KEGG   DISEASE: Congenital symmetric circumferential skin creasesHelp
Entry
H01579                      Disease                                

Name
Congenital symmetric circumferential skin creases;
Kunze-Riehm syndrome;
Michelin tire baby syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H01579  Congenital symmetric circumferential skin creases
BRITE hierarchy
Gene
TUBB [HSA:203068] [KO:K07375]
MAPRE2 [HSA:10982] [KO:K10436]
Other DBs
ICD-10: Q82.8
MeSH: C537575
OMIM: 156610 616734
Reference
  Authors
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
  Title
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
  Journal
Am J Hum Genet 97:790-800 (2015)
DOI:10.1016/j.ajhg.2015.10.014
Reference
  Authors
Farooqi GA, Mulla SA, Ahmad M
  Title
Michelin tire baby syndrome--a case report and literature review.
  Journal
J Pak Med Assoc 60:777-9 (2010)

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