;
Michelin tire baby syndrome
Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described in 1969, then subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism, and cardiac and genital anomalies. It has been reported that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a beta-tubulin isotype that is expressed abundantly in the developing brain.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H01579  Congenital symmetric circumferential skin creases
TUBB [HSA:203068] [KO:K07375]
MAPRE2 [HSA:10982] [KO:K10436]
Other DBs
ICD-10: Q82.8
MeSH: C537575
OMIM: 156610 616734
Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Am J Hum Genet 97:790-800 (2015)
Farooqi GA, Mulla SA, Ahmad M
Michelin tire baby syndrome--a case report and literature review.
J Pak Med Assoc 60:777-9 (2010)

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